Relationship between a clinical entity and modes of inheritance.
Relationship between clinical entity and age of onset.
Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available.
Stable URL retro-compatible with older versions of the Orphanet website, redirected towards the specific page of a given clinical entity on the Orphanet website.
A clinical entity for which no new information has been published in the literature since the advent of the genetic era in the 1990s, but is considered as a distinct phenotype and is therefore kept in the Orphanet nomenclature.
Stable URL directing to the specific page of a given clinical entity on the Orphanet website.
Relation between two clinical entities, one being included in the other. Ex : clinical subtype part_of disease.
A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring.
A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring.
A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder.
A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring.
A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene.
A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement.
A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available.
A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.
disease-causing germline mutation(s) (loss of function) in
A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.
disease-causing germline mutation(s) (gain of function) in
A gene in which a variation is used to monitor disorder activity and/or patient outcome.
This relation is generated between the deprecated entity and the active clinical entity (designated as the target entity) that is now recognized. The targeted ORPHAcode must be used as the code of replacement.
This relation is generated between an obsolete entity and an active clinical entity (designated as the target entity) for appropriate redirection towards a code of replacement in coding settings. The targeted ORPHAcode should be viewed as a suggestion.
Relationship between a gene with protein product, non-coding RNA or disorder-associated locus and its cytogenetic location on the chromosome.
A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.
Orphanet
Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_range : Unknown
E (Exact mapping: the two concepts are equivalent)
- NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).
- NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).
Louis-Bar syndrome
A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.
Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000
Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
- NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).
BTNT (ORPHAcode is broader than the targeted code used to represent it)
NTBT (ORPHAcode is narrower than the targeted code used to represent it)
Ocular albinism with late-onset sensorineural hearing loss
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
Worldwide AND has_cases/families_value : 9.0 (Case(s))
Worldwide AND has_point_prevalence_range : <1 / 1 000 000
Ocular albinism with late-onset sensorineural deafness
Clinical subtype
- BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).
Soft tissue perineurioma
Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.
Worldwide AND has_cases/families_value : 300.0 (Case(s))
Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.
Worldwide AND has_cases/families_value : 172.0 (Case(s))
- E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).
ABetaE22Q amyloidosis
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia.
Worldwide AND has_cases/families_value : 250.0 (Case(s))
CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.
Worldwide AND has_cases/families_value : 9.0 (Family(ies))
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.
Lissencephaly with cerebellar hypoplasia type A
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.
Worldwide AND has_cases/families_value : 50.0 (Case(s))
Lissencephaly with cerebellar hypoplasia type B
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
Worldwide AND has_cases/families_value : 2.0 (Case(s))
Lissencephaly with cerebellar hypoplasia type C
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
Lissencephaly with cerebellar hypoplasia type D
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.
Lissencephaly with cerebellar hypoplasia type E
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
Lissencephaly with cerebellar hypoplasia type F
MDS-IB1
RAEB-1
Refractory anemia with excess blasts type 1
A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Myelodysplastic neoplasm with increased blasts type 1
MDS-IB2
RAEB-2
Refractory anemia with excess blasts type 2
A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Myelodysplastic neoplasm with increased blasts type 2
United States AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
mu-HCD
A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
Worldwide AND has_cases/families_value : 35.0 (Case(s))
Alpha-HCD
IPSID
Immunoproliferative small intestinal disease
Mediterranean lymphoma
A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
Worldwide AND has_cases/families_value : 400.0 (Case(s))
Franklin disease
Gamma-HCD
A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
Worldwide AND has_cases/families_value : 120.0 (Case(s))
Amelogenesis imperfecta type 1
Amelogenesis imperfecta type 3
Amelogenesis imperfecta type 2
Amelogenesis imperfecta type 4
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hepatic solitary necrotic nodule
A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dehydrated hereditary stomatocytosis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial pseudohyperkalemia
OBSOLETE: Familial pseudohyperkalemia type 2
OBSOLETE: Familial pseudohyperkalemia, Cardiff type
CMTDIA
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
Worldwide AND has_cases/families_value : 20.0 (Case(s))
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
CMTDIB
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
Worldwide AND has_cases/families_value : 37.0 (Case(s))
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
CMTDIC
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
CMTDID
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
Worldwide AND has_cases/families_value : 12.0 (Case(s))
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.
A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.
Isolated tubular duplication of the esophagus
Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Category
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Europe AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 1.54 AND has_point_prevalence_range : 1-9 / 100 000
Etiological subtype
HAE 2
HAE-II
Hereditary angioneurotic edema type 2
Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
F12-related HAE with normal C1 inhibitor
HAE 3
HAE-III
Hereditary angioedema type 3
Hereditary angioneurotic edema type 3
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema
A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).
F12-related hereditary angioedema with normal C1Inh
AAE 2
AAE II
Acquired angioneurotic edema type 2
A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Acquired angioneurotic edema type 1
ACE inhibitor-related acquired angioedema
ACEI-related acquired angioedema
Acquired angioedema with normal C1 inhibitor
Acquired angioedema with normal C1INH
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Semantic primary progressive aphasia
Semantic variant PPA
Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Worldwide AND has_cases/families_value : 49.0 (Case(s))
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
Europe AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
Mosaic trisomy chromosome 3
Trisomy 3 mosaicism
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
Worldwide AND has_cases/families_value : 6.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Thoracic outlet syndrome
OBSOLETE: True vascular thoracic outlet syndrome
NTOS
Neurogenic TOS
Neurogenic cervical rib syndrome
Neurogenic costoclavicular syndrome
Neurogenic thoracic outlet compression syndrome
Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.
Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000
Jejunal neuroendocrine neoplasm
Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
Ileal neuroendocrine neoplasm
Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
Appendiceal NEN
Appendiceal neuroendocrine neoplasm
NEN of appendix
A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC).
Colonic NET
NET of the colon
Neuroendocrine neoplasm of the colon
A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
NET of the rectum
Rectal NET
Rectal neuroendocrine tumor
Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.
NET of anal canal
A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).
A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.
Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
Worldwide AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Primary hepatic neuroendocrine carcinoma
A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.
Europe AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000
Austria AND has_annual_incidence_average_value : 7.679 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 3.74 AND has_annual_incidence_range : 1-9 / 100 000
Bulgaria AND has_annual_incidence_average_value : 2.921 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 8.329 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 6.382 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 4.803 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 3.65 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_lifetime_prevalence_average_value : 61.7 AND has_lifetime_prevalence_range : 6-9 / 10 000
Finland AND has_annual_incidence_average_value : 6.375 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 5.526 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 2.45 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 12.86 AND has_annual_incidence_range : 1-5 / 10 000
Latvia AND has_annual_incidence_average_value : 4.563 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 7.905 AND has_annual_incidence_range : 1-9 / 100 000
Malta AND has_annual_incidence_average_value : 6.344 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 2.373 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 4.472 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 4.488 AND has_annual_incidence_range : 1-9 / 100 000
Portugal AND has_annual_incidence_average_value : 8.628 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 3.991 AND has_annual_incidence_range : 1-9 / 100 000
Slovenia AND has_annual_incidence_average_value : 5.649 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 5.162 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 6.39 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 2.733 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 12.2 AND has_annual_incidence_range : 1-5 / 10 000
Worldwide AND has_annual_incidence_average_value : 3.1 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000
GEP-NEN
Gastroenteropancreatic neuroendocrine neoplasm
Malignant carcinoid syndrome
A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.
Worldwide AND has_cases/families_value : 115.0 (Case(s))
Neuroendocrine tumor with other location
NON RARE IN EUROPE: Ciliary neuralgia
NON RARE IN EUROPE: Cluster migraine
NON RARE IN EUROPE: Erythromelalgia of the head
NON RARE IN EUROPE: Erythroprosopalgia of Bing
NON RARE IN EUROPE: Histamine cephalalgia
NON RARE IN EUROPE: Histamine headache
NON RARE IN EUROPE: Histaminic cephalalgia
NON RARE IN EUROPE: Horton headache
NON RARE IN EUROPE: Migrainous neuralgia
NON RARE IN EUROPE: Red migraine
This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases.
A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.
Historical entity
Scalp defects-postaxial polydactyly syndrome
ACD-intellectual disability syndrome
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
Worldwide AND has_cases/families_value : 5.0 (Case(s))
Alopecia-contractures-dwarfism-intellectual disability syndrome
Ipp-Gelfand syndrome
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.
Worldwide AND has_cases/families_value : 3.0 (Case(s))
Shokeir syndrome
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms.
Europe AND has_point_prevalence_range : <1 / 1 000 000
Porphyria due to ALA dehydratase deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare ophthalmic disorder with cranial nerve involvement
Intellectual disability associated with fragile site FRAXE
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
Europe AND has_point_prevalence_range : 1-9 / 1 000 000
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
BSI
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
Benallegue-Lacete syndrome
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Autosomal dominant complex HSP
Autosomal dominant complex SPG
Autosomal dominant complicated HSP
Autosomal dominant complicated SPG
Autosomal dominant complicated spastic paraplegia
Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Autosomal dominant complex spastic paraplegia
Clinical group
Autosomal dominant pure HSP
Autosomal dominant pure SPG
Autosomal dominant uncomplicated HSP
Autosomal dominant uncomplicated SPG
Autosomal dominant uncomplicated spastic paraplegia
Ireland AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000
Norway AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
Autosomal dominant pure spastic paraplegia
Autosomal recessive complex HSP
Autosomal recessive complex SPG
Autosomal recessive complicated HSP
Autosomal recessive complicated SPG
Autosomal recessive complicated spastic paraplegia
Autosomal recessive complex spastic paraplegia
Autosomal recessive pure HSP
Autosomal recessive pure SPG
Autosomal recessive uncomplicated HSP
Autosomal recessive uncomplicated SPG
Autosomal recessive uncomplicated spastic paraplegia
Autosomal recessive pure spastic paraplegia
Autosomal dominant spastic paraplegia type 3A
SPG3A
Strümpell disease
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.
Portugal AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal dominant spastic paraplegia type 3
SPG4
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
Portugal AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal dominant spastic paraplegia type 4
SPG5A
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
Autosomal recessive spastic paraplegia type 5A
SPG6
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Worldwide AND has_cases/families_value : 10.0 (Family(ies))
Autosomal dominant spastic paraplegia type 6
SPG8
A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.
Autosomal dominant spastic paraplegia type 8
OBSOLETE: SPG9
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal dominant complex spastic paraplegia
OBSOLETE: Autosomal dominant spastic paraplegia type 9
SPG10
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.
Autosomal dominant spastic paraplegia type 10
SPG12
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
Worldwide AND has_cases/families_value : 27.0 (Case(s))
Autosomal dominant spastic paraplegia type 12
SPG13
A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.
Worldwide AND has_cases/families_value : 10.0 (Case(s))
Autosomal dominant spastic paraplegia type 13
SPG14
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.
Worldwide AND has_cases/families_value : 1.0 (Family(ies))
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Hereditary spastic paraparesis type 15
SPG15
Spastic paraplegia-retinal degeneration syndrome
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
SPG16
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
Worldwide AND has_cases/families_value : 20.0 (Family(ies))
Autosomal dominant spastic paraplegia type 17
SPG19
A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
Autosomal dominant spastic paraplegia type 19
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Japan AND has_point_prevalence_average_value : 0.48 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.71 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
Worldwide AND has_cases/families_value : 36.0 (Case(s))
Autosomal recessive spastic paraplegia type 20
Mast syndrome
SPG21
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
Autosomal recessive spastic paraplegia type 21
Lison syndrome
SPG23
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
Worldwide AND has_cases/families_value : 5.0 (Family(ies))
Autosomal recessive spastic paraplegia type 23
SPG24
A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia-disc herniation syndrome
SPG25
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
Autosomal recessive spastic paraplegia type 25
GM2 synthase deficiency
SPG26
Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
Autosomal recessive spastic paraplegia type 26
SPG27
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.
Autosomal recessive spastic paraplegia type 27
SPG28
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
Worldwide AND has_cases/families_value : 7.0 (Case(s))
Autosomal recessive spastic paraplegia type 28
SPG29
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
Autosomal dominant spastic paraplegia type 29
SPG30
A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
Worldwide AND has_cases/families_value : 3.0 (Family(ies))
SPG31
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
Autosomal dominant spastic paraplegia type 31
Isolated congenital LQTS
Romano-Ward long QT syndrome
A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia
TALDO deficiency
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
Worldwide AND has_cases/families_value : 23.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Peters anomaly
OBSOLETE: Peters anomaly-cataract syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome
EFMR
Juberg-Hellman syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PCDH19 clustering epilepsy
Female restricted epilepsy with intellectual disability
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Double outlet right ventricle with subpulmonary ventricular septal defect
ADEAF
ADLTE
ADPEAF
Autosomal dominant epilepsy with auditory features
Autosomal dominant lateral temporal lobe epilepsy
EAF
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
FHH type 2
Familial hypocalciuric hypercalcemia type 2
FHH type 3
Familial hypocalciuric hypercalcemia type 3
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Microlissencephaly
Complete situs inversus
Complete situs inversus viscerum
Situs inversus
A rare developmental defect during embryogenesis characterized by complete mirror-imaged arrangement of the internal organs across the left-right axis of the body. Primary ciliary dyskinesia, Kartagener type, is frequently associated. Congenital heart disease are present in 43% of cases, which is less frequent than in patients with heterotaxy. Similarly, extracardiac and vascular anomalies can be associated (e.g. intestinal malrotation, spleen anomalies, absence of retrohepatic inferior vena cava, bilateral superior vena cava), but less frequently that in heterotaxy.
United States AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000
CSCD
Congenital hereditary stromal dystrophy
Witschel dystrophy
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
Worldwide AND has_cases/families_value : 6.0 (Family(ies))
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
CMT1X
CMTX1
A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported.
X-linked Charcot-Marie-Tooth disease type 1
CMTX2
A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
X-linked Charcot-Marie-Tooth disease type 2
CMT3X
CMTX3
A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms.
Worldwide AND has_cases/families_value : 4.0 (Family(ies))
X-linked Charcot-Marie-Tooth disease type 3
CMT4X
CMTX4
Cowchock syndrome
A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
X-linked Charcot-Marie-Tooth disease type 4
CMT1A
Microduplication 17p12
Norway AND has_point_prevalence_average_value : 82.37 AND has_point_prevalence_range : 6-9 / 10 000
United Kingdom AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_point_prevalence_range : 1-5 / 10 000
CMT1B
Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1, caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome, or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.
Worldwide AND has_point_prevalence_range : 1-9 / 100 000
CMT1C
A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.
CMT1D
Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
CMT1F
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).
HIGM1
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome type 1
XHIGM
AID deficiency
Activation-induced cytidine deaminase deficiency
HIGM2
HIGM3
Hyper-IgM syndrome due to CD40 deficiency
HIGM4
HIGM5
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Myelodysplastic syndrome
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Devriendt-Legius-Fryns syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woodhouse-Sakati syndrome
Alopecia-hypogonadism-extrapyramidal syndrome
AR-CMT2B2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
CMT2H
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
Worldwide AND has_cases/families_value : 13.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-functioning paraganglioma
SCA22
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 19/22
SCA23
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
SCA28
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
SCA20
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
SCA25
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
SCA26
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Autosomal recessive dopa-responsive dystonia
DYT14
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant dopa-responsive dystonia
APV/ADA, Fallot type
Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
PVA/ADA, Fallot type
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
PCT
A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis.
Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever
OBSOLETE: Kenya tick-bite fever
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
- NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Other syndrome with lissencephaly as a major feature
OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome
Devriendt-Vandenberghe-Fryns syndrome
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Head of classification
Rare genetic ophthalmologic disease
Rare NSID
Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.
Worldwide AND has_annual_incidence_range : Unknown
Rare non-syndromic intellectual disability
Xq22.3 microdeletion syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
X-linked Alport syndrome-diffuse leiomyomatosis
Alport syndrome with macrothrombocytopenia
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease
A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.
Anomaly of the mitral subvalvular apparatus
Rare bronchopulmonary and pleural cavity tumors
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare ophthalmic disorder
CPAI
Chronic adrenocorticoid insufficiency
Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000
Genetic chronic primary adrenal insufficiency
Acquired chronic primary adrenal insufficiency
PAD
Predominantly antibodies deficiency
Immunodeficiency due to predominantly antibodies defect
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency predominantly affecting antibody production
OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
Quantitative and/or qualitative congenital phagocyte defect
Constitutional neutropenia
A rare group of genetic primary immunodeficiencies characterized by impaired neutrophil maturation or function. Neutropenia ranges from mild to severe and may be cyclic, isolated, or syndromic. It is defined by a triad of severe infections, diverse comorbidities, and/or increased leukemic risk, with severity and frequency determined by the underlying gene defect.
Primary immunodeficiency due to a defect in innate immunity
Immunodeficiency due to a complement cascade protein anomaly
Australia AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000
Germany AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 1.79 AND has_point_prevalence_range : 1-9 / 100 000
Korea, Republic of AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000
Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000
New Zealand AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000
Norway AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000
Oman AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000
Poland AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000
Turkey AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 1.84 AND has_point_prevalence_range : 1-9 / 100 000
MSA
Multisystem atrophy
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000
Faroe Islands AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000
Iceland AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 10.3 AND has_point_prevalence_range : 1-5 / 10 000
Russian Federation AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
Worldwide AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Early-onset autosomal dominant Alzheimer disease
Lissencephaly type 1
Other syndrome with lissencephaly as a major feature
Pure HSP
Pure SPG
Pure familial spastic paraplegia
Uncomplicated HSP
Uncomplicated SPG
Uncomplicated familial spastic paraplegia
Uncomplicated hereditary spastic paraplegia
Complex HSP
Complex SPG
Complex familial spastic paraplegia
Complicated HSP
Complicated SPG
Complicated familial spastic paraplegia
Complicated hereditary spastic paraplegia
Autosomal dominant limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy
Autosomal deletion
- BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).
Rickettsiae disease
Spotted fever rickettsiae disease
Typhus-group rickettsiae disease
HHV-8-related disorder
OBSOLETE: Cholestatic hepatic amyloidosis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary localized amyloidosis
OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.
MCA/MR
Multiple congenital anomalies-intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OBSOLETE: MCA/variable MR
OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
MCA without intellectual disability
Multiple congenital anomalies without intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Ambras syndrome
Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
Worldwide AND has_cases/families_value : 40.0 (Case(s))
Congenital generalized hypertrichosis, Ambras type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Glomerular disease
AML and myelodysplastic syndromes related to alkylating agent
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tetraamelia-multiple malformations syndrome
AML with t(8;21)(q22;q22) translocation
A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.
Europe AND has_annual_incidence_range : <1 / 1 000 000
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Ameloonychohypohidrotic ectodermal dysplasia
Ameloonychohypohidrotic syndrome
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. There have been no further descriptions in the literature since 1975.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Hereditary optic neuropathy
Amelogenesis imperfecta-nephrocalcinosis syndrome
A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.
Worldwide AND has_cases/families_value : 11.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Lysinuric protein intolerance
OBSOLETE: Hyperdibasic aminoaciduria type 1
OBSOLETE: ADAM syndrome
OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-syndromic terminal transverse limb defect
3-mercaptopyruvate sulfurtransferase deficiency
Ampola syndrome
MCDU
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
Worldwide AND has_cases/families_value : 1.0 (Case(s))
Beta-mercaptolactate cysteine disulfiduria
AMC
Multiple congenital arthrogryposis
A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
Australia AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000
Canada AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_range : Unknown
Maltase-glucoamylase deficiency
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.
Chronic diarrhea due to glucoamylase deficiency
CSD
NHE3 deficiency
Na-H exchanger 3 deficiency
Non-syndromic congenital sodium diarrhea
Sodium/proton exchanger-3 deficiency
A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
Isolated trehalose intolerance
A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.
Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.
Congenital enterocyte heparan sulfate deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare inflammatory bowel disease
OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome
OBSOLETE: IPSID
OBSOLETE: Mediterranean lymphoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Alpha-heavy chain disease
OBSOLETE: Immunoproliferative small intestinal disease
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic autoimmune enteropathy
TCP
Tropical calcific chronic pancreatitis
A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
AIP
A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1, which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2, which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare intestinal disease
LHON
Leber optic atrophy
A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.
Denmark AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000
Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 1.9743 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 3.22 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000
Maroteaux-Verloes-Stanescu syndrome
Regressive metaphyseal dysplasia
A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
Intestinal disease due to vitamin absorption anomaly
Intestinal disease due to fat malabsorption
Congenital intestinal disease due to an enzymatic defect
Congenital enteropathy involving intestinal mucosa development
Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Rare disease involving intestinal motility
Rare intestinal tumor
Rare tumor of bowel
Rare monogenic IBD
Rare monogenic inflammatory bowel disease
Metabolic disease with intestinal involvement
Adenocarcinoma of the small bowel
Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.
Austria AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.174 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.308 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.588 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.574 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.551 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.724 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.564 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.79 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.265 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.277 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.626 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.788 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.743 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.477 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.679 AND has_annual_incidence_range : 1-9 / 1 000 000
Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.
Unclassified intestinal pseudoobstruction
Fetal anasarca
Fetal hydrops
Generalized fetal edema
Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
Ireland AND has_birth_prevalence_average_value : 134.0 AND has_birth_prevalence_range : >1 / 1000
Thailand AND has_birth_prevalence_average_value : 180.0 AND has_birth_prevalence_range : >1 / 1000
Turkey AND has_birth_prevalence_average_value : 380.0 AND has_birth_prevalence_range : >1 / 1000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare constitutional hemolytic anemia due to an enzyme disorder
OBSOLETE: Anemia due to adenosine triphosphatase deficiency
Water-West syndrome
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.
Lethal hemolytic anemia-genital anomalies syndrome
Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.
A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).
Africa AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : >1 / 1000
Australia AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 6-9 / 10 000
Europe AND has_birth_prevalence_average_value : 4.22 AND has_birth_prevalence_range : 1-5 / 10 000
India AND has_birth_prevalence_average_value : 210.0 AND has_birth_prevalence_range : >1 / 1000
Iran, Islamic Republic of AND has_birth_prevalence_average_value : 120.0 AND has_birth_prevalence_range : >1 / 1000
Singapore AND has_birth_prevalence_average_value : 58.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 20.6 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000
Urethral atresia
A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.
Worldwide AND has_birth_prevalence_range : Unknown
Corneal anesthesia-deafness-intellectual disability syndrome
Corneal anesthesia-hearing loss-intellectual disability syndrome
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.
Warburton-Anyane-Yeboa syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Worldwide AND has_cases/families_value : 41.0 (Case(s))
VOGM
Vein of Galen arteriovenous malformation
A rare intracranial congenital high-flow vascular malformation characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants.
SOVA
SVA
Sinus of Valsalva aneurysm
A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.
Worldwide AND has_cases/families_value : 809.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare disease with thoracic aortic aneurysm and aortic dissection
OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome
BRBN
Bean syndrome
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Worldwide AND has_cases/families_value : 200.0 (Case(s))
Worldwide AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000
Brunzell syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital generalized lipodystrophy
Systemic cystic angiomatosis-Seip syndrome
A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.
Nakagawa angioblastoma
A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.
Sommer-Rathbun-Battles syndrome
An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
Aniridia-renal agenesis-psychomotor retardation syndrome
Gillespie syndrome
A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.
Worldwide AND has_cases/families_value : 22.0 (Family(ies))
Aniridia-cerebellar ataxia-intellectual disability syndrome
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Walker-Dyson syndrome
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
Aniridia-intellectual disability syndrome
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
Canada AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).
Japan AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000
AEC syndrome
Hay-Wells syndrome
An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Aughton-Hufnagle syndrome
A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Ankylosis of teeth
A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.
Piussan-Lenaerts-Mathieu syndrome
A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.
Thumb stiffness-brachydactyly-intellectual disability syndrome
Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
Isolated lissencephaly type 1 without known genetic defects
OBSOLETE: Rommen-Mueller-Sybert syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome
Non-syndromic gastroduodenal malformation
Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
Non-syndromic diaphragmatic or abdominal wall malformation
Syndromic diaphragmatic or abdominal wall malformation
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Structural developmental eye defect
OBSOLETE: Non-syndromic developmental defect of the eye
OBSOLETE: Syndromic developmental defect of the eye
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Central nervous system malformation
OBSOLETE: Non-syndromic central nervous system malformation
OBSOLETE: Syndrome with a central nervous system malformation as a major feature
Non-syndromic respiratory or mediastinal malformation
Syndromic respiratory or mediastinal malformation
BRRS
Myhre-Riley-Smith syndrome
A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
Syndrome with limb malformations as a major feature
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mayer-Rokitansky-Küster-Hauser syndrome type 2
Teebi-Kaurah syndrome
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
Worldwide AND has_cases/families_value : 4.0 (Case(s))
49,XXXXX syndrome
Penta-X
Poly-X
A rare sex-chromosome number anomaly characterized by the presence of five X chromosomes in females instead of the usual two. Patients present with global developmental delay, intellectual disability, musculoskeletal abnormalities (mostly small hands and feet, camptodactyly, clinodactyly, radioulnar synostosis), and craniofacial anomalies (such as microcephaly, plagiocephaly, upslanting palpebral fissures, hypertelorism, flat nasal bridge, ear malformations, microganthia). Cardiovascular malformations can sometimes be present as well as immunoglobulin anomalies and an increased susceptibility to infections. External genitalia are generally normal but gonadal dysfunction has been reported.
BBS
A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.
Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
Specific population AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000
Tunisia AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Cassia Stocco dos Santos syndrome
A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
14q22 microdeletion syndrome
Al Frayh-Facharzt-Haque syndrome
Monosomy 14q22
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum
Anophthalmia-hypothalamo-pituitary insufficiency syndrome
Fryns microphthalmia syndrome
Microphthalmia with facial clefting
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Worldwide AND has_cases/families_value : 17.0 (Case(s))
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Worldwide AND has_cases/families_value : 35.0 (Family(ies))
3-methylglutaconic aciduria type 2
BTHS
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia syndrome
MGA2
X-linked cardioskeletal myopathy and neutropenia
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Europe AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000
A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Johnson-Munson syndrome
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
Aphalangy-syndactyly-microcephaly syndrome
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.
Denmark AND has_birth_prevalence_average_value : 7.69 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Aplasia cutis congenita
OBSOLETE: Recessive aplasia cutis congenita of limbs
Bronspiegel-Zelnick syndrome
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Gershoni-Baruch-Leibo syndrome
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister).
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.
Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
Salt-losing tubular disorder, Henle's loop type
Salt-wasting tubulopathy, Henle's loop type
Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Kuwait AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Mardini-Nyhan syndrome
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.
Lung agenesis-heart defect-thumb anomalies syndrome
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
Radial deficiency-tibial hypoplasia syndrome
Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Van den Berghe-Dequecker syndrome
A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978.
Caudal appendage-hearing loss syndrome
Lynch-Lee-Murday syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994.
Oculomotor apraxia, Cogan type
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.
Kosztolanyi syndrome
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
Arachnodactyly-abnormal ossification-intellectual disability syndrome
BDCS
Follicular atrophoderma and basal cell carcinomas
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
Worldwide AND has_cases/families_value : 143.0 (Case(s))
De Die-Smulders-Vles-Fryns syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.
Arachnodactyly-intellectual disability-dysmorphism syndrome
Mandibulofacial dysostosis, Toriello type
X-linked branchial arch syndrome
X-linked mandibulofacial dysostosis with limb anomalies
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
Acrorenal defect-ectodermal dysplasia-diabetes syndrome
A rare genetic ectodermal dysplasia syndrome characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. There have been no further descriptions in the literature since 1992.
Isolated nose agenesis
An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Arrhinia-choanal atresia-microphthalmia syndrome
OBSOLETE: Arnold-Chiari malformation type 2
OBSOLETE: Chiari malformation type 2
OBSOLETE: Chiari malformation type II
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Open spinal dysraphism with a myelomeningocele
OBSOLETE: Arnold-Chiari malformation type II
OBSOLETE: Kashani-Strom-Utley syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
OBSOLETE: Pulmonary aortic stenosis obstructive uropathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic cerebral malformation due to abnormal neuronal migration
OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome
A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.
Worldwide AND has_cases/families_value : 2.0 (Family(ies))
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Europe AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000
Neurogenic arthrogryposis multiplex congenita
Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome
Distal arthrogryposis type 6
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
SMAX2
Spinal muscular atrophy with arthrogryposis
X-linked distal arthrogryposis multiplex congenita
X-linked spinal muscular atrophy type 2
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Worldwide AND has_cases/families_value : 14.0 (Family(ies))
Infantile-onset X-linked spinal muscular atrophy
DA1
Digitotalar dysmorphism
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate.
Arthrogryposis-like syndrome
Kuskokwim disease
A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Worldwide AND has_cases/families_value : 8.0 (Family(ies))
Beals syndrome
Beals-Hecht syndrome
CCA syndrome
Distal arthrogryposis type 9
A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Illum syndrome
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
Arthrogryposis multiplex congenita-whistling face syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Arthrogryposis multiplex congenita
OBSOLETE: Transient neonatal arthrogryposis
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
OBSOLETE: Arthrogryposis due to muscular dystrophy
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy.
BWS
Exomphalos-macroglossia-gigantism syndrome
Wiedemann-Beckwith syndrome
A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation.
Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
Jamaica AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000
Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
ABPA
Allergic aspergillosis
Hinson-Pepys disease
A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.
Isolated asymmetric crying facies
A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.
Congenital unilateral hypoplasia of depressor anguli oris
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Childhood-onset epilepsy syndrome
OBSOLETE: Facial asymmetry-temporal seizures syndrome
AOA1
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
France AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000
Iran, Islamic Republic of AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000
Iran, Islamic Republic of AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000
Israel AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
Korea, Republic of AND has_annual_incidence_average_value : 1.51 AND has_annual_incidence_range : 1-9 / 100 000
Portugal AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
Saudi Arabia AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
Spain AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000
Taiwan, Province of China AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000
Taiwan, Province of China AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000
Turkey AND has_point_prevalence_average_value : 225.0 AND has_point_prevalence_range : >1 / 1000
United Kingdom AND has_point_prevalence_average_value : 11.1 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.
Autosomal recessive cerebelloparenchymal disorder type 3
CAPOS syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ARCA
A group of rare early-onset ataxias with dementia characterized by degeneration or abnormal development of the cerebellum and spinal cord. It is a heterogeneous group including disorders that involves both the central and peripheral nervous system (and in some cases other systems and organs), therefore besides ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. It comprises more than half of the known genetic forms of ataxia including congenital ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias and ataxias associated with other features.
Europe AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000
Norway AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000
Portugal AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Cerebellar ataxia-ectodermal dysplasia syndrome
A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.
CENP-31
KIAA1823
centromere protein 31
AF17q25
KIAA0991
MSF1
Ov/Br septin
PNUTL4
SeptD1
peanut-like 4 (Drosophila)
Allgrove, triple-A
adracalin
aladin
4-aminobutyrate transaminase
GABA transaminase
GABA-T
GABAT
gamma-aminobutyrate aminotransferase
LI2
ATP binding cassette subfamily A member 12
ARMD2
CORD3
FFM
Stargardt disease
ATP binding cassette subfamily A member 4
ABC member 16, MDR/TAP subfamily
ABC16
PFIC-2
PGY4
SPGP
ATP binding cassette subfamily B member 11
GBD1
MDR2
PFIC-3
ATP binding cassette subfamily B member 4
ASAT
Atm1p
ATP binding cassette subfamily B member 7
DJS
MRP2
cMRP
ATP binding cassette subfamily C member 2
MLP1
MRP6
URG7
ATP binding cassette subfamily C member 6
ABC36
HHF1
MRP8
PHHI
SUR1
TNDM2
sulfonylurea receptor (hyperinsulinemia)
ATP binding cassette subfamily C member 8
CMD1O
SUR2
sulfonylurea receptor 2
ATP binding cassette subfamily C member 9
ALDP
AMN
adrenoleukodystrophy
ATP binding cassette subfamily D member 1
STSL
sterolin 1
ATP binding cassette subfamily G member 5
GBD4
gallbladder disease 4
sterolin 2
ATP binding cassette subfamily G member 8
CGI-58
NCIE2
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
JTK7
c-ABL
ABL proto-oncogene 1, non-receptor tyrosine kinase
EOCA
EOCARR
Harding ataxia
Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
Italy AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Early-onset cerebellar ataxia with retained tendon reflexes
ACAD1
MCAD
MCADH
medium-chain acyl-CoA dehydrogenase
ACAD3
SCAD
ACAD7
SBCAD
acyl-CoA dehydrogenase short/branched chain
ACAD6
LCACD
VLCAD
CSPGCP
aggrecan proteoglycan
THIL
acetoacetyl Coenzyme A thiolase
ACE1
CD143
peptidyl-dipeptidase A
PALMCOX
palmitoyl-CoA oxidase
ACS4
LACS4
lignoceroyl-CoA synthase
long-chain fatty-acid-Coenzyme A ligase 4
acyl-CoA synthetase long chain family member 4
NEM3
nemaline myopathy type 3
CMD1R
ACVR1A
ALK2
SKR1
ALK1
HHT
HHT2
activin receptor-like kinase 1
ADA1
ADAM-TS10
ADAM metallopeptidase with thrombospondin type 1 motif 10
TTP
VWFCP
vWF-CP
ADAM metallopeptidase with thrombospondin type 1 motif 13
ADAM-TS2
ADAMTS-3
NPI
PCINP
hPCPNI
procollagen I N-proteinase
procollagen N-endopeptidase
ADAM metallopeptidase with thrombospondin type 1 motif 2
D-3-phosphoglycerate dehydrogenase
PDG
PGDH
SERA
phosphorylase kinase regulatory subunit alpha 1
phosphorylase kinase regulatory subunit alpha 2
phosphorylase kinase regulatory subunit beta
CFEOM2
PMX2A
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
Ataxia-tapetoretinal degeneration syndrome
NBPhox
Phox2b
PAHX
PHYH1
Refsum disease
phytanoyl-CoA dioxygenase
DPM:GlcN-(acyl-)PI mannosyltransferase
GPI mannosyltransferase 1
GPI-MT-I
PIG-M
dol-P-Man dependent GPI mannosyltransferase
phosphatidylinositol glycan anchor biosynthesis class M
PI3K
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
BRPK
FAB1
KIAA0981
PIKfyve
PIP5K
ZFYVE29
zinc finger, FYVE domain containing 29
phosphoinositide kinase, FYVE-type zinc finger containing
ARP1
Brx1
IGDS
Otlx2
PBP
Pc-1
TRPP1
polycystin 1
transient receptor potential cation channel, subfamily P, member 1
polycystin 1, transient receptor potential channel interacting
PC2
PKD4
Pc-2
TRPP2
transient receptor potential cation channel, subfamily P, member 2
polycystin 2, transient receptor potential cation channel
ARPKD
FCYT
FPC
fibrocystin
fibrocystin/polyductin complex
polyductin
tigmin
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
B6P
ectodermal dysplasia/skin fragility syndrome
NBIA2
Neurodegeneration with brain iron accumulation 2
PARK14
PNPLA9
iPLA2
iPLA2beta
PCN
PLTN
ARHGEF44
puratrophin-1
pleckstrin homology and RhoGEF domain containing G4
LH1
lysyl hydroxlase 1
procollagen lysyl hydroxylase 1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
LH2
TLH
lysyl hydroxlase 2
procollagen lysyl hydroxylase 2
procollagen-lysine 5-dioxygenase
telopeptidyl lysyl hydroxylase
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
GPM6C
Pelizaeus-Merzbacher disease
MYL
RNF71
TRIM19
Ouvrier-Billson syndrome
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Benign paroxysmal tonic upgaze of childhood with ataxia
CDG1a
CDGS
Congenital disorder of glycosylation, type Ia
PMI
PMI1
mannose-6-phosphate isomerase
phosphomannose isomerase 1
GAS3
HMSNIA
HNPP
Sp110
MLH2
PMS1 homolog 1, mismatch repair system component
HNPCC4
MLH4
PMS-2
PMS1 homolog 2, mismatch repair system component
POLG1
POLGA
HP55
MTPOLB
DNA polymerase gamma 2, accessory subunit
RAD30A
XP-V
XPV
LGMD2O
MGAT1.2
protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
LGMD2K
dolichyl-phosphate-mannose-protein mannosyltransferase
Dolichyl-phosphate-mannose--protein mannosyltransferase
LGMD2N
CYPOR
NADPH--hemoprotein reductase
GHF-1
PIT-1
POU1F1a
growth hormone factor 1
pituitary transcript factor 1
BRN4
DFNX2
OTF9
Octamer-binding transcription factor 9
brain-4
BRN3C
RPF-1
Retina-derived POU-domain factor-1
NR1C3
PPARG1
PPARG2
PPARgamma
peroxisome proliferator activated receptor gamma
PPO
B55beta
PP2A subunit B isoform beta
PR52B
PR55-BETA
protein phosphatase 2 regulatory subunit Bbeta
CLN1
INCL
ceroid-lipofuscinosis, neuronal 1, infantile
RCCP1
proline rich mitotic checkpoint control factor
RP36
HPLH2
PFP
Perforin
perforin 1 (preforming protein)
Beta-mannosidase deficiency
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
Czech Republic AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000
Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000
Boucher-Neuhäuser syndrome
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.
Ataxia-hypogonadism-choroidal dystrophy syndrome
HAPO
JCAP
Jacobs camptodactyly-arthropathy-pericarditis syndrome
MSF
SZP
articular superficial zone protein
bG174L6.2 (MSF: megakaryocyte stimulating factor )
camptodactyly, arthropathy, coxa vara, pericarditis syndrome
lubricin
megakaryocyte stimulating factor
AAKG
AAKG2
AMPK gamma2
CMH6
WPWS
protein kinase AMP-activated non-catalytic subunit gamma 2
CNC1
Carney complex type 1
protein kinase cAMP-dependent type I regulatory subunit alpha
PKC-gamma
PKC?
PKCC
PKCγ
80K-H
AGE-R2
GIIB
GIIbeta
GluIIbeta
PKCSH
VASAP-60
advanced glycation end-product receptor 2
glucosidase 2 subunit beta
glucosidase II beta subunit
hepatocystin
AltPrP
CD230
Creutzfeldt-Jakob disease
Gerstmann-Strausler-Scheinker syndrome
PRP
fatal familial insomnia
coagulation factor XIV
prepro-protein C
protein C, inactivator of coagulation factors Va and VIIIa
HSPOX2
PIG6
POX
PRODH1
PRODH2
TP53I6
p53 Inducible gene 6
proline oxidase
BV8
KAL4
MIT1
PK2
protein Bv8 homolog
GPR73b
GPRg2
PKR2
HPRP3
Prp3
SNRNP90
U4/U6 small nuclear ribonucleoprotein Prp3
hPrp3
NY-BR-99
PRP31
SNRNP61
U4/U6 small nuclear ribonucleoprotein Prp31
hPrp31
PRPC8
Prp8
SNRNP220
hPrp8
CACD2
TSPAN22
choroidal dystrophy, central areolar 2
rd2
retinal peripherin
tetraspanin-22
CMTX5
DFNX1
PPRibP
PRS I
PRS-I
ribose-phosphate diphosphokinase 1
phosphoribosyl pyrophosphate synthetase 1
BSSP-3
MRT1
brain-specific serine protease 3
mental retardation, autosomal recessive 1
motopsin
neurotrypsin
ACPA
AGP7
C-ANCA
MBT
P29
PR-3
Wegener granulomatosis autoantigen
myeloblastin
serine proteinase, neutrophil
KIAA1620
precursor of saposins
saposin-A
saposin-B
saposin-C
saposin-D
variant Gaucher disease and variant metachromatic leukodystrophy
FAD
PS-1
PS1
PSNL1
familial Alzheimer Disease
AD3L
Alzheimer disease 3-like
PS-2
PS2
STM2
CD2 antigen-binding protein 1
CD2 cytoplasmic tail-binding protein
CD2BP1
CD2BP1L
CD2BP1S
H-PIP
PAPAS
PEST phosphatase-interacting protein 1
PSTPIP
proline-serine-threonine phosphatase interacting protein 1
BCNS
SLC65B1
SLC65B2
MMAC1
PTEN1
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
TEP1
mutated in multiple advanced cancers 1
PTF1-p48
bHLHa29
p48
pancreas associated transcription factor 1a
PTH1
parathormone
parathyrin
parathyroid hormone 1
prepro-PTH
preproparathyroid hormone
BPTP3
PTP2C
SH-PTP2
SH2 domain-containing protein tyrosine phosphatase 2
SHP-2
SHP2
protein tyrosine phosphatase non-receptor type 11
CD45R
GP180
LCA
LY5
glycoprotein 180
leukocyte-common antigen
protein tyrosine phosphatase receptor type C
PTPS
MLASA1
mitochondrial myopathy and sideroblastic anemia 1
tRNA pseudouridine(38-40) synthase
CD111
CLPED1
HIgR
Nectin-1
OFC7
PRR
PRR1
PVRR1
SK-12
nectin
PAF-1
PMP35
RNF72
ZWS3
Zellweger syndrome
peroxin 2
GSD6
Hers disease
glycogen phosphorylase, liver form
glycogen storage disease type VI
GSD5
McArdle syndrome
glycogen phosphorylase, muscle form
glycogen storage disease type V
myophosphorylase
glycogen phosphorylase, muscle associated
6,7-dihydropteridine reductase
DHPR
PKU2
SDR33C1
short chain dehydrogenase/reductase family 33C, member 1
GS2
RAB27
RAM
KIAA0066
RAB3GAP
RAB3GAP130
WARBM1
RAB3 GTPase activating protein catalytic subunit 1
Autosomal dominant spastic ataxia type 7
SPAX7
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
KIAA0839
RAB3-GAP150
SPG69
RAB3 GTPase activating non-catalytic protein subunit 2
BRCA1/BRCA2-containing complex, subunit 5
BRCC5
FANCR
HsRad51
RING finger protein 74
RNF74
V(D)J recombination-activating protein 1
recombination activating protein 1
KIAA1820
SMS
CMS1D
CMS1E
RNF205
rapsyn
receptor associated protein of the synapse
NR1B1
RAR
RAR-alpha
RARalpha
CM-AVM
GAP
Ras GTPase-activating protein 1
capillary malformation-arteriovenous malformation
p120 RAS GTPase activating protein
p120GAP
p120RASGAP
PPP1R130
prepro-retinoblastoma-associated protein
protein phosphatase 1, regulatory subunit 130
LCA12
LCA13
RP53
SDR7C2
short chain dehydrogenase/reductase family 7C, member 2
HSD17B9
SDR9C5
short chain dehydrogenase/reductase family 9C, member 5
RecQ4
Yip2a
receptor expression enhancing protein 1
PRO1598
CDHF12
CDHR16
PTC
RET receptor tyrosine kinase
RET51
cadherin-related family member 16
rearranged during transfection
RFC40
activator 1
ANKRA1
BLS
DNA-binding protein RFXANK
RFX-B
RFX-Bdelta4
ankyrin repeat-containing regulatory factor X-associated protein
regulatory factor X subunit B
regulatory factor X associated ankyrin containing protein
RGR-opsin
RP44
PERRS
RGS9L
regulator of G protein signalling 9
regulator of G protein signalling 9L
regulator of G-protein signaling 9L
Ataxo-opso-myoclonus syndrome
Dancing eye syndrome
Dancing eye-dancing feet syndrome
Kinsbourne syndrome
OMA syndrome
OMS
Opsoclonus-myoclonus-ataxia syndrome
POMA syndrome
Paraneoplastic opsoclonus-myoclonus
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
R9AP
RGS9
regulator of G protein signaling 9 binding protein
Ammonium transporter Rh type A
CD241
RH50A
SLC42A1
CD240CE
SLC42A4
CSNBAD1
OPN2
opsin 2, rod pigment
KIAA0340
RIM
RIM1
Rab3-interacting molecule
regulating synaptic membrane exocytosis 1
CRALBP
AGS4
RNASEHI
RNHIA
RNHL
AGS3
AYP1
Aicardi-Goutieres syndrome 3
HRCA1
RCA1
TRC8
translocation in renal carcinoma, chromosome 8
HGPS
RBIG1
ROM
TSPAN23
retinal outer segment membrane protein 1
receptor tyrosine kinase like orphan receptor 2
DCDC4A
ORP1
doublecortin domain containing 4A
oxygen-regulated protein 1
NM23-H10
NME10
TBCCD2
PAP-1
Pim-1 kinase associated protein
BCO family, member 3
BCO3
LCA2
all-trans-retinyl-palmitate hydrolase
rd12
retinol isomerase
CORDX1
CORD13
LCA6
RGI1
DXS648
DXS648E
L10
NOV
uL16
Fenton-Wilkinson-Toselano syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
Ataxia-photosensitivity-short stature syndrome
DBA
Diamond-Blackfan anemia
S19
eS19
S24
eS24
HU-3
RSK
RSK2
XLRS1
RSPONDIN
AMLCR1
PEBP2A2
aml1 oncogene
AML3
PEBP2A1
PEBP2aA1
PPP1R137
RYR
protein phosphatase 1, regulatory subunit 137
ARVC2
VTSIP
ARSACS
DNAJC29
KIAA0730
PPP1R138
SPAX6
protein phosphatase 1, regulatory subunit 138
ARRESTIN
RP47
arrestin 1
rod arrestin
Hsal1
ZNF794
ZNF797
KIAA2004
secretion associated Ras related GTPase 1B
SDH
CGI-97
SDO1
SDS
SWDS
DENND7B
KIAA1766
MTMR13
myotubularin related 13
delta(7)-sterol 5(6)-desaturase
lathosterol oxidase
GEFSP2
HBSCI
NAC1
Nav1.1
SMEI
sodium voltage-gated channel alpha subunit 1
sodium voltage-gated channel beta subunit 1
A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.
Spinocerebellar ataxia-dysmorphism syndrome
HBSCII
Nav1.2
sodium voltage-gated channel alpha subunit 2
HYPP
Nav1.4
SkM1
sodium voltage-gated channel alpha subunit 4
CDCD2
CMPD2
HB1
HB2
HBBD
HH1
ICCD
IVF
LQT3
Nav1.5
PFHB1
SSS1
long QT syndrome 3
sodium voltage-gated channel alpha subunit 5
ETHA
NE-NA
NENA
Nav1.7
PN1
sodium voltage-gated channel alpha subunit 9
ENaCalpha
amiloride-sensitive sodium channel subunit alpha
sodium channel epithelial 1 subunit alpha
ENaCbeta
Liddle syndrome
amiloride-sensitive sodium channel subunit beta
sodium channel epithelial 1 subunit beta
ENaCgamma
SCNEG
amiloride-sensitive sodium channel subunit gamma
sodium channel epithelial 1 subunit gamma
SCO1L
SDHF
flavoprotein subunit of complex II
succinate dehydrogenase [ubiquinone] flavoprotein subunit
succinate dehydrogenase complex flavoprotein subunit A
iron-sulfur subunit of complex II
succinate dehydrogenase [ubiquinone] iron-sulfur subunit
succinate dehydrogenase complex iron sulfur subunit B
CYB560
cybL
large subunit of cytochrome b
succinate dehydrgenase cytochrome b
succinate dehydrogenase cytochrome b560 subunit
succinate dehydrogenase complex subunit C
cybS
small subunit of cytochrome b
succinate dehydrogenase complex subunit D
DNAJC23
ERdj2
PRO2507
SEC63L
KIAA0331
M-SemaK
M-sema H
coll-5
RSS
SELN
IOSCA
Ohaha syndrome
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Worldwide AND has_cases/families_value : 29.0 (Case(s))
A1A
A1AT
AAT
PI1
alpha-1 antitrypsin
alpha-1 proteinase inhibitor
alpha-1-antitrypsin
alpha1AT
anti-elastase
protease inhibitor 1
protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
ATIII
antithrombin (aa 375-432)
antithrombin III
coding sequence signal peptide antithrombin part 1
signal peptide antithrombin part 1
PAI
plasminogen activator inhibitor, type I
C1-INH
C1-inhibitor
C1IN
C1INH
HAE1
HAE2
angioedema, hereditary
plasma protease C1 inhibitor
neuroserpin
AOA2
KIAA0625
STEX
Sen1
COLEC4
SP-A
SP-A1
surfactant, pulmonary-associated protein A1A
SP-B
BRICD6
BRICHOS domain containing 6
PSP-C
SMDP2
SP-C
50kD DAG
DMDA2
LGMD2D
SCARMD1
adhalin
limb girdle muscular dystrophy 2D
A3b
SGC
CMD1L
DAGD
LGMD2F
35kD dystrophin-associated glycoprotein
DAGA4
DMDA
Maghrebian myopathy (autosomal recessive)
SCARMD2
SCG3
TYPE
gamma sarcoglycan
limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)
HSS
MPS3A
SFMD
mucopolysaccharidosis type IIIA
sulfamidase
DSHP
Duncan's disease
EBVS
MTCP1
SAP
XLP
XLPD
CRBM
RES4-23
CMT4C
KIAA1985
SH3 domain and tetratricopeptide repeats 2
KIAA1650
PSAP2
SPANK-2
proline rich synapse associated protein 2
prosap2
shank postsynaptic density protein
shank3 postsynaptic density protein
SH3 and multiple ankyrin repeat domains 3
Arts syndrome
Lethal ataxia with hearing loss and optic atrophy
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Lethal ataxia with deafness and optic atrophy
HHG1
MCOPCB5
SHH signaling molecule
SMMCI
TPT
TPTPS
GCFX
PHOG
SHOX1
SHOXY
pseudoautosomal homeobox-containing osteogenic gene
KIAA1202
Protein Shroom4
SHAP
Second homolog of apical protein
Shrm4
Alpha-methylglucosidase
Oligo-1,6-glucosidase
Oligosaccharide alpha-1,6-glucosidase
alpha-glucosidase
BAP
ULG5
Six9
DCT1
DMT-1
DMT1
Natural resistance-associated macrophage protein 2
divalent cation transporter 1
divalent metal transporter 1
NCC
NCCT
Na-Cl symporter
TSC
Thiazide-sensitive sodium-chloride cotransporter
sodium-chloride co-transporter
K-Cl cotransporter 3
KCC3A
KCC3B
DXS128E
MCT7
MCT8
X-linked PEST-containing transporter
XPCT
monocarboxylate transporter 8
AST
ISSD
NSD
SIALIN
SLD
Salla disease
acidic sugar transporter
infantile sialic acid storage disorder
THTR1
ThT1
Thiamine transporter 1
thiamine-responsive megaloblastic anaemia
THTR2
hTHTR2
thTr-2
thiamine transporter 2
OCTN2
SCD
organic cation/carnitine transporter 2
systemic carnitine deficiency
ARALAR2
CITRIN
Calcium-binding mitochondrial carrier protein Aralar2
citrullinemia type II
mitochondrial aspartate glutamate carrier 2
Mitochondrial ornithine transporter 1
ORC1
lnc-HC
ornithine carrier 1
ornithine transporter 1
DNC
Deoxynucleotide carrier
MUP1
Mitochondrial thiamine pyrophosphate carrier
TPC
mitochondrial uncoupling protein 1
CAC
Mitochondrial carnitine/acylcarnitine carrier protein
carnitine-acylcarnitine carrier
carnitine/acylcarnitine translocase
Ataxia-hearing loss-intellectual disability syndrome
Reardon-Baraitser syndrome
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.
Worldwide AND has_cases/families_value : 8.0 (Case(s))
Ataxia-deafness-intellectual disability syndrome
EIEE3
Early infantile epileptic encephalopathy 3
GC-1
GC1
NET44
AAC1
ADP/ATP carrier 1
ADP/ATP translocase 1
DTDST
diastrophic dysplasia sulfate transporter
Chloride anion exchanger
PDS
Pendred syndrome
pendrin
GLUT-10
GLUT10
facilitative glucose transporter GLUT10
GLUT-2
NAPI-3B
NAPI-IIb
NPTIIb
NaPi-2b
NaPi2b
Sodium-dependent phosphate transport protein 2B
NPT2C
NPTIIc
NaPi-2c
Sodium-dependent phosphate transport protein 2C
FUCT1
GDP-fucose transporter 1
SERCA1
calcium pump 1
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
SERCA2
calcium pump 2
sarcoplasmic/endoplasmic reticulum calcium ATPase 2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ATP2C1A
KIAA1347
PMR1
SPCA1
calcium-transporting ATPase type 2C member 1
secretory pathway Ca2+/Mn2+ ATPase 1
ATPase secretory pathway Ca2+ transporting 1
(P)RR
APT6M8-9
ATP6M8-9
RENR
V-ATPase M8.9 subunit
prorenin receptor
renin receptor
ATPase H+ transporting accessory protein 2
RDRTA2
RTADR
Stv1
V-ATPase subunit a4
VPP2
Vph1
vacuolar proton pump subunit 2
RTA1B
Renal tubular acidosis with deafness
V-ATPase subunit B1
VATB
Vma2
copper pump 1
copper-transporting ATPase 1
Wilson disease
copper pump 2
copper-transporting ATPase 2
ATPIC
PFIC
phospholipid-transporting ATPase IC
ATP12
Atp12p
LP3663
ATP synthase mitochondrial F1 complex assembly factor 2
FRP1
MEC1
MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
SCKL
SCKL1
RAD54 homolog (S. cerevisiae)
XH2
XNP
ATX1
D6S504E
ATX10
E46L
ATX2
trinucleotide repeat containing 13
ATX3
JOS
ADCAII
Autosomal dominant cerebellar ataxia with retinal degeneration
OPCA3
SAGA associated factor 73 kDa homolog (S. cerevisiae)
SGF73
AU RNA binding methylglutaconyl-CoA hydratase
ADH
antidiuretic hormone
argipressin
copeptin
diabetes insipidus
neurohypophyseal
neurophysin II
prepro-AVP-NP II
prepro-arginine-vasopressin-neurophysin II
V2R
nephrogenic diabetes insipidus
axil
conductin
B3GTL
B3Glc-T
beta-1,3-glucosyltransferase
Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
N-acetyllactosamine synthase
beta4Gal-T1
lactose synthase A
XGALT-1
beta4Gal-T7
galactosyltransferase I
WSTF
Williams-Beuren syndrome chromosome region 10
Williams-Beuren syndrome chromosome region 9
transcription factor WSTF
bromodomain adjacent to zinc finger domain 1B
BBS2L1
PTHB1
parathyroid hormone responsive B1 gene
Autosomal recessive limb-girdle muscular dystrophy type 2E
Beta-sarcoglycan-related LGMD R4
Beta-sarcoglycanopathy
LGMD due to beta-sarcoglycan deficiency
LGMD type 2E
LGMD2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2E
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
MSU
maple syrup urine disease
branched chain keto acid dehydrogenase E1 subunit alpha
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
OVD1B
branched chain keto acid dehydrogenase E1 subunit beta
Bcl-2
PPP1R50
protein phosphatase 1, regulatory subunit 50
BCL-6 coreceptor
BCL6 interacting corepressor
KIAA1575
ALL
CML
PHL
BCS
BJS
Bjornstad syndrome
GRACILE syndrome
h-BCS
BCS1 ubiquinol-cytochrome c reductase complex chaperone
neurotrophin
BEST
BMD
Best disease
RP50
CP47
CP49
LIFL-L
phakinin
BLOC-1 subunit 3
BLOS3
Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
HPS8
Hermansky-Pudlak syndrome 8
biogenesis of lysosomal organelles complex 1 subunit 3
ALK3
CD292
bone morphogenetic protein receptor type 1A
ALK6
CDw293
bone morphogenetic protein receptor type 1B
BMPR-II
BMPR3
BRK-3
T-ALK
bone morphogenetic protein receptor type 2
BRAF-1
BRAF1
B-Raf proto-oncogene, serine/threonine kinase
BRCA1/BRCA2-containing complex, subunit 1
BRCC1
FANCS
Fanconi anemia, complementation group S
PPP1R53
RNF53
protein phosphatase 1, regulatory subunit 53
BRCA1/BRCA2-containing complex, subunit 2
BRCC2
FAD1
XRCC11
BACH1
BRCA1 interacting protein 1
BRCA1-associated C-terminal helicase
BRCA1/BRCA2-associated helicase 1
FANCJ
FANCJ helicase
seipin
BSCL2 lipid droplet biogenesis associated, seipin
BART
barttin CLCNK type accessory subunit beta
biocytinase
biotinase
ATK
Bruton's tyrosine kinase
PSCTK1
XLA
BUBR1
Bub1A
MAD3L
SSK1
BUB1 mitotic checkpoint serine/threonine kinase B
ORF20
TTDN1
tricothiodystrophy, non-photosensitive 1
M-phase specific PLK1 interacting protein
CA-II
CAII
Car2
CAIV
Car4
CSNB2B
APCA
Cav2.1
EA2
FHM
HPCA
calcium voltage-gated channel subunit alpha1 A
CACH2
CACN2
Cav1.2
LQT8
calcium voltage-gated channel subunit alpha1 C
CORDX3
CSNB2A
CSNBX2
Cav1.4
JM8
JMC8
OA2
calcium voltage-gated channel subunit alpha1 F
Cav1.1
hypoPP
calcium voltage-gated channel subunit alpha1 S
calcium voltage-gated channel auxiliary subunit beta 2
EJM4
calcium voltage-gated channel auxiliary subunit beta 4
CANP3
nCL-1
p94
FAS-associated death domain protein interleukin-1B-converting enzyme 2
FLICE-2
MCH4
PDIB2
FHH
GPRC2A
NSHPT
severe neonatal hyperparathyroidism
LGMD1C
LQT9
M-caveolin
VIP-21
VIP21
HIP4
Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome
Feigenbaum-Bergeron-Richardson syndrome
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Aki-1
Akt Kinase-Interacting Protein 1
Five prime repressor element under dual repression-binding protein 1
Freud-1
Lgd2
MRT3
TAPE
TBK1-associated protein in endolysosomes
lethal (2) giant discs homolog 2
mental retardation, nonsyndromic, autosomal recessive, 3
DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1
PTC1
thyroid papillary carcinoma
MGC4607
OSM
malcavernin
osmosensing scaffold for MEKK3
B-cell CLL/lymphoma 1
G1/S-specific cyclin D1
U21B31
parathyroid adenomatosis 1
CCT-epsilon
CCTE
KIAA0098
Bp50
p50
CD154
CD40 antigen ligand
CD40-L
CD40L
T-B cell-activating molecule
T-BAM
TNF-related activation protein
TRAP
gp39
hCD40L
hyper-IgM syndrome
tumor necrosis factor (ligand) superfamily member 5
TLX
TRA2.10
trophoblast-lymphocyte cross-reactive antigen
CDA-I
CDAI
FIHP
Paf1/RNA polymerase II complex component
parafibromin
CD324
E-Cadherin
uvomorulin
CDHR23
cadherin-related family member 23
CDHP
P-cadherin
PCAD
PSK-J3
C48
CEP215
centrosomin
CDK5 regulatory subunit associated protein 2
CFAP247
EIEE2
X-linked intellectual disability, Atkin type
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.
Worldwide AND has_cases/families_value : 14.0 (Case(s))
KIP2
P57
ARF
CAI2
CDK4I
CDKN2A/ARF Intron 2 lncRNA
CMM2
INK4
INK4a
MTS1
P16-INK4A
cyclin-dependent kinase 4 inhibitor A
inhibitor of cdk4 A
multiple tumour suppressor 1
p14
p14 alternate open reading frame
p14ARF
p16
p16INK4a
p19
p19 alternate open reading frame
p19Arf
D6S586E
BSSL
MODY8
bile salt-stimulated lipase
BM032
CPAP
LAG-3-associated protein
LAP
LIP1
SASS4
SCKL4
Sas-4
Seckel syndrome 4
Spindle assembly abnormal 4
centrosomal P4.1-associated protein
centrosome assembly and centriole elongation protein
3H11Ag
BBS14
Bardet-Biedl syndrome 14
CT87
JBTS5
Joubert syndrome 5
KIAA0373
LCA10
MKS4
Meckel syndrome, type 4
NPHP6
POC3
POC3 centriolar protein homolog (Chlamydomonas)
SLSN6
cancer/testis antigen 87
nephrocystin-6
rd16
BPI fold containing family F
BPIFF
CRYPTIC
ARMD4
ARMS1
FHL1
H factor 2 (complement)
HUS
age-related maculopathy susceptibility 1
beta-1H
C3b-INA
C3b-inactivator
C3bINA
KAF
Konglutinogen-activating factor
NEM7
nemaline myopathy type 7
ABC35
ATP-binding cassette sub-family C, member 7
CFTR/MRP
MRP7
TNR-CFTR
CHOACTase
KIAA1416
chromodomain helicase DNA binding protein 7
CDS1
CHK2
HuCds1
PP1425
bA444G7
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
TMEM70-related mitochondrial encephalo-cardio-myopathy
REP-1
Rab escort protein 1
Rab proteins geranylgeranyltransferase component A 1
CHMP2.5
VPS2 homolog B (S. cerevisiae)
VPS2B
acetylcholine receptor, nicotinic, alpha 1 (muscle)
cholinergic receptor nicotinic alpha 1 subunit
BFNC
acetylcholine receptor, nicotinic, alpha 4 (neuronal)
cholinergic receptor nicotinic alpha 4 subunit
acetylcholine receptor, nicotinic, beta 1 (muscle)
cholinergic receptor nicotinic beta 1 subunit
acetylcholine receptor, nicotinic, delta (muscle)
cholinergic receptor nicotinic delta subunit
ACHRE
acetylcholine receptor, nicotinic, epsilon (muscle)
cholinergic receptor nicotinic epsilon subunit
acetylcholine receptor, nicotinic, gamma (muscle)
cholinergic receptor nicotinic gamma subunit
C6ST
C6ST1
chondroitin 6 sulfotransferase 1
C2TA
NLR family, acid domain containing
NLRA
nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
class II major histocompatibility complex transactivator
CLC1
ClC-1
Thomsen disease, autosomal dominant
CLC5
ClC-5
DENTS
Dent disease
XLRH
XRN
hCIC-K2
hClC-K2
CLC-7
CLC7
ClC-7
OPTA2
PPP1R63
protein phosphatase 1, regulatory subunit 63
CLCKB
Chloride channel protein ClC-Kb
ClC-K2
ClC-Kb
hClC-Kb
ILVASC
SEMP1
senescence-associated epithelial membrane protein 1
G6PT
GSD1b
GSD1c
GSD1d
Glucose-6-phosphate exchanger SLC37A4
SPX4
glucose-6-phosphatase transporter
sugar-phosphate exchange protein 4
AWMS2
ZIP-4
ZIP4
ZRT/IRT-like protein 4
Zinc transporter ZIP4
zinc transporter 4
FPN
FPN1
HFE4
IREG1
MTP1
SLC40 iron transporter
ferroportin 1
iron regulated gene 1
Congenital hypotransferrinemia
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Worldwide AND has_cases/families_value : 16.0 (Case(s))
ADAR1
DRADA
Double-stranded RNA-specific adenosine deaminase
FRAXE
ASRG
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
glycosylasparaginase
GPATC7
GPATCH7
VG5Q
angiogenic factor with G-patch and FHA domains 1
GDE
glycogen debranching enzyme
glycogen storage disease type III
amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
LPAAT-beta
LPLAT2
lysophosphatidic acid acyltransferase, beta
lysophosphatidic acid acyltransferase-beta
lysophospholipid acyltransferase 2
1-acylglycerol-3-phosphate O-acyltransferase 2
ADAP-S
ADAS
ADHAPS
ADPS
ALDHPSY
Alkyldihydroxyacetonephosphate synthase, peroxisomal
alpha-1 antiproteinase, antitrypsin
AGT
AGT1
AGXT1
L-alanine: glyoxylate aminotransferase 1
PH1
SPT
Ser-PyrAT
TLH6
glycolicaciduria
oxalosis I
primary hyperoxaluria type 1
serine:pyruvate aminotransferase
AdoHcyase
SAHH
JBTS3
Jouberin
ORF1
AID
ARP2
CDA2
APS1
PGA1
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
ADK
Adk1
ALADH
PBGS
porphobilinogen synthase
ALAS-E
erythroid-specific delta-aminolevulinate synthase
sideroblastic/hypochromic anemia
P5CS
delta-1-pyrroline-5-carboxylate synthase
aldehyde dehydrogenase 18 family member A1
FALDH
fatty aldehyde dehydrogenase
aldehyde dehydrogenase 3 family member A2
Delta-1-pyrroline-5-carboxylate dehydrogenase
L-glutamate gamma-semialdehyde dehydrogenase
P5CDh
aldehyde dehydrogenase 4 family member A1
SSADH
SSDH
succinate-semialdehyde dehydrogenase
aldehyde dehydrogenase 5 family member A1
26g turgor protein homolog
EPD
P6c dehydrogenase
PDE
alpha-AASA dehydrogenase
alpha-aminoadipic semialdehyde dehydrogenase
antiquitin 1
delta1-piperideine-6-carboxylate dehydrogenease
aldehyde dehydrogenase 7 family member A1
CDG1K
HMAT1
HMT-1
Mat-1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
CDG1G
ECM39
dol-P-Man dependent alpha-1,6-mannosyltransferase
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
CDG1I
CDGIi
NET38
hALPG2
CDGS4
D16Ertd36e
NOT56L
Not56
carbohydrate deficient glycoprotein syndrome type IV
dol-P-Man dependent alpha-1,3- mannosyltransferase
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
MGC2840
dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
dol-P-Man dependent alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
KIAA0328
ALMS1 centrosome and basal body associated protein
12R-LOX
12R-lipoxygenase
E-LOX
Epidermal lipoxygenase-3
eLOX3
hydroperoxide isomerase
hydroperoxy icosatetraenoate dehydratase
hydroperoxy icosatetraenoate isomerase
TNALP
TNAP
TNSALP
tissue non-specific alkaline phosphatase
alkaline phosphatase, biomineralization associated
alsin
alsin Rho guanine nucleotide exchange factor ALS2
FPP
KIAA1788
PFM
amelogenesis imperfecta 1
MIF
MIS
Muellerian-inhibiting factor
Muellerian-inhibiting substance
MISR2
MISRII
Muellerian inhibiting substance type II receptor
AIM-1
OCA4
antigen in melanoma 1
oculocutaneous albinism type 4
Band 3 anion transport protein
CD233
EMPB3
Froese blood group
RTA1A
Swann blood group
Wright blood group
solute carrier family 4 member 1 (Diego blood group)
BTR1
FECD4
NaBC1
bicarbonate transporter related protein 1
sodium-coupled borate cotransporter 1
Electrogenic sodium bicarbonate cotransporter 1
HNBC1
KNBC
NBC1
NBC2
NBCe1
hhNMC
kNBC1
kidney type Na+/HCO3- cotransporter
pNBC
pancreatic sodium bicarbonate cotransporter
NAGT
SGLT-1
sodium/glucose cotransporter 1
NIS
sodium iodide symporter
B0AT1
Hartnup disease
Sodium-dependent neutral amino acid transporter B(0)AT1
broad neutral amino acid transporter 1
CRT
CRT-1
CRT1
CRTR
CT1
Sodium- and chloride-dependent creatine transporter 1
creatine transporter
Y+L amino acid transporter 1
Y+LAT1
y+LAT-1
BAT1
b(0,+)-type amino acid transporter 1
ANUP
ARS
ARS component B
ArsB
LY6-MT
LY6LS
MDM
lymphocyte antigen 6-like secreted
DPC4
ATP-driven annealing helicase
HARP
HHARP
HepA-related protein
SNF2 related chromatin remodeling annealing helicase 1
BAF47
INI-1
Ini1
PPP1R144
RDT
SNF5
Sfh1p
Snr1
hSNFS
integrase interactor 1
malignant rhabdoid tumor suppressor
protein phosphatase 1, regulatory subunit 144
sucrose nonfermenting, yeast, homolog-like 1
SWI/SNF related BAF chromatin remodeling complex subunit B1
DXS423E
KIAA0178
SB1.8
Smcb
structural maintenance of chromosomes 1A
BCD541
GEMIN1
SMNC
TDRD16B
tudor domain containing 16B
ASM
Niemann-Pick type A/B
acid sphingomyelinase
SLUGH
SLUGH1
SNAIL2
snail family transcriptional repressor 2
CEDNIK
SNAP-29
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
soluble 29 kDa NSF attachment protein
NACP
PD1
a-synuclein
alpha-synuclein
non A4 component of amyloid precursor
α-synuclein
HCERN3
RT-LI
SM protein N
SM-D
SMN
SNRNP-N
SNURF-SNRPN
small nuclear ribonucleoprotein N
tissue-specific splicing protein
small nuclear ribonucleoprotein polypeptide N
IPOA
GF1
HGF
SOS Ras/Rac guanine nucleotide exchange factor 1
DOM
SOX-10
WS2E
WS4
dominant megacolon, mouse, human homolog of
SRA1
Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
Europe AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
ADPSP
FSP2
KIAA1083
spatacsin
SPG11 vesicle trafficking associated, spatacsin
KIAA0610
TAHCCP1
ABHD21
ACP33
BM-019
GL010
MAST
SPG21 abhydrolase domain containing, maspardin
AD-FSP
FSP1
atlastin
CAR
SPG5C
paraplegin
SPG7 matrix AAA peptidase subunit, paraplegin
PCTT
PSTI
Spink3
TATI
LEKTI
LETKI
NETS
VAKTI
lymphoepithelial Kazal-type-related inhibitor
SDR38C1
Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
short chain dehydrogenase/reductase family 38C, member 1
EL2
elliptocytosis 2
spherocytosis, clinical type I
HSAN1
LCB1
SPTI
hLCB1
serine palmitoyltransferase long chain base subunit 1
3-oxo-5-alpha-steroid 4-dehydrogenase 2
SRPUL
sushi repeat containing protein X-linked 2
TDF
testis-determining factor
SMARCL1
SYT
SS18 subunit of BAF chromatin remodeling complex
CT5.1
cancer/testis antigen family 5, member 1
STARD1
StAR
StAR related lipid transfer (START) domain containing 1
ISGF-3
STAT91
transcription factor ISGF-3 components p91/p84
signal transducer and activator of transcription 1
signal transducer and activator of transcription 5B
LKB1
PJS
polarization-related protein LKB1
ARSC
arylsulfatase C
steryl-sulfatase
succinate--CoA ligase (ADP-forming)
succinate-CoA ligase ADP-forming subunit beta
PRO1280
SUFUH
SUFUXL
SUFU negative regulator of hedgehog signaling
FGE
UNQ3037
CEA
Congenital esophageal atresia
EA/TEF
Esophageal atresia with or without trachea-esophageal fistula
Oesophageal atresia
A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.
Austria AND has_birth_prevalence_average_value : 19.5 AND has_birth_prevalence_range : 1-5 / 10 000
Belgium AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000
Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 11.8 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 23.8 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 26.6 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 10.8 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 18.4 AND has_birth_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 34.4 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000
Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000
Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000
SHY1
surfeit locus protein 1
SURF1 cytochrome c oxidase assembly factor
Synapsin-1
EGP-1
TROP2
epithelial glycoprotein-1
trophoblast cell surface antigen 2
tumor associated calcium signal transducer 2
SCL
bHLHa17
TAL bHLH transcription factor 1, erythroid differentiation factor
D6S217E
PSF2
RING11
transporter 2, ATP binding cassette subfamily B member
Barth syndrome
TAZ1
XAP-2
transcriptional coactivator with PDZ-binding motif
tafazzin, phospholipid-lysophospholipid transacylase
KCS1
pac2
DKFZP43N024
WBSCR13
WS-betaTRP
Williams-Beuren syndrome chromosome region 13
Spinocerebellar ataxia 17
TBP1
TFIID
CATCH22
TBS 19
TPIT
TBX3-ISO
XHL
19 kDa sarcomeric protein
CMD1N
T-cap
TELE
telethonin
teneurin C-terminal associated peptide
ATP6N1C
ATP6V0A3
Atp6i
OC-116
OC116
T-cell immune response cDNA 7
TIRC7
V-ATPase subunit a3
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
TC2
macrocytic anemia
NON RARE IN EUROPE: Acquired pernicious anemia
NON RARE IN EUROPE: Addison-Biermer anemia
NON RARE IN EUROPE: Addisonian anemia
NON RARE IN EUROPE: Biermer anemia
NON RARE IN EUROPE: Biermer disease
NON RARE IN EUROPE: Juvenile onset pernicious anemia
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.
TCS
treacle
SCAN1
TEF-1
transcriptional enhancer factor 1
CD202b
TIE-2
TIE2
VMCM1
angiopoietin-1 receptor
PRO1557
PRO2086
serotransferrin
AP-2beta
AP2-B
CGI-75
dimethyladenosine transferase 1, mitochondrial
mtTFB
TFEA
bHLHe33
transcription factor E family, member A
transcription factor binding to IGHM enhancer 3
SPG57
TF6
HFE3
TFRC2
CED
Camurati-Engelmann disease
Diaphyseal dysplasia 1, progressive
TGFbeta
prepro-transforming growth factor beta-1
prepro-transforming growth factor beta-2
prepro-transforming growth factor beta-3
BIGH3
CDB1
CDGG1
ACVRLK4
ALK-5
ALK5
TBR-i
TBRI
activin A receptor type II-like kinase, 53kDa
transforming growth factor beta receptor 1
TBR-ii
TBRII
transforming growth factor beta receptor 2
K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
LI1
TGASE
TGK
TGMX
TGX
protein-glutamine gamma-glutamyltransferase 5
tyrosine 3-monooxygenase
BDCA-3
CD141
THRM
fetomodulin
MPL ligand
MPLLG
TPO
c-mpl ligand
megakaryocyte colony-stimulating factor
megakaryocyte growth and development factor
myeloproliferative leukemia virus oncogene ligand
prepro-thrombopoietin
thrombopoietin nirs
Atresia of small bowel
Atresia of small intestine
Jejunal atresia
Jejunoileal atresia
SBA
Small intestinal atresia
A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.
Austria AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
Belgium AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 14.5 AND has_birth_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000
Portugal AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
Reunion AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000
ERBA-BETA
GRTH
NR1A2
THR1
THRB1
THRB2
THRbeta
THRbeta1
TRb
TRbeta
TRbeta1
Thrbeta2
avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2
c-erbA-2
c-erbA-beta
generalized resistance to thyroid hormone
nuclear receptor subfamily 1 group A member 2
oncogene ERBA2
thyroid hormone receptor beta 1
DDP
MTS
translocase of inner mitochondrial membrane 8A
SCA31
mitochondrial thymidine kinase
GDD1
JBTS6
Meckelin
NPHP11
CD265
FEO
ODFR
RANK
TRANCE receptor
TRANCE-R
familial expansile osteolysis
osteoclast differentiation factor receptor
receptor activator of nuclear factor kappa B
OCIF
TR1
osteoclastogenesis inhibitory factor
CD267
IGAD2
TACI
CD120a
TNF-R
TNF-R-I
TNF-R55
TNFAR
TNFR60
FSSV
fsTnI
troponin I fast twitch 2
troponin I, fast-twitch skeletal muscle isoform
CMH7
TNNC1
cTNI
ANM
NEM5
STNT
TNT
TNTS
nemaline myopathy type 5
slow skeletal muscle troponin T
troponin T1, skeletal, slow
AMCD2B
troponin-T3, skeletal, fast
HXBL
Hexabrachion-like protein
TN-X
TNX
TNXBS
XBS
tenascin-X
A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities.
DQ2
torsin A
torsin-1A
torsinA
LFS1
Li-Fraumeni syndrome
P53
p53
EEC3
KET
NBP
OFC8
SHFM4
p40
p51
p53CP
p63
p73H
p73L
NEM4
nemaline myopathy type 4
TRK
TPX
LPIC
TPP I
TPP-1
lysosomal pepstatin-insensitive carboxypeptidase
translocated promoter region, nuclear basket protein
MIP-2A
SEDT
TRS20
ZNF547L
trafficking protein particle complex subunit 2
TREM-2
Trem2a
Trem2b
Trem2c
triggering receptor expressed on myeloid cells 2
DRN3
prothyroliberin
RNF82
TIF1A
Tif1a
hTIF1
RNF76
BBS11
HT2A
TATIP
KIAA1113
PTC7
RFG7
TF1G
TIF1G
TIF1GAMMA
TIFGAMMA
ret-fused gene 7
transcriptional intermediary factor 1 gamma
E3 ubiquitin-protein ligase TRIM37
KIAA0898
POB1
RING-B-box-coiled-coil protein
TEF3
MTO2
MTU1
mitochondrial tRNA-specific 2-thiouridylase 1
TRP6
transient receptor potential cation channel subfamily C member 6
A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.
Austria AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
Austria AND has_point_prevalence_range : 1-9 / 100 000
Belgium AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
Belgium AND has_point_prevalence_range : 1-9 / 100 000
Denmark AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
Denmark AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_point_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_point_prevalence_range : 1-9 / 100 000
Ireland AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000
Ireland AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_range : 1-9 / 100 000
Malta AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
Malta AND has_point_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_point_prevalence_range : 1-9 / 100 000
Reunion AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
Reunion AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_range : 1-5 / 10 000
CHAK2
transient receptor potential cation channel subfamily M member 6
GC79
LGCR
transcriptional repressor GATA binding 1
KIAA0243
LAM
hamartin
PPP1R160
protein phosphatase 1, regulatory subunit 160
tuberin
LGR3
BBS8
RP51
CMH9
CMPD4
LGMD2J
MYLK5
TMD
CTS
HsT2651
LCA15
TUBL1
BPES2
CRS1
H-twist
SCS
Saethre-Chotzen syndrome
bHLHa38
twist family bHLH transcription factor 1
OCA1
OCA1A
OCAIA
oculocutaneous albinism IA
DAP12
DNAX adaptor protein 12
DNAX-activation protein 12
KARAP
PLO-SL
killer activating receptor associated protein
transmembrane immune signaling adaptor TYROBP
CATB
GP75
OCA3
TRP
b-PROTEIN
ANCR
Angelman syndrome
E6-AP
ubiquitin protein ligase E3 component n-recognin 1
PGP9.5
UCHL-1
Uch-L1
ubiquitin thiolesterase
UGT1A
UDP glucuronosyltransferase family 1 member A1
Tamm-Horsfall glycoprotein
uromucoid
ODC
OPRT
orotate phosphoribosyl transferase and orotidine-5'-decarboxylase
Munc13-4
UNC-93B
UNC93
UDG
UNG1
UNG2
uracil-DNA glycosylase 1, uracil-DNA glycosylase 2
BUP1
congenital erythropoietic porphyria
AIE-75
NY-CO-37
NY-CO-38
PDZ-73
PDZ73
PDZD7C
harmonin
ANKS4A
Sans
RP39
AZFA
DFFRY
FAF-Y
azoospermia factor A
fat facets-like homolog (Drosophila)
ALS8
VAP-B
VAP-C
PG-M
versican proteoglycan
CDC48
IBMPFD
TERA
p97
transitional endoplasmic reticulum ATPase
1,25- dihydroxyvitamin D3 receptor
NR1I1
PPP1R163
protein phosphatase 1, regulatory subunit 163
VHL1
CARMQ1
CHRMQ1
VLDLRCH
BLTP5A
KIAA0986
bridge-like lipid transfer protein family member 5A
chorein
BLTP5B
bridge-like lipid transfer protein family member 5B
VPS33B late endosome and lysosome associated
PPCD1
Factor VIII related antigen
WASP
WASPA
eczema-thrombocytopenia
A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).
DIDMOAD
WFS
KMT3G
MMSET
multiple myeloma SET domain containing protein
nuclear receptor binding SET domain protein 2
NELF-A
negative elongation factor complex member A
CCN6
WISP-3
HSAN2
PPP1R167
protein phosphatase 1, regulatory subunit 167
WNT-3 proto-oncogene protein
WNT-4
Wnt-7a
proto-oncogene Wnt7a protein
RECQ3
RECQL2
AWT1
NPHS4
WAGR
WIT-2
WT-1
FOR
SDR41C1
WOX1
short chain dehydrogenase/reductase family 41C, member 1
XDH/XO
XOR
xanthine dehydrogenase/oxidase
xanthine oxidase
xanthine oxidoreductase
Kx antigen
McLeod syndrome
X1k
XKR1
X-linked Kx blood group antigen, Kell and VPS13A binding protein
XP1
XPAC
XPA, DNA damage recognition and repair factor
RAD4
XPCC
xeroderma pigmentosum group C protein
XPC complex subunit, DNA damage recognition and repair factor
STD
ZAP-70
tyrosine-protein kinase ZAP-70
zeta chain of T-cell receptor associated protein kinase 70
AREB6
BZP
FECD6
NIL-2-A
ZEB
Zfhep
Zfhx1a
KIAA0569
SIP-1
SIP1
SMAD interacting protein 1
FOG2
PR/SET domain 19
PRDM19
ZNF89B
hFOG-2
zinc finger protein, FOG family member 2
ZIC
ZNF201
Zinc finger protein of the cerebellum 1
HPE5
Zinc finger protein of the cerebellum 2
HTX
ZNF203
Zinc finger protein of the cerebellum 3
Zinc finger protein of the cerebellum 4
CAAX prenyl protease 1 homolog
FACE-1
Hutchinson-Gilford progeria syndrome
PRO1
STE24
Ste24p
HOMG3
PCLN1
hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
paracellin-1
CLIP
CLIP-115
KIAA0291
WSCR3
WSCR4
CAP-Gly domain containing linker protein 2
BTN1
JNCL
SLC29B1
juvenile neuronal ceroid lipofuscinosis
CLN3 lysosomal/endosomal transmembrane protein, battenin
lysosomal bis(monoacylglycero)phosphate synthase
nclf
TLCD6
CNBP1
RNF163
ZCCHC22
CCHC-type zinc finger nucleic acid binding protein
CNG1
RCNC1
RCNCa
RP49
cGMP-gated cation channel alpha-1
cyclic nucleotide gated channel subunit alpha 1
CCNC1
CCNCa
CNG3
cyclic nucleotide gated channel subunit alpha 3
cyclic nucleotide gated channel subunit beta 3
COCH-5B2
Schmid metaphyseal chondrodysplasia
CO11A1
STL2
collagen XI, alpha-1 polypeptide
HKE5
BP180
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.
Worldwide AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000
Pulmonary atresia with ventricular septal defect
KNO1
endostatin
OI4
alpha 2(I)-collagen
alpha-2 collagen type I
collagen I, alpha-2 polypeptide
collagen of skin, tendon and bone, alpha-2 chain
type I procollagen
STL1
tumstatin
CA44
collagen of basement membrane, alpha-4 chain
alpha 1 type V collagen
AB collagen
LC collagen
collagen VII, alpha-1 polypeptide
FECD1
PPCD
PPCD2
MED
EDM3
IDD
collagen type IX proteoglycan
AChE Q subunit
EAD
acetylcholinesterase-associated collagen
collagenic tail of endplate acetylcholinesterase
single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
collagen like tail subunit of asymmetric acetylcholinesterase
THBS5
TSP-5
TSP5
multiple epiphyseal dysplasia
thrombospondin-5
4-hydroxybenzoate polyprenyltransferase
CL640
heme O synthase
protoheme IX farnesyltransferase, mitochondrial
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
CEMCOX2
cytochrome c oxidase assembly factor COX15
caeruloplasmin
ferroxidase
CPAH
CPX
HCP
coproporphyria
homozygous coproporphyria
GATD6
carbamoyl-phosphate synthase (ammonia)
CPT1-L
L-CPT1
CPTASE
A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.
Sweden AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_range : Unknown
United Kingdom AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_range : Unknown
Pulmonary atresia-intact ventricular septum syndrome
LCA8
crumbs cell polarity complex component 1
MRT2
CBP
KAT3A
RTS
CIRRIN
CRD
LCA7
OTX3
orthodenticle homeobox 3
HSPB4
HSPB5
eye lens structural protein
CD131
IL5RB
beta common cytokine receptor
beta-GM-CSF receptor
betaGMR
colony stimulating factor 2 receptor subunit beta
CLP
CMD1M
MLP
cardiac LIM protein
muscle LIM protein
CST6
Epilepsy, progressive myoclonic 1
PME
stefin B
FCP1
CSE
CD152
CTLA-4
GSE
celiac disease
gluten-sensitive enteropathy
cytotoxic T-lymphocyte associated protein 4
armadillo
beta-catenin
CTNS-LSB
PQLC4
SLC66A4
cystinosin, lysosomal cystine transporter
carboxypeptidase C
carboxypeptidase Y-like kininase
carboxypeptidase-L
deamidase
lysosomal carboxypeptidase A
lysosomal protective protein
urinary kininase
DPP1
dipeptidyl peptidase 1
PKND
A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.
Belgium AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000
Czech Republic AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 5.5625 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Ireland AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000
Malta AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 11.1 AND has_birth_prevalence_range : 1-5 / 10 000
Slovakia AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000
Ukraine AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
IFCR
gp280
intrinsic factor-cobalamin receptor
dJ20C7.5
CD184
D2S201E
HM89
HSY3RR
LESTR
NPY3R
NPYR
NPYY3R
fusin
MCB5
Microsomal cytochrome b5
B5R
NADH-cytochrome b5 reductase 3
Cytochrome b-245 heavy chain
Cytochrome b558 subunit beta
GP91-PHOX
GP91PHOX
NADPH oxidase 2
NOX2
p91-PHOX
KIAA0849
USPL2
ubiquitin specific peptidase like 2
P450SCC
cholesterol monooxygenase (side-chain-cleaving)
cytochrome P450 family 11 subfamily A member 1
CPN1
FHI
steroid 11-beta-monooxygenase
cytochrome P450 family 11 subfamily B member 1
ALDOS
CPN2
CYP11BL
P450aldo
cytochrome P450 family 11 subfamily B member 2
CPT7
S17AH
Steroid 17-alpha-monooxygenase
cytochrome P450 family 17 subfamily A member 1
ARO
ARO1
CPV1
CYAR
P-450AROM
aromatase
cytochrome P450 family 19 subfamily A member 1
CP1B
cytochrome P450 family 1 subfamily B member 1
CA21H
CAH1
CPS1
Steroid 21-monooxygenase
cytochrome P450 family 21 subfamily A member 2
CP27
CTX
cerebrotendinous xanthomatosis
cytochrome P450 family 27 subfamily A member 1
1alpha(OH)ase
25-Hydroxyvitamin D3 1alpha-hydroxylase
CYP1
Calcidiol 1-monooxygenase
P450c1
VDDR I
cytochrome P450 family 27 subfamily B member 1
Vitamin D 25-hydroxylase
cytochrome P450 family 2 subfamily R member 1
CYP4AH1
cytochrome P450 family 4 subfamily V member 2
cytochrome P450 family 7 subfamily B member 1
D2HGD
SPGY
pDP1678
DBM
dopamine beta-monooxygenase
BCKAD-E2
BCKDH-E2
BCOADC-E2
branched chain 2-oxo-acid dehydrogenase complex component E2
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
dihydrolipoamide branched chain transacylase E2
A-SCID
ARTEMIS
PSO2 homolog (S. cerevisiae)
SNM1C
DSPG2
SLRR1B
decorin proteoglycan
DBCN
LISX
SCLH
XLIS
doublecortex
DDB p48 subunit
DDBB
UV-DDB2
UV-damaged DNA-binding protein 2
XPE
xeroderma pigmentosum group E protein
AADC
aromatic L-amino acid decarboxylase
CMD1I
CSM1
CSM2
LGMD2R
cardiomyopathy, dilated 1I
intermediate filament protein
ICERE-1
inversely correlated with estrogen receptor expression
dGK
3beta-hydroxysterol delta24 reductase
Delta(24)-sterol reductase
KIAA0018
seladin-1
HHG-3
LFHL1
hDIA1
mDia1
mammalian diaphanous related formin 1
Cbf5
H/ACA ribonucleoprotein complex subunit 4
NAP57
NOLA4
XAP101
dyskerin
E2 component of pyruvate dehydrogenase complex
PDC-E2
dihydrolipoyllysine-residue acetyltransferase
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Atrichia with papular lesions
OBSOLETE: Atrichia-intellectual disability and growth delay syndrome
DLDH
E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
OGDC-E3
pyruvate dehydrogenase complex subunit E3, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, glycine cleavage system protein L
SCDO1
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
muscular dystrophy, Duchenne and Becker types
DM protein kinase
DM1PK
DMK
MDPK
MT-PK
Myotonin-protein kinase
dystrophia myotonica 1
myotonic dystrophy associated protein kinase
myotonin protein kinase A
thymopoietin homolog
CILD7
DNAHBL
DNAHC11
DNHBL
DPL11
Dnahc11
dynein, ciliary, heavy chain 11
dynein, heavy chain beta-like
CILD3
Dnahc5
HL1
KTGNR
PCD
dynein heavy chain 5
CILD1
DIC1
oda6
CMT2M
CMTDI1
DI-CMTB
DYN2
DYNII
cytoskeletal protein
dynamin II
Dok-7
ALG7
CDG-Ij
DGPT
GPT
GlcNAc-1-P transferase 1
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
CDGIE
DPM synthase complex, catalytic subunit
MPDS
dolichyl-phosphate mannosyltransferase subunit 1, catalytic
DHPDHase
DPD
Dihydrothymine dehydrogenase
Dihydrouracil dehydrogenase
DHPase
D2R
dopamine D2 receptor
CDHF2
CDHF4
CDHF5
DPI
DPII
KPPS2
PPKS2
DMP3
DRP3
DTN
DTN-1
DTN-2
DTN-3
dystrophin-related protein 3
BLOC1S8
DBND
Dysbindin
HPS7
My031
biogenesis of lysosomal organelles complex-1, subunit 8
dysbindin-1
LNOX2
NADH/NADPH thyroid oxidase p138-tox
NADPH oxidase/peroxidase DUOX2
NADPH thyroid oxidase 2
P138(TOX)
P138-TOX
THOX2
dual oxidase-like domains 2
flavoprotein NADPH oxidase
nicotinamide adenine dinucleotide phosphate oxidase
DMC
SMC
FER1L1
fer-1-like family member 1
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
CHO2
CPXD
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
D8D7I
sterol 8-isomerase
ED1-A1
ED1-A2
EDA-A1
EDA-A2
EDA1
HED
XHED
XLHED
ED1R
ED5
EDA1R
EDA3
Edar
Tumor necrosis factor receptor superfamily member EDAR
ectodysplasin A1 receptor
Ectodysplasin-A receptor-associated adapter protein
crinkled
ET3
ETB
FBLN3
MTLV
fibulin 3
EGF-like fibulin extracellular matrix protein 1
FBLN4
UPH1
fibulin 4
EGF-like fibulin extracellular matrix protein 2
POC9
RIB72
myoclonin-1
EPH-related receptor tyrosine kinase ligand 2
Elk-L
LERK2
ERBB1
ERRP
erb-b2 receptor tyrosine kinase 1
erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
Krox-20 homolog, Drosophila
PEK
PERK
PKR-like ER kinase
PRKR-like endoplasmic reticulum kinase
pancreatic eIF-2alpha kinase
eukaryotic translation initiation factor 2 alpha kinase 3
EIF-2B
EIF-2Balpha
EIF2BA
EIF2Balpha
eukaryotic translation initiation factor 2B subunit alpha
EIF-2Bbeta
EIF2B
EIF2Bbeta
eukaryotic translation initiation factor 2B subunit beta
EIF2Bgamma
eukaryotic translation initiation factor 2B subunit gamma
EIF2Bdelta
eukaryotic translation initiation factor 2B subunit delta
EIF2Bepsilon
eukaryotic translation initiation factor 2B subunit epsilon
AMPD isoform M
MAD
MADA
myoadenylate deaminase
skeletal muscle AMPD
erythrocyte-specific AMP deaminase
GCST
NKH
glycine cleavage system protein T
nonketotic hyperglycinemia
SPH1
ANK
CPPDD
HANK
Mineralization regulator ANKH
SLC62A1
solute carrier family 62, member 1
ANKH inorganic pyrophosphate transport regulator
CMG-2
CMG2
capillary morphogenesis protein 2
ADTB3A
HPS2
beta-3A
adaptor related protein complex 3 subunit beta 1
APOA-V
RAP3
ApoB-100
alpha-sAPP
peptidase nexin-II
Hemifacial atrophy
PHA
Parry-Romberg syndrome
Progressive facial hemiatrophy
Romberg syndrome
Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.
United States AND has_point_prevalence_average_value : 0.143 AND has_point_prevalence_range : 1-9 / 1 000 000
AOA
EAOH
EOAHA
BIG2
Brefeldin A-inhibited guanine nucleotide-exchange protein 2
ARF guanine nucleotide exchange factor 2
arginase-1
ADP-ribosylation factor-like tumor suppressor gene 1
ARLTS1
RP55
ASA
metachromatic leucodystrophy
ASB
chondrodysplasia punctata 1
CT121
EIEE1
ISSX
cancer/testis antigen 121
ACDase
PHP32
acid ceramidase
acylsphingosine deacylase
ASAL
ACY2
ASP
Canavan disease
aminoacylase 2
cytosolic aspartoacylase
âcytosolic aspartoacylaseâ
Calmbp1
assembly factor for spindle microtubules
CTLN1
BNIP-H
Cayman ataxia
caytaxin
ATCAY kinesin light chain interacting caytaxin
TEL1
TEL1, telomere maintenance 1, homolog (S. cerevisiae)
TELO1
B37
ATPVA
ATPVC
KIAA0566
phospholipid-transporting ATPase VA
ATPase phospholipid transporting 10A (putative)
CLN12
HSA9947
FHM2
sodium pump subunit alpha-2
sodium-potassium ATPase catalytic subunit alpha-2
sodium/potassium-transporting ATPase subunit alpha-2
ATPase Na+/K+ transporting subunit alpha 2
ADOA+
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal dominant optic atrophy plus syndrome
sodium pump subunit alpha-3
sodium-potassium ATPase catalytic subunit alpha-3
sodium/potassium-transporting ATPase subunit alpha-3
ATPase Na+/K+ transporting subunit alpha 3
HLE
HNE
PMN Elastase
PMN-E
leukocyte elastase
medullasin
neutrophil elastase
polymorphonuclear leukocyte elastase
HPC2
tRNase Z (long form)
SVAS
WBS
Williams-Beuren syndrome
supravalvular aortic stenosis
tropoelastin
CT118
cancer/testis antigen 118
LEM domain containing 5
LEMD5
STA
CD105
END
HHT1
beta-enolase
muscle enriched enolase
PC-1
PCA1
ectonucleotide pyrophosphatase/phosphodiesterase 1
KAT3B
histone acetyltransferase p300
LDE
EPO-R
CAST2
ELKS
KIAA1081
ELKS/RAB6-interacting/CAST family member 1
EM9
MAG
TFIIH
TFIIH basal transcription factor complex helicase XPB subunit
excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
ERCC excision repair 2, TFIIH core complex helicase subunit
FANCQ
RAD1
xeroderma pigmentosum, complementation group F
ERCC excision repair 4, endonuclease catalytic subunit
ARMD5
CSB
Cockayne syndrome B protein
RAD26
ERCC excision repair 6, chromatin remodeling factor
Autosomal dominant benign distal spinal muscular atrophy
Congenital benign spinal muscular atrophy with contractures
Congenital nonprogressive spinal muscular atrophy
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
Autosomal dominant congenital benign spinal muscular atrophy
CSA
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ETS-related gene
TMPRSS2-ERG prostate cancer specific
erg-3
p55
transcriptional regulator ERG (transforming protein ERG)
v-ets erythroblastosis virus E26 oncogene like
EFO2
establishment of sister chromatid cohesion N-acetyltransferase 2
E2 receptor alpha
ER-alpha
Era
NR3A1
estradiol receptor
estrogen receptor alpha
nuclear receptor subfamily 3 group A member 1
oestrogen receptor alpha
EMA
GA2
MADD
glutaric aciduria II
multiple acyl-CoA dehydrogenase deficiency
electron transfer flavoprotein subunit alpha
electron transfer flavoprotein subunit beta
ETFQO
electron transfer flavoprotein dehydrogenase
HSCO
YF13H12
ER81
DWF-1
EVC1
LBN
limbin
EWS
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
ttv
SOTV
EYA transcriptional coactivator and phosphatase 1
EYA transcriptional coactivator and phosphatase 4
FXI
plasma thromboplastin antecedent
Plasma coagulation Factor XIIa
FXIIIB
prepro-coagulation factor II
FVII coagulation protein
eptacog alfa
factor VII
DXS1253E
FVIII
Factor VIIIF8B
HEMA
hemophilia A
Christmas disease
FIX
Factor IX
hemophilia B
plasma thromboplastic component
fumarylacetoacetase
DRCTNNB1A
HCC
HYCC1
down regulated by Ctnnb1, a
hyccin
hyccin PI4KA lipid kinase complex subunit 1
FA-H
FAA
FAH
Hamano-Tsukamoto syndrome
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
FAAP95
FAB
FA3
FAC
FA-D2
FAE
FAF
DNA repair protein XRCC9
FAG
X-ray repair complementing defective repair in Chinese hamster cells 9
X-ray repair, complementing defective, in Chinese hamster, 9
FAAP43
Pog
FAAP250
APO-1
CD95
TNF receptor superfamily member 6
CD178
FasL
ARMD3
DANCE
EVEC
UP50
developmental arteries and neural crest EGF-like
embryonic vascular EGF-like repeat-containing protein
MASS
Marfan syndrome
OCTD
SGS
asprosin
DA9
fibrillin 5
LGMD2M
Ribitol-5-phosphate transferase
protoporphyria
protoporphyrin ferrochelatase
ZFYVE3
FHF4
SCA27
BFGFR
CD331
CEK
FLG
N-SAM
Pfeiffer syndrome
CD333
CEK2
JTK4
fumarase
AP3Aase
FRA3B
bis(5'-adenosyl)-triphosphatase
fragile histidine triad diadenosine triphosphatase
FIP1
hFip1
factor interacting with PAPOLA and CPSF1
FKTR
LGMD2I
MDC1C
Ribitol 5-phosphate transferase
BHD
DENND8B
FLG-1
FLG1
EWSR2
FLI-1
SIC-1
Fli-1 proto-oncogene, ETS transcription factor
ABP-280
actin binding protein 280
alpha filamin
ABP-278
FH1
TABP
TAP
actin binding protein 278
beta filamin
ABPL
gamma filamin
Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4
PCL
VEGF receptor-3
VEGFR-3
VEGFR3
primary congenital lymphedema
vascular endothelial growth factor receptor 3
Dimethylaniline monooxygenase [N-oxide-forming] 3
FMOII
flavin containing dimethylaniline monoxygenase 3
FMRP
FRAXA
ARA
FREAC3
IGDA
IHG1
MFH-1
mesenchyme forkhead 1
HFKH4
TTF-2
thyroid transcription factor 2
Auralcephalosyndactyly
Kurczynski-Casperson syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Saethre-Chotzen syndrome
FREAC8
BPES1
FKH1
AIID
DIETER
JM2
PIDX
SCURFIN
XPID
KIAA1500
Fraser extracellular matrix complex subunit 1
FRG1A
FSG1
RFSN
RP30
retinal fascin
fascin actin-bundling protein 2, retinal
follitropin, beta chain
follicle stimulating hormone subunit beta
FSHRO
LGR1
FTL1
L apoferritin
NBIA3
ferritin L subunit
ferritin L-chain
ferritin light polypeptide-like 3
neurodegeneration with brain iron accumulation 3
CDLIV
JM23
SPB1
TRM7
TRMT7
tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
tRNA methyltransferase 7 homolog (S. cerevisiae)
a-L-fucosidase 1
tissue fucosidase
α-L-fucosidase 1
CyaY
FARR
X25
FXYD domain containing ion transport regulator 2
CD344
G6PC1
GSD1a
glycogen storage disease type I, von Gierke disease
glucose-6-phosphatase catalytic subunit 1
G6PD1
Pompe disease
glycogen storage disease type II
lysosomal alpha-glucosidase
EJM5
GABA(A) receptor, alpha 1
gamma-aminobutyric acid type A receptor subunit alpha1
GABA(A) receptor, delta
GABAARdelta
gamma-aminobutyric acid type A receptor subunit delta
GABA(A) receptor, gamma 2
gamma-aminobutyric acid type A receptor subunit gamma2
Krabbe disease
SDR1E1
UDP-glucose 4-epimerase
short chain dehydrogenase/reductase family 1E, member 1
Hornstein-Knickenberg syndrome
A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax.
GALNAC6S
GAS
GalN6S
Morquio syndrome
N-acetylgalactosamine-6-sulfatase
chondroitinase
chondroitinsulfatase
galactose-6-sulfate sulfatase
mucopolysaccharidosis type IVA
GalNAc-T3
HFTC
HHS
polypeptide GalNAc transferase 3
polypeptide N-acetylgalactosaminyltransferase 3
galactose-1-phosphate uridylyltransferase
PIG2
TP53I2
GAN1
GIG
KLHL16
kelch-like family member 16
DSMAV
GlyRS
SMAD1
glycine tRNA ligase
ERYF1
GATA-1
NF-E1
NFE1
nuclear factor, erythroid 1
HDR
AGAT
L-arginine:glycine amidinotransferase
GBA1
glucocerebrosidase
Andersen disease
glycogen branching enzyme
glycogen storage disease type IV
ACAD5
GCD
DYT5a
GTP cyclohydrolase I
GTPCH1
dopa-responsive dystonia
HK4
HKIV
hexokinase 4
GCS
glutamate-cysteine ligase catalytic subunit
lipoic acid-containing protein
CMT2K
CMT4
ganglioside induced differentiation associated protein 1
BMP14
CDMP1
cartilage-derived morphogenetic protein-1
OPHN2
RABGDIA
XAP-4
mental retardation, X-linked 41
mental retardation, X-linked 48
oligophrenin-2
rab GDP-dissociation inhibitor, alpha
ATF1
ATF2
HFB1-GDNF
astrocyte-derived trophic factor
glial cell line derived neurotrophic factor
glial derived neurotrophic factor
GFI-1
GFI1A
growth factor independent 1 transcriptional repressor
VKCFD1
peptidyl-glutamate 4-carboxylase
vitamin K-dependent gamma-carboxylase
GH-N
GHN
hGH
hGH-N
pituitary growth hormone
somatotropin
GHBP
growth hormone binding protein
growth hormone releasing hormone receptor
IFMH
INF
TCN3
A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.
Worldwide AND has_cases/families_value : 100.0 (Case(s))
CX43
ODD
ODOD
SDTY3
connexin 43
oculodentodigital dysplasia (syndactyly type III)
CX46.6
CX47
SPG44
connexin 47
CX46
connexin 46
CX50
connexin 50
CX32
Charcot-Marie-Tooth neuropathy, X-linked
connexin 32
CX26
NSRD1
connexin 26
CX31
connexin 31
CX30.3
connexin 30.3
CX30
EDH
connexin 30
GK1
GKD
GALA
EBP
beta-galactosidase
elastin binding protein
GCSP
glycine cleavage system protein P
glycine dehydrogenase
ACLS
DNA-binding protein
PAP-A
PAPA
PAPA1
PAPB
PPDIV
oncogene GLI3
zinc finger protein GLI3
FAP48
FAP68
FKBPAP
GLML
GVM
stiff person syndrome
GDH
GDH1
hGDH1
GM2-AP
GM2-activator protein
GM2AP
SAP-3
cerebroside sulfate activator protein
sphingolipid activator protein 3
G protein subunit alpha S
GNASXL
GPSA
NESP
NESP55
SCG6
SgVI
secretogranin VI
CSNBAD3
ACHM4
Uae1
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
DAP-AT
DAPAT
DHAPAT
dihydroxyacetone phosphate acyltransferase
glycerone-phosphate O-acyltransferase
KIAA1208
MGC4170
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
GlcNAc-phosphotransferase gamma-subunit
N-acetylglucosamine-1-phosphate transferase subunit gamma
LHRHR
N-acetylglucosamine-6-sulfatase
Sanfilippo disease IIID
GOLIM5
golgi integral membrane protein 5
golgin-84
ret-II
rfg5
CD42b
GPIbalpha
HPA-2
human platelet antigen 2
platelet glycoprotein Ib alpha chain
CD42c
GPIbbeta
platelet glycoprotein Ib beta chain
CD42a
GPIX
platelet glycoprotein IX
DGSX
OCI-5
SGB
SGBS
SGBS1
glypican proteoglycan 3
GEPH
GPH
KIAA1385
AMF
NLK
ocular albinism 1
TM7LN4
TM7XN1
FEB4
KIAA0686
VLGR1
PH2
primary hyperoxaluria type 2
glyoxylate and hydroxypyruvate reductase
AMPA receptor subunit GluA3
GLURC
GluA3
GluR-3
GluR-C
GluR-K3
Glutamate receptor 3
MRX94
iGluR3
glutamate ionotropic receptor AMPA type subunit 3
GPRK1
CSNB1B
GPRC1F
MGLUR6
mGlu6
amyloidosis, Finnish type
GRase
glutathione S-reductase
Balantidiosis
Ciliary dysentery
Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.
DNA repair syndrome trichothiodystrophy group A
TFB5
TTD-A
TTDA
general transcription factor IIH subunit 5
BAP-135
BTKAP1
DIWS
IB291
SPIN
TFII-I
BEN
Cream1
GTF3
MusTRD1
RBAP2
WBSCR12
binding factor for early enhancer
COD3
CORD14
GCAP
GCAP-1
GCAP-I
GCAP1
cone dystrophy 3
CYGD
LCA1
Leber congenital amaurosis 1
RETGC-1
ROS-GC
ROS-GC1
retGC
retinal guanylate cyclase 1
rod outer segment membrane guanylate cyclase
HADH1
SCHAD
HEPC
HFE2B
LEAP-1
LEAP1
HAX-1
HCLS1 (and PKD2) associated protein
HCLSBP1
HS1BP1
HBA-T2
CD113t-C
beta-globin
CCHL
cytochrome c heme-lyase
holocytochrome-c synthetase
hyperpolarization activated cyclic nucleotide gated potassium channel 4
PPOX
orexin
prepro-orexin
IT15
ANF
RPX
Rathke's pouch homeobox
GM2 gangliosidosis
Tay Sachs disease
beta-hexosaminidase subunit alpha
beta-hexosaminidase subunit beta
HGO
homogentisate oxidase
HGNAT
heparan-alpha-glucosaminide N-acetyltransferase
ZBTB29
ZNF901
HKI
major histocompatibility complex, class I, B
major histocompatibility complex, class II, DR alpha
major histocompatibility complex, class II, DR beta 1
HCS
biotin--protein ligase
HMG-CoA lyase
HMGCL1
Hydroxymethylglutaryl-CoA lyase, mitochondrial
hydroxymethylglutaricaciduria
hydroxymethylglutaryl-CoA lyase
3-hydroxy-3-methylglutaryl-CoA synthase 2
HNF4
NR2A1
synpolydactyly
4-HPPD
4HPPD
GLOD3
HPPD
glyoxalase domain containing 3
HGPRT
Lesch-Nyhan syndrome
hypoxanthine guanine phosphoribosyl transferase
hypoxanthine phosphoribosyltransferase 1
BLOC3S1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
BLOC2S1
SUTAL
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
BLOC3S2
KIAA1667
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
AIBP63
BLOC2S2
RU2
Ruby-eye protein 2 homolog
alpha-integrin-binding protein 63
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
BLOC2S3
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
KDM3D
lysine demethylase 3D
HR lysine demethylase and nuclear receptor corepressor
A rare syndromic craniosynostosis characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
SDR9C3
short chain dehydrogenase/reductase family 9C, member 3
17b-HSD10
AB-binding alcohol dehydrogenase
ABAD
CAMR
ERAB
MHBD
MRPP2
SDR5C1
mitochondrial RNase P subunit 2
short chain dehydrogenase/reductase family 5C, member 1
type 10 17b-HSD
type 10 17beta-hydroxysteroid dehydrogenase
SDR12C2
short chain dehydrogenase/reductase family 12C, member 2
17-beta-HSD IV
17-beta-hydroxysteroid dehydrogenase 4
17beta-estradiol dehydrogenase type IV
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
D-3-hydroxyacyl-CoA dehydratase
D-bifunctional protein, peroxisomal
DBP
MFE-2
SDR8C1
beta-hydroxyacyl dehydrogenase
beta-keto-reductase
peroxisomal multifunctional protein 2
short chain dehydrogenase/reductase family 8C, member 1
SDR11E2
short chain dehydrogenase/reductase family 11E, member 2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
C(27)-3BETA-HSD
SDR11E3
short chain dehydrogenase/reductase family 11E, member 3
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
CMT2F
HSP27
HSP28
Hsp25
heat shock protein family B (small) member 1
CMT2L
E2IG1
H11
HSP22
HspB8
heat shock protein family B (small) member 8
PASS1
GROEL
GroEL
HSP60
heat shock protein family D (Hsp60) member 1
PRCAN
endorepellin
perlecan
perlecan proteoglycan
OMI
PARK13
FUS2
HYAL-1
LUCA1
NAT6
HYLS1 centriolar and ciliogenesis associated
AILIM
CD278
activation-inducible lymphocyte immunomediatory molecule
Hunter syndrome
ID2S
MPS1
MPSI
mucopolysaccharidosis type I
CD119
AF-1
alpha 4
α4
IGF
IGF-I
IGF1A
IGFI
somatomedin C
immunoglobulin heavy constant gamma 1 (G1m marker)
CATF1
CMT2S
HCSA
HMN6
SMARD1
SMUBP2
ZFAND7
cardiac transcription factor 1
zinc finger, AN1-type domain 7
CD179B
IGL5
IGVPB
lambda 5
immunoglobulin lambda like polypeptide 1
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth syndrome
Hypothyroidism-cleft palate syndrome
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
BDA1
HHG2
IKAP
IKI3
TOT1
elongator acetyltransferase complex subunit 1
14.7K (adenovirus E3 protein) interacting protein 3
FIP-3
FIP3
Fip3p
I-kappa-B kinase subunit gamma
IKK-gamma
IKKAP1
IKKG
IkB kinase subunit gamma
IkB kinase-associated protein 1
NEMO
NF-kappa-B essential modulator
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
CSIF
IL-10
IL10A
T-cell growth inhibitory factor
TGIF
cytokine synthesis inhibitory factor
CLMF
CLMF2
IL-12B
IL12, subunit p40
NKSF
cytotoxic lymphocyte maturation factor 2, p40
interleukin 12, p40
interleukin-12 beta chain
natural killer cell stimulatory factor, 40 kD subunit
natural killer cell stimulatory factor-2
CD212
IL-23R
CD132
LCA11
sWSS2608
growth inhibitor ING1
growth inhibitory protein ING1
inhibitor of growth 1
p24ING1c
p33
p33ING1
p33ING1b
p47
p47ING1a
tumor suppressor ING1
CD220
nephrocystin 2
KIAA0036
NPHP5
SLSN5
nephrocystin-5
NY-REN-64
interleukin 1 receptor associated kinase 4
OFC6
VWS1
CD41
CD41B
GPIIb
Integrin alpha-IIb
PPP1R93
platelet glycoprotein IIb of IIb/IIIa complex
protein phosphatase 1, regulatory subunit 93
CD49f
ITGA6A
ITGA6B
VLA-6
very late activation protein 6
LFA-1
MAC-1
complement component 3 receptor 3 and 4 subunit
Ataxia-diabetes-goiter-gonadal insufficiency syndrome
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
CD61
GPIIIa
antigen CD61
platelet glycoprotein IIIa
CD104
BRI
BRI2
BRICD2B
BRICHOS domain containing 2B
E25B
ACAD2
IVDH
AHD
AWS
CD339
HJ1
JTK10
JAK-3
JAK3_HUMAN
JAKL
L-JAK
LJAK
leukocyte Janus kinase
tyrosine-protein kinase JAK3
DXS1272E
XE169
CAGL237
HDL2
JP-3
JP3
junctophilin3
DP3
DPIII
PDGB
PKGB
desmosomal protein 3
Adhesion molecule-like, X-linked
KALIG-1
Kallmann syndrome interval gene 1
WAP four-disulfide core domain 19
WFDC19
anosmin-1
HUK1
Kv1.1
MBK1
RBK1
potassium voltage-gated channel subfamily A member 1
ISK
IsK
JLNS2
Jervell and Lange-Nielsen syndrome 2
LQT5
Long QT syndrome 5
minK
potassium voltage-gated channel subfamily E regulatory subunit 1
potassium voltage-gated channel subfamily E regulatory subunit 5
LQT6
MiRP1
potassium voltage-gated channel subfamily E regulatory subunit 2
HOKPP
MiRP2
potassium voltage-gated channel subfamily E regulatory subunit 3
HERG
Kv11.1
erg1
human ether-a-go-go-related gene
long QT syndrome type 2
potassium voltage-gated channel subfamily H member 2
ATP-sensitive inward rectifier potassium channel 1
Kir1.1
ROMK1
potassium inwardly rectifying channel subfamily J member 1
ATP-sensitive inward rectifier potassium channel 11
BIR
Kir6.2
beta-cell inward rectifier
potassium inwardly rectifying channel subfamily J member 11
IRK1
Kir2.1
LQT7
potassium inwardly rectifying channel subfamily J member 2
BK channel alpha subunit
KCa1.1
big potassium channel alpha subunit
mSLO1
maxiK channel
potassium calcium-activated channel subfamily M alpha 1
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.
JLNS1
Jervell and Lange-Nielsen syndrome 1
KCNA8
KVLQT1
Kv7.1
LQT1
potassium voltage-gated channel subfamily Q member 1
ENB1
HNSPC
KCNA11
Kv7.2
potassium voltage-gated channel subfamily Q member 2
Kv7.3
potassium voltage-gated channel subfamily Q member 3
Kv7.4
potassium voltage-gated channel subfamily Q member 4
SLRR2B
keratocan proteoglycan
fructokinase
strumpellin
KBP
TTC20
kinesin binding protein
KIDLIA
MRX98
XLMR-related protein, neurite extension
XPN
Charcot-Marie-Tooth neuropathy type II
HMSNII
KIAA0591
KLP
MY050
NKHC
neuron-specific kinesin heavy chain
AXOR12
HOT7T175
C-Kit
CD117
SCFR
mast/stem cell growth factor receptor Kit
KIT proto-oncogene, receptor tyrosine kinase
FKLF
MODY7
Tieg3
Fletcher factor
HMWK
alpha-2-thiol proteinase inhibitor
bradykinin
high-molecular-weight kininogen
K-Ras4B
KRAS1
CAM
Krev interaction trapped 1
KRT1A
CK10
K10
cytokeratin 10
epidermolytic hyperkeratosis
K12
Meesmann corneal dystrophy
epidermolysis bullosa simplex, Dowling-Meara, Koebner
BLC-PMG
Band like calcification with simplified gyration and polymicrogyria
Bilateral band-like calcification with polymicrogyria
Microcephaly-intracranial calcification-intellectual disability syndrome
OCLN-related pseudo-TORCH syndrome
PTORCH1
Pseudo-TORCH syndrome due to OCLN deficiency
Pseudo-TORCH syndrome-1
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
Worldwide AND has_cases/families_value : 30.0 (Case(s))
NEPPK
focal non-epidermolytic palmoplantar keratoderma
KRTE
epidermal ichthyosis bullosa of Siemens
CK3
cytokeratin 3
keratin, type II cytoskeletal 3
CK-5
KRT5A
CK6C
CK6D
K6C
K6D
Hb-1
hard keratin type II 1
Hb-3
hard keratin type II
Hb-5
Hb6
MNX
hard keratin type II 6
CK-9
EPPK
cytokeratin 9
epidermolytic palmoplantar keratoderma
type I cytoskeletal 9
CAML1
CD171
NCAM-L1
neural cell adhesion molecule L1
2-hydroxyglutarate dehydrogenase
congenital muscular dystrophy
merosin
epiligrin
kalinin-165kDa
nicein-150kDa
NPHS5
laminin S
kalinin-140kDa
nicein-125kDa
kalinin-105kDa
nicein-100kDa
CD107b
KIAA0609
like-acetylglucosaminyltransferase
LARGE xylosyl- and glucuronyltransferase 1
Crandall syndrome
Deafness-pili torti-hypogonadism syndrome
Hearing loss-pili torti-hypogonadism syndrome
A rare mitochondrial oxidative phosphorylation disorder, caused by complex III deficiency, characterized by congenital sensorineural hearing loss and pili torti. Hypogonadism and intellectual disability were occasionally reported.
Worldwide AND has_cases/families_value : 33.0 (Case(s))
DHCR14B
TDRD18
tudor domain containing 18
phosphatidylcholine--sterol O-acyltransferase
KIAA0613
PDLIM6
Z-band alternatively spliced PDZ motif protein
ZASP
cypher
oracle
LDLCQ2
familial hypercholesterolemia
ARH
ARH2
FHCB1
FHCB2
autosomal recessive hypercholesterolemia
low density lipoprotein receptor adaptor protein 1
MAN antigen 1
MAN1
inner nuclear membrane protein Man1
CD295
LEP-R
OB-R
OBR
EPITEMPIN
ETL1
Epitempin-1
IB1099
CGB4
LSH-B
hLHB
interstitial cell stimulating hormone, beta chain
luteinizing hormone beta subunit
lutropin, beta chain
LCGR
LGR2
LHR
luteinizing hormone receptor
luteinizing hormone/choriogonadotropin receptor
CD118
DNA joinase
DNA ligase IV
DNA repair enzyme
polydeoxyribonucleotide synthase [ATP] 4
polynucleotide ligase
sealase
LIMK
CESD
LAL
Wolman disease
lysosomal acid lipase
sterol esterase
PIG7
SIMPLE
TP53I7
small integral membrane protein of the late endosome
ERGIC-53
ERGIC53
FMFD1
MCFD1
MR60
endoplasmic reticulum-golgi intermediate compartment protein 53
gp58
ACHP
ZRS
mandibuloacral dysplasia type A
progerin
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
A rare congenital malformation syndrome with neonatal onset characterized by congenital generalized hypertrichosis, redundant skin and facial dysmorphism such as ectropion and macrostomia.
LIM homeobox transcription factor 1 beta
loricrin cornified envelope precursor protein
KIAA0249
Phosphatidate phosphatase LPIN2
BMND1
EVR4
HBM
LR3
OPS
OPTA1
VBCH2
GP130
LRP130
leucine rich pentatricopeptide repeat containing
KIAA1437
SWELL1
leucine rich repeat containing 8 VRAC subunit A
beta-mannosidase A
MAP kinase kinase 1
MAPK/ERK kinase 1
MAPKK1
MEK1
MKK1
dual specificity mitogen-activated protein kinase kinase 1
mitogen-activated protein kinase kinase 1
MAP kinase kinase 2
MEK2
MKK2
mitogen-activated protein kinase kinase 2
FTDP-17
G protein beta1/gamma2 subunit-interacting factor 1
MSTD
MTBT1
MTBT2
PPND
PPP1R103
TAU
Tau-PHF6
Tau-derived paired helical filament hexapeptide
microtubule-associated protein tau, isoform 4
protein phosphatase 1, regulatory subunit 103
tau
tau-40
Gwl
THC2
greatwall kinase homolog
microtubule associated serine/threonine kinase like
EDM5
HOA
ACTHR
adrenocorticotropic hormone receptor
3-methylcrotonyl-CoA carboxylase biotin containing subunit
MCCA
MCCCa
MCCCα
methylcrotonoyl-CoA carboxylase alpha
methylcrotonyl-CoA carboxylase subunit 1
3-methylcrotonyl-CoA carboxylase non-biotin containing subunit
MCCB
MCCCβ
MCCCß
methylcrotonoyl-CoA carboxylase beta
methylcrotonyl-CoA carboxylase subunit 2
F5F8D
LMAN1IP
SDNSF
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
ML4
MLIV
MST080
MSTP080
TRPM-L1
TRPML1
mucolipidosis type IV
transient receptor potential cation channel mucolipin subfamily member 1
transient receptor potential mucolipin 1
BRCT-repeat inhibitor of TERT expression 1
BRIT1
FMF
TRIM20
marenostrin
menin
RP38
Tyro12
c-Eyk
mer
DFNB97
HGFR
RCCP2
hepatocyte growth factor receptor
MET proto-oncogene, receptor tyrosine kinase
CMT2A2
CPRP1
KIAA0214
MARF
C1QTNF5
C1q and TNF related 5
NNO2
membrane-type frizzled-related protein
rd6
GNT-II
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
FXY
Opitz/BBB syndrome
RNF59
TRIM18
GIF
glycosylation-inhibiting factor
phenylpyruvate tautomerase
AQP0
LIM1
MP26
aquaporin 0
bHLHe32
homolog of mouse microphthalmia
melanocyte inducing transcription factor
BBS13
POC12
POC12 centriolar protein homolog (Chlamydomonas)
KIAA0027
LVM
MLC
FCC2
HNPCC
HNPCC2
MLH-1
ALL-1
ALL1
CXXC7
HRX
HTRX
HTRX1
Histone-lysine N-methyltransferase 2A
MLL1
MLL1A
TRX1
SLAC2-A
Slac-2a
exophilin-3
l(1)-3Rk
l1Rk3
synaptotagmin-like protein homologue lacking C2 domains-a
MCD
hMCD
cblA
ATP:cob(I)alamin adenosyltransferase
CFAP23
cblB
cilia and flagella associated protein 23
RIPK7
ROCO2
dardarin
CHS
Mauve
renal amyloidosis
nM15
LAMAN
lysosomal alpha-mannosidase
NPD002
isobutyryl-CoA dehydrogenase
ASM1
GMRSP
MIR675 host gene
MIR675HG
adult skeletal muscle
glucose metabolism regulatory protein
long intergenic non-protein coding RNA 8
non-protein coding RNA 8
H19 imprinted maternally expressed transcript
DOR1
D6S114E
PSF1
RING4
transporter 1, ATP binding cassette subfamily B member
NGS17
TAPA
TPN
TPSN
tapasin
DK1
KIAA1094
dolichol kinase 1
CISS
CISS1
CLF
CLF-1
cold-induced sweating syndrome
LKR/SDH
LKRSDH
LORSDH
alpha-aminoadipic semialdehyde synthase
lysine ketoglutarate reductase/saccharopine dehydrogenase
saccharopine dehydrogenase (NAD(+), L-glutamate-forming)
saccharopine dehydrogenase (NADP(+), L-lysine-forming)
DP2
DP2.5
PPP1R46
protein phosphatase 1, regulatory subunit 46
Autosomal recessive popliteal pterygium syndrome
Lethal popliteal pterygium syndrome
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Spain AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_cases/families_value : 24.0 (Case(s))
RECQ2
RECQL3
HFE1
HLA-H
high Fe
HFE2A
HJV
RGMC
haemojuvelin
hemojuvelin
repulsive guidance molecule c
ACTH
LPH
MSH
NPP
POC
adrenocorticotropic hormone
adrenocorticotropin
alpha-melanocyte stimulating hormone
beta-endorphin
beta-lipotropin
beta-melanocyte stimulating hormone
corticotropin
opiomelanocortin prepropeptide
ATR1
CSNU1
D2H
NBAT
RBAT
amino acid transporter 1
neutral and basic amino acid transport protein rBAT
DAND6
VBCH
cblC
CLG3
collagenase 3
MMP-2
TBE-1
HMCS
MCS
MOS
human molybdenum cofactor sulfurase
MOCOD
MOCS1A
MOCS1B
MOCO1
MOCS2A
MOCS2B
molybdopterin synthase catalytic subunit
molybdopterin synthase large subunit
molybdopterin synthase small subunit
CDGIf
Lec35
PQLC5
SL15
SLC66A5
CD110
THPOR
TPOR
MPL proto-oncogene, thrombopoietin receptor
SYM1
glomerulosclerosis
mitochondrial inner membrane protein MPV17
CMT2I
CMT2J
HMSNIB
B27
FALP
MRAP1
melanocortin 2 receptor accessory protein
AT-like disease
ATLD
MRE11 double strand break repair nuclease
DNA mismatch repair protein Msh2
HNPCC1
MSH-2
MSH-6
HYD1
OFC5
OBSOLETE: Basan syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Absence of fingerprints-congenital milia syndrome
OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome
CRS2
HOX8
craniosynostosis, type 2
ATP6
ATPase-6
Su6m
mitochondrially encoded ATP synthase membrane subunit a
mitochondrially encoded ATP synthase membrane subunit 6
COI
COX1
mitochondrially encoded cytochrome c oxidase I
CO2
COX2
mitochondrially encoded cytochrome c oxidase II
CO3
COIII
COX3
mitochondrially encoded cytochrome c oxidase III
COB
CYTB
UQCR3
KIAA1073
phosphatidylinositol-3-phosphatase
phosphoinositide-3-phosphatase
NAD1
NADH-ubiquinone oxidoreductase chain 1
ND1
complex I ND1 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
NAD2
NADH-ubiquinone oxidoreductase chain 2
ND2
complex I ND2 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
NAD3
NADH-ubiquinone oxidoreductase chain 3
ND3
complex I ND3 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
NAD4
NADH-ubiquinone oxidoreductase chain 4
ND4
complex I ND4 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
NAD4L
NADH-ubiquinone oxidoreductase chain 4L
ND4L
complex I ND4L subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
NAD5
NADH-ubiquinone oxidoreductase chain 5
ND5
complex I ND5 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
NAD6
NADH-ubiquinone oxidoreductase chain 6
ND6
complex I ND6 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
Methionine synthase
cblG
cobalamin-dependent methionine synthase
5-methyltetrahydrofolate-homocysteine methyltransferase
Methionine synthase reductase
cblE
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ABL
microsomal triglyceride transfer protein
MCM
Methylmalonyl-CoA mutase, mitochondrial
MYH
LH receptor mRNA-binding protein
LRBP
mevalonic aciduria
FHC
MYBP-C
cMyBP-C
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
MYCNOT
N-myc
bHLHe37
MYCN proto-oncogene, bHLH transcription factor
MRF4
bHLHc4
herculin
muscle-specific regulatory factor 4
SMHC
SMMHC
SMMS-1
KIAA2034
MHC16
MYH17
MYH2A
MYHSA2
MYHas8
MyHC-2A
MyHC-IIa
HEMHC
MYHC-EMB
MYHSE1
SMHCE
muscle embryonic myosin heavy chain 3
myosin, skeletal, heavy chain, embryonic 1
cardiomyopathy, hypertrophic 1
CMD1S
MyHC-peri
MyHC-pn
EPSTS
FTNS
MHA
NMHC-II-A
NMMHCA
nonmuscle myosin heavy chain II-A
CMH10
cardiac ventricular myosin light chain 2
GS1
MYO5
MYR12
Unconventional myosin-Va
myosin V
myosin heavy chain 12
myosin, heavy polypeptide kinase
myoxin
KIAA0389
NSRD2
JOAG1
TIGR
juvenile-onset open-angle glaucoma 1
trabecular meshwork inducible glucocorticoid response protein
alpha-NaGalase
alpha-galactosidase B
nagalase
NAG
Sanfilippo disease IIIB
AGAS
ARGA
NAT7
NLR family, BIR domain containing 1
NLRB1
nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
AT-V1
AT-V2
ATV
NADPH oxidase organizer 2
NCF1A
NOXO2
SH3PXD1A
chronic granulomatous disease, autosomal 1
p47phox
Lethal hydrocephalus-cardiac malformation-dense bones syndrome
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.
NADPH oxidase activator 2
NOXA2
chronic granulomatous disease, autosomal 2
p67phox
PWCR
Prader-Willi syndrome chromosome region
norrin
DRG1
NDR1
RTP
TDD5
B17.2L
MMTN
Myc-induced mitochondrial protein
mimitin
NADH:ubiquinone oxidoreductase complex assembly factor 2
CI-75k
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
complex I 75kDa subunit
NADH:ubiquinone oxidoreductase core subunit S1
CI-49
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
complex I 49kDa subunit
NADH:ubiquinone oxidoreductase core subunit S2
CI-30
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
complex I 30kDa subunit
NADH:ubiquinone oxidoreductase core subunit S3
AQDQ
CI-18
complex I 18kDa subunit
NADH:ubiquinone oxidoreductase subunit S4
CI-13kA
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
complex I 13kDa subunit A
NADH:ubiquinone oxidoreductase subunit S6
CI-20
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
PSST
complex I 20kDa subunit
NADH:ubiquinone oxidoreductase core subunit S7
CI-23k
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
TYKY
complex I 23kDa subunit
NADH:ubiquinone oxidoreductase core subunit S8
CI-51K
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
complex I 51kDa subunit
NADH:ubiquinone oxidoreductase core subunit V1
CI-24k
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
complex I 24kDa subunit
NADH:ubiquinone oxidoreductase core subunit V2
NEB177D
nemaline myopathy type 2
NF-H
NFH
CMT2E
NF68
NFL
PPP1R110
protein phosphatase 1, regulatory subunit 110
NMDA receptor synaptonuclear signaling and neuronal migration factor
sialidase-1
BETA2
BHF-1
MODY6
NeuroD
bHLHa3
beta-cell E-box transactivator 2
neurogenic helix-loop-helix protein NEUROD
Atoh5
Math4B
bHLHa7
ngn3
Watson disease
neurofibromatosis
von Recklinghausen disease
ACN
BANF
Merlin
SCH
bilateral acoustic neurofibromatosis
merlin
merlin-1
moesin-ezrin-radixin like
schwannomin
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
EPM2B
epilepsy, progressive myoclonus type 2B
malin
NHL repeat containing E3 ubiquitin protein ligase 1
SLC57A1
IDN3
Scc2
sister chromatid cohesion 2 homolog (yeast)
CSX1
NKX2.5
NKX4-1
tinman (Drosophila) homolog
tinman paralog (Drosophila)
AGTAVPRL
AII
AVP
CLR1.1
Cryopyrin
FCAS
FCU
MWS
NALP3
PYPAF1
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
CLR19.4
NOD12
PAN7
PYPAF3
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
BLAU
CLR16.3
NLR family, CARD domain containing 2
NLRC2
NOD-like receptor C2
PSORAS1
nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2
nucleotide binding oligomerization domain containing 2
CASIL
PUNP
SLC65A1
NPC intracellular cholesterol transporter 1
EDDM1
HE1
NP-C2
epididymal protein 1
NPC intracellular cholesterol transporter 2
JBTS4
SLSN1
CFAP31
KIAA2000
MKS7
Meckel syndrome, type 7
NPH3
SLSN3
cilia and flagella associated protein 31
KIAA0673
POC10
POC10 centriolar protein homolog (Chlamydomonas)
SLSN4
nephroretinin
CNF
NPHN
PDCN
SRN1
ANPb
GC-B
GUCY2B
guanylate cyclase 2B
guanylyl cyclase B
Behr complicated familial optic atrophy
AHCH
DAX1
nuclear receptor subfamily 0 group B member 1
PNR
RP37
rd7
nuclear receptor subfamily 2 group E member 3
nuclear receptor subfamily 3 group C member 1
nuclear receptor subfamily 3 group C member 2
D14S46E
Maf-family bZIP transcription factor NRL
NRL-MAF
RP27
NTN
prepro-neurturin
ARA267
KMT3B
histone-lysine N-methyltransferase, H3 lysine-36 specific
nuclear receptor binding SET domain protein 1
3-beta-hydroxysteroid dehydrogenase
3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)
H105e3
SDR31E1
XAP104
short chain dehydrogenase/reductase family 31E, member 1
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
P5'N-1
PN-I
POMP
PSN1
UMPH
UMPH1
cN-III
cytosolic 5'-nucleotidase 3A
hUMP1
lupin
p36
MTC
TRKA
high affinity nerve growth factor receptor
tropomyosin receptor kinase A
HOGA
Ornithine aminotransferase
gyrate atrophy
ornithine aminotransferase precursor
BEY
BEY1
BEY2
EYCL
P-protein
SLC13B1
melanocyte-specific transporter protein
Dent disease 2
Dent-2
OCRL1
OCRL inositol polyphosphate-5-phosphatase
JBTS10
Joubert syndrome type 10
OFD1 centriole and centriolar satellite protein
Dynamin-like 120 kDa protein, mitochondrial
KIAA0567
MGM1
NPG
NTG
dynamin-like guanosine triphosphatase
mitochondrial dynamin-like GTPase
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
China AND has_point_prevalence_average_value : 0.194 AND has_point_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000
Bellini syndrome
Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrodysostosis
3-methylglutaconic aciduria type III
MGA3
outer mitochondrial membrane lipid metabolism regulator OPA3
COD5
cone dystrophy 5 (X-linked)
OPN1MW1
BOP
CBT
blue-sensitive opsin
color blindness, tritan
FIP-2
FIP2
HIP7
HYPL
NRP
TFIIIA-INTP
CLCN7 accessory beta subunit
HSPC019
grey-lethal
osteoclastogenesis associated transmembrane protein 1
OTC1
OTCD
OTCase
ornithine transcarbamylase deficiency
DFNB6
FER1L2
fer-1-like family member 2
SCOT
Succinyl-CoA:3-ketoacid-CoA transferase
HORK3
P2Y12
SP1999
PAB2
LIS1
NudF
PAFAH
lissencephaly-1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
L-phenylalanine hydroxylase
Phe-4-monooxygenase
phenylalanine 4-monooxygenase
phenylalanine-4-hydroxylase
Hallervorden-Spatz syndrome
PKAN
pantothenate kinase-associated neurodegeneration
ATPSK2
PAPS synthase 2
adenosine 5'-phosphosulfate kinase
adenylyl-sulfate kinase
bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
sulfate adenylyltransferase
3'-phosphoadenosine 5'-phosphosulfate synthase 2
AR-JP
E3 ubiquitin ligase
PDJ
parkin
DJ-1
DJ1
GATD2
PAX-2
HUP2
PAX-3
Aniridia 1
Aniridia 2
aniridia, keratitis
Hemifacial hyperplasia-strabismus syndrome
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
Hup1
PAX-8
PCB
Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)
dimerizing cofactor for HNF1
pterin-4-alpha carbinolamine dehydratase
pterin-4 alpha-carbinolamine dehydratase 1
CDHR15
cadherin-related family member 15
PEPCK-C
PEPCK
PEPCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
PTC4
PC1
PC1/3
PC3
SPC3
prohormone convertase 1
prohormone convertase 3
proprotein convertase 1
proprotein convertase 1/3
proprotein convertase subtilisin/kexin type 1
FH3
NARC-1
proprotein convertase subtilisin/kexin type 9
TFAR15
RP43
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
retinitis pigmentosa type 43
CSNB3
CSNBAD2
RP40
congenital stationary night blindness 3, autosomal dominant
rd1
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
CD140a
GAS9
PDGFR2
platelet derived growth factor receptor alpha
E1alpha
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
pyruvate dehydrogenase E1 subunit alpha 1
E1beta
PDHE1B
DLDBP
E3BP
OPDX
PDX1
proX
pyruvate dehydrogenase complex component X
GSF
Glucose-sensitive factor
IDX-1
IUF-1
Islet/duodenum homeobox-1
MODY4
PDX-1
STF-1
insulin upstream factor 1
somatostatin transcription factor 1
Xaa-Pro dipeptidase
imidodipeptidase
prolidase
RNF69
HK33
PMP1
PMPI
PXMP1
housekeeping gene, 33kD
PTS1R
peroxisomal import receptor 5
peroxisomal targeting signal 1 receptor
PAF-2
PXAAA1
PTS2R
PFK-1
PPP1R122
protein phosphatase 1, regulatory subunit 122
HPDR1
HYP1
PEX
PHEX peptidase
Phosphate-regulating neutral endopeptidase
XLH
phosphate regulating endopeptidase X-linked
BVMD
Best macular dystrophy
Early-onset vitelliform macular dystrophy
Juvenile-onset vitelliform macular dystrophy
Polymorphic vitelline macular degeneration
Vitelliform macular dystrophy type 2
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.
Denmark AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
Denmark AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
NON RARE IN EUROPE: Bicuspid aortic valve
Amish brittle hair syndrome
Trichothiodystrophy type D
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy
Biemond syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Bilharziasis
A rare parasitic disease characterized by infection with trematodes of the genus Schistosoma. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others.
Africa AND has_point_prevalence_range : >1 / 1000
Binder syndrome
Maxillonasal dysostosis
A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare cerebrovascular dementia
BSyn
Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.
Specific population AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000
OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome
Richieri Costa-Guion Almeida-Rodini syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schilbach-Rott syndrome
Pashayan syndrome
Pashayan-Pruzansky syndrome
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
Blepharonasofacial malformation syndrome
Blepharochalasis-double lip syndrome
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
OBSOLETE: Jorgenson-Lenz syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndrome with synostosis or other joint formation defect
OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome
OBSOLETE: Rodini-Richieri Costa syndrome
OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.
Blepharoptosis-myopia-ectopia lentis syndrome
BPES
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).
Blepharophimosis-ptosis-epicanthus inversus syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial sick sinus syndrome
Encephalopathy-intracerebral calcification-retinal degeneration syndrome
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
Worldwide AND has_cases/families_value : 26.0 (Case(s))
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Bork syndrome
Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frank-Ter Haar syndrome
Dermato-cardio-skeletal syndrome, Borrone type
Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.
Austria AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Denmark AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.255 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Hungary AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Romania AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
United States AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Bowen syndrome, Hutterite type
A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.
Specific population AND has_birth_prevalence_average_value : 281.0 AND has_birth_prevalence_range : >1 / 1000
Worldwide AND has_cases/families_value : 60.0 (Case(s))
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Zellweger syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.
Worldwide AND has_cases/families_value : 18.0 (Case(s))
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Brachydactyly-elbow wrist dysplasia syndrome
Bilginturan brachydactyly
Bilginturan syndrome
Brachydactyly type E, with short stature and hypertension
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.
Brachydactyly-arterial hypertension syndrome
Stratton-Garcia-Young syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
A rare dysostosis with brachydactyly with exstraskeletal manifestations characterized by hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further descriptions in the literature since 1992.
Brachydactyly-preaxial hallux varus syndrome
Bothriocephalosis
Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).
France AND has_annual_incidence_average_value : 0.88 AND has_annual_incidence_range : 1-9 / 1 000 000
Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.
BOD syndrome
Senior syndrome
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.
Brachytelephalangy-dysmorphism-Kallmann syndrome
Branchial dysplasia-intellectual disability-inguinal hernia syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. There have been no further descriptions in the literature since 1990.
BOFS
A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.
Worldwide AND has_cases/families_value : 150.0 (Case(s))
BSG syndrome
Elsahy-Waters syndrome
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.
Brazil AND has_birth_prevalence_average_value : 0.0854 AND has_birth_prevalence_range : <1 / 1 000 000
China AND has_birth_prevalence_average_value : 0.3094 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_range : <1 / 1 000 000
Hong Kong AND has_birth_prevalence_average_value : 2.5258 AND has_birth_prevalence_range : 1-9 / 100 000
6-pyruvoyl-tetrahydropterin synthase deficiency
Ventricular fibrillation, Brugada type
A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.
Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
South East Asia AND has_point_prevalence_average_value : 75.0 AND has_point_prevalence_range : 6-9 / 10 000
Facio-genito-popliteal syndrome
Popliteal web syndrome
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
Worldwide AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal dominant popliteal pterygium syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Young syndrome
BOOP
Bronchiolitis obliterans organizing pneumonia
COP
A rare form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with nonspecific flu-like symptoms, as well as cough and dyspnea, and where no etiological agent is found.
Greece AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000
Constrictive bronchiolitis
Obliterative bronchiolitis
A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.
Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.
Austria AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Greece AND has_annual_incidence_average_value : 1.13 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Luxembourg AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000
Romania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Brunner-Winter syndrome
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
FGLDS
MMT
MODED syndrome
Microcephaly-digital anomalies-normal intelligence syndrome
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome
ODED syndrome
Oculo-digito-esophageal-duodenal syndrome
A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.
Worldwide AND has_cases/families_value : 123.0 (Case(s))
NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis
NON RARE IN EUROPE: Buschke-Ollendorff syndrome
10q24 microduplication syndrome
Buttiens-Fryns syndrome
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Distal limb deficiencies-micrognathia syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Europe AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000
Cacchi-Ricci disease
MSK
Precalicial canalicular ectasia
A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.
A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.
Denmark AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000
Japan AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Japan AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000
Korea, Republic of AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000
Korea, Republic of AND has_point_prevalence_average_value : 0.529 AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Sweden AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000
Infantile cortical hyperostosis
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.
Infantile choroidocerebral calcification syndrome
Bilateral symmetrical thalamic gliosis
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
CAMAK syndrome
Cataract-microcephaly-arthrogryposis-kyphosis syndrome
Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to COFS syndrome
Cumming syndrome
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Hereditary pseudocholinesterase deficiency
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Hereditary butyrylcholinesterase deficiency
Idiopathic camptocormism
Idiopathic progressive lumbar kyphosis
Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.
Goodman camptodactyly
An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
CD332
CEK3
Crouzon syndrome
ECT1
K-SAM
TK14
TK25
BTF2
GTF2H
RAD25
Ssl2
XPB
xeroderma pigmentosum group B complementing
ERCC excision repair 3, TFIIH core complex helicase subunit
Cockayne syndrome
AIS
HUMARA
Kennedy disease
NR3C4
SMAX1
testicular feminization
Rozin camptodactyly syndrome
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Camptodactyly-joint contractures-facial skeletal defects syndrome
Familial streblodactyly with amino-aciduria
Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Camptodactyly syndrome, Guadalajara type 1
Progressive diaphyseal dysplasia
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
CAVC
Complete AVSD
Complete atrioventricular canal
Complete atrioventricular canal defect
Complete atrioventricular septal defect with atrial and ventricular components
A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.
Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000
Berylliosis
Chronic berylliosis
Chronic beryllium lung disease
A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.
PAVC
Partial AVSD
Partial atrioventricular canal defect
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.
Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000
NON RARE IN EUROPE: Familial prostate cancer
Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).
Europe AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000
Familial pancreatic cancer
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
CMC
A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.
SMA1
SMA2
SMA3
SMNT
TDRD16A
gemin-1
tudor domain containing 16A
Cantrell deformity
Cantrell syndrome
Thoraco-abdominal syndrome
Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
Europe AND has_birth_prevalence_average_value : 0.55 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000
Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.
Hyperkeratosis-hyperpigmentation syndrome
Ostravik-Lindemann-Solberg syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.
Heart defect-tongue hamartoma-polysyndactyly syndrome
OBSOLETE: Grosse syndrome
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.
Australia AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000
China AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000
Viet Nam AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000
CFC syndrome
A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.
Japan AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000
Atriodigital dysplasia type 3
Cardiomelic syndrome type 3
Heart-hand syndrome, Spanish type
Heart-limb syndrome type 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, affecting principally the middle phalanges of both hands, in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. There have been no further descriptions in the literature since 1980.
Isolated atrial cardiomyopathy with heart block
A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
Krasnow-Qazi syndrome
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
Cardiomyopathy-cataract-hip spine disease syndrome
Maternally-inherited cardiomyopathy and deafness
mtDNA-related cardiomyopathy and deafness
mtDNA-related cardiomyopathy and hearing loss
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Mitochondrial DNA-related cardiomyopathy and hearing loss
Childhood ataxia with diffuse central nervous system hypomyelination
Leukoencephalopathy with vanishing white matter
Myelinosis centralis diffusa
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.
Worldwide AND has_cases/families_value : 148.0 (Case(s))
Atriodigital dysplasia type 2
Tabatznik syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). There have been no further descriptions in the literature since 1990.
Houlston-Ironton-Temple syndrome
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.
Sonoda syndrome
A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
Congenital heart defect-round face-developmental delay syndrome
Myopathy-Moebius-Robin syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by non-specific or central hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), congenital myopathy, developmental delay and failure to thrive. Intellectual disability have also been reported in some patients. Variable clinical features may include macro/micro or plagiacephaly, facial dysmorphism, brain anomalies, septal defects, respiratory insufficiency, gastrointestinal problems including poor/absent swallowing, joint contactures, tapering fingers, clubfoot and scoliosis.
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.
Worldwide AND has_cases/families_value : 750.0 (Case(s))
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Hereditary multi-infarct dementia
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.
Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000
Finland AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.
Worldwide AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Cataract-alopecia-sclerodactyly syndrome
PPK-CA, Wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Cataract-ataxia-hearing loss syndrome
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.
Sengers syndrome
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
CDG
Carbohydrate deficient glycoprotein syndrome
A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
Wellesley-Carman-French syndrome
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Cataract-aberrant oral frenula-growth delay syndrome
CAHMR syndrome
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Cataract-hypertrichosis-intellectual disability syndrome
HIE
Hypoxic and ischemic brain injury in the newborn
Hypoxic-ischemic encephalopathy
Perinatal hypoxia
A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.
Neonatal hypoxic and ischemic brain injury
VIN
Vulvar intraepithelial tumor
A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritus/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosus or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.
OBSOLETE: HSV keratitis
OBSOLETE: Herpetic keratitis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Infective keratitis
OBSOLETE: Herpes simplex virus keratitis
Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.
Neurotrophic keratitis
Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.
Europe AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-5 / 10 000
Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.
France AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 4.2091 AND has_point_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal ichthyosis syndrome with other associated signs
OBSOLETE: Congenital cataract-ichthyosis syndrome
A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.
Worldwide AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000
SOLAMEN syndrome
A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Nephrogenic fibrosing dermopathy
Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.
Intractable diarrhea-choanal atresia-eye anomalies syndrome
GSD due to muscle and heart glycogen synthase deficiency
GSD type 0b
Glycogen storage disease type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
Glycogenosis type 0b
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
Overgrowth-macrocephaly-facial dysmorphism syndrome
Ataxia-delayed dentition-hypomyelination syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Kelly-Kirson-Wyatt syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Jawad syndrome
Microcephaly-digital anomalies-intellectual disability syndrome
Woods-Crouchman-Huson syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Filippi syndrome
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
Worldwide AND has_cases/families_value : 261.0 (Case(s))
A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
Czech dysplasia, metatarsal type
SED with metatarsal shortening
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
Worldwide AND has_cases/families_value : 13.0 (Family(ies))
Spondyloepiphyseal dysplasia with metatarsal shortening
Hepatoencephalopathy due to COXPD1
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss).
Europe AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000
CMV disease in patients with impaired cell mediated immunity deemed at risk
Europe AND has_point_prevalence_average_value : 25.5 AND has_point_prevalence_range : 1-5 / 10 000
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.
ACY1D
N-acyl-L-amino acid amidohydrolase deficiency
N-acyl-aliphatic-L-amino acid amidohydrolase deficiency
A rare inborn error of metabolism (organic aciduria) characterized by elevated urinary levels of numerous N-acetylated amino acids. A causal relationship with a specific clinical phenotype is uncertain.
Worldwide AND has_cases/families_value : 15.0 (Case(s))
LCCS2
Multiple contracture syndrome, Israeli-Bedouin type
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
Lethal congenital contracture syndrome type 2
LCCS3
Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.
Lethal congenital contracture syndrome type 3
PLCA
Primary localized cutaneous amyloidosis
A rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.
Taiwan, Province of China AND has_point_prevalence_average_value : 9.8 AND has_point_prevalence_range : 1-9 / 100 000
PLCNA
Primary localized cutaneous nodular amyloidosis
Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren's syndrome and CREST syndrome.
Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.
Adhesive arachnoiditis
Chronic arachnoiditis
A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.
NON RARE IN EUROPE: Endometriosis outside pelvis
NON RARE IN EUROPE: Extrapelvic endometriosis
OPHN1 syndrome
Oligophrenin-1 syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
X-linked intellectual disability-cerebellar hypoplasia syndrome
Ter Haar syndrome
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Lemierre postanginal sepsis
Postanginal sepsis secondary to orophyngeal infection
Septic phlebitis of the internal jugular vein
Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.
Denmark AND has_annual_incidence_average_value : 36.0 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000
Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
MMND
Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.
OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial partial lipodystrophy, Dunnigan type
OBSOLETE: Laminopathy type Decaudain-Vigouroux
Question mark ear syndrome
A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.
Macrocephalic sperm head syndrome
Male infertility due to macrozoospermia
A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
Male infertility due to large-headed multiflagellar polyploid spermatozoa
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Worldwide AND has_cases/families_value : 127.0 (Case(s))
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated optic nerve hypoplasia
OBSOLETE: Isolated optic nerve hypoplasia/aplasia
COXPD5
Combined oxidative phosphorylation defect type 5
This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonaemia.
Hypotonia with lactic acidemia and hyperammonemia
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sturge-Weber syndrome
Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.
Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000
Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 7.2 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 4.9 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000
Ukraine AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 8.9 AND has_birth_prevalence_range : 1-9 / 100 000
A rare, usually, sporadic congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.
A rare, usually sporadic, congenital nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare lymphatic malformation
OBSOLETE: Cervicofacial lymphatic malformation
Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.
Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.
Congenital vocal cord paralysis
Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.
Airway infantile haemangioma
Laryngotracheal angioma
A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial ("beard") distribution.
CYP5
CYP5A1
THAS
TXAS
TXS
cytochrome P450, family 5, subfamily A, polypeptide 1
SIGMA1B
adaptor related protein complex 1 subunit sigma 2
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
A multiple congenital anomaly characterized by a broad phenotype with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's).
Canada AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000
Crome syndrome
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.
Cataract-nephropathy-encephalopathy syndrome
Pierre Robin sequence associated with collagen disease
Pierre Robin syndrome associated with collagen disease
Pierre Robin sequence associated with a chromosomal anomaly
Pierre Robin syndrome associated with a chromosomal anomaly
Pierre Robin sequence associated with branchial archs anomalies
Pierre Robin syndrome associated with branchial archs anomalies
Pierre Robin sequence associated with bone disease
Pierre Robin syndrome associated with bone disease
Teratogenic Pierre Robin sequence
OBSOLETE: Syndrome associated with Pierre Robin sequence
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare disease with Pierre Robin syndrome
OBSOLETE: Syndrome associated with Pierre Robin syndrome
OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies
OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies
OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence
OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome
OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome
OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly
OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome
OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation
OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies
OBSOLETE: Karandikar-Maria-Kamble syndrome
OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies
OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies
OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies
OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies
OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease
OBSOLETE: Acquired alimentary behavior disorder of infancy
OBSOLETE: Rare sucking/swallowing disorder
GBP
LCEH
LCHAD
MTPA
gastrin-binding protein
long-chain 2-enoyl-CoA hydratase
long-chain-3-hydroxyacyl-CoA dehydrogenase
mitochondrial trifunctional protein, alpha subunit
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Cataract-hearing loss-hypogonadism syndrome
Schaap-Taylor-Baraitser syndrome
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
CILD6
DNAI8
NM23-H8
SPTRX2
sperm-specific thioredoxin 2
CLR19.3
Monarch1
PAN6
PYPAF7
RNO2
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
CD135
FLK2
STK1
CD140b
JTK12
PDGFR1
platelet derived growth factor receptor beta
Gsh4
EST2
TCS1
TP2
TRT
hEST2
SCARNA19
TER
TRC3
hTR
small Cajal body-specific RNA 19
BSF2
HSF
IL-6
interferon, beta 2
IBSN
MGC841
SNDI
nuclear pore glycoprotein p62
p62
ATGL
TTS-2.2
adipose triglyceride lipase
desnutrin
iPLA2zeta
patatin like domain 2, triacylglycerol lipase
BAM
Bamacan
HCAP
SMC3L1
bamacan
bamacan proteoglycan
ARC240
CAGH45
HOPA
KIAA0192
Kohtalo homolog
Kto
OKS
OPA1
TRAP230
T cell activation, increased late expression
T-cell surface protein tactile
TACTILE
CX40
connexin 40
DMP4
G-CK
dentin matrix protein 4
golgi casein kinase
FAM20C golgi associated secretory pathway kinase
KIAA1034
HPE9
THP1
THP2
tax helper protein 1
tax helper protein 2
tax-responsive element-2 holding protein
CR-1
Cripto-1
APRF
signal transducer and activator of transcription 3
RBP receptor
SLC69A1
retinol binding protein 4 receptor
signaling receptor and transporter of retinol STRA6
AG2S
AGTR1A
AT1
AT1B
AT2R1
AT2R1A
AT2R1B
HAT1R
angiotensin II type 1 receptor
MRSR
SPMSY
SpS
STB2
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
amnionless
CMT4H
FRABP
Frabin
ZFYVE6
frabin
CTRP5
LORD
complement-c1q tumor necrosis factor-related protein 5
myonectin
CD221
IGFIR
IGFR
JTK13
JHDM1F
KDM7B
KIAA1111
ZNF422
histone lysine demethylase PHF8
jumonji C domain-containing histone demethylase 1F
lysine demethylase 7B
zinc finger protein 422
HBA-T3
DSS1
ECD
PSMD15
SHSF1
Shfdg1
deleted in split-hand/foot 1
GMP1
OFC10
PIC1
SMT3C
SMT3H3
SUMO-1
Martsolf syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, mild-to-severe intellectual disability and characteristic facial dysmorphism including ptosis, deep-set eyes, wide nasal bridge, macrotia and micrognathia. Common clinical features include brain abnormalities, microcephaly, short stature, hypogonadism, external genital hypoplasia and skeletal abnormalities. Spastic diplegia can sometimes occur.
Cataract-intellectual disability-hypogonadism syndrome
ARMD6
CORD11
retina and anterior neural fold homeobox 2
ARMD7
HtrA
IGFBP5-protease
KCNQ1 antisense RNA 2 (non-protein coding)
KCNQ1 overlapping transcript 1 (non-protein coding)
KCNQ1-AS2
KvDMR1
KvLQT1-AS
LIT1
non-protein coding RNA 12
KCNQ1 opposite strand/antisense transcript 1
Cytochrome b-245 light chain
flavocytochrome b-558 alpha polypeptide
p22-PHOX
p22phox
C-Raf proto-oncogene, serine/threonine kinase
CRAF
Raf-1
c-Raf
Raf-1 proto-oncogene, serine/threonine kinase
CELIAC1
major histocompatibility complex, class II, DQ alpha 1
IAP-like protein 1
ILP-1
hILP
NME1
RMRPR
RNase MRP RNA
RRP2
RNA component of mitochondrial RNA processing endoribonuclease
Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
HB9
HOXHB9
SCRA1
MTPB
mitochondrial trifunctional protein, beta subunit
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ACTSA
GROS1
LEPRECAN
growth suppressor 1
procollagen-proline 3-dioxygenase
CASP
LEPREL3
P3H5
leprecan-like 3
prolyl 3-hydroxylase family member 5 (non-enzymatic)
Casp-8
FLICE
MACH
MCH5
TRNL1
mitochondrially encoded tRNA-Leu (UUA/G) 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.
Cortical blindness-intellectual disability-polydactyly syndrome
trnK
mitochondrially encoded tRNA-Lys (AAA/G)
12S
MOTS-c
mitochondrial open-reading-frame of the twelve S rRNA type-c
mitochondrially encoded 12S ribosomal RNA
trnQ
mitochondrially encoded tRNA-Gln (CAA/G)
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
Hunter-Thompson-Reed syndrome
A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.
Night blindness-skeletal anomalies-dysmorphism syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare developmental defect during embryogenesis
Developmental anomaly of metabolic origin
Rare skeletal development disorder
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare bone development disorder
OBSOLETE: Chondrodysplastic malformation syndrome
OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones
Malformation syndrome with short stature
Rare developmental defect with skin/mucosae involvement
Rare developmental defect with connective tissue involvement
Malformation syndrome with odontal and/or periodontal component
TRY2
trypsin 2
CLCR
ELA4
caldecrin
chymotrypsinogen C
elastase 4
delta 4-3-ketosteroid-5-beta-reductase
BCL11A-L
BCL11A-S
BCL11A-XL
CTIP1
HBFQTL5
SMARCM1
ZNF856
AMPH2
Myc box-dependent-interacting protein 1
SH3P9
amphiphysin 2
amphiphysin II
SNF7-2
Shax1
VPS32B
RAD10
ERCC excision repair 1, endonuclease non-catalytic subunit
TEL
TEL oncogene
EMSP
EMSP1
KLK-L1
PSTS
enamel matrix serine proteinase 1
SCDO2
bHLHc6
mesoderm posterior bHLH transcription factor 2
enamelysin
egg-derived tyrosine phosphatase homolog (Drosophila)
hEDTP
hJumpy
CARD7
CLR17.1
DEFCAP
KIAA0926
NAC
VAMAS1
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
CI-MWFE
MWFE
NADH:ubiquinone oxidoreductase (complex 1)
complex I MWFE subunit
type I dehydrogenase
NADH:ubiquinone oxidoreductase subunit A1
FANCN
Fanconi anemia, complementation group N
HCP1
HsPCFT
MGC9564
PCFT
hPCFT
heme carrier protein 1
proton-coupled folate transporter
CMP-Sia-Tr
CMP-sialic acid transporter
CMPST
hCST
DYT3/TAF1
KAT4
NSCL2
TAFII250
TATA-box binding protein associated factor 1
CIP98
PDZD7B
USH2D
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
Worldwide AND has_cases/families_value : 75.0 (Case(s))
OBSOLETE: NADH-cytochrome b5reductase deficiency type 1
OBSOLETE: NADH-diaphorase deficiency type 1
OBSOLETE: Recessive congenital methemoglobinemia type 1
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Hereditary methemoglobinemia
OBSOLETE: Recessive hereditary methemoglobinemia type 1
OBSOLETE: NADH-cytochrome b5reductase deficiency type 2
OBSOLETE: NADH-diaphorase deficiency type 2
OBSOLETE: Recessive congenital methemoglobinemia type 2
OBSOLETE: Recessive hereditary methemoglobinemia type 2
Isolated craniosynostosis
X-CALD
A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.
A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.
Pascual-Castroviejo syndrome type 1
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
DRESS syndrome
Drug rash with eosinophilia and systemic symptoms
A rare hypersensitivity reaction characterized by a generalized infiltrated skin rash with face edema, fever, enlarged lymph nodes, eosinophilia, lymphocytosis and more or less severe visceral involvement (e.g. hepatitis, nephritis, pneumonitis, myocarditis ect.) and, in some patients, reactivation of human herpes virus 6, Epstein-Barr virus and/or cytomegalovirus. Onset usually occurs 2-8 weeks after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides and allopurinol but many other medications have also been implicated. Histology is characterized by interface dermatitis, sometimes mixed with eczematous and an acute generalized exanthematous pustulosis-like pattern. Auto-immune sequelae may occur.
Drug reaction with eosinophilia and systemic symptoms
Combined prosaposin deficiency
A rare neurometabolic disease characterized by severe neurologic symptoms including grand mal seizures, massive myoclonic bursts, hypotonia, abnormal ocular movements, dystonia and hepatosplenomegaly. Symptoms appear at or shortly after birth and follow a rapidly progressive fatal course. All patients manifest with lipid accumulation due to lysosomal dysfunction with histologic findings of accumulation of various sphingolipids (e.g., glucosylceramide, ceramide, sulfatides, globotriaosylceramide).
Encephalopathy due to prosaposin deficiency
A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.
A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).
United States AND has_annual_incidence_average_value : 8.6 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 4.72 AND has_annual_incidence_range : 1-9 / 100 000
OBSOLETE: Disease-associated transverse myelitis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Acute transverse myelitis
OBSOLETE: Secondary acute transverse myelitis
A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.
Europe AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
POMA
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
EMEA
Eyelid myoclonia with and without absences
Jeavons syndrome
A rare, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. It is currently classified among genetic generalized epilepsy (GGEs) syndromes and kept distinct from idiopathic generalized epilepsies.
Giant cell histiocytomatosis
Lipoid dermatoarthritis
A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.
H-ABC
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Patients present with distinctive MRI findings of diffuse hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy, and atrophy of the basal nuclei.
Worldwide AND has_cases/families_value : 216.0 (Case(s))
Hypomyelination with atrophy of basal ganglia and cerebellum
A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.
Leukoencephalopathy with bilateral anterior temporal lobe cysts
A rare leukodystrophy characterized by acute episodes of infancy/early childhood-onset neurological deficit (including ataxia, dysarthria and seizures) with irritability and opisthotonus followed either by steady deterioration or by alternating periods of rapid progression and prolonged periods of stability.
Worldwide AND has_cases/families_value : 19.0 (Case(s))
Progressive cavitating leukoencephalopathy
Balikova-Vermeesch syndrome
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Retinopathy, Burgess-Black type
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Microphthalmia with brain and digit anomalies
Grisart-Destrée syndrome
Trisomy 17q11.2
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to SRD5A3-CDG
SPG39
Spastic paraplegia due to NTE mutation
Spastic paraplegia due to neuropathy target esterase mutation
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.
Autosomal recessive spastic paraplegia type 39
ARCA2
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive spinocerebellar ataxia type 9
SCAR9
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
Worldwide AND has_cases/families_value : 31.0 (Case(s))
Autosomal recessive ataxia due to ubiquinone deficiency
OBSOLETE: Autosomal dominant hereditary hemochromatosis
OBSOLETE: Ferroportin disease
OBSOLETE: Hemochromatosis due to defect in ferroportin
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using SLC40A1-related hemochromatosis
NON RARE IN EUROPE: C282Y/C282Y hemochromatosis
NON RARE IN EUROPE: Classic hemochromatosis
NON RARE IN EUROPE: HFE-related hemochromatosis
NON RARE IN EUROPE: Hemochromatosis type 1
African iron overload
Bantu siderosis
A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
CMT4J
A form of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, demyelinating with axonal loss sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.
Autosomal dominant distal juvenile spinal muscular atrophy type 1
dHMN1
Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
Distal hereditary motor neuropathy type 1
Distal spinal muscular atrophy type 2
dHMN2
dSMA2
A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
Distal hereditary motor neuropathy type 2
Distal HMN V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.
Distal hereditary motor neuropathy type 5
Autosomal recessive distal spinal muscular atrophy type 3
Distal hereditary motor neuropathy type 3 and type 4
dHMN3 and dHMN4
dSMA3
Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.
Worldwide AND has_cases/families_value : 28.0 (Case(s))
Autosomal recessive distal spinal muscular atrophy type 2
dHMNJ
A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).
Distal hereditary motor neuropathy, Jerash type
ATP7A-related distal motor neuropathy
DSMAX
SMAX3
X-linked dHMN3
X-linked dSMA3
X-linked distal hereditary motor neuropathy type 3
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
X-linked distal spinal muscular atrophy type 3
HSAN with cough and gastroesophageal reflux
HSAN1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
Hereditary sensory and autonomic neuropathy type IB
A rare hereditary sensory and autonomic neuropathy characterized by adult-onset chronic, paroxysmal and dry cough and gastro-oesophageal reflux preceeding the neuropathy. Cough is usually triggered by noxious odors, inhalation of fumes, eating dry food, lying flat or tactile stimulation of external auditory canal, and it may progress into cough syncope. Frequent throat clearing and hoarse voice may also be present. Gastro-oesophageal reflux usually presents with mild heartburn, however regurgitation and acid brash are reported in more severe cases. Sensory neuropathy symptoms develop later in life (between the third and fifth decades) with variable severities. Patients may have sensory loss in the upper and lower limbs, lancinating pains, superficial painless injuries or truncal neuropathy. Bilateral high frequency sensorineural hearing loss is common. Additional clinical features may include retinal detachment, alacrima, urinary urgency, constipation and impotence. Nerve biopsy showed loss of unmyelinated and myelinated axons.
Hereditary sensory and autonomic neuropathy type 1B
HSAN with deafness and global delay
HSAN with hearing loss and global delay
Hereditary sensory and autonomic neuropathy with hearing loss and global delay
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.
Hereditary sensory and autonomic neuropathy with deafness and global delay
Mutilating HSAN with spastic paraplegia
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.
Mutilating hereditary sensory neuropathy with spastic paraplegia
X-linked HSAN with deafness
X-linked HSAN with hearing loss
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
X-linked hereditary sensory and autonomic neuropathy with hearing loss
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
X-linked hereditary sensory and autonomic neuropathy with deafness
Distal spinal muscular atrophy with vocal cord paralysis
dHMN7
A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
Distal hereditary motor neuropathy type 7
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Meckel syndrome
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.
Hydrocephaly-cerebellar agenesis syndrome
MSH-R
alpha melanocyte stimulating hormone receptor
MT2
matriptase-2
Usher syndrome 1E (autosomal recessive, severe)
Near total absence of cerebellum
Subtotal absence of cerebellum
A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.
FBLN
Ketoaciduria-intellectual disability-ataxia-deafness syndrome
Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
YRS
YTS
tyrRS
tyrosine tRNA ligase 1, cytoplasmic
Bassen-Kornzweig disease
A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
Campomelic dwarfism
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.
Worldwide AND has_birth_prevalence_average_value : 1.875 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 3.0E-4 AND has_point_prevalence_range : <1 / 1 000 000
CFAP124
POC20
POC20 centriolar protein homolog (Chlamydomonas)
UBA1, ubiquitin-activating enzyme E1 homolog (yeast)
UBE1X
ubiquitin like modifier activating enzyme 1
OSMRB
OSMRbeta
Oncostatin-M-specific receptor subunit beta
FHL1B
FLH1A
Four-and-a-half LIM domains 1
KYO-T
LIM protein SLIMMER
SLIM1
XMPMA
TIN2
COQ8
coenzyme Q8 homolog (yeast)
CRT2
MCT12
creatine transporter 2
monocarboxylic acid transporter 12
p150 glued homolog (Drosophila)
C3orf5
GIBT
GK002
MRP-S22
mS22
riplet
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.
Denmark AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_range : Unknown
Europe AND has_point_prevalence_average_value : 24.75 AND has_point_prevalence_range : 1-5 / 10 000
Spain AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000
Secondary hypoparathyroidism due to impaired parathormon secretion
OBSOLETE: Hereditary iron overload with neurologic manifestation
OBSOLETE: Hereditary iron overload with anemia
Hereditary intraosseous vascular malformation
VMOS
Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.
Familial intraosseous vascular malformation
OBSOLETE: HMSN
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
OBSOLETE: Hereditary motor and sensory neuropathy
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Autosomal dominant hereditary axonal motor and sensory neuropathy
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using X-linked Charcot-Marie-Tooth disease
OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy
Autosomal dominant dHMN
Autosomal dominant distal spinal muscular atrophy
Autosomal dominant distal hereditary motor neuropathy
Autosomal recessive dHMN
Autosomal recessive dSMA
Autosomal recessive distal spinal muscular atrophy
Autosomal recessive distal hereditary motor neuropathy
HSAN
Hereditary sensory and autonomic neuropathy
Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal recessive hereditary sensory and autonomic neuropathy
A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
Autosomal dominant slowed nerve conduction velocity
trnE
mitochondrially encoded tRNA-Glu (GAA/G)
CORS3
FTM
JBTS7
KIAA1005
MKS5
Meckel syndrome, type 5
NPHP8
PPP1R134
fantom homolog
protein phosphatase 1, regulatory subunit 134
ABC-C
LBM180
ATP binding cassette subfamily A member 3
c-MAF
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.
Calderón-González-Cantu syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Netherlands AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
North America AND has_point_prevalence_average_value : 666.67 AND has_point_prevalence_range : >1 / 1000
United States AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000
SARS
SARS-1
A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).
Salamon syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woolly hair
Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
Hyperlipidemia due to HL deficiency
Hyperlipidemia due to HTGL deficiency
Hyperlipidemia due to hepatic lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Teunissen-Cremers syndrome
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
Stapes ankylosis with broad thumbs and toes
Autosomal recessive limb-girdle muscular dystrophy type 2J
LGMD type 2J
Limb-girdle muscular dystrophy type 2J
Titin-related LGMD R10
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
Titin-related limb-girdle muscular dystrophy R10
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
A rare neonatal/infantile-onset epilepsy syndrome characterized by brief focal seizures between the first days and six months of life in otherwise healthy infants. Seizures often occur in clusters and may include motor symptoms and autonomic signs (including apnea and cyanosis). Occasionally generalized seizures are present. Typically, seizures resolve spontaneously without causing any long-term neurological effects.
Self-limited neonatal/infantile epilepsy
Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.
Ectodermal dysplasia-acanthosis nigricans syndrome
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
A rare growth hormone insensitivity syndrome characterized by moderate postnatal growth delay, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), normal response to growth hormone stimulation test, and insulin insensitivity marked by normal glucose levels and hyperinsulinemia. Additional findings may include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, delayed puberty and bone maturation, and reduced bone mineral density in some cases.
Short stature due to primary acid-labile subunit deficiency
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi.
A rare urogenital condition characterized by a persistent unwanted painful erection that lasts more than 4 hours, caused by obstruction of the normal drainage of blood from the erectile tissues, leading to ischemia. It may be due to hematological diseases, metabolic or neurological disorders, and some erectile dysfunction medications. If the condition continues for several days, abnormal thickening and scarring of the erectile tissue may develop, causing permanent erectile dysfunction.
STAR syndrome
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Syndactyly-telecanthus-anogenital and renal malformations syndrome
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
Autosomal dominant macrothrombocytopenia
Bilateral microtia-hearing loss-cleft palate syndrome
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Bilateral microtia-deafness-cleft palate syndrome
PPK, Nagashima type
Palmoplantar hyperkeratosis, Nagashima type
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.
Palmoplantar keratoderma, Nagashima type
Conorenal syndrome
Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
Isolated angiitis of the central nervous system
PACNS
PCNSV
Primary central nervous system vasculitis
Primary vasculitis of the central nervous system
A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.
United States AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
Primary angiitis of the central nervous system
OFD
Oral-facial-digital syndrome
ACY2 deficiency
Aminoacylase 2 deficiency
Aspartoacylase deficiency
Spongy degeneration of the brain
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Specific population AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Pili trianguli et canaliculi
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
OFD11
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome, Gabrielli type
Orofaciodigital syndrome, Gabrielli type
A rare, sporadic, orofaciodigital syndrome characterized by severe intellectual disability, postaxial polydactyly, vertebral fusion, deafness and congenital heart defects. Characteristic facial features include blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low-set ears.
OFD9
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities
A rare developmental disorder of the ciliopathy group characterized by highly arched palate with bifid and lobulated tongue, lingual hamartoma, multiple frenula, bilateral supernumerary lower canines, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, poly- and syndactyly, mild intellectual disability and specific retinal abnormalities mostly retinal coloboma. Brain structural anomalies may also be observed.
First branchial cleft cyst
First branchial cleft fistula
A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.
Second branchial cleft cyst
Second branchial cleft fistula
A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.
Third branchial cleft cyst
Third branchial cleft fistula
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.
Fourth branchial cleft cyst
Fourth branchial cleft fistula
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.
Dermoid cyst of the neck
Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.
Dermoid cyst of the face
Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.
A rare otorhinolaryngological malformation characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.
Isolated lower lip pits
Non-syndromic familial congenital lower lip pits
A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.
A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.
Enteric duplication cyst of the tongue
Foregut duplication cyst of the tongue
Gastric duplication cyst of the tongue
Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.
Isolated digestive duplication cyst of the tongue
External auditory canal stenosis/atresia
A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.
External auditory canal aplasia/hypoplasia
Oropharyngeal teratoma
Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.
Worldwide AND has_birth_prevalence_average_value : 1.68 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 0.0017 AND has_point_prevalence_range : <1 / 1 000 000
Dacryocele
Dacryocystocele
Nasolacrimal mucocele
Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.
United States AND has_birth_prevalence_average_value : 25.7 AND has_birth_prevalence_range : 1-5 / 10 000
Double nose
Polyrhinia
A rare, major congenital malformation characterized by complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.
Accessory nostril
Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.
Worldwide AND has_cases/families_value : 32.0 (Case(s))
Congenital tubular nose
Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.
Nasal dermoid sinus cyst
A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.
Teratoma of the nasopharynx
Nasal glioma
Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.
Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.
Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.
A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.
Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.
Worldwide AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000
A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.
Canada AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
Canada AND has_point_prevalence_range : Unknown
OAV spectrum
OAVS
Oculo-auriculo-vertebral spectrum
Oculoauriculovertebral spectrum
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.
Australia AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_range : 1-9 / 100 000
First branchial arch syndrome
Hemifacial microsomia
Laterofacial microsomia
Otomandibular dysostosis
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculo-auriculo-vertebral spectrum
Hemifacial hypertrophy
Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
United States AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 1.16 AND has_point_prevalence_range : 1-9 / 100 000
Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.
A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.
Isolated congenital hypoglossia/aglossia
Cosack syndrome
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly).
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Peripheral fast-flow vascular malformation or fistula
OBSOLETE: Frontonasal arteriovenous malformation
OBSOLETE: Arteriovenous malformation of maxilla
OBSOLETE: Maxillary arteriovenous malformation
OBSOLETE: Arteriovenous malformation of mandible
OBSOLETE: Mandibular arteriovenous malformation
NICH
Non-involuting congenital haemangioma
A rare congenital hemangioma characterized by flat or slightly bossed, round or oval shape, usually solitary, that are fully formed in utero and differ from rapidly involuting congenital hemangiomas (RICH) mainly because they do not undergo a postnatal involuting phase.
RICH
Rapidly involuting congenital haemangioma
A rare congenital hemangioma characterized by benign round or oval-shaped, solitary and raised or infiltrating vascular tumors that are fully formed in utero and differ from non-involuting congenital hemangiomas (NICH) mainly because they undergo rapid postnatal involution.
Rapidly involuting congenital hemangioma
CAMS
A rare, nonhereditary, complex cerebrofacial vascular malformation characterized by multiple ipsilateral arteriovenous malformations (AVMs) with a metameric distribution, affecting various territories of the face with corresponding areas of the brain. The spectrum is highly variable with three types described according to lesion distribution: CAMS 1 derives from the medial prosencephalon with concurrent involvement of hypothalamus, nose, forehead; CAMS 2 arises from the lateral prosencephalon and involves basal ganglia, optic nerve and retina and maxillo-facial region; CAMS 3 derives from the rhombencephalon and involves cerebellum and mandible.
Cerebrofacial arteriovenous metameric syndrome
OBSOLETE: CAMS1
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Cerebrofacial arteriovenous metameric syndrome
OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1
OBSOLETE: CAMS3
OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
Diffuse lymphangioma
Diffuse lymphangiomatosis
Diffuse lymphatic malformation
Disseminated lymphangioma
Disseminated lymphangiomatosis
Disseminated lymphatic malformation
GLA
A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.
Isolated congenital maxillomandibular fusion
Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.
A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.
Craniofacial cleft
Midline facial cleft
Tessier number 0-14 and 30 facial cleft
A rare median facial cleft characterized by a midline vertical cleft through the upper lip and premaxillary bone, which is highly variable in its extent and may also involve the nasal septum and central nervous system. Depending on the severity of the defect, associated manifestations include atrophy of midline structures, hypo-/hypertelorism, monophthalmia, proboscis, nasal deformity, median alveolar cleft, and short upper frenulum.
Median cleft of the upper lip and maxilla
Alar cleft
Alar rim cleft
Cleft nose
Isolated cleft of the ala nasi
Isolated coloboma of the nose
Tessier number 1 cleft
Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.
Orbitofacial cleft
United States AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_range : 1-9 / 1 000 000
A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.
A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.
A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.
Commissural facial cleft
Transverse facial cleft
A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.
A rare neck malformation characterized by a congenital vertical atrophic and usually erythematous skin defect of variable length, lacking adnexal elements and located along the midline of the anterior neck. It typically presents with a superior skin tag, a midline subcutaneous fibrous cord which is often longer than the overlying skin defect, and an inferior blind sinus from which mucus can be expressed. The length of the defect increases with patients' age. Likewise, the fibrous cord becomes more prominent with age, potentially leading to restriction of neck extension if the malformation is left untreated. Other possible complications include microgenia, exostosis, torticollis, or infection.
Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
Europe AND has_point_prevalence_range : 6-9 / 10 000
ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels)
OBSOLETE: Moran-Barroso syndrome
OBSOLETE: OFD12
OBSOLETE: Oral-facial-digital syndrome type 12
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Orofaciodigital syndrome
OBSOLETE: Orofaciodigital syndrome type 12
OBSOLETE: Degner syndrome
OBSOLETE: OFD13
OBSOLETE: Oral-facial-digital syndrome type 13
OBSOLETE: Orofaciodigital syndrome type 13
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.
Aagenaes syndrome
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Worldwide AND has_cases/families_value : 47.0 (Case(s))
Cholestasis-pigmentary retinopathy-cleft palate syndrome
HDKR
MED12-related Hardikar syndrome
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.
Calcium pyrophosphate dihydrate crystal deposition disease
Familial CC
Familial CPPD
Familial articular chondrocalcinosis
Hereditary CC
Hereditary articular chondrocalcinosis
Hereditary calcium pyrophosphate deposition
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).
Worldwide AND has_cases/families_value : 100.0 (Family(ies))
Familial calcium pyrophosphate deposition
OBSOLETE: Akaba-Hayasaka syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Spondylodysplastic dysplasia
OBSOLETE: Platyspondylic lethal chondrodysplasia
A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.
Europe AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000
OBSOLETE: Moerman-Vandenberghe-Fryns syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Lethal chondrodysplasia
OBSOLETE: Lethal chondrodysplasia, Moerman type
OBSOLETE: Lethal chondrodysplasia, Seller type
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Nivelon-Nivelon-Mabille syndrome
A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.
Chondrodysplasia-difference of sex development syndrome
Maroteaux-Stanescu-Cousin syndrome
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
DBQD
Desbuquois dysplasia
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
HEM dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type
Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
OSMED
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
Autosomal recessive otospondylomegaepiphyseal dysplasia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Patellar dysostosis
OBSOLETE: Familial chondromalacia patellae
BHC
Benign familial chorea
A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.
Worldwide AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000
A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.
Austria AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 0.28 AND has_lifetime_prevalence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
United States AND has_annual_incidence_range : <1 / 1 000 000
Paroxysmal choreoathetosis
Paroxysmal dystonic choreoathetosis
Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Microcephaly-lymphedema-chorioretinopathy syndrome
Autosomal dominant chorioretinopathy-microcephaly syndrome
Moloney syndrome
Regional choroidal atrophy and alopecia
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
OBSOLETE: CHM-hypopituitarism syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Xq21 microdeletion syndrome
OBSOLETE: Choroideremia-hypopituitarism syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Christian syndrome
A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.
X-linked skeletal dysplasia-intellectual disability syndrome
Ring 1
Ring chromosome 1
r(1) syndrome
Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.
Ring 10
Ring chromosome 10
An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.
Ring 12
Ring chromosome 12
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.
A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue.
Ring 14
Ring chromosome 14
A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
Worldwide AND has_cases/families_value : 80.0 (Case(s))
Ring 17
Ring chromosome 17
A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
Ring 18
Ring chromosome 18
A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
Worldwide AND has_cases/families_value : 70.0 (Case(s))
Ring 19
Ring chromosome 19
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.
Ring 20
Ring chromosome 20
A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.
Ring 22
Ring chromosome 22
r(22) syndrome
A rare autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.
Ring 4
Ring chromosome 4
Syndrome r(4)
r(4) syndrome
Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
Ring 6
Ring chromosome 6
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.
Worldwide AND has_cases/families_value : 25.0 (Case(s))
Ring 7
Ring chromosome 7
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.
Hereditary breast and/or ovarian cancer syndrome
- ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).
Ring 8
Ring chromosome 8
r(8) syndrome
A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.
Chronic infantile neurological cutaneous and articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).
Cleidocranial dysostosis
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
Rhizomelic shortness with clavicular defect
Wallis-Zieff-Goldblatt syndrome
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Aorta coarctation
OBSOLETE: Autosomal dominant coarctation of aorta
Abdominal coarctation
Coarctation of the abdominal aorta
MAC
Mid-aortic dysplastic syndrome
Mid-aortic syndrome
Midaortic syndrome
Middle aortic coarctation
A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).
Europe AND has_birth_prevalence_average_value : 0.17 AND has_birth_prevalence_range : 1-9 / 1 000 000
Aorta coarctation
A rare congenital non-syndromic heart malformation characterized by a discrete luminal narrowing of the aorta, typically located at the junction between the aortic arch and the descending aorta, opposite the site of ductus arteriosus insertion. Coarctation of aorta (CoA) is often associated with other cardiac anomalies including bicuspid aortic valve and tubular hypoplasia of the transverse arch.
Austria AND has_birth_prevalence_average_value : 78.5 AND has_birth_prevalence_range : 6-9 / 10 000
Belgium AND has_birth_prevalence_average_value : 43.7 AND has_birth_prevalence_range : 1-5 / 10 000
Croatia AND has_birth_prevalence_average_value : 22.7 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 35.6 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 27.5 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 59.4 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 31.0 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 32.5 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 39.6 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 9.5 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000
Ukraine AND has_birth_prevalence_average_value : 38.1 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 40.1 AND has_birth_prevalence_range : 1-5 / 10 000
Cerebrooculodentoauriculoskeletal syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the co-occurrence of Cerebral, Ocular, Dental, Auricular and Skeletal anomalies (acronym CODAS). CODAS syndrome was first reported and named in 1991. As more patients were described, the phenotype was found to be highly variable; patients do not always present with all the aforementioned features.
CEC
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.
Worldwide AND has_cases/families_value : 170.0 (Case(s))
Celiac disease-epilepsy-cerebral calcification syndrome
Papillary or follicular thyroid carcinoma
Well-differentiated thyroid carcinoma
A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).
Europe AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 5.25 AND has_annual_incidence_range : 1-9 / 100 000
Isolated CoQ-cytochrome C reductase deficiency
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Worldwide AND has_cases/families_value : 74.0 (Case(s))
Criss-cross atrioventricular relationships
Superoinferior ventricles
Twisted atrioventricular connections
Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.
Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000
Cor triatriatum
Double inlet atrioventricular connection
A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.
Worldwide AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000
CSS
A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.
Worldwide AND has_cases/families_value : 190.0 (Case(s))
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.
Worldwide AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
CPS1 deficiency
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Finland AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_birth_prevalence_average_value : 0.125 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.077 AND has_birth_prevalence_range : <1 / 1 000 000
Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000
Carbamoyl-phosphate synthetase 1 deficiency
Coloboma of macula-brachydactyly type B syndrome
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.
Uveal coloboma-cleft lip and palate-intellectual disability
Hittner-Hirsch-Kreh syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHARGE syndrome
Colobomatous-microphthalmia-heart disease-hearing loss syndrome
Coloboma of optic nerve with renal disease
Papillo-renal syndrome
A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Worldwide AND has_cases/families_value : 180.0 (Case(s))
ASD
Atrial septal defect
Interauricular communication
A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart.
Worldwide AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-5 / 10 000
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Atrial septal defect-atrioventricular conduction defects syndrome
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.
NON RARE IN EUROPE: Interventricular communication
NON RARE IN EUROPE: VSD
NON RARE IN EUROPE: Ventricular septal defect
A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.
United States AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000
Ladda-Zonana-Ramer syndrome
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Johnston-Aarons-Schelley syndrome
A rare arthrogryposis multiplex congenita characterized by contractures (of the large joints, fingers and toes) and hyperkeratosis. Patients present with prematurity and decreased or absent sensory response. Severe hypoplasia of the dorsal roots and posterior columns has been reported. It is a lethal condition that occurs in early infancy. There have been no further descriptions in the literature since 1993.
Arthrogryposis-hyperkeratosis syndrome, lethal form
Herva disease
LCCS1
Multiple contracture syndrome, Finnish type
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
Finland AND has_birth_prevalence_average_value : 3.96 AND has_birth_prevalence_range : 1-9 / 100 000
Finland AND has_point_prevalence_range : <1 / 1 000 000
Lethal congenital contracture syndrome type 1
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
ODP
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
Aural atresia-multiple congenital anomalies-intellectual disability syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.
Pertussis
A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.
Austria AND has_annual_incidence_average_value : 9.76 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 10.08 AND has_annual_incidence_range : 1-5 / 10 000
Bulgaria AND has_annual_incidence_average_value : 1.08 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 2.34 AND has_annual_incidence_range : 1-9 / 100 000
Cyprus AND has_annual_incidence_average_value : 0.88 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 10.7 AND has_annual_incidence_range : 1-5 / 10 000
Denmark AND has_annual_incidence_average_value : 19.16 AND has_annual_incidence_range : 1-5 / 10 000
Estonia AND has_annual_incidence_average_value : 4.66 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 8.9 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 5.1 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 15.4 AND has_annual_incidence_range : 1-5 / 10 000
Greece AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000
Hungary AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 5.3 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 3.58 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 8.48 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 2.22 AND has_annual_incidence_range : 1-9 / 100 000
Luxembourg AND has_annual_incidence_average_value : 2.14 AND has_annual_incidence_range : 1-9 / 100 000
Malta AND has_annual_incidence_average_value : 0.52 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 31.72 AND has_annual_incidence_range : 1-5 / 10 000
Norway AND has_annual_incidence_average_value : 47.24 AND has_annual_incidence_range : 1-5 / 10 000
Poland AND has_annual_incidence_average_value : 10.6 AND has_annual_incidence_range : 1-5 / 10 000
Portugal AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000
Romania AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 10.5 AND has_annual_incidence_range : 1-5 / 10 000
Slovenia AND has_annual_incidence_average_value : 9.5 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 8.3 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 8.5 AND has_annual_incidence_range : 1-9 / 100 000
CDPD
Corneal dystrophy with progressive deafness
Corneal dystrophy with progressive hearing loss
Corneal dystrophy-perceptive hearing loss syndrome
Harboyan syndrome
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.
Corneal dystrophy-perceptive deafness syndrome
OBSOLETE: Ben Ari-Shuper-Mimouni syndrome
OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
Da Silva syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Andermann syndrome
Charlevoix disease
A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
Specific population AND has_point_prevalence_average_value : 47.0 AND has_point_prevalence_range : 1-5 / 10 000
Corpus callosum agenesis-neuronopathy syndrome
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.
X-linked complicated corpus callosum dysgenesis
OBSOLETE: Cortada-Koussef-Matsumoto syndrome
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
Argentina AND has_birth_prevalence_average_value : 4.75 AND has_birth_prevalence_range : 1-9 / 100 000
Australia AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000
Cameroon AND has_birth_prevalence_average_value : 16.53 AND has_birth_prevalence_range : 1-5 / 10 000
Cuba AND has_birth_prevalence_average_value : 4.42 AND has_birth_prevalence_range : 1-9 / 100 000
Denmark AND has_birth_prevalence_average_value : 2.37 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 3.62 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 5.645 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 4.76 AND has_birth_prevalence_range : 1-9 / 100 000
Iran, Islamic Republic of AND has_birth_prevalence_average_value : 36.73 AND has_birth_prevalence_range : 1-5 / 10 000
Iraq AND has_birth_prevalence_average_value : 79.05 AND has_birth_prevalence_range : 6-9 / 10 000
Italy AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000
Kuwait AND has_birth_prevalence_average_value : 12.92 AND has_birth_prevalence_range : 1-5 / 10 000
Latin America AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
Lebanon AND has_birth_prevalence_average_value : 25.87 AND has_birth_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 6.35 AND has_birth_prevalence_range : 1-9 / 100 000
Mexico AND has_birth_prevalence_average_value : 6.75 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 3.01 AND has_birth_prevalence_range : 1-9 / 100 000
Nigeria AND has_birth_prevalence_average_value : 18.11 AND has_birth_prevalence_range : 1-5 / 10 000
North America AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 2.39 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 4.47 AND has_birth_prevalence_range : 1-9 / 100 000
Saudi Arabia AND has_birth_prevalence_average_value : 48.14 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 2.6466 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 4.195 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 3.63 AND has_birth_prevalence_range : 1-9 / 100 000
Ukraine AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000
United Arab Emirates AND has_birth_prevalence_average_value : 10.51 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 3.7877 AND has_birth_prevalence_range : 1-9 / 100 000
Venezuela AND has_birth_prevalence_average_value : 14.25 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 4.73 AND has_birth_prevalence_range : 1-9 / 100 000
NCP
Squamous cell carcinoma of the nasopharynx
Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.
Austria AND has_annual_incidence_average_value : 0.337 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.317 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.766 AND has_annual_incidence_range : 1-9 / 1 000 000
China AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.423 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.437 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.177 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.383 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.207 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.618 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.254 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.228 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 1.256 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 0.288 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.264 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.426 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.491 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.394 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.779 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.211 AND has_annual_incidence_range : 1-9 / 1 000 000
ACC
A rare malignant adrenal disease characterized by a tumor that arises from the adrenal cortex. The clinical presentation depends on the hormones secreted; in children virilization is a predominant feature; other manifestations can include symptoms of Cushing syndrome or symptoms related to tumor volume or metastases.
Austria AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.249 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.547 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.271 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.314 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_point_prevalence_average_value : 0.75 AND has_point_prevalence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.225 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.288 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.514 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.188 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.167 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.226 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.433 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.234 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.244 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.215 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.183 AND has_annual_incidence_range : 1-9 / 1 000 000
A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
Sharma-Kapoor-Ramji syndrome
An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.
Thin ribs-tubular bones-dysmorphism syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
Ischiocoxopodopatellar syndrome
Ischiopatellar dysplasia
Ischiopubicpatellar syndrome
SPS
Scott-Taor syndrome
Small patella syndrome
A rare genetic condition characterized by the association of patellar aplasia or hypoplasia, pelvic abnormalities, and foot malformations, with or without pulmonary arterial hypertension.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Hereditary papillary renal cell carcinoma
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Scott craniodigital syndrome
Scott-Bryant-Graham syndrome
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Craniodigital-intellectual disability syndrome
Sensenbrenner syndrome
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
BLSS
Bilateral lambdoid and sagittal synostosis
Isolated sagittal and bilambdoid craniosynostosis
Non-syndromic sagittal and bilateral lambdoid synostosis
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.
Spain AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000
Worldwide AND has_birth_prevalence_range : <1 / 1 000 000
Non-syndromic bilambdoid and sagittal craniosynostosis
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.
CFND
CFNS
Craniofrontonasal syndrome
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
Webster-Deming syndrome
A rare frontonasal dysplasia characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. There have been no further descriptions in the literature since 1994.
Craniofrontonasal dysplasia-Poland anomaly syndrome
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Worldwide AND has_cases/families_value : 160.0 (Case(s))
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under-ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.
Currarino disease
Currarino idiopathic osteoarthropathy
Reginato-Schiapachasse syndrome
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
OBSOLETE: Acro-cephalo-synostosis
OBSOLETE: Allain-Babin-Demarquez syndrome
OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
CDHS
Craniofacial-hearing loss-hand syndrome
Sommer-Young-Wee-Frye syndrome
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic craniosynostosis
OBSOLETE: Craniosynostosis-cataract syndrome
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
Australia AND has_birth_prevalence_average_value : 49.4 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 47.6 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000
Cerebellotrigeminal-dermal dysplasia syndrome
Craniosynostosis-alopecia-brain defect syndrome
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.
OBSOLETE: Lowry syndrome
OBSOLETE: Craniosynostosis-fibular aplasia syndrome
OBSOLETE: Imaizumi-Kuroki syndrome
OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type
Glass-Chapman-Hockley syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Muenke syndrome
Craniosynostosis-dysmorphism-brachydactyly syndrome
Braddock-Jones-Superneau syndrome
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Familial or idiopathic dilated cardiomyopathy
A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.
Europe AND has_annual_incidence_average_value : 2.91 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000
Familial isolated dilated cardiomyopathy
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
Craniosynostosis, Warman type
Warman-Mulliken-Hayward syndrome
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
Adolescent benign focal crisis
BFSA
A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
A cosmopolitan fungal infection due to Cryptococcus neoformans.
Europe AND has_annual_incidence_average_value : 11.0 AND has_annual_incidence_range : 1-5 / 10 000
Cryptomicrotia-brachydactyly syndrome
Tonoki-Ohura-Niikawa syndrome
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Van Benthem-Driessen-Hanveld syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
Cryptorchidism-arachnodactyly-intellectual disability syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Cryptosporidiosis
NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy
NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis
NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis
NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy
NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy
NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy
NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
Familial benign hypocupremia
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.
Currarino triad
A rare developmental defect during embryogenesis characterized by the triad of anorectal malformations, presacral mass and sacral anomalies.
Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Corpus callosum agenesis-polysyndactyly syndrome
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
Beare-Stevenson cutis gyrata syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
CMTC
Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
Cutis marmorata telangiectatica congenita
McDowall syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata
Cutis verticis gyrata-intellectual disability syndrome
Cysts and fistulae of the face and oral cavity
Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.
Tessier number 1-1 and 2-12 facial cleft
A rare form of cleft palate characterized by congenital muscular diastasis of the soft palate along the midline with an intact oral and nasal mucosal lining. It is diagnosed by the triad of a bifid uvula, a translucent zone in the soft palate, and a bony notch in the posterior edge of the hard palate, all of which may vary in severity. Velopharyngeal insufficiency in the absence of this triad is classified as occult submucosal cleft palate. Patients may be asymptomatic or present with early feeding problems with fluid reflux through the nose, speech problems, recurrent otitis media with effusions, and hearing loss.
Superior palpebral coloboma
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.
Inferior palpebral coloboma
Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.
Bilateral and symmetric oto-mandibular dysplasia
CPT1A deficiency
Carnitine palmitoyl transferase IA deficiency
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
L-CPT1 deficiency
L-CPTI deficiency
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000
Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
Carnitine palmitoyl transferase 1A deficiency
Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Syndromic keratoconus
TTF-1
TTF1
Fatal infantile COX deficiency
Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Fatal infantile cytochrome C oxidase deficiency
AAV
ANCA-associated vasculitis
Antineutrophil cytoplasmic antibody-associated vasculitis
Germany AND has_point_prevalence_average_value : 14.9 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 3.3 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 42.1 AND has_point_prevalence_range : 1-5 / 10 000
Anti-neutrophil cytoplasmic antibody-associated vasculitis
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Atypical Werner syndrome
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Pure dystonia
Retinal ciliopathy due to mutation in RP1 gene
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Retinal ciliopathy due to mutation in the RPGR gene
Retinal ciliopathy due to mutation in the RPGRIP gene
Retinal ciliopathy due to mutation in Usher gene
Retinal ciliopathy due to mutation in nephronophthisis gene
Retinal ciliopathy due to mutation in Bardet-Biedl gene
OBSOLETE: Gunal-Seber-Basaran syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary bone dysplasia with increased bone density
OBSOLETE: Dacryocystitis-osteopoikilosis syndrome
Otomandibular dysplasia associated with monogenic syndromes
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Peripheral fast-flow vascular malformation or fistula
OBSOLETE: Facial arteriovenous malformation
Syndrome or malformation associated with head and neck malformations
Pinnae and external auditory canal anomaly
Dahlberg syndrome
Lymphedema-hypoparathyroidism syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.
Dandy-Walker malformation-facial haemangioma syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome
Dandy-Walker malformation-facial hemangioma syndrome
Rare syndrome with cardiac malformations
DWM with postaxial polydactyly
Pierquin syndrome
A rare congenital limb malformation characterized by Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation (characterized by posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus) has a variable expression. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. There have been no further descriptions in the literature since 1999.
Dandy-Walker malformation-postaxial polydactyly syndrome
Short ribs-craniosynostosis-polysyndactyly syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Boomerang dysplasia
SEMD, MATN3-related
SEMD, matrilin-3 type
A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Dyssegmental dysplasia, Rolland-Desbuquois type
AP1S2-related X-linked intellectual disability
AP1S2-related neurodevelopmental disorder
Pettigrew Syndrome
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Xeroderma pigmentosum with neurologic manifestation
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum
CPT2
CPTII
Carnitine palmitoyltransferase deficiency type 2
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.
United States AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000
Carnitine palmitoyltransferase II deficiency
De Smet-Fabry-Fryns syndrome
Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.
Worldwide AND has_cases/families_value : 119.0 (Case(s))
OBSOLETE: CVID
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Common variable immunodeficiency and related disorders
OBSOLETE: Common variable immunodeficiency
HHRH
A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.
Hereditary hypophosphatemic rickets with hypercalciuria
HJMD
Hypotrichosis with juvenile macular dystrophy
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Hypotrichosis with juvenile macular degeneration
Mackay-Shek-Carr syndrome
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.
Retinal degeneration-nanophthalmos-glaucoma syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial infantile bilateral striatal necrosis
OBSOLETE: Infantile striatothalamic degeneration
Infantile striatonigral degeneration
Infantile striatonigral necrosis
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Symmetrical thalamic calcifications
OBSOLETE: Infantile thalamic degeneration
Congenital or early infantile CACH syndrome
OBSOLETE: Incomplete situs inversus
OBSOLETE: Partial situs inversus
OBSOLETE: Situs ambiguous
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Visceral heterotaxy
Hypospadias-hypertelorism-coloboma and hearing loss syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Branchioskeletogenital syndrome
Hypospadias-hypertelorism-coloboma and deafness syndrome
EHE
A rare vascular tumor characterized by a wide clinical variability ranging from indolent to locally aggressive behavior with a high metastatic potential. The tumor may arise anywhere in the body, most commonly in the lungs, liver and bones. Histologically, it is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma, and molecularly, it is characterized by WWTR1-CAMTA1 (approximately 90%) or YAP1-TFE3 (approximately 10%) gene fusions. Rarely, other fusion genes are found.
HMPS
Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
Hyperplastic polyposis syndrome
A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.
Worldwide AND has_cases/families_value : 21.0 (Case(s))
Pterin-4 alpha-carbinolamine dehydratase deficiency
MSSD
Syndactyly type 9
Syndactyly, Malik-Percin type
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.
Mesoaxial synostotic syndactyly with phalangeal reduction
Congenital pseudoarthrosis of the limbs
Isolated congenital pseudarthrosis of the limbs
A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.
Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.
Congenital gingival cell tumor
Congenital granular cell tumor
Neumann tumor
A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.
A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.
A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Worldwide AND has_cases/families_value : 90.0 (Case(s))
NBIA1
Neurodegeneration with brain iron accumulation type 1
A rare neurodegenerative disorder characterized by progressive dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic ''eye-of-the-tiger'' sign on T2-weighted MRI. Forms include classic disease with early onset and rapid progression and atypical disease with later onset and slower progression.
Europe AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic pantothenate kinase-associated neurodegeneration
Early-onset prion disease with prominent psychiatric features
HDL1
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.
HDL3
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
CID with granulomas and/or autoimmunity due to RAG defect
Combined immunodeficiency with granulomas and/or autoimmunity due to recombination activating gene defect
A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.
Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect
Alopecia-progressive neurological defect-endocrinopathy syndrome
A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).
Oculoauricular syndrome, Schorderet type
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
L-CMD
LMNA-related congenital muscular dystrophy
A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.
Congenital muscular dystrophy due to LMNA mutation
Generalized eruptive histiocytoma
A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.
A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.
CDSP
CUD
Carnitine transporter defect
Carnitine uptake deficiency
Deficiency of plasma-membrane carnitine transporter
SPCD
A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Australia AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000
China AND has_point_prevalence_average_value : 0.0069 AND has_point_prevalence_range : <1 / 1 000 000
Europe AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
Faroe Islands AND has_annual_incidence_average_value : 138.9 AND has_annual_incidence_range : >1 / 1000
Faroe Islands AND has_point_prevalence_average_value : 77.0 AND has_point_prevalence_range : 6-9 / 10 000
Japan AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
Distal monosomy 10p
Monosomy 10pter
Telomeric deletion 10p
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.
JXG
Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.
Germany AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_point_prevalence_average_value : 0.0225 AND has_point_prevalence_range : <1 / 1 000 000
Montgomery syndrome
A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.
Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.
Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.
Destombes-Rosaï-Dorfman disease
Rosaï-Dorfman-Destombes disease
SHML
Sinus histiocytosis with massive lymphadenopathy
A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.
Worldwide AND has_cases/families_value : 1000.0 (Case(s))
Indeterminate dendritic cell neoplasm
Indeterminate dendritic cell tumor
A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).
Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.
Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.
Hereditary progressive mucinous histiocytosis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-Langerhans cell histiocytosis
HLH
Hemophagocytic lymphohistiocytosis
Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).
United Kingdom AND has_annual_incidence_average_value : 0.198 AND has_annual_incidence_range : 1-9 / 100 000
Genetic HLH
Genetic hemophagocytic lymphohistiocytosis
Primary HLH
Primary hemophagocytic lymphohistiocytosis
Acquired hemophagocytic lymphohistiocytosis
Reactive hemophagocytic syndrome
Secondary hemophagocytic lymphohistiocytosis
IAHS
VAHS
Virus-associated hemophagocytic syndrome
Hemophagocytic syndrome associated with an infection
A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.
Aspartate tRNA ligase 2, mitochondrial
aspartate tRNA ligase 2, mitochondrial
mtAspRS
aspartyl-tRNA synthetase 2, mitochondrial
PDH
PDP
PPM2A
protein phosphatase, Mg2+/Mn2+ dependent 2A
pyruvate dehydrogenase phosphatase catalytic subunit 1
TRE
TREA
alpha,alpha-trehalase
alpha,alpha-trehalose glucohydrolase
NTE
SWS
iPLA2delta
neuropathy target esterase
sws
patatin like domain 6, lysophospholipase
Non-distal monosomy 10q
Non-telomeric monosomy 10q
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
Huntington disease phenocopy syndrome
Brazil AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000
BCL5
BCL6A
LAZ3
ZBTB27
H2-Bf
properdin B
properdin factor B
RPS17L1
RPS17L2
S17
eS17
non-protein coding RNA 3
GDF9B
CORD10
SemB
semF
bHLHe14
PTP
Phosphate carrier protein, mitochondrial
PiC
phosphate transport protein
DYT18
DYT9
GLUT-1
dystonia gene 18
dystonia gene 9
GLYT2
GlyT-2
Sodium- and chloride-dependent glycine transporter 2
glycine transporter 2
KIAA0267
NHE-6
NHE6
Sodium/hydrogen exchanger 6
CT5.2a
HD21
HOM-MEL-40
MGC3884
cancer/testis antigen family 5, member 2a
sarcoma, synovial, X-chromosome-related 2
synovial sarcoma, X breakpoint 2, isoform b
synovial sarcoma, X breakpoint 2B
succinate-CoA ligase GDP/ADP-forming subunit alpha
ALS10
TDP-43
HNF1
HNF1a
HNF1α
LFB1
HNF1beta
HNF1β
HNF1ß
LFB3
MODY5
VHNF1
hepatocyte nuclear factor 1 beta
ITF2
SEF2-1B
SL3-3 enhancer factor 2
bHLHb19
class B basic helix-loop-helix protein 19
immunoglobulin transcription factor 2
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Epidermolysis bullosa simplex
OBSOLETE: Suprabasal epidermolysis bullosa simplex
OBSOLETE: Basal epidermolysis bullosa simplex
McGrath syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
Ectodermal dysplasia-skin fragility syndrome
Localized DEB, acral form
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.
Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, nails only
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.
Localized dystrophic epidermolysis bullosa, nails only
EBS with circinate migratory erythema
EBS-migr
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.
Epidermolysis bullosa simplex with circinate migratory erythema
EBS with pyloric atresia
EBS-PA
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.
Epidermolysis bullosa simplex with pyloric atresia
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.
Del(13)(q14)
Deletion 13q14
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Aggressive systemic mastocytosis
OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Mast cell leukemia
CACT deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Carnitine-acylcarnitine translocase deficiency
13q32 deletion
Deletion 13q32
Distal monosomy 13q
Monosomy 13q32
Telomeric deletion 13q
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
LAP2
LEM domain containing 4
LEMD4
CD254
ODF
OPGL
RANKL
TRANCE
troponin C1, slow skeletal and cardiac type
GYF domain containing 2
GYF2
KIAA0642
JTK1
HHR6A
HR6A
RAD6A
UBC2
ubiquitin recognition factor in ER associated degradation 1
Metavinculin
VINC
metavinculin
HBII-85
PET1
small nucleolar RNA, C/D box 116 cluster
FBRSL2
KIAA0442
activator of transcription and developmental regulator AUTS2
NOP10P
homolog of yeast Nop10p
GTL2
Lnc-DLK1-35
gene trap locus 2
long intergenic non-protein coding RNA 23
non-protein coding RNA 23
onco-lncRNA-83
HUR1
MART1
Mar1
PEG11
SIRH2
Sushi-Ichi retrotransposon homolog 2
mammalian retrotransposon-derived 1
paternally expressed 11
P2Y5
KIND1
UNC112A
URP1
kinderlin
kindlin-1
KEN
KIAA0402
PCNTB
kendrin
CD3-DELTA
CD3DELTA
T-cell surface glycoprotein CD3 delta chain
CD3 delta subunit of T-cell receptor complex
CD3-epsilon
CD3epsilon
T-cell surface glycoprotein CD3 epsilon chain
CD3 epsilon subunit of T-cell receptor complex
ALS11
SAC3
hSac3
HRIHFB2122
KIAA1662
TAP68
Tara
ARCA1
CPG2
Enaptin
KIAA0796
MYNE1
Nesp1
Nesprin-1
SCAR8
SYNE-1B
dJ45H2.2
enaptin
myocyte nuclear envelope protein 1
nuclear envelope spectrin repeat-1
spectrin repeat containing nuclear envelope protein 1
KIAA1516
NPHS3
Nephrosis type 3
PLCE
nephrosis type 3
phosphoinositide phospholipase C
BRODL
Bromo Domain-Containing Protein Disrupted In Leukemia
MRX93
bromodomain and WD repeat domain containing 3
B-cell stimulating factor 3
BSF-3
BSF3
CISS2
CLC
NNT-1
NNT1
NR6
cold-induced sweating syndrome 2
novel neurotrophin-1
MG61
PORC
PPN
por
CHAK1
LTRPC7
TRP-PLIK
transient receptor potential cation channel subfamily M member 7
EVIN1
LAK-4P
Ymer
CGI-89
DHHC9
ZNF379
ZNF380
Zinc finger protein 379
Zinc finger protein 380
ATP6N1D
ATP6a2
J6B7
RTF
TJ6
TJ6M
TJ6s
V-ATPase subunit a2
V-type proton ATPase 116 kDa subunit a2
a2V
regeneration and tolerance factor
LPDLR
PLA1B
mPA-PLA1
mPA-PLA1alpha
phospholipase A(1)
KIAA0847
acetylcholine receptor, nicotinic, alpha 2 (neuronal)
cholinergic receptor nicotinic alpha 2 subunit
Kv8.2
potassium voltage-gated channel modifier subfamily V member 2
RET1
PPP1R147
SPRED-1
protein phosphatase 1, regulatory subunit 147
sprouty related EVH1 domain containing 1
CLCK1
Chloride channel protein ClC-Ka
ClC-K1
hClC-Ka
HUPF3B
MRX82
RENT3B
UPF3X
UPF3B regulator of nonsense mediated mRNA decay
EVIN2
FYVE-CENT
KIAA0321
spastizin
B-ALPHA-1
TUBA3
Tubulin, alpha, brain-specific
tubulin, alpha, brain-specific
LIV-1 subfamily of ZIP zinc transporters human member 9
LZT-Hs9
ZIP-13
ZIP13
ZRT/IRT-like protein 13
Zinc transporter ZIP13
zinc transporter 13
Tmhs
tetraspan membrane protein of hair cell stereocilia
CDHF13
LAH
DALRD2
PRO1992
arginine tRNA ligase 2, mitochondrial (putative)
arginyl-tRNA synthetase 2, mitochondrial
CNGB1B
GAR1
GARP
RCNC2
RCNCb
RP45
cyclic nucleotide-gated cation channel beta-1
glutamic acid-rich protein
cyclic nucleotide gated channel subunit beta 1
LUN
TP53BPL
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
NOP4
KIAA1025
TRAP240L
KIAA1858
Zfp469
vitamin K oxidoreductase
vitamin K epoxide reductase complex subunit 1
G-CSF-R
GCSFR
granulocyte colony-stimulating factor receptor
GT24
NPRAP
neural plakophilin-related arm-repeat protein
neurojungin
CLN10
ceroid-lipofuscinosis, neuronal 10
CG1
F18
Cernunnos
XLF
XRCC4-like factor
BOM
brother-of-MGR
CycM
cyclin M
LUMA
MGC3222
SLC74A1
major facilitator superfamily domain containing 8
DHFR1
TGD
Tangier disease
ATP binding cassette subfamily A member 1
Delta1
FA1
Pref-1
ZOG
pG2
JBTS9
KIAA1345
MKS6
Meckel syndrome, type 6
TERE1
transitional epithelia response protein
UbiA prenyltransferase domain containing 1
Gliostatin
gliostatin
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
CSX2
NKX4-2
Erythrocyte surface protein band 4.2
CD16
CD16b
Fc gamma receptor IIIb
FcRIIIb
FcgammaRIIIb
HNA-1
human neutrophil antigen 1
HBGF-3
INT-2 proto-oncogene protein
V-INT2 murine mammary tumor virus integration site oncogene homolog
murine mammary tumor virus integration site 2, mouse
oncogene INT2
DRAL
SLIM3
fragile X mental retardation associated 3
CIG
Cold-insoluble globulin
FINC
GFND2
LETS
Migration-stimulating factor
cold-insoluble globulin
lnc-ABCA12-8
migration-stimulating factor
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
FAST1
forkhead activin signal transducer-1
FTH
H-ferritin
PIG15
PLIF
apoferritin
placenta immunoregulatory factor
proliferation-inducing protein 15
FUS1
HNRNPP2
TLS
heterogeneous nuclear ribonucleoprotein P2
hnRNP-P2
translocated in liposarcoma
GABA(A) receptor, beta 3
gamma-aminobutyric acid type A receptor subunit beta3
hGCMb
LNRH
gonadoliberin
progonadoliberin-1
P504S
RACE
Distal monosomy 17q
Monosomy 17qter
Telomeric deletion 17q
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.
HEL168
Homo sapiens epididymis luminal protein 168
RAA1
RNASE5
ribonuclease A family member 5
HLF transcription factor, PAR bZIP family member
Homeobox protein HMX1
NK5 homeobox 3
NKX5-3
non-protein coding RNA 20
hydatidiform mole associated and imprinted
IGF-II
preptin
somatomedin A
CD127
CDw127
IL-7Ralpha
IL7RA
IL7Ralpha
Interleukin-7 receptor subunit alpha
lnc-IL7R
sIL-7R
soluble interleukin-7 receptor
Kv3.3
potassium voltage-gated channel subfamily C member 3
Kir1.4
Kir7.1
LCA16
potassium inwardly rectifying channel subfamily J member 13
SCDO3
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
DBS
Megalin
gp330
megalin
ADCAD2
MALT1 protease
PCASP1
paracaspase 1
ASH1
HASH1
bHLHa46
achaete-scute family bHLH transcription factor 1
A6L
ATP8
URFA6L
mitochondrially encoded ATP synthase membrane subunit A6L
mitochondrially encoded ATP synthase membrane subunit 8
MYCC
bHLHe39
c-Myc
MYC proto-oncogene, bHLH transcription factor
IKBA
IkappaBalpha
MAD-3
NF-kappa-B inhibitor alpha
B23
NPM
Nucleophosmin/nucleoplasmin family, member 1
Numatrin
nucleolar phosphoprotein B23
numatrin
18p- syndrome
De Grouchy syndrome type 1
A rare deletion of all or part of the short arm of chromosome 18 characterized by a highly variable phenotype, most commonly including global developmental delay, short stature, and dysmorphic facial features.
Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
phosphorylase kinase catalytic subunit gamma 2
LOT1
ZAC
AC133
AC133 antigen
CD133
CORD12
RP41
Retinitis pigmentosa 41, Cone-rod dystrophy 12
β-actin
ß-actin
PEO
PEO1
T7 helicase-related protein with intramitochondrial nucleoid localization
TWINKLE
TWINL
ACV
IP3R1
Insp3r1
PPP1R94
protein phosphatase 1, regulatory subunit 94
inositol 1,4,5-trisphosphate receptor type 1
ERK
ERK2
Extracellular signal-regulated kinase 2
MAPK2
p41mapk
PSA
PSAT
phosphoserine transaminase
HBII-52
small nucleolar RNA, C/D box 115 cluster
AT2
MRX88
KIAA1232
MRX90
NE-Dlg
NEDLG
PPP1R82
SAP-102
SAP102
neuroendocrine-dlg
protein phosphatase 1, regulatory subunit 82
synapse associated protein 102
IL1R8
IL1RAPL-1
OPHN4
TIGIRR-2
Three immunoglobulin domain-containing IL-1 receptor-related 2
interleukin 1 receptor accessory protein like 1
ARHGAP41
OPN1
bPAK
hPAK3
MRT7
MagT2
Magnesium uptake/transporter TUSC3
N33
OST3A
SLC58A2
oligosaccharyltransferase 3 homolog A (S. cerevisiae)
AP-2
AP-2alpha
QCR8
QP-C
UQCR7
complex III subunit 8
ubiquinol-cytochrome c reductase, complex III subunit VII
ubiquinol-cytochrome c reductase complex III subunit VII
MP17
MP19
HTGL
Triacylglycerol lipase
ALS
insulin like growth factor binding protein acid labile subunit
BRP17
DYT8
FKSG19
FPD1
KIAA1184
KIPP1184
MR-1
MR-1S
PDC
PKND1
TAHCCP2
myofibrillogenesis regulator 1
PNKD metallo-beta-lactamase domain containing
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.
Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia
A rare lymphoid hemopathy characterized by involvement of lymph nodes in any part of the body, most frequently the mediastinum, abdomen, neck, or spleen, and occurring as unicentric, idiopathic multicentric, or KSHV/HHV8-associated multicentric Castleman disease. Depending on the type, patients are most commonly asymptomatic or typically present with systemic symptoms.
United States AND has_annual_incidence_range : 1-9 / 100 000
18q deletion syndrome
18q- syndrome
De Grouchy syndrome type 2
Deletion 18q
A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.
Worldwide AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000
cytochrome P450 family 4 subfamily F member 22
RAX1
retinal homeobox protein Rx
retina and anterior neural fold homeobox
A-kinase anchor protein, 350kDa
A-kinase anchoring protein 450
AKAP120-like protein
AKAP350
AKAP450
AKAP9-BRAF fusion protein
CG-NAP
HYPERION
KIAA0803
LQT11
PPP1R45
PRKA9
YOTIAO
centrosome- and golgi-localized protein kinase N-associated protein
protein kinase A anchoring protein 9
protein phosphatase 1, regulatory subunit 45
yotiao
LQT10
sodium voltage-gated channel beta subunit 4
CD246
ARK3
AurC
APOCIII
Apo-C3
Apo-CIII
ApoC-3
ApoC-III
CP115
CP94
Filensin
LIFL-H
filensin
ARMD9
C3a
C3a anaphylatoxin
C3b
CPAMD1
complement component C3a
complement component C3b
prepro-C3
C4A2
C4A3
C4A4
C4A6
C4B
C4S
CO4
CPAMD2
complement C4A (Chido/Rodgers blood group)
C4B1
C4B3
C4F
CPAMD3
complement C4B (Chido/Rodgers blood group)
C5a
C5a anaphylatoxin
C5b
CPAMD4
prepro-C5
alpha2delta-4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
C3DR
CD21
Epstein-Barr virus receptor
Cap inflammatory polyposis
Eroded polypoid hyperplasia
Inflammatory myoglandular polyps
Polypoid prolapsing folds
A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.
Worldwide AND has_cases/families_value : 67.0 (Case(s))
HER3
human epidermal growth factor receptor 3
ERR2
ERRb
ERRbeta
NR3B2
KMT8E
MDS1-EVI1
PR domain 3
PRDM3
hGLE1
CD25
CFAP167
FAP167
KIAA1374
GSY
TRIC
tricellulin
KANK
KIAA0172
Kidney ankyrin repeat-containing protein
trnI
mitochondrially encoded tRNA-Ile (AUU/C)
trnW
mitochondrially encoded tRNA-Trp (UGA/G)
muscle associated receptor tyrosine kinase
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
KIAA0589
PIP5Kgamma
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
ACKR6
NIR1
RDGBA3
atypical chemokine receptor 6
CMD1P
PDXPO
pyridoxal 5'-phosphate synthase
DFNB61
PRESTIN
deafness, neurosensory, autosomal recessive, 61
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
United States AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000
OBSOLETE: Monosomy 20p
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Partial deletion of the short arm of chromosome 20
Del(2)(q24)
Monosomy 2q24
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Congenital cataract-ASD syndrome
Congenital cataract-ASGD syndrome
Congenital cataract-ASMD syndrome
Congenital cataract-anterior segment mesenchymal dysgenesis syndrome
A rare genetic ophthalmic syndrome characterized by congenital progressive posterior cataract (usually bilateral) and anterior segment mesenchymal dysgenesis that can be associated with unilateral or bilateral glaucoma (either congenital or develop at a young age). Some patients may present only with cataracts. Microcornea (sometimes bilateral), corneal opacities including posterior embryotoxon, iris atrophy/iridocorneal adhesions and nystagmus are reported as additional clinical features in some patients.
Congenital cataract-anterior segment dysgenesis syndrome
3p deletion syndrome
3p- syndrome
Distal monosomy 3p
Monosomy 3pter
Telomeric monosomy 3p
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
Worldwide AND has_cases/families_value : 34.0 (Case(s))
Del(3)(q13)
Monosomy 3q13
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
Worldwide AND has_cases/families_value : 42.0 (Case(s))
OBSOLETE: Monosomy 4q
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Partial deletion of the long arm of chromosome 4
Isolated apertura pyriformis stenosis
Isolated nasal pyriform aperture hypoplasia
A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.
Isolated congenital nasal pyriform aperture stenosis
OBSOLETE: Apertura pyriformis with holoprosencephaly
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Microform holoprosencephaly
OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly
Congenital auditory ossicle malformation without external ear abnormality
Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.
Isolated congenital auditory ossicle malformation
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
HHCS
Hereditary hyperferritinemia with cataracts
Hereditary hyperferritinemia-cataract disease
A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
Hereditary hyperferritinemia-cataract syndrome
Brain malformation due to abnormal neuronal migration
Non-syndromic cerebral malformation due to abnormal neuronal migration
A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.
United States AND has_annual_incidence_average_value : 0.63 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 1.4805 AND has_point_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare cutaneous lupus erythematosus
OBSOLETE: Acute cutaneous lupus erythematosus
A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.
Alpha-thalassemia hydrops fetalis
Alpha-thalassemia major
BHFS
HBHF
Haemoglobin Bart's disease
Haemoglobin Bart's hydrops fetalis
Hb Bart's hydrops fetalis syndrome
Hemoglobin Bart's disease
Hemoglobin Bart's hydrops fetalis
Homozygous alpha0-thalassemia
A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
South East Asia AND has_birth_prevalence_average_value : 275.0 AND has_birth_prevalence_range : >1 / 1000
United States AND has_birth_prevalence_average_value : 7.6 AND has_birth_prevalence_range : 1-9 / 100 000
Distal deletion 7q36
Monosomy 7qter
Telomeric deletion 7q36
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.
Bile acid synthesis defect with cholestasis and malabsorption
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported.
Rare disorder related with pregnancy, childbirth and puerperium
Spondyloepiphyseal dysplasia, Nishimura type
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
SED-BDS
Spondyloepiphyseal dysplasia, Cantu type
Tattoo dysplasia
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, vertebral abnormalities (including irregular vertebral endplates especially in the dorsal spine, lumbar lordosis, spondylolysis, spondylolisthesis), femoral abnormalities (including small femoral capital epiphyses, flat femoral head and subluxation and sloping acetabulum) and cervical spine abnormalities typically manifest as atlantoaxial subluxation and instability associated with os odontoideum. Affected individuals present with severe neurological complications following minor trauma due to cervical instability, including quadriparesis, brisk reflexes, clonus, spasticity, bulbar palsy and seizures. Additional clinical features may include mild joint laxity, short, clubbed fingers, wasting of small hand muscles, tongue fasciculations and progressive breathing difficulty. There have been no further descriptions in the literature since 1994.
Spondyloepiphyseal dysplasia, Reardon type
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficiency. Typical radiographic features include platyspondyly, abnormal lumbar vertebral bodies with anterior tongue-like protrusions, and the presence of degenerative large joint changes in the shoulder, hip and knee joints manifesting as narrowing of the joint spaces and irregularities of the articulate surfaces. Dens epistropheus may be absent. There have been no further descriptions in the literature since 1987.
Spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes including lumbar lordosis and platyspondyly and sensorineural deafness. Adult-onset myopia and retinal detachment have been reported in some patients. Additional clinical features may include clinodactyly, pes planus and prominent heel. There have been no further descriptions in the literature since 1987.
Spondyloepiphyseal dysplasia, MacDermot type
Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia, Byers type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Spondylometaphyseal dysplasia
OBSOLETE: Unclassified spondylometaphyseal dysplasia
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
CNTNAP2-related developmental and epileptic encephalopathy
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Leukoencephalopathy-dystonia-motor neuropathy syndrome
A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.
Worldwide AND has_cases/families_value : 22.0 (Case(s))
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
AMRF
EPM4
Myoclonus-nephropathy syndrome
Progressive myoclonic epilepsy type 4
Progressive myoclonus epilepsy type 4
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
Worldwide AND has_cases/families_value : 38.0 (Case(s))
ASPS
Alveolar soft part sarcoma
A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.
AERRPS
Acute encephalitis with refractory repetitive partial seizures
Acute non-herpetic encephalitis with severe refractory status epilepticus
DESC syndrome
Devastating epileptic encephalopathy in school-aged children
FIRES
Fever-induced refractory epileptic encephalopathy in school-aged children
A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.
Germany AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_range : Unknown
Febrile infection-related epilepsy syndrome
Late-onset infantile spasms
Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.
FLTLE
Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.
Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
Worldwide AND has_cases/families_value : 277.0 (Case(s))
Rolandic epilepsy-speech dyspraxia syndrome
Rolandic epilepsy exercise-induced dystonia
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Autoimmune encephalitis
OBSOLETE: Paraneoplastic limbic encephalitis
OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autoimmune encephalitis
OBSOLETE: Classic paraneoplastic limbic encephalitis
OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens
OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
OBSOLETE: Limbic encephalitis with LGI1 antibodies
OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies
OBSOLETE: Limbic encephalitis with nCMAgs antibodies
OBSOLETE: Non-paraneoplastic limbic encephalitis
PALE
Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.
Posttransplant acute limbic encephalitis
OBSOLETE: Non-herpetic acute limbic encephalitis
LPP
Localized pustular psoriasis
PPP
Palmoplantar pustulosis
A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.
Worldwide AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000
A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.
Europe AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
X-linked intellectual disability, Najm type
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lujan-Fryns syndrome
X-linked intellectual disability, Raymond type
X-linked intellectual disability-nail dystrophy-seizures syndrome
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
X-linked intellectual disability, Nascimento type
X-linked intellectual disability, Kroes type
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
X-linked cerebral-cerebellar-coloboma syndrome
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked intellectual disability-microcephaly-testicular failure syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypergonadotropic hypogonadism associated with small and abnormal testes, microcephaly, small hands and nails, fifth finger clinodactyly, mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, high nasal bridge, large ears), and mild learning difficulties.
X-linked intellectual disability, Cilliers type
A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorphism include upslanted palpebral fissures and prominent nasal bridge.
X-linked intellectual disability, Van Esch type
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
X-linked intellectual disability-craniofacioskeletal syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Allan-Herndon-Dudley syndrome
X-linked intellectual disability-spastic quadriparesis syndrome
A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.
OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type
NON RARE IN EUROPE: Brain cavernous angioma
NON RARE IN EUROPE: Brain cavernous hemangioma
NON RARE IN EUROPE: Cerebral cavernoma
NON RARE IN EUROPE: Cerebral cavernous malformations
Distal monosomy 9p
Monosomy 9pter
Telomeric deletion 9p
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
Worldwide AND has_cases/families_value : 89.0 (Case(s))
Del(X)(p23)
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.
Worldwide AND has_point_prevalence_average_value : 20.8 AND has_point_prevalence_range : 1-5 / 10 000
Delleman syndrome
Delleman-Oorthuys syndrome
Leichtman-Wood-Rohn syndrome
OCCS
Orbital cyst with cerebral and focal dermal malformations
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.
AML and myelodysplastic syndromes related to radiation
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.
Worldwide AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
FASPS
A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.
NON RARE IN EUROPE: Cortical Lewy body disease
NON RARE IN EUROPE: DLB
NON RARE IN EUROPE: Diffuse Lewy body disease
NON RARE IN EUROPE: Lewy body dementia
NON RARE IN EUROPE: Dementia with Lewy body
Lipidosis with triglyceride storage disease
Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.
Dent syndrome
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Renal Fanconi syndrome with nephrocalcinosis and renal stones
X-linked recessive hypercalciuric hypophosphatemic rickets
X-linked recessive nephrolithiasis
A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.
Worldwide AND has_cases/families_value : 250.0 (Family(ies))
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Neuronal intestinal pseudoobstruction
OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome
Urioste syndrome
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
bHLH factor Hes7
bHLHb37
Duhring-Brocq disease
A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.
Europe AND has_point_prevalence_average_value : 27.0 AND has_point_prevalence_range : 1-5 / 10 000
Finland AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_point_prevalence_average_value : 75.3 AND has_point_prevalence_range : 6-9 / 10 000
Ireland AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_point_prevalence_average_value : 17.6 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 11.5 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 11.2 AND has_point_prevalence_range : 1-5 / 10 000
Rare genetic gastroenterological disease
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.
Non-syndromic urogenital tract malformation
Absence of dermatoglyphics-congenital milia syndrome
Baird syndrome
Basan-Baird syndrome
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.
Absence of fingerprints-congenital milia syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Genetic epilepsy with febrile seizure plus
Familial mesial temporal lobe epilepsy with febrile seizures
CKID
CKIdelta
HCKID
Gli-similar 3
ENDAP
MAPBPIP
MAPKSP1 adaptor protein
MAPKSP1AP
Ragulator2
endosomal adaptor protein
mitogen activated protein binding protein interacting protein
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Cutis laxa-leukodystrophy
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.
CCN2
IGFBP8
Acetyl-CoA C-myristoyltransferase
Propanoyl-CoA C-acyltransferase
SCP-2/3-oxoacyl-CoA thiolase
SCP-2/thiolase
SCP-X
SCPx
non-specific lipid transfer protein
nsLTP
HLGP85
LIMP-2
LIMPII
SR-BII
lysosomal integral membrane protein II
lysosome membrane protein 2
KIAA0436
Caspr2
KIAA0868
NRXN4
contactin-associated protein-like 2
Traumatic myiasis
A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.
Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Cutaneous myiasis
acetylcholine receptor, nicotinic, beta 2 (neuronal)
cholinergic receptor nicotinic beta 2 subunit
CAGH39
FGS4
LIN2
calcium/calmodulin dependent serine protein kinase
Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
Diazoxide-sensitive diffuse hyperinsulinism
Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.
Diazoxide-resistant diffuse hyperinsulinism
EIHI
Exercise-induced hyperinsulinemic hypoglycemia
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.
PRTH
Selective pituitary resistance to thyroid hormone
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
CMT/HMSN
Charcot-Marie-Tooth hereditary neuropathy
Cyprus AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000
Denmark AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000
Iceland AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000
Japan AND has_point_prevalence_average_value : 10.8 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_point_prevalence_average_value : 61.0 AND has_point_prevalence_range : 6-9 / 10 000
Serbia AND has_point_prevalence_average_value : 9.7 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 28.2 AND has_point_prevalence_range : 1-5 / 10 000
Sweden AND has_point_prevalence_average_value : 19.55 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 15.95 AND has_point_prevalence_range : 1-5 / 10 000
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Worldwide AND has_cases/families_value : 59.0 (Case(s))
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia-myopia-deafness syndrome
Multiple epiphyseal dysplasia-myopia-hearing loss syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Stickler syndrome
Multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia, Al-Gazali type
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
Multiple epiphyseal dysplasia-miniepiphyses syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.
Brachydactyly-short stature-retinitis pigmentosa syndrome
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
Metaphyseal chondrodysplasia, Kaitila type
KIAA0424
PEM-2
collybistin
Cdc42 guanine nucleotide exchange factor 9
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
PCH4
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Fetal-onset olivopontocerebellar hypoplasia
PCH5
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with mitochondrial respiratory chain defects
PCH6
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.
Worldwide AND has_point_prevalence_average_value : 0.935 AND has_point_prevalence_range : 1-9 / 1 000 000
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.
Austria AND has_point_prevalence_average_value : 0.037 AND has_point_prevalence_range : <1 / 1 000 000
Finland AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : <1 / 1 000 000
France AND has_point_prevalence_average_value : 0.016 AND has_point_prevalence_range : <1 / 1 000 000
Greece AND has_birth_prevalence_average_value : 0.044 AND has_birth_prevalence_range : <1 / 1 000 000
Israel AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : <1 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.055 AND has_point_prevalence_range : <1 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 0.037 AND has_point_prevalence_range : <1 / 1 000 000
Norway AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
Portugal AND has_point_prevalence_average_value : 0.022 AND has_point_prevalence_range : <1 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.011 AND has_point_prevalence_range : <1 / 1 000 000
Sweden AND has_point_prevalence_average_value : 0.312 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.027 AND has_point_prevalence_range : <1 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.1865 AND has_point_prevalence_range : 1-9 / 1 000 000
Corneal dystrophy epithelial-short stature syndrome
Guízar Vázquez-Luengas-Muñoz syndrome
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
AD OSMED
Stickler syndrome type 3
Stickler syndrome, non-ocular type
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
Autosomal dominant otospondylomegaepiphyseal dysplasia
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.
FASTKD2-related infantile mitochondrial encephalomyopathy
Birk-Barel Intellectual Disability-Dimorphism syndrome
Intellectual disability-hypotonia-facial dysmorphism syndrome
KCNK9 imprinting syndrome
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.
Acrokeratosis of Bazex
Acrokeratosis paraneoplastica
Acrokeratosis paraneoplastica of Bazex
A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies).
Worldwide AND has_cases/families_value : 145.0 (Case(s))
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.
Worldwide AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
K2p9.1
TASK-3
TASK3
TWIK-related acid-sensitive K+ 3
potassium two pore domain channel subfamily K member 9
Capdepont teeth
DGI-2
DI-2
Dentinogenesis imperfecta, Shields type 2
Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.
Europe AND has_point_prevalence_average_value : 14.6 AND has_point_prevalence_range : 1-5 / 10 000
Dentinogenesis imperfecta, Shields type 3
Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.
Suarez-Stickler syndrome
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.
Comedo nevus of the palm
Porokeratotic eccrine nevus
Worldwide AND has_cases/families_value : 45.0 (Case(s))
Porokeratotic eccrine ostial and dermal duct nevus
Dirofilariasis is a form of filariasis, caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis. The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited infantile epilepsy
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited infantile epilepsy
Benign partial epilepsy of infancy with complex partial seizures
Benign partial epilepsy with secondarily generalized seizures in infancy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Neonatal-infantile onset epilepsy syndrome
OBSOLETE: Benign infantile seizures associated with mild gastroenteritis
BIMSE
Benign infantile focal epilepsy with midline spikes and waves during sleep
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Lethal multiple congenital anomalies/dysmorphic syndrome
OBSOLETE: Embryonary disorganization syndrome
POLE
A rare epilepsy syndrome with onset in childhood and adolescence characterized by focal seizures involving the occipital lobe triggered by visual stimuli.
Worldwide AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000
HWE
Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
Worldwide AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).
Eating epilepsy
Eating seizures
A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.
Worldwide AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
A rare reflex epilepsy characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.
A rare reflex epilepsy characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.
Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.
A rare reflex epilepsy characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.
EwRIS
A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.
Worldwide AND has_cases/families_value : 101.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Encephalitis
OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis
Chromosomal anomaly with epilepsy as a major feature
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Inflammatory and autoimmune disease with epilepsy
Cerebral diseases of vascular origin with epilepsy
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.
Sporadic fetal brain disruption sequence
A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.
MUNC18-1
UNC18
hUNC18
nSec1
rbSec1
syntaxin-binding protein 1
HRPAP20
HSPC125
My013
NADH:ubiquinone oxidoreductase complex assembly factor 4
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
EFGM
EGF1
GFM
mtEF-G1
ERIS
Miner1
NAF-1
endoplasmic reticulum intermembrane small protein
mitoNEET related 1
nutrient-deprivation autophagy factor-1
QCR7
UQCR6
cytochrome b-c1 complex subunit 7
ubiquinol-cytochrome c reductase, complex III subunit VI
ubiquinol-cytochrome c reductase binding protein
thyrotropin subunit beta
thyroid stimulating hormone subunit beta
trnH
mitochondrially encoded tRNA-His (CAU/C)
Rare bleeding disorder due to an acquired coagulation factor defect
Rare coagulopathy due to an acquired coagulation factor defect
Rare hemorrhagic disorder due to an acquired coagulation factor defect
OAT4L
RST
UAT
URAT1
hURAT1
renal-specific transporter
urate anion transporter 1
CT108
cancer/testis antigen 108
Brush border myosin I
Unconventional myosin-Ia
DFNA40
ketimine reductase
mu-crystallin
thiomorpholine-carboxylate dehydrogenase
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Worldwide AND has_cases/families_value : 500.0 (Case(s))
Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.
Diastematomyelia
SCM type 1
SCM type I
Split cord malformation type 1
A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum.
Diencephalic cachexia
Diencephalic syndrome of childhood
Diencephalic syndrome of emaciation
Russell diencephalic cachexia
Russell syndrome
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
DRC syndrome
Eronen-Somer-Gustafsson syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to DOORS syndrome
Familial pyrimidinemia
A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.
Dihydropyrimidine dehydrogenase deficiency
Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.
Arndt-Gottron disease
Generalized lichenoid papular eruption
Generalized papular and sclerodermoid lichen myxedematosus
A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.
A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.
Familial idiopathic dilatation of the right atrium
Unclassified AML
Europe AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000
ACID1
ARC92
TCBAP0758
A group of rare disorders comprises dentinogenesis imperfecta and dentin dysplasia characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. Clinically, the teeth are discolored and exhibit structural defects, such as bulbous crowns and small pulp chambers on radiographs. The underlying mineralization defect often results in shearing of the overlying enamel, leaving weakened dentin exposed and prone to wear.
Rare disease with dentinogenesis imperfecta
Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome
BF1
HBF-3
HFK1
HFK2
HFK3
QIN
brain factor 1
K-glypican
glypican proteoglycan 4
CD283
PGAM-M
KIAA0347
ARHGEF45
GEF720
KIAA0720
Syx
Tech
synectin-binding guanine exchange factor
pleckstrin homology and RhoGEF domain containing G5
COXG
SYN-16
SYN16
hsyn16
A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.
TRNS1
mitochondrially encoded tRNA-Ser (UCN) 1
RP8
TRNS2
mitochondrially encoded tRNA-Ser (AGU/C) 2
trnF
mitochondrially encoded tRNA-Phe (UUU/C)
Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.
OBSOLETE: Little syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare movement disorder
OBSOLETE: Spastic diplegia, infantile type
Pam18
TIMM14
Tim14
mitochondrial import inner membrane translocase subunit TIM14
DnaJ heat shock protein family (Hsp40) member C19
CLN11
PCDGF
PGRN
progranulin
15-hydroxyprostaglandin dehydrogenase (NAD(+))
SDR36C1
short chain dehydrogenase/reductase family 36C, member 1
KIAA0260
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
UGTREL7
glutamine synthetase
HK2
HPCN1
Kv1.5
potassium voltage-gated channel subfamily A member 5
ISU2
IscU
hnifU
L-kynurenine hydrolase
Craniofacial duplication
Diprosopia
Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.
Argentina AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
p53R2
ribonucleotide reductase regulatory TP53 inducible subunit M2B
MCT
MCT1
Monocarboxylate transporter 1
A15
CD231
DXS1692E
TALLA-1
HCA2
Hypercalciuria, absorptive, 2
SAC
SACI
Sacy
soluble adenylyl cyclase
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
Arterial dissection-lentiginosis syndrome
SEN54
SEN54L
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lymphedema-distichiasis syndrome
Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome
Gli-similar 2
NPHP7
nephrocystin-7
AD4BP
ELP
FTZ1
SF-1
SF1
hSF-1
steroidogenic factor 1
nuclear receptor subfamily 5 group A member 1
JH8
jerky
Cool-2
Cool2
KIAA0006
PAK-interacting exchange factor, alpha
Rac/Cdc42 guanine exchange factor (GEF) 6
aPix
alpha-PIX
alphaPIX
rho guanine nucleotide exchange factor 6
αPix
Rac/Cdc42 guanine nucleotide exchange factor 6
HFZ20
EIEE9
KIAA1313
40S ribosomal protein S14
EMTB
S14
emetine resistance
uS11
AITD3
TGN
YRRM1
YRRM2
RNA binding motif protein Y-linked family 1 member A1
LCA14
phosphatidylcholine--retinol O-acyltransferase
CT154
DM domain expressed in testis 1
doublesex and mab-3 related transcription factor 1
SSV
becaplermin
oncogene SIS
platelet derived growth factor subunit B
ASPL
TUG
Tether containing UBX domain for GLUT4
UBX domain protein 9
UBXD9
UBXN9
ASPSCR1 tether for SLC2A4, UBX domain containing
CAIN
CAN
CAN protein, putative oncogene
D9S46E
nuclear pore complex protein Nup214
D6S231E
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990.
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Spondyloepimetaphyseal dysplasia, Bieganski type
SEMDAD
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
N-acetylneuraminic acid-9-phosphate synthase deficiency
SEMD, Geneviève type
SEMDG
Spondyloepimetaphyseal dysplasia Camera-Genevieve type
Spondyloepimetaphyseal dysplasia, Geneviève type
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
OBSOLETE: Congenital NCL
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Neuronal ceroid lipofuscinosis
OBSOLETE: Congenital neuronal ceroid lipofuscinosis
OBSOLETE: Jansky-Bielschowsky disease
OBSOLETE: LINCL
OBSOLETE: Late infantile NCL
OBSOLETE: Late infantile neuronal ceroid lipofuscinosis
Distomiasis
Fluke infection
A group of rare parasitic diseases characterized by infection with flukes with oral and ventral suckers, comprising Clonorchiasis (infection with liver flukes), Fasciolopsiasis (infection with intestinal flukes), and Paragonimiasis (infection with lung flukes). Signs and symptoms depend on the affected organ and are of variable severity. Some patients may be asymptomatic.
- BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).
X-linked spondylometaphyseal dysplasia
A rare spondylometaphyseal dysplasia characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. There have been no further description in the literature since 1977.
Spondylometaphyseal dysplasia, Golden type
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Fatal mitochondrial disease due to COXPD3
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
Bailey-Bloch congenital myopathy
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
STAC3-related congenital myopathy
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.
Hereditary cryohydrocytosis with reduced stomatin
Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
Hereditary North American Indian childhood cirrhosis
11-beta-hydroxysteroid dehydrogenase deficiency type 1
A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.
Hyperandrogenism due to cortisone reductase deficiency
SIDDT
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Sudden infant death-dysgenesis of the testes syndrome
MAT I/III deficiency
Mudd's disease
A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.
Methionine adenosyltransferase I/III deficiency
Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.
Congenital enterokinase deficiency
Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
Congenital enteropathy due to enteropeptidase deficiency
A rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.
Worldwide AND has_cases/families_value : 44.0 (Case(s))
Seborrhea-like dermatitis with psoriasiform elements
Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rare mitochondrial non-syndromic sensorineural deafness
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
Worldwide AND has_cases/families_value : 19.0 (Family(ies))
Hereditary persistence of alpha-fetoprotein
DECF
Dysplasia epiphysealis capitis femoris
Meyer dysplasia
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.
Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
Familial scaphocephaly syndrome, McGillivray type
Autosomal isolated thrombocytopenia with normal platelets size
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
Generalized basaloid follicular hamartoma syndrome
Rare ASD
Rare PDD
Rare autism spectrum disorder
Dementia infantilis
Heller syndrome
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.
Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Diffuse malignant peritoneal mesothelioma
Primary malignant peritoneal mesothelioma
Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.
France AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000
Benign multicystic peritoneal mesothelioma
Multicystic mesothelioma
Multilocular peritoneal inclusion cyst
Peritoneal cyctic mesothelioma
Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.
EOPPC
Extra-ovarian primary peritoneal carcinoma
PPC
Primary peritoneal serous carcinoma
Serous surface papillary carcinoma
Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.
A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
8p11 myeloproliferative syndrome
Stem cell leukemia/lymphoma
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
HES
Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.
United States AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
United States AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000
RAEB-t
A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.
Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Refractory anemia with excess blasts in transformation
Composite Hodgkin and non-Hodgkin lymphoma
A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentation and treatment are determined by the more aggressive component.
Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Intellectual disability, Kahrizi type
Intellectual disability-cataract-coloboma-kyphosis syndrome
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.
A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.
Belgium AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 1.5 AND has_lifetime_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000
Pili annulati
A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.
Cernunnos XLFD
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
NHEJ1 deficiency
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.
Combined immunodeficiency due to CD3gamma deficiency
Familial CD8 deficiency
A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Immune dysfunction due to T-cell inactivation due to calcium entry defect
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.
Combined immunodeficiency due to CRAC channel dysfunction
Alymphoid cystic thymic dysgenesis
Nude/SCID
Nude/severe combined immunodeficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
T-B+NK+ SCID due to FOXN1 deficiency
Winged helix deficiency
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.
T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency
Interleukin-2 receptor alpha chain deficiency
A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.
Good syndrome
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
Worldwide AND has_cases/families_value : 241.0 (Case(s))
A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.
Transient hypogammaglobulinemia of infancy
Neutrophil-specific granule deficiency
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.
Recurrent infections due to specific granule deficiency
Immunodeficiency due to C1, C4, or C2 component complement deficiency
Immunodeficiency due to an early component of complement deficiency
A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to C5 to C9 component complement deficiency
Terminal complement pathway deficiency
Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.
Immunodeficiency due to a late component of complement deficiency
T-B+NK+ SCID due to IL-7Ralpha deficiency
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.
Chile AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : <1 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000
T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+NK+ SCID due to CD45 deficiency
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.
T-B+NK+ severe combined immunodeficiency due to CD45 deficiency
T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency
A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.
T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency
AR-CNM
A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.
Autosomal recessive centronuclear myopathy
AD-CNM
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.
Autosomal dominant centronuclear myopathy
Mosaic trisomy chromosome 1
Trisomy 1 mosaicism
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Immunodeficiency syndrome with autoimmunity
Immune dysregulation disease with immunodeficiency
NADH:ubiquinone oxidoreductase complex assembly factor 5
lncREST
long non-coding RNA REplication STress
NADH:ubiquinone oxidoreductase complex assembly factor 6
CFAP111
COMT2
LRTOMT1
LRTOMT2
leucine rich transmembrane and O-methyltransferase domain containing
SEN34
SEN34L
MGC2776
SEN2
SEN2L
MC5DN2
mitochondrial complex V deficiency, nuclear type 1
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
OBSOLETE: AR-HIES
OBSOLETE: Autosomal recessive HIES
OBSOLETE: Hyperimmunoglobulin E syndrome type 2
OBSOLETE: Non-skeletal hyper-IgE syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
OBSOLETE: Autosomal recessive hyper-IgE syndrome
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).
Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.
Recurrent Neisseria infections due to factor D deficiency
Non-distal trisomy 10q
Non-telomeric trisomy 10q
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
NON RARE IN EUROPE: Idiopathic central precocious puberty
NON RARE IN EUROPE: Secondary central precocious puberty
Severe congenital F9 deficiency
Severe congenital factor IX deficiency
A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.
Europe AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000
Moderate congenital F9 deficiency
Moderate congenital factor IX deficiency
A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.
Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000
Mild congenital F9 deficiency
Mild congenital factor IX deficiency
A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.
Mosaic trisomy chromosome 12
Trisomy 12 mosaicism
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.
Severe congenital F8 deficiency
Severe congenital factor VIII deficiency
A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.
Europe AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.
Mild congenital F8 deficiency
Mild congenital factor VIII deficiency
A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.
Congenital vitamin K-dependent coagulation factors deficiency
VGLUT3
vesicular glutamate transporter 3
Duplication 12p
A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.
Worldwide AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
GRX5
CILD9
DIC2
dynein intermediate chain 2
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
SPAM
EGF-like photoreceptor maintenance factor
KIAA0188
phosphatidate phosphatase LPIN1
NTKL-BP1
RAB6-interacting golgin
gerodermia osteodysplastica
EPM1B
REST/NRSF interacting LIM domain protein
RILP
DERP13
ORF19
Russel-Silver syndrome candidate
dermal papilla derived protein 13
succinate-hydroxymethylglutarate CoA-transferase
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
Fatal infantile lactic acidosis with methylmalonic aciduria
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.
Non-distal trisomy 13q
Non-telomeric trisomy 13q
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
Mosaic trisomy chromosome 14
Trisomy 14 mosaicism
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.
Telomeric duplication 14q
Trisomy 14qter
Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.
Mosaic trisomy chromosome 15
Trisomy 15 mosaicism
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
Distal trisomy 15q
Telomeric duplication 15q
Trisomy 15qter
Mosaic trisomy chromosome 16
Trisomy 16 mosaicism
Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
Worldwide AND has_cases/families_value : 226.0 (Case(s))
PSC
Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
Canada AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.77 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 7.84 AND has_point_prevalence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_point_prevalence_average_value : 8.5 AND has_point_prevalence_range : 1-9 / 100 000
Singapore AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 1.22 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 16.2 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 8.28 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 0.77 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 8.81 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 8.1 AND has_point_prevalence_range : 1-9 / 100 000
UGRP
Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
glucose-6-phosphatase catalytic subunit 3
Woodhouse-Sakati syndrome
GLUTX
Glut9
URATv1
urate voltage-driven efflux transporter 1
eS7
PPP1R135
protein phosphatase 1, regulatory subunit 135
uL18
60S ribosomal protein L11
L11
uL5
GIG33
L35A
eL33
cblD
CILD10
KTU
kintoun
pf13
HIF prolyl hydroxylase 2
HIFPH2
PHD2
SM-20
ZMYND6
CMT2C
OTRPC4
TRP12
VR-OAC
VRL-2
VROAC
osmosensitive transient receptor potential channel 4
transient receptor potential cation channel subfamily V member 4
KIAA1119
Mosaic trisomy chromosome 17
Trisomy 17 mosaicism
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic anorectal malformation
OBSOLETE: High isolated anorectal malformation
OBSOLETE: Intermediate isolated anorectal malformation
OBSOLETE: Low isolated anorectal malformation
A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.
Potocki-Lupski syndrome
Trisomy 17p11.2
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Mild nemaline myopathy
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NMs) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
FLNC-associated myofibrillar myopathy
Filamin C-related filaminopathy
MFM5
Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
Duplication 18p
Duplication of the short arm of chromosome 18
Trisomy of the short arm of chromosome 18
A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.
Distal trisomy 18q
Telomeric duplication 18q
Trisomy 18qter
A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.
Worldwide AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000
SPG34
X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.
SPG37
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.
Autosomal dominant spastic paraplegia type 37
SPG38
A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.
Autosomal dominant spastic paraplegia type 38
SPG32
Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.
Autosomal recessive spastic paraplegia type 32
SPG35
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
Autosomal recessive spastic paraplegia type 35
AF-4
AF4
ALL1-fused gene from chromosome 4
FEL
E2A
E2A immunoglobulin enhancer-binding factor E12/E47
E47
ITF1
VDIR
VDR interacting repressor
bHLHb21
immunoglobulin transcription factor 1
kappa-E2-binding factor
p75
transcription factor E2-alpha
MCPH7
PEBP2B
CDR
ETO
MTG8
ZMYND2
RUNX1 partner transcriptional co-repressor 1
A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).
NON RARE IN EUROPE: Periventricular leukomalacia
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.
Erythrocyte lactate transporter defect
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
Metabolic myopathy due to lactate transporter defect
Pallidopyramidal syndrome
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).
Distal trisomy 19q
Telomeric duplication 19q
Trisomy 19qter
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.
Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Male infertility due to round-headed spermatozoa
Round-headed sperm syndrome
Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.
Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency
A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.
Hereditary mucosal leukokeratosis
White sponge nevus of Cannon
White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Enamel-renal syndrome
Amelogenesis imperfecta-gingival hyperplasia syndrome
Berant syndrome
Capra-DeMarco syndrome
Familial scaphocephaly-radioulnar synostosis syndrome
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
A rare syndromic ectopia lentis characterized by progressive visual loss leading to blindness, spinal deformities such as scoliosis or kyphoscoliosis, and arachnodactyly (abnormally long, slender fingers and toes). Visual impairment often begins in childhood due to lens luxation and retinal complications. Male patients typically present with the full phenotype, whereas females may exhibit only blindness. No other associated skeletal, skin, joint, or visceral abnormalities have been reported.
Blindness-scoliosis-arachnodactyly syndrome
PHARC syndrome
Peripheral neuropathy, Fiskerstrand type
Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
A rare neurologic syndrome with peripheral neuropathy characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly progressive and often demyelinating sensorimotor neuropathy where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is progressive, usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. Ataxia may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. Seizures and mild intellectual disability is reported in few patients.
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using SRD5A3-CDG
OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome
SPG42
A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
Autosomal dominant spastic paraplegia type 42
SEMD, aggrecan type
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Spondyloepimetaphyseal dysplasia, aggrecan type
Autosomal dominant PHA1
Autosomal dominant pseudohypoaldosteronism type 1
Renal PHA1
A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.
United Kingdom AND has_birth_prevalence_average_value : 1.51 AND has_birth_prevalence_range : 1-9 / 100 000
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.
United Kingdom AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000
Generalized pseudohypoaldosteronism type 1
Cap disease
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.
Myopathy with hexagonally cross-linked tubular arrays
Austria AND has_annual_incidence_average_value : 0.577 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.539 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.158 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.341 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.185 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 5.2 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 24.0 AND has_point_prevalence_range : 1-5 / 10 000
Germany AND has_annual_incidence_average_value : 0.326 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.767 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.647 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 1.163 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 0.097 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.323 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 1.57 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 0.441 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.431 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.355 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.273 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.225 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.594 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.231 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.197 AND has_annual_incidence_range : 1-9 / 1 000 000
B-cell NHL
Europe AND has_annual_incidence_average_value : 17.45 AND has_annual_incidence_range : 1-5 / 10 000
T-cell NHL
Europe AND has_annual_incidence_average_value : 0.99 AND has_annual_incidence_range : 1-9 / 1 000 000
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Progressive familial intrahepatic cholestasis
Mosaic trisomy chromosome 2
Trisomy 2 mosaicism
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
Mosaic trisomy chromosome 20
Trisomy 20 mosaicism
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
22q11.2 microduplication syndrome
Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2
A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Congenital myopathy
OBSOLETE: Congenital myopathy with protein accumulation
OBSOLETE: Congenital myopathy with central nuclei
OBSOLETE: Congenital myopathy with fiber size variation
OBSOLETE: Congenital myopathy with vacuoles
Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.
Austria AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_range : <1 / 1 000 000
Denmark AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_range : <1 / 1 000 000
Sweden AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_range : <1 / 1 000 000
United States AND has_point_prevalence_range : <1 / 1 000 000
ENT3
hENT3
AIGF
androgen-induced growth factor
EF-TS
EF-Tsmt
Ts translation elongation factor, mitochondrial
CIRHIN
KIAA1988
NAIC
TEX292
UTP4, small subunit (SSU) processome component, homolog (yeast)
6-phosphogluconolactonase
GDH/6PGL endoplasmic bifunctional protein
H6PDH
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
SDR26C1
short chain dehydrogenase/reductase family 26C, member 1
MAT
MAT-I/III
MATA1
S-adenosylmethionine synthase isoform type-1
S-adenosylmethionine synthetase
SAMS
SAMS1
methionine adenosyltransferase I/III
ENTK
enteropeptidase
proenterokinase
Zfp750
FETA
alpha-fetoprotein
fetoglobulin
CYC
PAT2
TRAMD1
tramdorin
IMINO
SIT1
XT3
Xtrp3
sodium-dependent imino acid transporter 1
Xtrp2
WTX
Wilms Tumor on the X
adenomatous polyposis coli membrane recruitment 1
ADANE
NUP358
nucleoporin 358
TKT
discoidin domain receptor tyrosine kinase 2
KIAA1381
cblF
Duplication 4p
Duplication of the short arm of chromosome 4
Trisomy of the short arm of chromosome 4
Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.
Worldwide AND has_cases/families_value : 85.0 (Case(s))
OBSOLETE: Trisomy 4q
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Partial duplication of the long arm of chromosome 4
MDSC
SMCD
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Metaphyseal chondrodysplasia, Schmid type
Duplication 5p
Duplication of the short arm of chromosome 5
Trisomy of the short arm of chromosome 5
A rare chromosomal anomaly caused by the duplication of a segment of variable size of the short arm of chromosome 5, characterized by macrocephaly, intellectual disability and distinctive facial features. Other common features include talipes equinovarus, cerebral malformations and hypotonia. Congenital heart defects can sometimes occur.
Distal trisomy 6p
Telomeric duplication 6p
Trisomy 6pter
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
Congenital hypogonadotropic hypogonadism
Mosaic trisomy chromosome 7
Trisomy 7 mosaicism
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.
Finland AND has_birth_prevalence_average_value : 4.34 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_average_value : 150.0 AND has_point_prevalence_range : >1 / 1000
Duplication 8q
A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.
Dipygus
Split notochord syndrome
Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
Leg duplication-mirror foot syndrome
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.
Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.
Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
Non-rhizomelic chondrodysplasia punctata
MECP2 duplication syndrome
X-linked intellectual disability syndrome, Lubs type
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.
Australia AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Australia AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000
RP46
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.
Specific population AND has_birth_prevalence_average_value : 18.5 AND has_birth_prevalence_range : 1-5 / 10 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Mesomelic and rhizo-mesomelic dysplasia
OBSOLETE: Dyschondrosteosis-nephritis syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
Worldwide AND has_cases/families_value : 51.0 (Case(s))
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant non-syndromic sensorineural deafness type DFNA
Familial progressive vestibulocochlear dysfunction
Rudd-Klimek syndrome
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.
RCDP
A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.
Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
A rare syndrome with 46,XY difference of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.
XY type gonadal dysgenesis-associated anomalies syndrome
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Caudal regression syndrome
DKC
Zinsser-Engman-Cole syndrome
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
Temtamy-Shalash syndrome
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
Worldwide AND has_cases/families_value : 56.0 (Case(s))
Seaver-Cassidy syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.
Dysmorphism-cleft palate-loose skin syndrome
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.
Bleeding disorder in hemophilia A carriers
A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.
Bleeding disorder in hemophilia B carriers
Notochordal sarcoma
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
United States AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
Dysmorphism-multiple structural anomalies syndrome
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
CDI
Neurogenic diabetes insipidus
Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).
CILD12
CILD11
RSPH6B
AP-1 complex subunit sigma-1A
AP19
HA1 19 kDa subunit
SIGMA1A
clathrin assembly protein complex 1 sigma-1A small chain
clathrin coat assembly protein AP19
clathrin-associated/assembly/adaptor protein, small 1 (19kD)
golgi adaptor HA1/AP1 adaptin sigma-1A subunit
sigma1A subunit of AP-1 clathrin adaptor complex
sigma1A-adaptin
adaptor related protein complex 1 subunit sigma 1
FAAH
Fatty acid alpha-hydroxylase
fatty acid hydroxylase
Moderate multiminicore disease with hand involvement
Antenatal multiminicore disease with arthrogryposis multiplex congenita
A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.
Monosomy 8q22.1
Nablus mask-like facial syndrome
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
RAK
A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
Worldwide AND has_cases/families_value : 130.0 (Case(s))
Isolated SCCH
Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.
Isolated sternocostoclavicular hyperostosis
Embryonal sarcoma of the liver
UES
Undifferentiated sarcoma of the liver
Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.
Undifferentiated embryonal sarcoma of the liver
Australia AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 65.0 AND has_annual_incidence_range : 6-9 / 10 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare hemolytic anemia
AIED
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.
Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.
AEXS
Familial hyperestrogenism
Hereditary prepubertal gynecomastia
A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.
MCOPS5
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
Osteosclerosis-developmental delay-craniosynostosis syndrome
Congenital convex foot
Congenital convex pes valgus
Congenital rocker-bottom foot
Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.
Osteopetrosis-hypogammaglobulinemia syndrome
A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Richieri-Costa-Colletto syndrome
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Distal anterior compartment myopathy
A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.
Distal myopathy with anterior tibial onset
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
Worldwide AND has_cases/families_value : 7.0 (Family(ies))
X-linked myopathy with postural muscle atrophy
Edström Myopathy
HIBM-ERF
HMERF
Hereditary inclusion body myopathy with early respiratory failure
MFM-titinopathy
Myofibrillar myopathy with early respiratory failure
Myofibrillar myopathy-titinopathy
A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.
Hereditary myopathy with early respiratory failure
Autosomal dominant non-syndromic intellectual disability
Cutaneous infectious botulism
Cutaneous toxin-mediated botulism
Inoculation botulism
Skin infectious botulism
Skin toxin-mediated botulism
Wound botulism is a rare infectious form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.
Infant intestinal botulism
Infant intestinal toxemia botulism
Infant intestinal toxin-mediated botulism
Infantile botulism
A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.
Argentina AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000
Intestinal colonization botulism
Intestinal toxemia botulism
Intestinal toxin-mediated botulism
A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).
Adult intestinal colonization botulism
Adult intestinal toxemia botulism
Adult intestinal toxin-mediated botulism
Infant-like botulism
A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.
NON RARE IN EUROPE: Myopic maculopathy
NON RARE IN EUROPE: Myopic macular degeneration
Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Brain calcification, Rajab type
Developmental delay-brain calcification-interstitial lung disease syndrome
Interstitial lung disease-brain calcification syndrome, Rajab type
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
Interstitial lung disease-brain calcification syndrome
Parkinsonism with alveolar hypoventilation and mental depression
A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
Worldwide AND has_cases/families_value : 53.0 (Case(s))
Mycosis fungoides-associated follicular mucinosis
A variant of mycosis fungoides (MF) characterized by the presence of folliculotropic infiltrates, often with sparing of the epidermis and preferential involvement of the head and neck region. Most cases show mucinous degeneration of the hair follicles (follicular mucinosis) and are traditionally designated as MF-associated follicular mucinosis.
Pagetoid reticulosis, Woringer-Kolopp type
A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.
A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Berti lymphoma
Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.
Primary cutaneous gamma/delta-positive T-cell lymphoma
PCMZL
A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.
Primary cutaneous marginal zone B-cell lymphoma
PCFCL
A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.
Primary cutaneous follicle center lymphoma
PCDLBCL,LT
A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.
Primary cutaneous diffuse large B-cell lymphoma, leg type
Indolent primary cutaneous T-cell lymphoma
Aggressive primary cutaneous T-cell lymphoma
Aggressive primary cutaneous B-cell lymphoma
Indolent primary cutaneous B-cell lymphoma
A group of cutaneous T-cell lymphomas characterized by the indolent, slow progression of patches, plaques, and tumors. There are four known variants: classic mycosis fungoides, folliculotropic mycosis fungoides, localized pagetoid reticulosis and granulomatous slack skin. Classic MF is characterized by slow progression from patches on sun-protracted areas to more infiltrated plaques and tumors; folliculotropic MF preferentially involves the head and neck region; localized pagetoid reticulosis shows localized patches or plaques, usually involving one extremity; granulomatous slack skin is extremely rare and characterized by the presence of circumscribed areas of pendulous lax skin.
Europe AND has_annual_incidence_average_value : 0.59 AND has_annual_incidence_range : 1-9 / 1 000 000
Opitz-Caltabiano syndrome
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
KIAA1592
SLC70A4
cyclin and CBS domain divalent metal cation transport mediator 4
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.
HAI-2
HAI2
HGF activator inhibitor 2
Kop
Kunitz domain containing protein overexpressed in pancreatic cancer
hepatocyte growth factor activator inhibitor-2
placental bikunin
serine peptidase inhibitor, Kunitz type 2
KIND3
MIG-2
MIG2B
UNC-112 related protein 2
UNC112C
URP2
kindlin-3
LncZBTB39
NK3
NKB
ZNEUROK1
preprotachykinin-B
NK3 receptor
NK3R
NKR
TAC3R
neurokinin B receptor
neurokinin beta receptor
neuromedin-K receptor
HSD3
OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome
OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome
Immunologic neutropenia
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.
United States AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.
Primary immunodeficiency due to a defect in adaptive immunity
Gollop syndrome
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHST3-related skeletal dysplasia
Richieri-Costa-Gorlin syndrome
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.
JBTS8
KIAA0976
Lmnt1
NetG1
Netrin-G1
NetrinG1
laminet-1
netrin G1f
CAP3
HAI
MT-SP1
SNC19
TMPRSS14
channelactivating protein 3
channelâactivating protein 3
epithin
matriptase
ST14 transmembrane serine protease matriptase
KLA
alpha-klotho
beta-glucuronidase
Clabp TACO
HCORO1
coronin-1
p57
Obesity due to congenital leptin resistance
A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.
Obesity due to leptin receptor gene deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Acrodysostosis
Autosomal dominant spondylocostal dysplasia
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Autosomal dominant spondylocostal dysostosis
Autosomal dominant osteosclerosis, Stanescu type
Dysostosis, Stanescu type
Stanescu osteosclerosis
A rare primary bone dysplasia with increased bone density characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age. There have been no further descriptions in the literature since 1995.
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Billard-Toutain-Maheut syndrome
FOXP2-associated dysphasia
Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.
Classic RTA
Familial distal primary acidosis
Renal tubular acidosis type 1
dRTA
A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.
CHM
Tapetochoroidal dystrophy
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
OBSOLETE: Bazopoulou-Kyrkanidou syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary bone dysplasia with decreased bone density
OBSOLETE: Craniofaciocervical osteoglyphic dysplasia
Incomplete bilateral aplasia of the Müllerian ducts
Partial bilateral aplasia of the Müllerian ducts
Unicornuate uterus
Unilateral aplasia of the Müllerian ducts
Complete unilateral Müllerian aplasia
Complete unilateral aplasia of the Müllerian ducts
Unicornuate uterus without rudimentary horn
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.
Incomplete unilateral Müllerian aplasia
Incomplete unilateral aplasia of the Müllerian ducts
Unicornuate uterus with rudimentary horn
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.
Bicervical bicornuate uterus
A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.
A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.
Bicervical bicornuate uterus and blind hemivagina
Bicervical bicornuate uterus with patent cervix and vagina
A rare non-syndromic uterine malformation characterized by a uterus with two uterine horns and only one cervix, resulting from a failure in the fusion of the two Müllerian structures. Depending on the degree of the fusion deficiency, the malformation may be complete with the cavities separated up to the internal orifice of the cervix and not linked, or partial when there is some linkage. Patients may present recurrent pregnancy loss or preterm labor.
NON RARE IN EUROPE: Uterus arcuatus
NON RARE IN EUROPE: Uterus cordiformis
Total septate uterus
Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.
Subtotal septate uterus
Uterus subseptus
Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.
A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.
A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.
A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.
A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum.
A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.
A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.
Familial juvenile gigantomastia
Virginal breast hypertrophy
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.
Familial juvenile hypertrophy of the breast
Accessory breasts
Polymastia
A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.
Isolated congenital amastia
A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.
Isolated congenital breast hypoplasia/aplasia
Rare non-malformative gynecologic or obstetric disease
Diaphyseal dysplasia-anemia syndrome
Ghosal syndrome
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Rare non-malformative uterovaginal or vulvovaginal disease
Anomaly of puberty or/and menstrual cycle
NSP-like protein 1
NSP2
NSPL1
Neuroendocrine-specific protein-like 1
spastic paraplegia 19 (autosomal dominant)
AT-1
Acetyl-CoA transporter 1
A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.
spastic paraplegia 29 (autosomal dominant)
A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage.
A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction.
spastic paraplegia 37 (autosomal dominant)
Cancer of fallopian tubes
Malignant tubal tumor
Tubal cancer
Denmark AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000
spastic paraplegia 38 (autosomal dominant, Silver syndrome)
Vaginal malignant epithelial tumor
A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina.
Worldwide AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000
Rare breast cancer
A rare fibroepithelial tumor of the breast characterized by a painless, circumscribed, firm mass potentially arising in any part of the breast, histologically showing a prominent intracanalicular growth pattern with leaf-like stromal fronds, capped by luminal epithelial and myoepithelial cell layers, accompanied by stromal hypercellularity. The tumor may be benign, borderline, or malignant.
Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.
spastic paraplegia 24 (autosomal recessive)
KIAA1705
PA-PLA1
PAPLA1
iPLA1a
iPLA1alpha
iPLA1α
intracellular phospholipase A1 alpha
phosphatidic acid-preferring phospholipase A1
Mammary Paget disease
Paget disease of the breast
Paget's disease of the nipple
Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.
Austria AND has_annual_incidence_average_value : 0.179 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.433 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.235 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.192 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.287 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.434 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.682 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.487 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.421 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.215 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.345 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.335 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.709 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.096 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.209 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.457 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.415 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.394 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.637 AND has_annual_incidence_range : 1-9 / 1 000 000
NON RARE IN EUROPE: Benign ductal tumor of breast
spastic paraplegia 14 (autosomal recessive)
Rivera-Perez-Salas syndrome
Thoracolimb dysplasia, Rivera type
A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
spastic paraplegia 23 (autosomal recessive)
Rare non-malformative uterine adnexal disease
spastic paraplegia 25 (autosomal recessive, with disc herniation)
spastic paraplegia 27 (autosomal recessive)
spastic paraplegia 32 (autosomal recessive)
spastic paraplegia 16 (complicated, X-linked recessive)
spastic paraplegia 34 (autosomal dominant)
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dyssegmental dysplasia, Rolland-Desbuquois type
Dyssegmental dysplasia-glaucoma syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
Malformative syndrome with dentinogenesis imperfecta
Non-syndromic diaphragmatic or thoracic malformation
Syndromic diaphragmatic or thoracic malformation
Christianson-Fourie syndrome
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Rare pancreatic tumor
Halal-Setton-Wang syndrome
Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
Hidrotic ectodermal dysplasia, Halal type
Christ-Siemens-Touraine syndrome
Denmark AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000
X-linked hypohidrotic ectodermal dysplasia
AD-HED
Autosomal dominant hypohidrotic ectodermal dysplasia
A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.
FBX7
Fbx
PARK15
T-box brain2
TBR2
SBP2
Sec insertion sequence-binding protein 2
Selenocysteine insertion sequence-binding protein 2
NYD-SP12
SIATGM3S
ST3GalV
ganglioside GM3 synthase
lactosylceramide alpha-2,3-sialyltransferase
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
CK4
cytokeratin 4
keratin, type II cytoskeletal 4
CK13
K13
MGC3781
cytokeratin 13
keratin, type I cytoskeletal 13
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Rare insulin-dependent diabetes mellitus
Rare insulin-independent diabetes mellitus
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
GHIS
Short stature due to a defect in growth hormone receptor or post-receptor pathway
Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
Rare primary aldosteronism
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare hyperlipidemia
OBSOLETE: Rare major hypertriglyceridemia
Rare disorder with primary hypogonadism
Rare disorder with hypergonadotropic hypogonadism
Berlin syndrome
Ectodermal dysplasia, Berlin type
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.
Ectodermal dysplasia, trichoodontoonychial type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple metaphyseal dysplasia
OBSOLETE: Epimetaphyseal skeletal dysplasia
GLOD2
MCE
MMCE
glyoxalase domain containing 2
methylmalonyl CoA isomerase
Chromoblastomycosis
Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.
Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000
Rare thrombotic disease of hematologic origin
Rare neuroinflammatory or neuroimmunological disease
Glioma
Croatia AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 26.0 AND has_point_prevalence_range : 1-5 / 10 000
Greece AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 5.26 AND has_annual_incidence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare syndromic intellectual disability
OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability
OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability
PAH
Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).
Czech Republic AND has_annual_incidence_average_value : 1.07 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_point_prevalence_average_value : 2.24 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 0.37 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_point_prevalence_average_value : 1.55 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 0.72 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 1.09 AND has_point_prevalence_range : 1-9 / 100 000
ILD
Denmark AND has_annual_incidence_average_value : 4.1 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000
Greece AND has_annual_incidence_average_value : 4.63 AND has_annual_incidence_range : 1-9 / 100 000
Greece AND has_point_prevalence_average_value : 17.3 AND has_point_prevalence_range : 1-5 / 10 000
Spain AND has_annual_incidence_average_value : 7.6 AND has_annual_incidence_range : 1-9 / 100 000
CTD-ILD
Secondary ILD in childhood and adulthood associated with a connective tissue disease
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000
Non-syndromic urogenital tract malformation of female
Non-syndromic urogenital tract malformation of male
Non-syndromic urogenital tract malformation of male and female
A rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.
Europe AND has_annual_incidence_average_value : 3.75 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 64.0 AND has_point_prevalence_range : 6-9 / 10 000
Trevor disease
A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary bone dysplasia
OBSOLETE: Localized epiphyseal dysplasia
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
Epiphyseal dysplasia-deafness-dysmorphism syndrome
Finucane-Kurtz-Scott syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
ARHGAP2
Chimerin 1 (GTPase-activating protein, rho, 2)
RhoGAP2
chimaerin 1
n-chimerin
A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
Churg-Strauss syndrome
EGPA
Granulomatous allergic angiitis
A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations.
Australia AND has_point_prevalence_average_value : 2.23 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 1.56 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 1.13 AND has_point_prevalence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 1.78 AND has_point_prevalence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000
Peru AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
Sweden AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000
Turkey AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
United States AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
Eosinophilic granulomatosis with polyangiitis
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.
Worldwide AND has_cases/families_value : 133.0 (Case(s))
De Hauwere-Chitty syndrome
Iris dysplasia-hypertelorism-deafness syndrome
Iris dysplasia-hypertelorism-hearing loss syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Axenfeld-Rieger syndrome
Raine syndrome
A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Blastogenesis defect
Russell-Weaver-Bull syndrome
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
Polymalformative genetic syndrome with increased risk of developing cancer
Genetic ichthyosis
France AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000
Genetic pigmentation anomaly of the skin
Genetic skin photosensitivity
Photogenodermatosis
Genetic immune deficiency with skin involvement
Genetic central nervous system and retinal vascular disease
Genetic central nervous system malformation
Rare genetic developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome
Genetic renal or urinary tract malformation
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Genetic respiratory or mediastinal malformation
Genetic malformation syndrome with short stature
Genetic branchial arch or oral-acral syndrome
Genetic malformation syndrome with odontal and/or periodontal component
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare genetic disorder of the ocular adnexa
OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease
Kantaputra mesomelic dysplasia
MDK
Mesomelic dysplasia, Thai type
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare refraction anomaly
OBSOLETE: Rare genetic refraction anomaly
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Pediatric-onset glaucoma of genetic origin
Rare genetic hypothalamic or pituitary disease
Rare genetic parathyroid disease and phosphocalcic metabolism disorder
SCID
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
Australia AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000
Chile AND has_birth_prevalence_average_value : 1.28 AND has_birth_prevalence_range : 1-9 / 100 000
Costa rica AND has_birth_prevalence_average_value : 3.79 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 1.65 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
Greece AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 1.72 AND has_birth_prevalence_range : 1-9 / 100 000
HIGM with susceptibility to opportunistic infections
Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.
Hyper-IgM syndrome with susceptibility to opportunistic infections
HIGM without susceptibility to opportunistic infections
Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.
Hyper-IgM syndrome without susceptibility to opportunistic infections
Europe AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 0.287 AND has_point_prevalence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 0.077 AND has_point_prevalence_range : <1 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.205 AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 0.192 AND has_point_prevalence_range : 1-9 / 1 000 000
Poland AND has_point_prevalence_average_value : 0.071 AND has_point_prevalence_range : <1 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.134 AND has_point_prevalence_range : 1-9 / 1 000 000
Turkey AND has_point_prevalence_average_value : 0.045 AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.094 AND has_point_prevalence_range : <1 / 1 000 000
OBSOLETE: CVID due to TNFR deficiency
OBSOLETE: Common variable immunodeficiency due to TNFR deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency
Hermansky-Pudlak syndrome with neutropenia
A form of Hermansky-Pudlak syndrome (HPS) characterized by oculocutaneous albinism, bleeding diathesis, neutropenia, and in some cases, pulmonary fibrosis, neurologic involvement, or hearing loss.
Hermansky-Pudlak syndrome due to AP-3 deficiency
Congenital functional defect of phagocyte
Constitutional functional phagocyte defect
Rosenberg-Lohr syndrome
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
Metaphyseal chondrodysplasia, Rosenberg type
Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Infantile LAD-like disease due to RAC2 deficiency
Genetic susceptibility to infections due to particular pathogens
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Transient predisposition to invasive pyogenic bacterial infection
OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Primary immunodeficiency
OBSOLETE: Other complex syndrome of primary immunodeficiency
Rare genetic gynecological and obstetrical diseases
Rare genetic syndromic intellectual disability
Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cartilage-hair hypoplasia
Metaphyseal dysplasia without hypotrichosis
FKHL20
CWH41
DER7
GCS1
glucosidase I
processing A-glucosidase I
C6orf37
PBLT
CRP1
KIAA0605
Urban-Schosser-Spohn syndrome
A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.
complex I B14.7 subunit
NADH:ubiquinone oxidoreductase subunit A11
HIF-1 alpha-like factor
HIF2A
HLF
MOP2
PASD2
bHLHe73
TRNL2
mitochondrially encoded tRNA-Leu (CUN) 2
KIAA0791
SHFM6
WNT-12
DHC1b
DHC2
DYH1B
hdhc11
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
OBSOLETE: Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Desbuquois syndrome
OBSOLETE: Bone dysplasia, lethal Holmgren type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary bone dysplasia with disorganized development of skeletal components
A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
Austria AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000
Belgium AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Croatia AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000
Malta AND has_birth_prevalence_average_value : 24.1 AND has_birth_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic renal or urinary tract malformation
OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome
Congenital pulmonary venolobar syndrome
Epibronchial right pulmonary vein syndrome
Halasz syndrome
Hypogenetic lung syndrome
A rare congenital malformation characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt, and varying degrees of right lung hypoplasia, along with a systemic arterial supply to the right lung.
Selig-Benacerraf-Greene syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial caudal dysgenesis
Renal dysplasia-megalocystis-sirenomelia syndrome
MCDK
Multicystic renal dysplasia
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.
Worldwide AND has_birth_prevalence_average_value : 23.26 AND has_birth_prevalence_range : 1-5 / 10 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Norrie disease
SPENCD
Spondyloenchondromatosis
Spondylometaphyseal dysplasia with enchondromatous changes
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, intellectual disability and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus hemolytic anemia and thyroiditis.
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.
Spondyloperipheral dysplasia-short ulna syndrome
Gurrieri-Sammito-Bellussi syndrome
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints.
Skeletal dysplasia-epilepsy-short stature syndrome
Hanot syndrome
PBC
Primary biliary cirrhosis
A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.
Australia AND has_point_prevalence_average_value : 5.1 AND has_point_prevalence_range : 1-9 / 100 000
Brunei Darussalam AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
Brunei Darussalam AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000
Canada AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000
Canada AND has_point_prevalence_average_value : 22.7 AND has_point_prevalence_range : 1-5 / 10 000
China AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000
Denmark AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000
Denmark AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 2.57 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000
France AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000
Greece AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000
Greece AND has_point_prevalence_average_value : 36.5 AND has_point_prevalence_range : 1-5 / 10 000
Iceland AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000
Iceland AND has_point_prevalence_average_value : 38.3 AND has_point_prevalence_range : 1-5 / 10 000
Israel AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_point_prevalence_average_value : 13.2 AND has_point_prevalence_range : 1-5 / 10 000
Spain AND has_point_prevalence_average_value : 19.5 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_annual_incidence_average_value : 2.3 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 4.5 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 40.2 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 21.05 AND has_point_prevalence_range : 1-5 / 10 000
TD1
Thanatophoric dwarfism type 1
A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.
Thoracic dysplasia-hydrocephalus syndrome
NON RARE IN EUROPE: Femoral trochlear groove insufficiency
NON RARE IN EUROPE: Hypoplasia of the femoral trochlea
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using FLNA-related X-linked myxomatous valvular dysplasia
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
Dyssegmental dysplasia, Silverman-Handmaker type
A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
Egypt AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 11.7 AND has_point_prevalence_range : 1-5 / 10 000
Iceland AND has_point_prevalence_average_value : 31.2 AND has_point_prevalence_range : 1-5 / 10 000
Japan AND has_point_prevalence_average_value : 13.7 AND has_point_prevalence_range : 1-5 / 10 000
Serbia AND has_point_prevalence_average_value : 11.2 AND has_point_prevalence_range : 1-5 / 10 000
Thailand AND has_point_prevalence_average_value : 14.3 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 29.5 AND has_point_prevalence_range : 1-5 / 10 000
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.
Hereditary bullous dystrophy, macular type
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).
Cone dystrophy
A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
Cone rod dystrophy-amelogenesis imperfecta syndrome
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
Palestinian Territory, occupied AND has_point_prevalence_average_value : 8.3 AND has_point_prevalence_range : 1-9 / 100 000
Bassoe syndrome
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Visceral myopathy-familial external ophthalmoplegia syndrome
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.
Oculogastrointestinal muscular dystrophy
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Laminin subunit alpha 2-related congenital muscular dystrophy
Muscular dystrophy-white matter spongiosis syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2H
LGMD due to TRIM32 deficiency
LGMD type 2H
LGMD2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Limb-girdle muscular dystrophy type 2H
Sarcotubular myopathy
TRIM32-related LGMD R8
A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
TRIM32-related limb-girdle muscular dystrophy R8
MSBD syndrome
Mixed sclerosing bone dystrophy
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
Capillary hyperpermeability syndrome
Capillary leak syndrome
Clarkson disease
Idiopathic capillary leak syndrome
SCLS
Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.
Ebstein anomaly of the tricuspid valve
A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.
Belgium AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000
Croatia AND has_birth_prevalence_average_value : 16.5 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 18.2 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 7.8 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000
Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 27.2 AND has_birth_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000
Ukraine AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000
Ebstein malformation of the tricuspid valve
ANOTHER syndrome
HEDH syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Ectodermal dysplasia-sensorineural hearing loss syndrome
A rare ectodermal dysplasia syndrome characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. Thoracic scoliosis can also be present. There have been no further descriptions in the literature since 1970.
Ectodermal dysplasia-sensorineural deafness syndrome
Noble-Bass-Sherman syndrome
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Ectopia lentis syndrome
Familial ectopia lentis
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
EEC syndrome without cleft lip/palate
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to EEC syndrome
Ectrodactyly-ectodermal dysplasia without clefting syndrome
KIAA1938
RASA5
SYNGAP
synaptic Ras GTPase activating protein 1
ECP syndrome
Clouston syndrome
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Jancar syndrome
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
Intellectual disability-spasticity-ectrodactyly syndrome
latent transforming growth factor beta binding protein 3
KIAA0723
MGC9105
VCPDM
S2P
site-2 protease
sterol regulatory element-binding proteins intramembrane protease
membrane bound transcription factor peptidase, site 2
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.
XMEA
hsa-mir-96
SMAD8
SMAD8/9
Kir1.2
Kir4.1
potassium inwardly rectifying channel subfamily J member 10
latent transforming growth factor beta binding protein 2
Kasznica-Carlson-Coppedge syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrocardiofacial syndrome
Ectrodactyly-spina bifida-cardiopathy syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Adrenal Cushing syndrome
OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.
Europe AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
Cushing syndrome due to bilateral macronodular adrenocortical disease
OBSOLETE: PPNAD
OBSOLETE: Primary pigmented nodular adrenal dysplasia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated primary pigmented nodular adrenocortical disease
OBSOLETE: Primary pigmented nodular adrenocortical disease
A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts.
Familial isolated hypoparathyroidism due to impaired PTH secretion
Typus Edinburgensis
Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
Europe AND has_birth_prevalence_average_value : 1.11 AND has_birth_prevalence_range : 1-9 / 100 000
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.
2-hydroxyglutaric acidemia
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Congenital retinal telangiectasia
Leber miliary aneurysm
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).
United States AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
Fetal valproate syndrome
Fetal valproic acid syndrome
Valproic acid embryopathy
A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).
Belgium AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 1.02 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
Ireland AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
Reunion AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000
Switzerland AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000
Aminopterin embryopathy syndrome
Fetal aminopterin syndrome
A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
Aminopterin/methotrexate embryofetopathy
Fetal indomethacin syndrome
Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitis in preterm infants.
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000
Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).
Fetal cocaine syndrome
Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.
Fetal dihydantoin syndrome
Phenytoin embryofetopathy
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.
Vitamin K antagonist embryopathy
Warfarin embryofetopathy
Warfarin embryopathy
di Sala syndrome
Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.
ARBD
ARND
Alcohol-related birth defects
Alcohol-related neurodevelopmental disorder
FAS
FASD
Fetal alcohol spectrum disorders
Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).
Belgium AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 14.8 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 8.1 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
South Africa AND has_point_prevalence_average_value : 6800.0 AND has_point_prevalence_range : >1 / 1000
Spain AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000
Ukraine AND has_birth_prevalence_average_value : 80.8 AND has_birth_prevalence_range : 6-9 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000
DES embryofetopathy
DES syndrome
Diethylstilbestrol embryofetopathy
Distilbene embryofetopathy
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
Congenital Minamata disease
Fetal methylmercury poisoning
Intrauterine methylmercury poisoning
Prenatal methylmercury poisoning
A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.
Minoxidil antenatal exposure
Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.
CLS
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.
MMI/CMZ embryofetopathy
MMI/CMZ embryopathy
Methimazole/carbimazole embryofetopathy
Methimazole/carbimazole embryopathy
A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.
Diabetes-induced teratogenicity
A rare teratologic disease characterized by a range of congenital anomalies associated with poorly controlled maternal diabetes, frequently including abnormalities of the cardiovascular or central nervous system as well as other organ systems, such as skeletal and craniofacial systems. In addition to embryopathy, uncontrolled maternal diabetes can lead to fetal/neonatal complications (including metabolic, respiratory or delivery complications).
Hand and foot deformity-flat facies syndrome
A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.
Congenital lobar hyperinflation
Infantile lobar hyperinflation
A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.
Worldwide AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Rasmussen subacute encephalitis
A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.
A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.
United Kingdom AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Anterior encephalocele
Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EIDEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Japan AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
Early infantile developmental and epileptic encephalopathy
Early myoclonic encephalopathy with suppression-bursts
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Early infantile epileptic encephalopathy
Short stature-locking fingers syndrome
A rare malformation syndrome with short stature characterized by intrauterine growth retardation and intermittent locking of the finger joints. Ventricular septal defect can also be present. There have been no further descriptions in the literature since 1987.
OBSOLETE: Envenomization by the Martinique lancehead viper
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Snakebite envenomation
OBSOLETE: Envenomization by Bothrops lanceolatus
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Developmental defect of the eye
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Holt-Oram syndrome
Shoulder and thorax deformity-congenital heart disease syndrome
JAE
Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
Europe AND has_annual_incidence_average_value : 7.5 AND has_annual_incidence_range : 1-9 / 100 000
Doose syndrome
EMAS
EMAtS
Epilepsy with myoclonic-astatic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
A rare, childhood-onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.
A rare infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. The focal continuous myoclonus (lasting from dozens of minutes to hours) is observed in the first months of life. During disease progression, prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occur and eventually progressive encephalopathy with hypotonia and ataxia is observed. All patients reported to have cortical atrophy. There have been no further descriptions in the literature since 1996.
Early-onset progressive encephalopathy with migrant continuous myoclonus
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
A rare focal childhood epilepsy characterized by seizures involving unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. Self-Limited Epilepsy with CentroTemporal Spikes (SeLECTS) was formerly known as benign Rolandic epilepsy or benign epilepsy with centrotemporal spikes.
Sweden AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000
Self-limited epilepsy with centrotemporal spikes
Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschütter-Tönz syndrome
A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Progressive epilepsy-intellectual disability syndrome, Finnish type
Battaglia-Neri syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.
Epilepsy-microcephaly-skeletal dysplasia syndrome
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
A rare genetic epilepsy syndrome characterized by seizures onset typically in the first week of life, in otherwise healthy newborns, and usually resolving within the first year of life.
Worldwide AND has_cases/families_value : 272.0 (Case(s))
CES
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
Europe AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). There have been no further descriptions in the literature since 1978.
Pacman dysplasia
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.
Epiphyseal stippling-osteoclastic hyperplasia syndrome
A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.
Erythrokeratodermia with ataxia
SCA34
Spinocerebellar ataxia and erythrokeratodermia
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary erythromelalgia
Olfactory neuroblastoma
Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.
Autoimmune hemolytic anemia and autoimmune thrombocytopenia
Immune pancytopenia
A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.
Exostoses-anetodermia-brachydactyly type E syndrome
Char-Douglas-Dungan syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Blepharophimosis-telecanthus-microstomia syndrome
Simosa craniofacial syndrome
Simosa-Penchaszadeh-Bustos syndrome
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
Flat face-microstomia-ear anomaly syndrome
FACES syndrome
Friedman-Goodman syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by polyhydramnios, low birth weight, dwarfism, limb anomalies (including hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II) dysmorphic features (including epicanthal folds, abnormal ears, microretrognathia, microstomia, microglossia, glossoptosis and webbed neck) and severe cardiac defects with a rapid fatal course. There have been no further descriptions in the literature since 1975.
Eastman-Bixler syndrome
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
Aarskog-like syndrome
Facio-digito-genital syndrome, Kuwait type
Teebi-Naguib-Alawadi syndrome
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
Autosomal recessive faciodigitogenital syndrome
Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Hoepffner-Dreyer-Reimers syndrome
Werner-like syndrome due to combined growth factor deficiency
A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.
Lipodystrophy due to peptidic growth factors deficiency
A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Bilateral striopallidodentate calcinosis
Deal-Barrat-Dillon syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Arthrogryposis-renal dysfunction-cholestasis syndrome
Fanconi syndrome-ichthyosis-dysmorphism syndrome
NON RARE IN EUROPE: Chronic fatigue immune dysfunction syndrome
NON RARE IN EUROPE: Myalgic encephalomyelitis
NON RARE IN EUROPE: Chronic fatigue syndrome
Alport syndrome with leukocyte inclusions and macrothrombocytopenia
Bifid femur-monodactylous ectrodactyly syndrome
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.
CFD
CSF
Isolated congenital femoral deficiency
Isolated congenital short femur
Isolated femoral intercalary meromelia
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Worldwide AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000
FFS
FHUFS
Femoral hypoplasia-unusual facies syndrome
A rare syndrome with limb reduction defects characterized by femoral agenesis/hypoplasia (bilateral or unilateral) and recognizable facies.
Worldwide AND has_cases/families_value : 68.0 (Case(s))
Brachmann-de Lange syndrome
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.
Denmark AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 1.24 AND has_birth_prevalence_range : 1-9 / 100 000
Tessier cleft number 1,2
Japan AND has_birth_prevalence_average_value : 190.5 AND has_birth_prevalence_range : >1 / 1000
United States AND has_birth_prevalence_average_value : 77.5 AND has_birth_prevalence_range : 6-9 / 10 000
Worldwide AND has_birth_prevalence_range : 6-9 / 10 000
A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.
Transcortin deficiency
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.
Corticosteroid-binding globulin deficiency
Plantar fibromatosis
A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.
Juvenile aponeurotic fibromatosis
Keasby tumor
A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.
Inclusion body fibromatosis
Recurring digital fibrous tumor of childhood
Reye tumor
A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.
A rare genetic subcutaneous tissue disease characterized by slow growth of numerous, painless, encapsulated lipomas located predominantly in the subcutaneous adipose tissue of the trunk and limbs, with relative sparing of the head, neck and shoulders. Clinical presentation mostly becomes evident in the third decade where a significant increase in size and number of lipomas is observed. At this stage they may cause discomfort and difficulty in performing daily physical tasks, otherwise they remain painless.
Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.
Progressive isolated segmental anhidrosis
Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.
Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
Hereditary hypercarotenemia and vitamin A deficiency
Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.
Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.
Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
France AND has_birth_prevalence_average_value : 98.0 AND has_birth_prevalence_range : 6-9 / 10 000
United States AND has_birth_prevalence_average_value : 56.0 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 80.0 AND has_birth_prevalence_range : 6-9 / 10 000
46,XX/46,XY chimerism
A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.
Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
Familial clubfoot with or without associated lower limb anomalies
Monosomy 15q13.3
A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global developmental delay (DD), intellectual disability (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific phenotype.
Norway AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 0.018 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_cases/families_value : 264.0 (Case(s))
A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Isolated autosomal dominant hypomagnesemia, Glaudemans type
A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.
ECO syndrome
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Endocrine-cerebro-osteodysplasia syndrome
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
Pancreatic insufficiency-anemia-hyperostosis syndrome
MFM6
Myofibrillar myopathy type 6
A rare myofibrillar myopathy characterized by childhood-/adolescent-onset progressive myopathy with proximal and/or distal muscle weakness that commonly progress to involve axial muscles due to BAG3 mutations. Patients present with toe-walking, gait disturbance, fatigue, rigid spine, scoliosis and joint contractures (particularly of the knees, ankles, and hips). Respiratory insufficiency and cardiomyopathy are frequently present. All patients exhibit a sensorimotor axonal/demyelinating (often with giant axons) peripheral neuropathy contributing to distal weakness and sensory loss. Disease typically progress rapidly in childhood-/adolescent-onset patient, however few adult-onset patients reported to have milder, slower progression with limited cardiac or respiratory involvement.
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.
Adult PLAN
Adult phospholipase A2-associated neurodegeneration
Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
PLA2G6-associated neurodegeneration, adult-onset
PLA2G6-related dystonia-parkinsonism
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
PLA2G6-related neurodegeneration, adult-onset
CARASIL
Maeda syndrome
CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome
OBSOLETE: Cleft lip-cone rod dystrophy syndrome
OBSOLETE: Cleft lip-progressive retinopathy syndrome
OBSOLETE: Cleft lip-retinopathy syndrome
A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.
Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.
Non-syndromic brain malformation
Syndrome with corpus callosum agenesis/dysgenesis as a major feature
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.
A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.
Worldwide AND has_cases/families_value : 55.0 (Case(s))
GABA(A) receptor, alpha 3
gamma-aminobutyric acid type A receptor subunit alpha3
KIAA1867
KIRRE
NEPH2
kirre like nephrin family adhesion molecule 3
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.
China AND has_birth_prevalence_range : <1 / 1 000 000
Portugal AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_range : <1 / 1 000 000
A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.
Hungary AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_point_prevalence_range : Unknown
United States AND has_birth_prevalence_average_value : 1.37 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_range : Unknown
McPherson-Clemens syndrome
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft lip/palate-hearing loss-sacral lipoma syndrome
Lowry-Yong syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
Cleft lip/palate-deafness-sacral lipoma syndrome
LTEC
Laryngo-tracheo-esophageal cleft
Laryngo-tracheo-esophageal diastema
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
Europe AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000
Complete factor I deficiency
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.
OBSOLETE: Novak syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Laryngotracheoesophageal cleft type 4
OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome
Median cleft lower facial stage
Median cleft of the lower lip and mandible
Median mandibular cleft
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Mitochondrial glycine transporter
ACFS
CCGE syndrome
Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
ARA9
Ah receptor activated 9
FK506-binding protein 37
FKBP prolyl isomerase 16
FKBP16
FKBP37
X-associated protein-2
XAP2
aryl hydrocarbon receptor-associated protein 9
hepatitis B virus X-associated cellular protein 2
KIP1
P27KIP1
Cowden disease
Multiple hamartoma syndrome
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
Netherlands AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.
Cleft palate-stapes fixation-oligodontia syndrome
MODY9
Paired box protein Pax-4
Pro-epidermal growth factor
KIAA0578
GCAP-2
GCAP-II
GCAP2
RP48
DEHAL1
GPI-HBP1
endothelial cell LPL transporter
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
PKBβ
PKBß
TLR adaptor MYD88
MYD88 innate immune signal transduction adaptor
MALT2
MIHC
RNF49
TNFR2-TRAF signaling complex protein
apoptosis inhibitor 2
c-IAP2
cIAP2
hiap-1
inhibitor of apoptosis protein 1
mammalian IAP homolog C
12CC4
HSPC215
PAX5/FOXP1 fusion protein
QRF1
fork head-related protein like B
glutamine-rich factor 1
hFKH1B
GHS-R
GHS-R1a
GHSR-1a
ghrelin receptor
A2AP
AAP
ALPHA-2-PI
API
alpha-2-antiplasmin
alpha-2-plasmin inhibitor
alpha2AP
CD3-GAMMA
CD3GAMMA
T-cell surface glycoprotein CD3 gamma chain
CD3 gamma subunit of T-cell receptor complex
corticosteroid binding globulin
transcortin
CRACM1
calcium release-activated calcium modulator 1
ORAI calcium release-activated calcium modulator 1
Say-Barber-Hobbs syndrome
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
Cleft palate-large ears-small head syndrome
GOK
A fissure type embryopathy that affects the soft and hard palate to varying degrees.
Australia AND has_birth_prevalence_average_value : 101.2 AND has_birth_prevalence_range : >1 / 1000
Australia AND has_point_prevalence_range : >1 / 1000
Austria AND has_birth_prevalence_average_value : 19.6 AND has_birth_prevalence_range : 1-5 / 10 000
Austria AND has_point_prevalence_range : 1-5 / 10 000
Belgium AND has_birth_prevalence_average_value : 40.8 AND has_birth_prevalence_range : 1-5 / 10 000
Belgium AND has_point_prevalence_range : 1-5 / 10 000
Bolivia AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Bolivia AND has_point_prevalence_range : 1-9 / 100 000
Chile AND has_birth_prevalence_average_value : 52.0 AND has_birth_prevalence_range : 1-5 / 10 000
Chile AND has_point_prevalence_range : 1-5 / 10 000
Croatia AND has_birth_prevalence_average_value : 56.8 AND has_birth_prevalence_range : 1-5 / 10 000
Croatia AND has_point_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 127.6 AND has_birth_prevalence_range : >1 / 1000
Denmark AND has_point_prevalence_range : >1 / 1000
Europe AND has_birth_prevalence_average_value : 53.6 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 25.5 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 47.5 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_point_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 67.5 AND has_birth_prevalence_range : 6-9 / 10 000
Hungary AND has_point_prevalence_range : 6-9 / 10 000
Iran, Islamic Republic of AND has_birth_prevalence_average_value : 26.0 AND has_birth_prevalence_range : 1-5 / 10 000
Iran, Islamic Republic of AND has_point_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 54.2 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_point_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 74.7 AND has_birth_prevalence_range : 6-9 / 10 000
Malta AND has_point_prevalence_range : 6-9 / 10 000
Mexico AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000
Mexico AND has_point_prevalence_range : 1-5 / 10 000
Netherlands AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 65.4 AND has_birth_prevalence_range : 6-9 / 10 000
Norway AND has_point_prevalence_range : 6-9 / 10 000
Poland AND has_birth_prevalence_average_value : 36.5 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_point_prevalence_range : 1-5 / 10 000
Portugal AND has_birth_prevalence_average_value : 14.2 AND has_birth_prevalence_range : 1-5 / 10 000
Portugal AND has_point_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 30.7 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_point_prevalence_range : 1-5 / 10 000
Specific population AND has_birth_prevalence_average_value : 68.0 AND has_birth_prevalence_range : 6-9 / 10 000
Specific population AND has_point_prevalence_range : 6-9 / 10 000
Sudan AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000
Sudan AND has_point_prevalence_range : 1-5 / 10 000
Switzerland AND has_point_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_point_prevalence_range : 1-5 / 10 000
Ukraine AND has_birth_prevalence_average_value : 57.2 AND has_birth_prevalence_range : 1-5 / 10 000
Ukraine AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 60.2 AND has_birth_prevalence_range : 6-9 / 10 000
United Kingdom AND has_point_prevalence_range : 6-9 / 10 000
COX4-2
COX4B
COXIV-2
cytochrome c oxidase subunit IV-like 2
BAG family molecular chaperone regulator 3
KIAA0936
LCK2
MAK-related kinase
MRK
serine/threonine-protein kinase ICK
Mathieu-De Broca-Bony syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.
Cleft palate-short stature-vertebral anomalies syndrome
POTX
PTX1
LYR motif containing 8
LYRM8
succinate dehydrogenase complex assembly factor 1
DFNA69
FPH2
KL-1
Kitl
SCF
SLF
familial progressive hyperpigmentation 2
mast cell growth factor
steel factor
stem cell factor
KIAA0021
MCMP
MDC9
Mltng
meltrin gamma
PC4
TIS7
interferon related developmental regulator 1
2P1
NADH:ubiquinone oxidoreductase complex assembly factor 3
MGC8685
class IIb beta-tubulin
KIAA0657
KLHL6
RP42
SBBI26
retinitis pigmentosa 42
glypican proteoglycan 6
C2F
Grcc2f
NEP1
EMG1 N1-specific pseudouridine methyltransferase
RNASE6PL
AGS5
Aicardi-Goutieres syndrome 5
HD domain containing 1
HDDC1
MOP-5
Mg11
SBBI88
monocyte protein 5
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
glia-activating factor
F-TCF
HGFB
HPTA
fibroblast-derived tumor cytotoxic factor
hepatopoietin A
lung fibroblast-derived mitogen
scatter factor
P5C
CPLS syndrome
Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
Cleft sternum
Sternum bifidum
A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.
TREB36
FFU complex
Femur-fibula-ulna dysostosis
Femur-fibula-ulna syndrome
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.
Alopecia-deafness-hypogonadism syndrome
Alopecia-hearing loss-hypogonadism syndrome
Alopecia-sensorineural deafness-hypogonadism syndrome
Alopecia-sensorineural hearing loss-hypogonadism syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Björnstad syndrome
CFTDM
A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.
Congenital fiber-type disproportion myopathy
A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period persents with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss.
Endomyocardial fibroelastosis
A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions.
UPS
An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.
Europe AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000
Autosomal dominant gingival fibromatosis
Autosomal dominant gingival hyperplasia
Hereditary gingival hyperplasia
Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
Gingival fibromatosis-facial dysmorphism syndrome
CGHT
Congenital generalized hypertrichosis terminalis
Hirsutism-congenital gingival hyperplasia syndrome
Hypertrichosis with or without gingival hyperplasia
A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.
Gingival fibromatosis-hypertrichosis syndrome
Gingival fibromatosis-progressive hearing loss syndrome
Jones syndrome
A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.
Gingival fibromatosis-progressive deafness syndrome
Murray-Puretic-Drescher syndrome
Puretic syndrome
Jaffe-Campanacci syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurofibromatosis type 1
Anomaly of puberty or/and menstrual cycle of genetic origin
Syndromic microphthalmia
Syndromic microphthalmia-anophthalmia-coloboma
Thompson-Baraitser syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Hepatic fibrosis-renal cysts-intellectual disability syndrome
IPF
An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.
Canada AND has_annual_incidence_average_value : 15.35 AND has_annual_incidence_range : 1-5 / 10 000
Canada AND has_point_prevalence_average_value : 29.8 AND has_point_prevalence_range : 1-5 / 10 000
Finland AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_point_prevalence_average_value : 8.6 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 21.2 AND has_point_prevalence_range : 1-5 / 10 000
Japan AND has_point_prevalence_average_value : 5.9 AND has_point_prevalence_range : 1-9 / 100 000
Korea, Republic of AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000
Korea, Republic of AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 11.6 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 5.55 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 16.125 AND has_point_prevalence_range : 1-5 / 10 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare neurologic disease
OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome
A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.
Specific population AND has_point_prevalence_range : >1 / 1000
Lymphatic filariasis (LF) is a severe form of filariasis, caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.
Finlay-Marks syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.
Congenital aortopulmonary artery fistula
Congenital aortopulmonary septal defect
A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.
PAVM
An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.
Worldwide AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare vascular anomaly
OBSOLETE: Congenital systemic arteriovenous fistula
Sporadic CJD
A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.
Australia AND has_annual_incidence_average_value : 0.125 AND has_annual_incidence_range : 1-9 / 1 000 000
Australia AND has_point_prevalence_average_value : 0.0937 AND has_point_prevalence_range : <1 / 1 000 000
Austria AND has_annual_incidence_average_value : 0.152 AND has_annual_incidence_range : 1-9 / 1 000 000
Austria AND has_point_prevalence_average_value : 0.114 AND has_point_prevalence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.117 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_point_prevalence_average_value : 0.087 AND has_point_prevalence_range : <1 / 1 000 000
Canada AND has_annual_incidence_average_value : 0.105 AND has_annual_incidence_range : 1-9 / 1 000 000
Canada AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000
Cyprus AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000
Cyprus AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000
Denmark AND has_annual_incidence_average_value : 0.147 AND has_annual_incidence_range : 1-9 / 1 000 000
Denmark AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_point_prevalence_average_value : 0.024 AND has_point_prevalence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_point_prevalence_average_value : 0.105 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 0.099 AND has_point_prevalence_range : <1 / 1 000 000
Greece AND has_annual_incidence_average_value : 0.062 AND has_annual_incidence_range : <1 / 1 000 000
Greece AND has_point_prevalence_average_value : 0.0465 AND has_point_prevalence_range : <1 / 1 000 000
Hungary AND has_annual_incidence_average_value : 0.0107 AND has_annual_incidence_range : 1-9 / 1 000 000
Hungary AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.142 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.1065 AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.123 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 0.092 AND has_point_prevalence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.102 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_point_prevalence_average_value : 0.0765 AND has_point_prevalence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.0086 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_point_prevalence_average_value : 0.0645 AND has_point_prevalence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.146 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_point_prevalence_average_value : 0.1095 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.096 AND has_point_prevalence_range : <1 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.142 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_average_value : 0.1065 AND has_point_prevalence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_point_prevalence_average_value : 0.129 AND has_point_prevalence_range : 1-9 / 1 000 000
Taiwan, Province of China AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000
Taiwan, Province of China AND has_point_prevalence_average_value : 0.041 AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.124 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.093 AND has_point_prevalence_range : <1 / 1 000 000
United States AND has_annual_incidence_average_value : 0.122 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 0.0915 AND has_point_prevalence_range : <1 / 1 000 000
Worldwide AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.088 AND has_point_prevalence_range : <1 / 1 000 000
Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.
Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Esophageal atresia
OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome
A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
EN-7
SH3PXD4
neutrophil NADPH oxidase factor 4
p40phox
BCMO
Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.
Bilateral anterior opercular syndrome
Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
Facio-pharyngo-glosso-masticatory diplegia
A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Bilirubin-UGT deficiency
A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.
Europe AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Fraser syndrome
Cryptophthalmos-syndactyly syndrome
A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.
Spain AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Osteochondrosis
OBSOLETE: Osteochondritis of tarsal/metatarsal bone
Frias syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 14q22q23 microdeletion syndrome
Growth deficiency-brachydactyly-dysmorphism syndrome
EAA4
GLUK6
GluK2
GluR-6
MRT6
excitatory amino acid receptor 4
excitatory amino acid receptor 4â
glutamate ionotropic receptor kainate type subunit 2
Fructokinase deficiency
Ketohexokinase deficiency
Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
Frydman-Cohen-Karmon syndrome
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (including high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.
Europe AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
CDA-II
CDAII
HEMPAS
trnP
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Craniosynostosis-anal anomalies-porokeratosis syndrome
Copenhagen syndrome
PAVF
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.
Progressive non-infectious anterior vertebral fusion
- BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).
SGFLD syndrome
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
Splenogonadal fusion-limb defects-micrognathia syndrome
Faulk-Epstein-Jones syndrome
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
HPRT deficiency
HPRT1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
A group of rare hereditary disorders of purine metabolism characterized by uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Krabbe disease, classic form
Krabbe disease, early-onset
United States AND has_annual_incidence_average_value : 0.254 AND has_annual_incidence_range : 1-9 / 1 000 000
Krabbe disease, late-onset
Cystadenoma of ovary in childhood
A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.
OBSOLETE: Borderline ovarian epithelial tumor
OBSOLETE: Ovarian tumor of low malignant potential
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Malignant epithelial tumor of ovary
OBSOLETE: Borderline epithelial tumor of ovary
Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.
Vaginal germ cell cancer
Vaginal germ cell malignant tumor
Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.
Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.
Worldwide AND has_cases/families_value : 159.0 (Case(s))
Non-dysgerminomatous germ cell cancer of ovary
Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome. Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.
Malignant non-dysgerminomatous germ cell tumor of ovary
A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Anoctamin-5-related LGMD R12
Autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD type 2L
LGMD2L
Limb-girdle muscular dystrophy type 2L
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
Anoctamin-5-related limb-girdle muscular dystrophy R12
Autosomal recessive LGMD type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2M
Fukutin-related LGMD R13
LGMD type 2M
A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
Fukutin-related limb-girdle muscular dystrophy R13
Autosomal recessive limb-girdle muscular dystrophy type 2N
LGMD type 2N
Limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).
POMT2-related limb-girdle muscular dystrophy R14
Autosomal recessive limb-girdle muscular dystrophy type 2O
LGMD type 2O
Limb-girdle muscular dystrophy type 2O
POMGNT1-related LGMD R15
A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
POMGNT1-related limb-girdle muscular dystrophy R15
AINM
Autoimmune necrotizing myositis
IMNM
NAM
Necrotizing autoimmune myositis
A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers.
Adult-onset overlap myositis
Non-specific myositis
A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).
Acquired rippling muscle disease
Immune-mediated rippling muscle disease
Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).
Rippling muscle disease with myasthenia gravis
Autosomal recessive distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 4
dSMA4
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
Autosomal recessive lower motor neuron disease with childhood onset
APBD
A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.
Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.
Subacute inflammatory demyelinating polyradiculoneuropathy
A rare neuroinflammatory disease characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) protein content. Subacute inflammatory demyelinating polyneuropathy (SIDP) is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).
Subacute inflammatory demyelinating polyneuropathy
Idiopathic asymptomatic hyperCKemia
Isolated asymptomatic hyperCKemia
A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.
Isolated asymptomatic elevation of creatine phosphokinase
GABA transaminase deficiency
A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
Gamma-aminobutyric acid transaminase deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Qualitative or quantitative defects of dystrophin
OBSOLETE: Other muscle weakness and/or chronic muscle pain
OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain
Infectious disease with peripheral neuropathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Acquired peripheral neuropathy
OBSOLETE: Toxic or/and iatrogenic neuropathy
Croatia AND has_point_prevalence_average_value : 13.3 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 8.78 AND has_point_prevalence_range : 1-9 / 100 000
Finland AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
Ireland AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000
New Zealand AND has_point_prevalence_average_value : 11.6 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_point_prevalence_average_value : 1.22 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 10.9 AND has_point_prevalence_range : 1-5 / 10 000
Specific population AND has_point_prevalence_average_value : 189.0 AND has_point_prevalence_range : >1 / 1000
United States AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Qualitative or quantitative defects of collagen 6
OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.
Bulbospinal muscular atrophy of childhood
Generalized bulbospinal muscular atrophy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Distal hereditary motor neuropathy
OBSOLETE: Distal spinal muscular atrophy
ZNF698
A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.
Lipid storage myopathy
Glycogen storage myopathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Idiopathic inflammatory myopathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Acquired skeletal muscle disease
Infectious, fungal or parasitic myopathy
A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.
A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.
Crouzon craniofacial dysostosis
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Australia AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000
Canada AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000
EGE
Eosinophilic enteritis
Eosinophilic gastroenterocolitis
A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.
Worldwide AND has_cases/families_value : 280.0 (Case(s))
Worldwide AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000
A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are Candida species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides species, or Aspergillus species, among others.
Spinal muscular atrophy associated with central nervous system anomaly
Rare hereditary disease with peripheral neuropathy
Rare hereditary metabolic disease with peripheral neuropathy
Rare hereditary systemic disease with peripheral neuropathy
Rare hereditary neurologic disease with peripheral neuropathy
Cerebellar ataxia with peripheral neuropathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Corpus callosum agenesis-neuronopathy syndrome
OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Acute and subacute inflammatory demyelinating polyradiculoneuropathy
Acute and subacute inflammatory demyelinating polyneuropathy
Malignant lymphoma with peripheral neuropathy
Qualitative or quantitative protein defects in neuromuscular diseases
Sarcoglycanopathy
Qualitative or quantitative defects of sarcoglycan
Qualitative or quantitative defects of alpha-sarcoglycan
Qualitative or quantitative defects of beta-sarcoglycan
Qualitative or quantitative defects of gamma-sarcoglycan
Qualitative or quantitative defects of delta-sarcoglycan
Dysferlinopathy
Qualitative or quantitative defects of dysferlin
Caveolinopathy
Qualitative or quantitative defects of caveolin-3
Dystrophinopathy
Qualitative or quantitative defects of dystrophin
Qualitative or quantitative defects of collagen 6
LAMA2-related muscular dystrophy
Qualitative or quantitative defects of merosin
Laminin subunit alpha 2-related muscular dystrophy
Integrinopathy
Qualitative or quantitative defects of integrin alpha-7
Qualitative or quantitative defects of perlecan
Qualitative or quantitative defects of calpain
Qualitative or quantitative defects of TRIM32
Qualitative or quantitative defects of myotubularin
Secondary alpha-dystroglycanopathy
Secondary dystroglycanopathy
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Qualitative or quantitative defects of FKRP
Qualitative or quantitative defects of fukutin
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).
China AND has_point_prevalence_average_value : 34.0 AND has_point_prevalence_range : 1-5 / 10 000
Finland AND has_point_prevalence_average_value : 26.0 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 28.9 AND has_point_prevalence_range : 1-5 / 10 000
Spinocerebellar ataxia-amyotrophy-deafness syndrome
Spinocerebellar ataxia-amyotrophy-hearing loss syndrome
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.
Gardner-Silengo-Wachtel syndrome
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
X-linked intellectual disability-epilepsy syndrome
Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Cramer-Niederdellmann syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Gorlin syndrome
MacDermot-Winter syndrome
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
Prominent glabella-microcephaly-hypogenitalism syndrome
ACSVL4
FATP-4
FATP4
Long-chain fatty acid transport protein 4
acyl-CoA synthetase very long chain family member 4
fatty acid transport protein 4
ACHM5
COD4
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
PDEA2
CORS1
PPI5PIV
Phosphatidylinositol polyphosphate 5-phosphatase type IV
pharbin
GEMSS syndrome
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).
ADCA2
Autosomal dominant cerebellar ataxia type 2
Autosomal dominant cerebellar ataxia type II
Congenital nonprogressive spinocerebellar ataxia
SCA29
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).
Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).
Worldwide AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
OBSOLETE: Cardiac papillary fibroelastoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare cardiac tumor
OBSOLETE: Papillary fibroelastoma of the heart
CAPS
Cryopyrin associated periodic syndrome
Cryopyrinopathy
NLRP3-associated AID
NLRP3-associated autoinflammatory syndrome
Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).
France AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000
NLRP3-associated autoinflammatory disease
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Glomerulonephritis-sparse hair-telangiectasis syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.
GSD due to hepatic glycogen synthase deficiency
GSD type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a
A rare genetically inherited anomaly of glycogen metabolism, considered a form of glycogen storage disease (GSD, or glycogenosis), characterized by post-meal hyperglycemia and fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as there is no storage of glycogen, the enzyme deficiency preventing hepatic glycogen synthesis.
Glycogen storage disease due to hepatic glycogen synthase deficiency
CADP
Chronic acquired demyelinating polyneuropathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Peripheral neuropathy associated with monoclonal gammopathy
OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
Acquired sensory neuronopathy
Non-paraneoplastic sensory neuronopathy
Non-paraneoplastic sensory ganglionopathy
OBSOLETE: Other neuronopathy related to autoimmune diseases
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-paraneoplastic sensory ganglionopathy
OBSOLETE: Other ganglionopathy related to autoimmune diseases
Paraneoplastic sensory neuronopathy
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
Goniodysgenesis-intellectual disability-short stature syndrome
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
A rare acquired peripheral neuropathy characterized by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paresthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. Systemic illnesses are absent in most cases.
Polyneuropathy associated with IgM monoclonal gammopathy
Systemic inflammatory disease associated with an acquired peripheral neuropathy
Peripheral neuropathy associated with monoclonal gammopathy
Hematological disease associated with an acquired peripheral neuropathy
Solid tumor associated with an acquired peripheral neuropathy
Qualitative or quantitative defects of protein POMGNT1
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Qualitative or quantitative defects of protein glycosyltransferase-like
Qualitative or quantitative defects of protein O-mannosyltransferase 1
Qualitative or quantitative defects of protein O-mannosyltransferase 2
Qualitative or quantitative defects of myofibrillar proteins
Qualitative or quantitative defects of desmin
Qualitative or quantitative defects of alphaB-cristallin
Qualitative or quantitative defects of filamin C
Qualitative or quantitative defects of protein ZASP
Qualitative or quantitative defects of titin
Qualitative or quantitative defects of telethonin
Qualitative or quantitative defects of alpha-actin
Daneman-Davy-Mancer syndrome
Thyroid-renal-digital anomalies
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
Multinodular goiter-cystic kidney-polydactyly syndrome
Qualitative or quantitative defects of nebulin
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Qualitative or quantitative defects of emerin
Qualitative or quantitative defects of selenoprotein N1
Qualitative or quantitative defects of plectin
Qualitative or quantitative defects of protein SERCA1
Goltz syndrome
Goltz-Gorlin syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Qualitative or quantitative defects of myotilin
KIAA1011
NUA
NUANCE
Nesp2
Nesprin-2
SYNE-2
nuclear envelope spectrin repeat-2
nucleus and actin connecting element
spectrin repeat containing nuclear envelope protein 2
SDH5
succinate dehydrogenase complex assembly factor 2
Dicer
HERNA
KIAA0928
dicer 1, double-stranded RNA-specific endoribonuclease
transient receptor potential cation channel subfamily M member 4
Ib772
KIAA0312
UREB1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
BBF2 human homolog on chromosome 7
BBF2H7
cAMP responsive element binding protein 3 like 2
BBF-2 homolog (drosophila)
OASIS
old astrocyte specifically induced substance
cAMP responsive element binding protein 3 like 1
Autosomal dominant adult-onset proximal SMA
Autosomal dominant late-onset spinal muscular atrophy, Finkel type
Finkel disease
SMAFK
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.
Autosomal dominant adult-onset proximal spinal muscular atrophy
DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
SMALED1
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Severe congenital encephalopathy due to MECP2 mutation
Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.
MECP2-related severe neonatal encephalopathy
PRPH1
CD116
alpha-GM-CSF receptor
alphaGMR
colony stimulating factor 2 receptor subunit alpha
BMP13
KFS
KFS1
NPHP9
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
Chondrodysplasia, Grebe type
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
Autosomal dominant rhegmatogenous retinal detachment
A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.
OBSOLETE: FJHN type 1
OBSOLETE: Familial juvenile gouty nephropathy
OBSOLETE: Familial nephropathy with gout
OBSOLETE: UMOD-associated FJHN
OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using UMOD-related autosomal dominant tubulointerstitial kidney disease
OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1
NON RARE IN EUROPE: Congenital isolated TBG deficiency
NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency
OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome
OBSOLETE: Grix-Blankenship-Peterson syndrome
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).
Isolated CAS
Isolated developmental verbal dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.
A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.
Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000
Non-Wilsonian hepatic copper toxicosis of infancy and childhood
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
Cone dystrophy with supernormal rod response
Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.
SPG18
Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
A rare panuveitis characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.
Endophthalmitis phacoanaphylactica
Lens-induced endophthalmitis
Lens-induced iridocyclitis
Lens-induced uveitis
Phacoallergic endophthalmitis
Phacoantigenic endophthalmitis
Phako-anaphylactic endophthalmitis
A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material.
Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapse, secondary to ischemic changes in the rectum.
Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.
Benign nocturnal alternating hemiplegia of childhood
Iron-refractory iron deficiency anemia
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
NON RARE IN EUROPE: Non-papillary urothelial carcinoma
NON RARE IN EUROPE: Non-papillary transitional cell carcinoma of the bladder
Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.
Developmental delay-hypotonia-extremities hypertrophy syndrome
Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.
Autosomal recessive intermediate osteopetrosis
A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
DIRA
Interleukin-1 receptor antagonist deficiency
OMPP
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.
Sterile multifocal osteomyelitis with periostitis and pustulosis
ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
Canada AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
Encephalopathy due to urocanase deficiency
A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Inherited congenital spastic quadriplegia
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.
Inherited congenital spastic tetraplegia
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.
Lethal polymalformative syndrome, Boissel type
Adult HCC
A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.
Europe AND has_annual_incidence_average_value : 3.22 AND has_annual_incidence_range : 1-9 / 100 000
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.
Congenital lethal myopathy, Compton-North type
GTPCH deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
Disembarkment syndrome
MdD
MdDS
Sickness of disembarkment
Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.
GBS
Guillain-Barré-Strohl syndrome
A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.
Denmark AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000
Egypt AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 2.42 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 1.72 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 1.45 AND has_annual_incidence_range : 1-9 / 100 000
Guízar Vázquez-Sánchez-Manzano syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterised by joint laxity, pectus carinatum and facial dysmorphism (including mild frontal bossing, lateral displacement of the inner canthi, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). There have been no further descriptions in the literature since 1980.
Dysmorphism-pectus carinatum-joint laxity syndrome
A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.
Macrocephaly-intellectual disability-autism syndrome
DYT15
Myoclonus-dystonia type 15
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Myoclonus-dystonia syndrome
DYT16
Early-onset dystonia parkinsonism
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Congenital trismus
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.
Congenital temporomandibular joint ankylosis
Spindle cell haemangioma
Spindle cell hemangioendothelioma
Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposis sarcoma and located in the dermis and subcutis.
Infantile haemangioma of rare localization
Infantile hemangioma of rare localization
Rare infantile haemangioma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Congenital hemangioma
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit.
François dyscephalic syndrome
Oculomandibulofacial syndrome
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Japan AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000
Dennis-Fairhurst-Moore syndrome
Hallermann-Streiff-François syndrome, severe form
Severe Hallermann-Streiff-François syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hallermann-Streiff syndrome
Turban tumor syndrome
Kleiner-Holmes syndrome
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.
Hallux varus-preaxial polysyndactyly syndrome
IDDM1
major histocompatibility complex, class II, DQ beta 1
SCA30
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.
Autosomal dominant proximal spinal muscular atrophy
Specific learning difficulty
Specific learning disorder
Dysphasia
A group of rare hereditary ataxia characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of episodic ataxia have been described to date (type 1 to type 7), but most of the reported cases are belong to type 1 and 2.
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Graham-Boyle-Troxell syndrome
Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare pulmonary disease
OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare vascular malformation
Rare venous malformation
Rare arteriovenous malformation
Complex vascular malformation with associated anomalie
Syndromic combined vascular malformation
CHHS
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pallister-Hall syndrome
Congenital hypothalamic hamartoma syndrome
BFHD
Beukes familial hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.
Cranio-facio-digito-genital syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.
Aminoaciduria, Hartnup type
Hartnup disorder
A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
Australia AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 3.85 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.
4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
Hydrocephalus-endocardial fibroelastosis-cataract syndrome
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.
Cystathionase deficiency
Cystathionine gamma-lyase deficiency syndrome
Gamma-cystathionase deficiency
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.
Canada AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000
Canada AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare ophthalmic disorder
A rare, locally aggressive, cutaneous or visceral vascular tumor characterized by either superficial lesions presenting as blue-purple infiltrated ill-defined plaques, or deep lesions usually manifesting with coagulation abnormality. They are associated in about 3 out of 4 of cases with potentially lethal thrombocytopenia and consumption coagulopathy (Kasabach-Merritt phenomenon; KMP).
Diffuse neonatal hemangiomatosis
Multifocal infantile haemangioma with extracutenous involvement
Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.
Multifocal infantile hemangioma with extracutenous involvement
Cavernous haemangiomas of face-supraumbilical midline raphe syndrome
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to LUMBAR syndrome
Sacral hemangiomas-multiple congenital abnormalities syndrome
ADCA
PENKB
beta-neoendorphin
dynorphin
leu-enkephalin
leumorphin
neoendorphin-dynorphin-enkephalin prepropeptide
preproenkephalin B
rimorphin
SFT
A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. NAB2-STAT6 gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features.
SPAX5
AFG3 like matrix AAA peptidase subunit 2
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.
GP135
glycoprotein gP135
cholesterol 7 alpha-monooxygenase
cholesterol 7a-hydroxylase
cholesterol 7α-hydroxylase
cytochrome P450 family 7 subfamily A member 1
CAG repeat protein 44
CAGH44
forkhead/winged-helix transcription factor
speech and language disorder 1
trinucleotide repeat containing 10
EA6
EAAT1
GLAST
GLAST-1
GLAST1
excitatory amino acid transporter 1
glutamate/aspartate transporter 1
KIAA0356
pleckstrin homology and RUN domain containing M1
OBSOLETE: HIPO syndrome
OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome
ICIL-1RA
IL-1RN
IL1F3
IL1RA
IRAP
interleukin-1 receptor antagonist protein
intracellular interleukin-1 receptor antagonist
FREAC1
HMFN0320
urocanase 1
AP-4 adapter complex mu subunit
MU-4
MU-ARP2
SPG50
adaptor-related protein complex AP-4 mu4 subunit
mu subunit of AP-4
mu-adaptin-related protein-2
adaptor related protein complex 4 subunit mu 1
ALKBH9
AlkB homolog 9
IFEX9
KIAA1752
MGC5149
alkB homolog 9
alpha-ketoglutarate-dependent dioxygenase
intragenic FTO exon 9 containing transcript
mRNA N(6)-methyladenine demethylase
FTO alpha-ketoglutarate dependent dioxygenase
Protein defect of cystin transport
A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
Australia AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000
Denmark AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_birth_prevalence_average_value : 0.59 AND has_birth_prevalence_range : 1-9 / 1 000 000
Specific population AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000
Non-syndromic longitudinal meromelia
Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.
Europe AND has_point_prevalence_average_value : 4.15 AND has_point_prevalence_range : 1-9 / 100 000
HSD14
PACT
PKR-associated protein X
RAX
protein activator of the interferon-induced protein kinase
protein activator of interferon induced protein kinase EIF2AK2
AHC
A rare neurological syndrome characterized by episodes of hemiplegia (alternating between the two sides of the body) or tetraplegia, and other accesses such as abnormal ocular movements, dystonia, and dysautonomia. Patients have permanent neurological impairment, variable degrees of intellectual disability, movement disorders, and psychiatric problems. Half of them present with epilepsy.
Denmark AND has_birth_prevalence_average_value : 0.94 AND has_birth_prevalence_range : 1-9 / 1 000 000
HbCC disease
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
Belgium AND has_birth_prevalence_average_value : 3.65 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 166.66 AND has_point_prevalence_range : >1 / 1000
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
Atypical HUS
aHUS
A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
China AND has_point_prevalence_average_value : 0.0278 AND has_point_prevalence_range : <1 / 1 000 000
United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Cutaneous mastocytosis-hearing loss-microtia syndrome
Mastocytosis-short stature-deafness syndrome
Mastocytosis-short stature-hearing loss syndrome
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.
Cutaneous mastocytosis-deafness-microtia syndrome
Rare ovarian malignant tumor
Europe AND has_point_prevalence_average_value : 49.0 AND has_point_prevalence_range : 1-5 / 10 000
Ovarian adenocarcinoma
Austria AND has_annual_incidence_average_value : 5.635 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 6.773 AND has_annual_incidence_range : 1-9 / 100 000
Bulgaria AND has_annual_incidence_average_value : 6.162 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 6.103 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 7.229 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 6.881 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 5.97 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 5.973 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 6.593 AND has_annual_incidence_range : 1-9 / 100 000
Iceland AND has_annual_incidence_average_value : 4.09 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 5.079 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 5.518 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 8.353 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 7.79 AND has_annual_incidence_range : 1-9 / 100 000
Malta AND has_annual_incidence_average_value : 5.653 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 5.306 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 7.116 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 5.698 AND has_annual_incidence_range : 1-9 / 100 000
Portugal AND has_annual_incidence_average_value : 2.834 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 5.519 AND has_annual_incidence_range : 1-9 / 100 000
Slovenia AND has_annual_incidence_average_value : 6.575 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 4.263 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 6.379 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 6.09 AND has_annual_incidence_range : 1-9 / 100 000
MMMT of the ovary
Ovarian carcinosarcoma
Ovarian malignant mixed Müllerian tumor
Ovarian malignant mixed epithelial mesenchymal tumor
Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.
Europe AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Malignant mixed Müllerian tumor of the ovary
OBSOLETE: Familial ovarian malignant tumor
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Malignant non-epithelial tumor of ovary
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary breast and ovarian cancer syndrome
Hereditary site-specific ovarian cancer syndrome
A rare malignant breast tumor disease encompassing special rare types of adenocarcinoma of the breast, i.e. tubular adenocarcinoma, mucinous carcinoma, medullary carcinoma NOS, papillary adenocarcinoma NOS, cribriform carcinoma, apocrine adenocarcinoma, secretory carcinoma, glycogen-rich clear cell carcinoma, lipid-rich carcinoma, and oncocytic carcinoma.
Austria AND has_annual_incidence_average_value : 2.325 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 2.221 AND has_annual_incidence_range : 1-9 / 100 000
Bulgaria AND has_annual_incidence_average_value : 2.397 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 2.175 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 2.717 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 3.371 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 3.55 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 2.615 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 3.812 AND has_annual_incidence_range : 1-9 / 100 000
Iceland AND has_annual_incidence_average_value : 2.428 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 2.305 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 4.103 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 1.191 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 0.898 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 2.199 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 3.264 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 3.017 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 1.812 AND has_annual_incidence_range : 1-9 / 100 000
Portugal AND has_annual_incidence_average_value : 1.697 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 2.171 AND has_annual_incidence_range : 1-9 / 100 000
Slovenia AND has_annual_incidence_average_value : 2.315 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 2.142 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 3.187 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 3.638 AND has_annual_incidence_range : 1-9 / 100 000
Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.
Austria AND has_annual_incidence_average_value : 0.081 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.226 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.059 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.136 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.096 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.108 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.238 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.163 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Salivary gland type carcinoma of the breast
Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.
Austria AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.095 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.323 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.064 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.054 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000
Salivary gland type cancer of the breast
Rare cancer of uterus
Rare malignant tumor of uterus
Rare uterine malignant tumor
Rare malignant tumor of corpus uteri
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare cancer of corpus uteri
OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri
Mixed epithelial and mesenchymal cancer of corpus uteri
Malignant mixed epithelial and mesenchymal tumor of corpus uteri
Lymphedema-lymphangiectasia-intellectual disability syndrome
A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.
A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.
Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.
Malignant mixed Müllerian tumor of the corpus uteri
Mixed Müllerian cancer of corpus uteri
Uterine carcinosarcoma
Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.
Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.
Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.
Malignant peripheral neuroectodermal tumor of the corpus uteri
Peripheral neuroectodermal cancer of the corpus uteri
Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.
Primitive neuroectodermal tumor of the corpus uteri
AIH
A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.
Denmark AND has_annual_incidence_average_value : 1.68 AND has_annual_incidence_range : 1-9 / 100 000
Denmark AND has_point_prevalence_average_value : 23.9 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000
Israel AND has_annual_incidence_average_value : 0.67 AND has_annual_incidence_range : 1-9 / 1 000 000
Israel AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000
New Zealand AND has_point_prevalence_average_value : 24.5 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_point_prevalence_average_value : 16.9 AND has_point_prevalence_range : 1-5 / 10 000
Singapore AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 0.95 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 11.6 AND has_point_prevalence_range : 1-5 / 10 000
Specific population AND has_point_prevalence_average_value : 42.9 AND has_point_prevalence_range : 1-5 / 10 000
Sweden AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_average_value : 10.7 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 23.5 AND has_point_prevalence_range : 1-5 / 10 000
Stromal sarcoma of the corpus uteri
Endometrial squamous cell carcinoma
Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.
Austria AND has_annual_incidence_average_value : 0.117 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.177 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.139 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.113 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.106 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000
Squamous cell carcinoma of the corpus uteri
Endometrial undifferentiated carcinoma
Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.
Undifferentiated carcinoma of the corpus uteri
Endometrial serous carcinoma
A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis.
High-grade neuroendocrine carcinoma of the uterine corpus
Poorly differentiated neuroendocrine carcinoma of the corpus uteri
Poorly differentiated neuroendocrine carcinoma of the endometrium
High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.
High-grade neuroendocrine carcinoma of the corpus uteri
Low-grade neuroendocrine tumor of the uterine corpus
Well-differentiated neuroendocrine neoplasm of the endometrium
Well-differentiated neuroendocrine tumor of the corpus uteri
Well-differentiated neuroendocrine tumor of the endometrium
Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.
Low-grade neuroendocrine tumor of the corpus uteri
OBSOLETE: Endometrial adenoid cystic carcinoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Adenoid cystic carcinoma of the cervix uteri
OBSOLETE: Adenoid cystic carcinoma of the corpus uteri
Endometrial transitional cell carcinoma
A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.
Transitional cell carcinoma of the corpus uteri
Germ cell cancer of the corpus uteri
Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.
Malignant germ cell tumor of the corpus uteri
Rare cervical cancer
Rare cervical malignant tumor
Rare malignant tumor of cervix uteri
Cervical squamous cell carcinoma
Austria AND has_annual_incidence_average_value : 4.104 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 4.67 AND has_annual_incidence_range : 1-9 / 100 000
Bulgaria AND has_annual_incidence_average_value : 11.822 AND has_annual_incidence_range : 1-5 / 10 000
Croatia AND has_annual_incidence_average_value : 5.539 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 8.277 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 10.336 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 4.28 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 1.885 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 4.871 AND has_annual_incidence_range : 1-9 / 100 000
Iceland AND has_annual_incidence_average_value : 3.707 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 4.204 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 3.307 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 7.362 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 11.192 AND has_annual_incidence_range : 1-5 / 10 000
Malta AND has_annual_incidence_average_value : 1.759 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 3.063 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 4.756 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 7.941 AND has_annual_incidence_range : 1-9 / 100 000
Portugal AND has_annual_incidence_average_value : 5.478 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 8.555 AND has_annual_incidence_range : 1-9 / 100 000
Slovenia AND has_annual_incidence_average_value : 7.507 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 2.867 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 2.657 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 3.312 AND has_annual_incidence_range : 1-9 / 100 000
Squamous cell carcinoma of the cervix uteri
Cervical adenocarcinoma
Austria AND has_annual_incidence_average_value : 0.762 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.966 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 1.108 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 0.968 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 1.108 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 1.01 AND has_annual_incidence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 0.899 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.987 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 1.065 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 0.789 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.774 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 1.118 AND has_annual_incidence_range : 1-9 / 100 000
Malta AND has_annual_incidence_average_value : 0.471 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.765 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 1.177 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 0.766 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 1.007 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 1.048 AND has_annual_incidence_range : 1-9 / 100 000
Slovenia AND has_annual_incidence_average_value : 1.12 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 0.868 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.738 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.918 AND has_annual_incidence_range : 1-9 / 1 000 000
High-grade neuroendocrine carcinoma of the uterine cervix
Poorly differentiated neuroendocrine carcinoma of the cervix uteri
Poorly differentiated neuroendocrine cervical carcinoma
High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.
High-grade neuroendocrine carcinoma of the cervix uteri
Cervical malignant mixed epithelial and mesenchymal tumor
Mixed epithelial and mesenchymal cancer of cervix uteri
Malignant mixed epithelial and mesenchymal tumor of cervix uteri
Cervical carcinosarcoma
Cervical malignant Müllerian mixed tumor
Malignant Müllerian mixed tumor of the cervix uteri
Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.
Worldwide AND has_annual_incidence_range : <1 / 1 000 000
Cervical adenosarcoma
A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.
Cervical malignant mesenchymal tumor
Cervical sarcoma
Malignant mesenchymal tumor of cervix uteri
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
46,XX ovotesticular difference of sex development
Cervical rhabdomyosarcoma
Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.
Cervical leiomyosarcoma
Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.
Cervical malignant peripheral neuroectodermal tumor
Cervical peripheral neuroectodermal cancer
Malignant peripheral neuroectodermal tumor of the cervix uteri
Peripheral neuroectodermal cancer of cervix uteri
Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.
Primitive neuroectodermal tumor of the cervix uteri
OBSOLETE: Cervical papillary carcinoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Squamous cell carcinoma of the cervix uteri
OBSOLETE: Papillary carcinoma of the cervix uteri
Cervical adenoid cystic carcinoma
A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.
Adenoid cystic carcinoma of the cervix uteri
Cervical adenoid basal carcinoma
A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.
Adenoid basal carcinoma of the cervix uteri
Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).
Glassy cell carcinoma of the cervix uteri
Cervical germ cell cancer
Cervical malignant germ cell tumor
Germ cell cancer of the cervix uteri
Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.
Malignant germ cell tumor of the cervix uteri
Intellectual disability-epilepsy-bulbous nose syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.
Cystinuria-lysinuria syndrome
A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.
Australia AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000
Canada AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000
Sweden AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000
CDH
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.
Austria AND has_birth_prevalence_average_value : 39.3 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 19.8 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 21.2 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 23.6 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 23.2 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 21.7 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 22.6 AND has_birth_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 49.8 AND has_birth_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 29.2 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 22.9 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 9.4 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 38.9 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 19.7 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000
Froster-Huch syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.
Diaphragmatic defect-limb deficiency-skull defect syndrome
DBS/FOAR syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndrome of ocular and facial anomalies, telecanthus and hearing loss
A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
X-linked lissencephaly type 1
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.
Lissencephaly type 1 due to doublecortin gene mutation
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.
Congenital essential nyctalopia
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
Hirschsprung disease-type D brachydactyly syndrome
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-intellectual disability syndrome
A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
Al Gazali-Donnai-Muller syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Santos-Mateus-Leal syndrome
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
Hirschsprung disease-deafness-polydactyly syndrome
OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare syndromic intellectual disability
OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome
HAL deficiency
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinuria
Hyperhistidinemia
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Japan AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000
Sweden AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000
A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.
Histidinuria-renal tubular defect syndrome
CLN disease
NCL
NCL disease
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Italy AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000
Norway AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare developmental defect during embryogenesis
HPE
A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.
Europe AND has_birth_prevalence_average_value : 13.4 AND has_birth_prevalence_range : 1-5 / 10 000
Japan AND has_birth_prevalence_average_value : 502.0 AND has_birth_prevalence_range : >1 / 1000
Latin America AND has_birth_prevalence_average_value : 21.6 AND has_birth_prevalence_range : 1-5 / 10 000
Specific population AND has_birth_prevalence_average_value : 10.9 AND has_birth_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 60.6 AND has_birth_prevalence_range : 6-9 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000
Camero-Lituania-Cohen syndrome
Genoa syndrome
A rare syndromic craniosynostosis characterized by primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Additional clinical features may include craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay. There have been no further descriptions in the literature since 1993.
Holoprosencephaly-craniosynostosis syndrome
Isolated prelingual genetic deafness
Isolated prelingual genetic hearing loss
Prelingual non-syndromic genetic hearing loss
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-syndromic genetic deafness
Prelingual non-syndromic genetic deafness
Isolated postlingual genetic deafness
Isolated postlingual genetic hearing loss
Postlingual non-syndromic genetic hearing loss
Postlingual non-syndromic genetic deafness
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
Spain AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_range : <1 / 1 000 000
Holoprosencephaly-caudal dysgenesis syndrome
Pseudo-trisomy 13 syndrome
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.
Holoprosencephaly-postaxial polydactyly syndrome
Complete transposition
TGA
TGV
Transposition of the great vessels
Belgium AND has_birth_prevalence_average_value : 23.3 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 59.5 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 31.7 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 33.4 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 28.8 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 18.1 AND has_birth_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 40.9 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 31.1 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000
Portugal AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 37.7 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 33.9 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000
Congenitally corrected transposition of the great vessels
Discordant ventriculoarterial and atrioventricular connections
Double discordance
A rare cardiac malformation characterized by the combination of discordant atrioventricular (AV) and ventriculo-arterial (VA) connections so that the morphologically right atrium connects to the morphologically left ventricle, the morphologically left atrium connects to the morphologically right ventricle, the morphologically right ventricle connects to the aorta, and the morphologically left ventricle connects to the pulmonary trunk. It is usually accompanied by other cardiovascular malformations which determine the clinical picture.
Worldwide AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Congenitally corrected transposition of the great arteries
Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
Holzgreve-Wagner-Rehder syndrome
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.
Isolated congenitally uncorrected transposition of the great vessels
Isolated congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great vessels with cardiac malformation
TGA with cardiac malformation
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Adair-Dighton syndrome
Mild osteogenesis imperfecta
Non-deforming osteogenesis imperfecta
OI type 1
Van der Hoeve syndrome
A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.
Sweden AND has_birth_prevalence_average_value : 5.16 AND has_birth_prevalence_range : 1-9 / 100 000
Homocarnosinase deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive spastic paraplegia type 11
Lethal osteogenesis imperfecta
OI type 2
A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.
OI type 3
Progressive deforming osteogenesis imperfecta
Severe osteogenesis imperfecta
A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.
Sweden AND has_birth_prevalence_average_value : 0.89 AND has_birth_prevalence_range : 1-9 / 1 000 000
OI type 4
A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.
Sweden AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000
OI type 5
A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
A rare, childhood-onset neurodegenerative disorder characterized by progressive dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Classic PKAN has early onset and rapid progression and accounts for about 75% of cases.
Classic pantothenate kinase-associated neurodegeneration
NBIA1, atypical form
Neurodegeneration with brain iron accumulation type 1, atypical form
PKAN, atypical form
A rare neurodegenerative disorder characterized by adolescent to adult-onset of slowly progressive dystonia, dysarthria, neuropsychiatric changes, parkinsonism and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Atypical pantothenate kinase-associated neurodegeneration (PKAN) has later onset and slower progression than classic PKAN and accounts for about 25% of cases.
Atypical pantothenate kinase-associated neurodegeneration
Functional methionine synthase deficiency type cblE
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, classic form
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, adult neurologic onset
DDEB, Pasini type
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.
Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000
Functional methionine synthase deficiency type cblG
Bockenheimer syndrome
Extensive venous malformation
Genuine diffuse phlebectasia
A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.
An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
Worldwide AND has_cases/families_value : 30.0 (Family(ies))
Occipital atretic cephalocele-unusual facies-large feet syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.
OBSOLETE: Atypical HUS with thrombomodulin anomaly
OBSOLETE: D- HUS with thrombomodulin anomaly
OBSOLETE: Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly
OBSOLETE: aHUS with thrombomodulin anomaly
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality
OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly
Hadziselimovic syndrome
Microcephaly-faciocardioskeletal syndrome
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
NON RARE IN EUROPE: Obesity due to MC3R deficiency
Azoospermia due to maturation arrest
Azoospermia due to meiosis defect
Male infertility with normal virilization due to maturation arrest
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with normal virilization due to meiosis defect
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Early-onset partial cataract
OBSOLETE: Autosomal recessive childhood-onset cortical cataract
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Early-onset non-syndromic cataract
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Early-onset non-syndromic cataract
OBSOLETE: Infantile non-syndromic cataract
RI-CMT type A
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Isolated congenital acropachy
Isolated congenital digital clubbing
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
5-fluorouracil intoxication
A rare intoxication caused by the prolonged, low-dose administration of 5-fluorouracil, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-fluorouracil poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-fluorouracil-related toxicity than men.
A rare intestinal disease characterized by non-specific inflammation of the ileal reservoir following ileal pouch anal anastomosis surgery. It generally occurs after the restoration of the fecal stream through the pouch and may be classified as acute or chronic, depending on the symptom duration (less or more than 4 weeks). Clinical presentation is variable and unspecific and commonly includes increased stool frequency and fluidity, rectal bleeding, abdominal cramps, bowel urgency, tenesmus, and nocturnal bowel incontinence.
Europe AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000
RCC
Europe AND has_annual_incidence_average_value : 8.35 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 42.0 AND has_point_prevalence_range : 1-5 / 10 000
Rare pancreatic carcinoma
Europe AND has_annual_incidence_average_value : 11.79 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_lifetime_prevalence_average_value : 8.3 AND has_lifetime_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 15.5 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000
Pulmonary fungal infections in patients deemed at risk
Hunter syndrome type A
Iduronate 2-sulfatase deficiency type A
MPS2A
MPSIIA
Mucopolysaccharidosis type 2, early progressive form
Mucopolysaccharidosis type 2, neuropathic form
Mucopolysaccharidosis type 2A
Mucopolysaccharidosis type II, severe form
Mucopolysaccharidosis type IIA
Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
Mucopolysaccharidosis type 2, severe form
Hunter syndrome type B
Iduronate 2-sulfatase deficiency type B
MPS2B
MPSIIB
Mucopolysaccharidosis type 2, non-neuropathic form
Mucopolysaccharidosis type 2, slowly progressive form
Mucopolysaccharidosis type 2B
Mucopolysaccharidosis type II, attenuated form
Mucopolysaccharidosis type IIB
Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.
Mucopolysaccharidosis type 2, attenuated form
CYP-S1
CYPB
OI9
PPIase
S-cyclophilin
SCYLP
cyclophilin B
peptidyl-prolyl cis-trans isomerase B
rotamase B
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly present at birth with no other cerebral anomalies, moderate intellectual disability, marfanoid habitus (including tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity) and focal segmental glomerulonephritis leading to renal failure. Dorsal kyphosis can also be present. There have been no further reports since 1992.
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
Limbic encephalitis with NMDA receptor antibodies
N-methyl-D-aspartate receptor encephalitis
NMDARE
anti-NMDA receptor encephalitis
A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.
PML
Progressive multifocal leukoencephalitis
France AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000
Progressive multifocal leukoencephalopathy
Bifid nose with or without anorectal and renal anomalies
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome
Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome
Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome
Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome
ADTKD-REN
FJHN type 2
Familial juvenile hyperuricemic nephropathy type 2
REN-associated FJHN
REN-associated familial juvenile hyperuricemic nephropathy
REN-associated kidney disease
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease.
REN-related autosomal dominant tubulointerstitial kidney disease
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.
Trisomy 17q21.31
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
Monosomy 19q13.11
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Trisomy Xp11.22p11.23
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Cerebral folate deficiency
Cerebral folate transport deficiency
Folate receptor alpha deficiency
Neurodegenerative syndrome due to cerebral folate transport deficiency
17p13.3 duplication syndrome
Trisomy 17p13.3
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).
Combined immunodeficiency due to DOCK8 deficiency
Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
Progressive polyneuropathy with bilateral striatal necrosis
Congenital absence of pain with hyperhidrosis
Congenital analgesia with hyperhidrosis
Congenital indifference to pain with hyperhidrosis
Congenital insensitivity to pain with hyperhidrosis
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.
Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Infantile neuroaxonal dystrophy
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Hereditary hypotrichosis with recurrent skin vesicles
OBSOLETE: Circumscribed lymphangioma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Macrocystic lymphatic malformation
OBSOLETE: Circumscribed lymphatic malformation
Hereditary thrombophilia due to congenital HRG deficiency
A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Infantile cellular interstitial pneumonitis
PIG
Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).
NCHI
NEHI
Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.
Neuroendocrine cell hyperplasia of infancy
Neonatal acute respiratory distress due to surfactant protein B deficiency
A rare genetic interstitial lung disease characterized by progressive and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.
Worldwide AND has_birth_prevalence_average_value : 0.067 AND has_birth_prevalence_range : <1 / 1 000 000
Neonatal acute respiratory distress syndrome due to SP-B deficiency
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.
Chronic respiratory distress with surfactant metabolism deficiency
GSD with hypertrophic cardiomyopathy
Glycogenosis with hypertrophic cardiomyopathy
Glycogen storage disease with hypertrophic cardiomyopathy
Lysosomal disease with hypertrophic cardiomyopathy
Mitochondrial disease with hypertrophic cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Syndrome associated with hypertrophic cardiomyopathy
Non-familial hypertrophic cardiomyopathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-familial hypertrophic cardiomyopathy
OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training
Neuromuscular disease with dilated cardiomyopathy
Mitochondrial disease with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Syndrome associated with dilated cardiomyopathy
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural hearing loss with dilated cardiomyopathy
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Sensorineural deafness with dilated cardiomyopathy
Lysosomal disease with restrictive cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.
Inherited isolated arrhythmogenic cardiomyopathy
A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.
Japan AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000
Darier-White disease
Keratosis follicularis
A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.
Denmark AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000
Singapore AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000
Ferlini-Ragno-Calzolari syndrome
Waaler-Aarskog syndrome
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
JK1
SCAN-1
SHAPY
Soluble Ca-Activated Nucleotidase, isozyme 1
apyrase 1 homolog (C. lectularius)
CILD13
DAU1
ODA7
outer row dynein assembly 7 homolog (Chlamydomonas)
swt
IKBKBBP
KIAA1882
MRT13
NIBP
TRAPP 120 kDa subunit
TRS120
tularik gene 1
trafficking protein particle complex subunit 9
Daish-Hardman-Lamont syndrome
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.
Hydrocephaly-tall stature-joint laxity syndrome
Bickers-Adams syndrome
HSAS
X-linked HSAS
X-linked acqueductal stenosis
X-linked hydrocephalus
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.
Worldwide AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000
Hydrocephalus with stenosis of the aqueduct of Sylvius
Sengers-Hamel-Otten syndrome
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
Hydrocephalus-obesity-hypogonadism syndrome
major histocompatibility complex, class I, A
Palmer-Pagon syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.
Hydrocephaly-low insertion umbilicus syndrome
OBSOLETE: RCM3
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial isolated restrictive cardiomyopathy
OBSOLETE: Familial restrictive cardiomyopathy type 3
A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.
Europe AND has_birth_prevalence_average_value : 46.5 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 59.0 AND has_birth_prevalence_range : 6-9 / 10 000
Daentl-Townsend-Siegel syndrome
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.
Hydrocephalus-blue sclerae-nephropathy syndrome
KIAA0089
glycerol-3-phosphate dehydrogenase 1 like
SCNB3
sodium voltage-gated channel beta subunit 3
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Finland AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
Autosomal recessive limb-girdle muscular dystrophy type 2F
Delta-sarcoglycan-related LGMD R6
Delta-sarcoglycanopathy
LGMD due to delta-sarcoglycan deficiency
LGMD type 2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2F
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare immune disease
Glutamate-aspartate transport defect
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
Specific population AND has_birth_prevalence_average_value : 2.76 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_range : Unknown
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
Worldwide AND has_cases/families_value : 72.0 (Case(s))
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.
Bennion-Patterson syndrome
Howell-Evans syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Tylosis-oesophageal carcinoma syndrome
A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.
Palmoplantar keratoderma-esophageal carcinoma syndrome
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.
Ireland AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
4-hydroxybutyric aciduria
Gamma-hydroxybutyric aciduria
SSADH deficiency
A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Worldwide AND has_cases/families_value : 450.0 (Case(s))
Worldwide AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000
Succinic semialdehyde dehydrogenase deficiency
Drash syndrome
Wilms tumor-DSD syndrome
Wilms tumor-disorder of sex development syndrome
A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.
Focal palmoplantar and gingival hyperkeratosis
Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.
Focal palmoplantar and gingival keratoderma
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Powell-Venencie-Gordon syndrome
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.
Palmoplantar keratoderma-spastic paralysis syndrome
PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
Palmoplantar keratoderma-deafness syndrome
XP/CS complex
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).
Xeroderma pigmentosum-Cockayne syndrome complex
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition.
A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
Taiwan, Province of China AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000
Taiwan, Province of China AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000
Kozlowski-Tsuruta syndrome
A form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Limited cutaneous systemic scleroderma
Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.
Systemic sclerosis sine scleroderma
Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.
Factor V Quebec
A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
Canada AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
Specific population AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Bleeding diathesis due to thromboxane A2 receptor variants
OBSOLETE: Bleeding diathesis due to thromboxane synthesis deficiency
Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.
Macrothrombocytopenia with mitral valve insufficiency
Isolated hereditary macrothrombocytopenia
Isolated inherited giant platelet disorder
Isolated inherited macrothrombocytopenia
Isolated hereditary giant platelet disorder
AFAP
APC-related AFAP
APC-related attenuated FAP
APC-related attenuated familial polyposis coli
Attenuated FAP
Attenuated familial polyposis coli
A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.
Attenuated familial adenomatous polyposis
Laron-like syndrome
Short stature due to STAT5b deficiency
This syndrome is characterized by severe growth retardation associated with immunodeficiency.
Iron overload disease
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
JS-R
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.
Ankylosing vertebral hyperostosis with tylosis
CRL
CRL3
GLM-R
Glmr
IL-31RA
KIAA1983
collagen and calcium binding EGF domains 1
KIAA0862
SOC-2
SOC2
SUR-8
SUR8
SHOC2 leucine rich repeat scaffold protein
Hyperphenylalaninemic embryopathy
Maternal PKU syndrome
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.
HPRG
HRGP
histidine-proline rich glycoprotein
thrombophilia due to elevated HRG
C9orf143
C9orf145
TILRR
RASSF4
FRa
FRα
folate receptor alpha
ZIR8
CDHF3
DSC
DSC1
DSC2
Adult dermatomyositis
A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-γ, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.
Argentina AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000
Argentina AND has_point_prevalence_average_value : 10.2 AND has_point_prevalence_range : 1-5 / 10 000
Australia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Australia AND has_point_prevalence_average_value : 1.97 AND has_point_prevalence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_point_prevalence_average_value : 11.3 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_point_prevalence_average_value : 4.9172 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_annual_incidence_average_value : 0.9704 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 7.5312 AND has_point_prevalence_range : 1-9 / 100 000
Poikiloderma of Rothmund-Thomson type 1
RTS1
Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.
Poikiloderma of Rothmund-Thomson type 2
RTS2
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.
Hereditary sclerosing poikiloderma, Weary type
POIKTMP syndrome
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Poikiloderma with neutropenia, Clericuzio type
Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.
Acrocephalopolydactylous dysplasia
Elejalde acrocephalopolydactyly
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000
Familial cerebral cavernous malformation
MBD
A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.
A rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.
Combined hyperactive dysfunction syndrome of the cranial nerves
Facial hemispasm
Focal myoclonus of face
A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported.
Worldwide AND has_point_prevalence_average_value : 10.95 AND has_point_prevalence_range : 1-5 / 10 000
A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.
United Kingdom AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 4.3 AND has_annual_incidence_range : 1-9 / 100 000
A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.
United States AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000
Acrofrontofacionasal dysostosis type 2
Acrofrontofacionasal syndrome type 2
Naguib-Richieri-Costa syndrome
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Hypertelorism-hypospadias-polysyndactyly syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Acquired peripheral movement disorder
Facial neuralgia
Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.
ASSA
Aminopterin syndrome-like sine aminopterin
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Cerebral proliferative glomeruloid vasculopathy
Encephaloclastic proliferative vasculopathy
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Proliferative vasculopathy and hydranencephaly/hydrocephaly
A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.
Roifman-Chitayat syndrome
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).
Combined immunodeficiency with facio-oculo-skeletal anomalies
A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.
ARCL1C
Autosomal recessive cutis laxa type 1C
Urban-Rifkin-Davis syndrome
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using CNTNAP2-related developmental and epileptic encephalopathy
CD59 glycoprotein
EJ16
EJ30
EL32
membrane attack complex inhibition factor
membrane inhibitor of reactive lysis
B-cell antigen receptor complex-associated protein alpha chain
IGAlpha
Ig-alpha
MB-1
MB1
CD8alpha
p32
ADN
adipsin
immunoglobulin heavy constant gamma 2 (G2m marker)
Bixler-Christian-Gorlin syndrome
HMC syndrome
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Hypertelorism-microtia-facial clefting syndrome
HSPC244
JBTS2
N-ras
Brr2
HELIC2
KIAA0788
U5 snRNP specific protein, 200 KD
U5-200KD
bad response to refrigeration 2 homolog (S. cerevisiae)
small nuclear ribonucleoprotein U5 subunit 200
LH2D1
Froster-Iskenius-Waterson-Hall syndrome
Malignant hyperthermia-arthrogryposis-torticollis syndrome
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.
Multiple pterygium-malignant hyperthermia syndrome
A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.
Maternal hyperthermia-induced birth defects
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.
Cervical hypertrichosis-peripheral neuropathy syndrome
Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.
Erosive pustular dermatosis of the scalp
Hairy elbows syndrome
MacDermot-Patton-Williams syndrome
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.
A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.
Hypertrichosis universalis
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.
NON RARE IN EUROPE: Tooth agenesis
Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome
Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
A rare developmental defect during embryogenesis characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism. Additional features, which vary between patients, may include facial dysmorphism (including prominent nasal bone, beaked nose, micrognathia and ptosis), intellectual disability, progeroid appearance, skeletal abnormalities (such as scoliosis or osteoporosis), collagenoma, and metabolic abnormalities including lipodystrophy.
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Nephrogenic diabetes insipidus
A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.
Specific population AND has_birth_prevalence_average_value : 0.44 AND has_birth_prevalence_range : 1-9 / 1 000 000
Salti-Salem syndrome
A rare endocrine disease characterized by congenital hypogonadotropic hypogonadism and frontoparietal alopecia. Affected males also exhibit an absence of facial, axillary and pubic hair. Affected females present with more severe alopecia evident from early childhood, primary amenorrhea, absence of axillary and pubic hair, and lack of breast development. Except for failure of sexual development, all affected individuals had normal physical and intellectual development. There have been no further descriptions in the literature since 1979.
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Al Awadi-Farag-Teebi syndrome
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Cantalamessa-Baldini-Ambrosi syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild intellectual disability, hypogonadism due to primary gonadal failure, mitral valve prolapse, and short stature. Dysmorphic features include low posterior hairline, highly arched palate, short neck, short fourth metacarpals, and cubitus valgus. There have been no further descriptions in the literature since 1989.
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Sohval-Soffer syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, hypergonadotropic hypogonadism, germinal aplasia or complete tubular fibrosis, aspermatogenesis, gynecomastia, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. There have been no further descriptions in the literature since 1953.
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
UPA
URK
Chang-Davidson-Carlson syndrome
A rare endocrine disease characterized by hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Patients have decreased axillary and pubic hair growth, hypoplastic external genitalia, and small uterus and ovaries. No additional physical development abnormalities or intellectual deficiency are reported. There have been no further descriptions in the literature since 1981.
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
ICHYN
NIPA4
SLC57A6
ichthyin
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OXPHOS disease
Mitochondrial oxidative phosphorylation disorder
Europe AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 9.29 AND has_point_prevalence_range : 1-9 / 100 000
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.
A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts.
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Congenital diabetes mellitus
Diabetes of infancy
Monogenic diabetes of infancy
NDM
A group of rare diabetes mellitus characterized by neonatal diabetes mellitus presents with symptoms including hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis (which can be severe and lead coma), in a child within the first months of life. It encompasses several disorders in which diabetus mellitus may be transient or permanent. It may present as an isolated condition or as part of a syndrome.
Austria AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 1.12 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.
Worldwide AND has_cases/families_value : 230.0 (Case(s))
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Hypopituitarism-micropenis-cleft lip/palate syndrome
Kaplowitz-Bodurtha syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome
Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
HLHS
A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.
Austria AND has_birth_prevalence_average_value : 49.1 AND has_birth_prevalence_range : 1-5 / 10 000
Belgium AND has_birth_prevalence_average_value : 29.1 AND has_birth_prevalence_range : 1-5 / 10 000
China AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 15.1 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 19.9 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 9.9 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 16.4 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 9.2 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000
Switzerland AND has_birth_prevalence_average_value : 12.5 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000
A rare genetic multiple congenital anomalies syndrome characterized by mesomelic shortness of the forearms mainly due to bilateral symmetrical ulnar hypoplasia, bilateral clubfeet, anonychia congenita (absent toe and finger nails), limited knee and elbow movement, severe varus deformity and severe intellectual disability. There have been no further descriptions in the literature since 1995.
Ulna hypoplasia-intellectual disability syndrome
NON RARE IN EUROPE: MIDD
NON RARE IN EUROPE: Maternally-inherited diabetes and hearing loss
NON RARE IN EUROPE: Mitochondrial diabetes
NON RARE IN EUROPE: Maternally-inherited diabetes and deafness
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Sparse hair-short stature-skin anomalies syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
Thumb deformity-alopecia-pigmentation anomaly syndrome
Hereditary hemochromatosis type 3
A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.
ABSN
Acute bilateral striatal necrosis
Sporadic IBSN
Sporadic infantile striatonigral degeneration
Sporadic infantile striatonigral necrosis
Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Sporadic infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Familial infantile bilateral striatal necrosis
Schmitt-Gillenwater-Kelly syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
HVSL motif containing 1
HVSL1
Mpn1
U six biogenesis 1
mutated in poikiloderma with neutropenia protein 1
poikiloderma with neutropenia
LTBP-4
LTBP-4L
latent transforming growth factor beta binding protein 4
CSNB1C
LTRPC1
transient receptor potential cation channel subfamily M member 1
caspase recruitment domain family member 9
CD369
DECTIN-1
SCARE2
dectin-1
hDectin-1
O'Donnell-Pappas syndrome
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.
Foveal hypoplasia-presenile cataract syndrome
NELIN
nexilin
PPP1R88
protein phosphatase 1, regulatory subunit 88
glutaredoxin and cysteine rich domain containing 1
S10
eS10
40S ribosomal protein S26
S26
eS26
NET-2
ATP-dependent helicase SMARCA4
BAF190
BRG1
BRM/SWI2-related gene 1
SNF2
SNF2-BETA
SNF2-like 4
SNF2LB
SWI2
brahma protein-like 1
global transcription activator homologous sequence
hSNF2b
homeotic gene regulator
mitotic growth and transcription activator
nuclear protein GRB1
sucrose nonfermenting-like 4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
CEV14
GMAP-210
GMAP210
Trip230
golgi-microtubule-associated-protein of 210 kDa
inverted formin 2
inverted formin, FH2 and WH2 domain containing
Norman disease
PCH1
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing
Worldwide AND has_cases/families_value : 40.0 (Family(ies))
GPVI
platelet glycoprotein VI
PACHD
Pancreatic agenesis and congenital heart defects syndrome
Yorifuji-Okuno syndrome
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Saito-Kuba-Tsuruta syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Amino acid or protein metabolism disease with epilepsy
Metal transport or utilization disorder with epilepsy
Energy metabolism disorder with epilepsy
Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
Mitochondrial disease with peripheral neuropathy
Metabolic neurotransmission anomaly with epilepsy
Sterol metabolism disorder with epilepsy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary pulmonary hypoplasia
OBSOLETE: Congenital unilateral pulmonary hypoplasia
OBSOLETE: Familial essential thrombocythemia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Essential thrombocythemia
OBSOLETE: Inherited predisposition to essential thrombocythemia
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
PKU type 2
Phenylketonuria type 2
A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities.
Oligomeganephronic renal hypoplasia
A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.
CFEOM3
CFEOM3A
beta-4
class III beta-tubulin
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B
Ber-Ep4
BerEp4
CD326
CO-17A
EGP-2
EGP34
EGP40
ESA
Ep-CAM
HEA125
KS1/4
KSA
Ly74
MH99
MK-1
MOC-31
MOC31
TACST-1
TROP1
trophoblast cell surface antigen 1
MRX96
CLC2
ClC-2
EJM6
Eu-HMTase1
GLP
KIAA1876
KMT1D
euchromatic histone lysine methyltransferase 1
D4ST-1
HD4ST
Goldblatt-Wallis syndrome
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.
Hypospadias-intellectual disability, Goldblatt type syndrome
CD3-ZETA
CD3H
CD3Q
CD3ZETA
T-cell surface glycoprotein CD3 zeta chain
TCRZ
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.
Europe AND has_birth_prevalence_average_value : 33.3 AND has_birth_prevalence_range : 1-5 / 10 000
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
Europe AND has_point_prevalence_average_value : 37.5 AND has_point_prevalence_range : 1-5 / 10 000
Finland AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 58.62 AND has_birth_prevalence_range : 1-5 / 10 000
Secondary hypothyroidism
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Permanent congenital hypothyroidism
A rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.
Genetic transient congenital hypothyroidism
Lopes-Marques de Faria syndrome
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.
Hypotrichosis-intellectual disability, Lopes type
OBSOLETE: Sidransky-Feinstein-Goodman syndrome
OBSOLETE: Ichthyosis-cheek-eyebrow syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
A rare autosomal recessive syndrome with combined immunodeficiency characterized by the clinical triad of immunodeficiency, centromeric instability and facial anomalies (abbreviated ICF syndrome). The immunodeficiency is with panhypogammaglobulinemia, and a lack of memory (CD19+CD27+) B cells in the peripheral blood, although B and T-cell counts are normal. Anomalies and rearrangements associated with DNA hypomethylation in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9, in mitogen-stimulated lymphocytes, is a hallmark of the syndrome. The typical facial anomalies include hypertelorism, low-set ears, epicanthus and macroglossia.
Worldwide AND has_cases/families_value : 66.0 (Case(s))
Jagell-Holmgren-Hofer syndrome
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.
Worldwide AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000
RFT2
RFVT3
hRFT2
hypothetical protein LOC113278
CCT
MFSD7C
SLC49A2
FLVCR choline and putative heme transporter 2
HHM
PLP
PTHR
PTHRP
osteostatin
parathyroid hormone-like hormone preproprotein
parathyroid hormone-related protein preproprotein
slow skeletal-type muscle myosin-binding-protein C
ssMyBP-C
APP3
ICP55
Intermediate Cleaving Peptidase 55
NPHPL1
CGL4
cavin-1
congenital generalized lipodystrophy 4
SPE-39
SPE39
Spermatogenesis-defective protein 39 homolog
VIPAR
VPS16B
VPS33B interacting protein, apical-basolateral polarity regulator
hSPE-39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
HSP47
collagen binding protein 1
colligen
colligin
heat shock protein 47
Congenital ichthyosis-microcephalus-quadriplegia syndrome
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Hunc18b
MUNC18-2
UNC18B
Unc18-2
Clayton Smith-Donnai syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, skeletal and digital anomalies (including flexion deformities of the large joints, proximal interphalangeal joints, absent distal flexion crease of fingers, tapering fingers, hypoplastic toes and nails, dislocatable ankles) and facial dysmorphism (including short forehead, epicanthic folds, small mouth with thin upper lip, midline lower lip groove, and fullness of the lateral eyelids, cleft palate can also be present). Additional clinical features may include developmental delay, generalized hypotonia, feeding difficulties, recurrent chest and gastrointestinal infections. There have been no further descriptions in the literature since 1989.
Ichthyosis-oral and digital anomalies syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
A rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
Ichthyosis follicularis-alopecia-photophobia syndrome
BLK proto-oncogene, Src family tyrosine kinase
HSPL27
heat shock protein family B (small) member 3
NAPI-3
NPTIIa
Na+-phosphate cotransporter type II
SLC11
sodium/phosphate co-transporter
solute carrier family 17 (sodium phosphate), member 2
phosphatidylinositol phosphatase PTPRQ
protein tyrosine phosphatase receptor type Q
Dykes-Marks-Harper syndrome
A rare genetic neurologic syndrome characterized by the triad of ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia that presents with progressive dysarthria, unsteadiness of gait. Ichthyosis usually manifests with marked hyperkeratosis, affecting the hands, arms and legs, primarily on the extensor surfaces of the limbs. The severity of ataxia and disability of limb movements are variable. Upward vertical gaze palsy, sluggish reflexes and impaired memory may also be present. There have been no further descriptions in the literature since 1979.
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
HRG4
POC7
POC7 centriolar protein homolog A (Chlamydomonas)
POC7A
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).
Multiple system atrophy, cerebellar type
NON RARE IN EUROPE: Familial breast cancer
NON RARE IN EUROPE: Familial breast carcinoma
NON RARE IN EUROPE: Hereditary breast carcinoma
NON RARE IN EUROPE: Hereditary breast cancer
OBSOLETE: Hereditary flecked retinopathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare genetic retinal disorder
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Passwell-Goodman-Siprkowski syndrome
A rare multiple congenital anomalies syndrome characterized by nonbullous congenital ichthyosis (skin lesions are predominantly detected on the back and extensor surfaces of the limbs, including the flexures; the face is not affected), moderate intellectual disability, dwarfism and renal impairment. Moderate hirsutism may also be present. No significant facial dysmorphism has been reported. There have been no further descriptions in the literature since 1975.
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.
Worldwide AND has_cases/families_value : 20000.0 (Case(s))
A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.
Autosomal recessive optic atrophy, OPA7 type
APS type 3
APS3
Autoimmune polyendocrine syndrome type 3
Autoimmune polyglandular syndrome type 3
A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.
APS type 4
APS4
Autoimmune polyendocrine syndrome type 4
Autoimmune polyglandular syndrome type 4
A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.
Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
T-B+NK+ SCID due to CORO1A deficiency
T-B+NK+ SCID due to coronin-1A deficiency
T-B+NK+ severe combined immunodeficiency due to coronin-1A deficiency
A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).
T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency
Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females.
Europe AND has_point_prevalence_average_value : 18.3 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000
Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.
Fusarium infection
Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.
California disease
Coccidioides infection
Desert fever
Desert rheumatism
San Joaquin valley fever
Valley fever
Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.
A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.
Acute multiple sclerosis, Marburg type
Acute multiple sclerosis, Marburg variant
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.
Concentric demyelination
A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.
ADSD
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.
Autosomal dominant striatal neurodegeneration
CMT2N
A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2N
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Atriodigital dysplasia
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.
Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. There have been no further descriptions in the literature since 1999.
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Dysmorphism-short stature-deafness-disorder of sex development syndrome
Dysmorphism-short stature-hearing loss-disorder of sex development syndrome
Ieshima-Koeda-Inagaki syndrome
A rare multiple congenital anomalies syndrome characterized by craniofacial dysmorphism (including microcephaly, facial asymmetry, arched eyebrows, hypertelorism, ptosis, broad and flat nasal bridge, small nose, inverted nostrils, cleft palate, microtia, micrognathia, and short neck), deafness, male pseudohermaphroditism and severe intellectual disability. Additional clinical features include intrauterine growth restriction, feeding difficulty, growth failure, pulmonary hypertension, patent ductus arteriosus, hypotonia, brisk tendon reflexes, repeated respiratory infections and persistent hypoxemia. There have been no further descriptions in the literature since 1986.
Dysmorphism-short stature-deafness-difference of sex development syndrome
Acquired dermis elastic tissue disorder with decreased elastic tissue
Acquired dermis elastic tissue disorder with increased elastic tissue
PXE-like late-onset focal dermal elastosis
Pseudoxanthoma-like late-onset focal dermal elastosis
Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.
Elastotic striae
Linear focal dermal elastosis
Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.
An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.
Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.
Acquired Gronblad-Strandberg-Touraine syndrome
Acquired PXE
A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.
Juvenile elastoma without osteopoikilosis
Nevus elasticus
Weidman juvenile elastoma
A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.
A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.
Primary macular atrophy
Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.
Hereditary anetoderma
Hereditary macular atrophy
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.
Worldwide AND has_cases/families_value : 12.0 (Family(ies))
Cutis laxa acquisita
A rare disorder of the connective tissue characterized by skin inflammation inducing elastolysis, leading to sudden, progressive fine skin wrinkling, and variable systemic involvement.
Worldwide AND has_cases/families_value : 110.0 (Case(s))
White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.
PXE-like papillary dermal elastolysis
Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.
Pseudoxanthoma elasticum-like papillary dermal elastolysis
A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.
Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Carnitine palmitoyl transferase II deficiency, neonatal form
Cold AIHA
cAHA
cAIHA
Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30 °C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Idiopathic hypersomnia
OBSOLETE: Idiopathic hypersomnia with long sleep time
OBSOLETE: Idiopathic hypersomnia without long sleep time
NCL1
Neuronal ceroid lipofuscinosis type 1
A rare neuronal ceroid lipofuscinosis characterized by developmental delay, psychomotor regression, hypotonia, seizures, ataxia, movement disorders and visual impairment. It may present classically with infantile-onset (6-18 months) however late infantile (18 months-4 years), juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both infantile/late infantile onset patients, manifesting with progressive and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late infantile form) and brain atrophy. Infantile form is characterized by a short lifespan preceeded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.
NCL10
Neuronal ceroid lipofuscinosis type 10
A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using CLN6 disease
NCL4
Neuronal ceroid lipofuscinosis type 4
A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) progressive generalized tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.
Neuronal ceroid lipofuscinosis type 3
A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset progressive vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), seizures, progressive cognitive impairment with a precipitous decline to dementia, progressive motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar myopathy. Seizures in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized epilepsy syndrome and progressive neurologic deterioration, seizures and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.
NCL2
Neuronal ceroid lipofuscinosis type 2
A rare neuronal ceroid lipofuscinosis characterized by neurodevelopmental delay, impaired motor and language skills, progressive dementia, visual deterioration, extrapyramidal signs, progressive gait dysfunction, seizures and brain atrophy. It may present rarely with infantile (2-18 months), classically late infantile (2-4 years) and juvenile-onset (6-10 years). Infantile-onset and late infantile-onset patients are reported to have rapid disease progression leading to complete loss of motor function within 6 years and may be fatal, whereas juvenile onset patients were reported to have milder clinical features including mild learning disability, behavior abnormalities associated with dementia and progressive cognitive function regression. Extrapyramidal, cerebellar signs, retinal degeneration and vision loss may be observed later in the adulthood. This form is most frequently observed in Southern Europe.
Worldwide AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000
NCL8
Neuronal ceroid lipofuscinosis type 8
A rare neuronal ceroid lipofuscinosis characterized classically by late infantile-onset (5-10 years) with rapid disease progression, myoclonus, visual loss and progressive intellectual disability (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial seizures without myoclonous, progressive intellectual disability and variable visual deficit, blindness being infrequent. This condition, also known as Northern epilepsy, is milder and slow progressing compared to the classical form of the disease.
NCL5
Neuronal ceroid lipofuscinosis type 5
A rare neuronal ceroid lipofuscinosis characterized by developmental and motor delay/regression, psychomotor and cognitive regression, seizures, ataxia, and visual impairment. It may present classically with late infantile-onset, however juvenile or adult-onset has been also described. Patients with late infantile onset have early language and learning impairment whereas loss of vision and seizures appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. Seizures can be absent. In the adult onset patients first symptoms become evident around 20 years of age.
NCL6
Neuronal ceroid lipofuscinosis type 6
A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.
Worldwide AND has_cases/families_value : 125.0 (Case(s))
NCL7
Neuronal ceroid lipofuscinosis type 7
A rare neuronal ceroid lipofuscinosis characterized by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.
Intoxication botulism
Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.
Romania AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
AR-CMT2B5
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
SEOAN due to NEFL deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
Cyclosporine-induced folliculodystrophy
Pilomatrix dysplasia
Trichodysplasia spinulosa
VATS
Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.
Virus-associated trichodysplasia spinulosa
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion
Monosomy 5q14.3
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
A rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.
Spondylo-megaepiphyseal-metaphyseal dysplasia
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.
Frontonasal dysplasia-alopecia-genital anomalies syndrome
A rare ophtalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Dup(8)(q12)
Trisomy 8q12
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary immunodeficiency due to a defect in adaptive immunity
OBSOLETE: Primary T cell immunodeficiency
Monosomy 2q23.1
Pseudo-Angelman syndrome
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
TMCO1 defect syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cerebrofaciothoracic dysplasia
Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome
PHD syndrome
Polyvalvular heart disease syndrome
TAB2-related syndrome
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Dup(5)(q35)
Trisomy 5q35
A rare partial duplication of the long arm of chromosome 5 characterized by low birth weight, developmental delay, intellectual disability, microcephaly, short stature, and behavioral problems. Variable digital, urogenital, cardiac and gastrointestinal anomalies can sometimes occur, as well as variable unremarkable facial dysmorphism. Other signs migh include vision/eye anomalies and delayed bone age.
OBSOLETE: MCSZ
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Early infantile epileptic encephalopathy
OBSOLETE: Microcephaly-seizures-developmental delay syndrome
GATA binding protein 2 deficiency spectrum
A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.
A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Syndromic multisystem autoimmune disease due to Itch deficiency
BSCL type 4
Berardinelli-Seip syndrome type 4, BSCL type 4
GCL4
Congenital generalized lipodystrophy type 4
Bull-Nixon syndrome
A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction.
OBSOLETE: SMMCI
OBSOLETE: Single upper central incisor
OBSOLETE: Solitary median maxillary central incisor syndrome
Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
Annuloaortic ectasia
Cystic medial necrosis of aorta
Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.
Worldwide AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease
Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.
Worldwide AND has_cases/families_value : 137.0 (Case(s))
A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Campomelic dysplasia and related disorders
OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome
Familial joint instability syndrome
Familial joint laxity
Joint instability syndrome
A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.
Familial articular hypermobility syndrome
A rare insulin-resistance syndrome characterized by marked hyperinsulinemia, frequently associated with glucose tolerance abnormalities or diabetes, acanthosis nigricans, and hyperandrogenism in females.
Non-syndromic hypogammaglobulinemia
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
FANCO
RAD51L2
PNK
bifunctional polynucleotide phosphatase/kinase
K6IRS4
KRT5C
KRT6IRS4
A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.
CD309
FLK1
VEGFR
VEGFR2
fetal liver kinase 1
vascular endothelial growth factor receptor 2
A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
Europe AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.
Austria AND has_birth_prevalence_average_value : 1.05 AND has_birth_prevalence_range : 1-9 / 100 000
Finland AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000
DBH deficiency
A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
Worldwide AND has_birth_prevalence_average_value : 4.05 AND has_birth_prevalence_range : 1-9 / 100 000
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Worldwide AND has_cases/families_value : 43.0 (Case(s))
Asbestosis
A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.
Isotretinoin embryopathy
Retinoic acid embryopathy
Retinoids embryopathy
A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.
Kawashima syndrome
Microtia-aortic arch syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including small, malformed or missing ears, micrognathia, and cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies including hydrocephalus and posterior fossa abnormalities. Clinical features overlap with isotretinoin syndrome/isotretinoin embryopathy, occurs following maternal treatment with isotretinoin, however these patients have no prenatal history of exposure to isotretinoin.
Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.
United States AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
Toxin-mediated infective botulism
Infectious botulism is a form of botulism, a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).
Classical-like EDS type 1
Ehlers-Danlos syndrome due to tenascin-X deficiency
clEDS type 1
A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
Classical-like Ehlers-Danlos syndrome type 1
COL1A1-cEDS
Classic EDS-like with a propensity for arterial rupture
Classical EDS due to COL1A1 p.(Arg312Cys)
Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)
Vascular-like classical EDS
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classical Ehlers-Danlos syndrome
Vascular-like classical Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
EDS/OI syndrome
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Ehlers-Danlos/osteogenesis imperfecta syndrome
A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa.
Worldwide AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000
Dracunculosis
Guinea worm disease
Medina worm disease
Medinensis
Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.
Absence deformity of leg-cataract syndrome
Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).
Lane disease
Red palms disease
Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.
Familial lentigines profusa
Familial multiple lentigines syndrome without systemic involvement
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.
Europe AND has_point_prevalence_average_value : 36.0 AND has_point_prevalence_range : 1-5 / 10 000
High-grade dysplasia in patients with Barrett esophagus
Jarcho-Levin syndrome
A rare genetic axial skeletal dysostosis characterized by multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs (malalignment, intercostal fusion and possible reduction in rib number), leading to short trunk in proportion to height, short neck and non-progressive scoliosis that is typically mild.
Autosomal recessive spondylocostal dysostosis
RTPS
DILE
A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydralazine are the drugs most frequently implicated.
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Silver-Russell syndrome due to 7p11.2-p13 microduplication
Silver-Russell syndrome due to dup(7)(p11.2p13)
Silver-Russell syndrome due to trisomy 7p11.2-p13
Silver-Russell syndrome due to trisomy 7p11.2p13
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
UPD(11)mat
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Atypical/leaky SCID due to partial RAG defect
Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Atypical/leaky severe combined immunodeficiency due to partial RAG defect
Familial berry aneurysm
Familial intracranial saccular aneurysm
A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.
USH1
A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.
USH2
A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.
Denmark AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000
USH3
A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.
Denmark AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
Specific population AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000
Lucey-Driscoll syndrome
A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.
Transient familial neonatal hyperbilirubinemia
CVID without known genetic defect
Common variable immunodeficiency without known genetic defect
Beta transfusion dependent thalassemia
Beta-TDT
Cooley anemia
Mediterranean anemia
Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
Bahrain AND has_point_prevalence_average_value : 160.0 AND has_point_prevalence_range : >1 / 1000
Oman AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000
Beta-NTDT
Non-transfusion dependent beta-thalassemia
Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Autosomal dominant beta-thalassemia
Inclusion body beta-thalassemia
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.
Unstable beta globin chain variant disease
Beta-thalassemia associated with another Hb anomaly
Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia].
Beta-thalassemia associated with another hemoglobin anomaly
Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
C-beta-thalassemia
HbC-beta-thalassemia syndrome
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.
E-beta-thalassemia
HbE-beta-thalassemia syndrome
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.
Beta-thalassemia-trichothiodystrophy syndrome
Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder.
WNT-5A protein
hWNT5A
XLTT
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
Beta-thalassemia-X-linked thrombocytopenia syndrome
KIAA0437
SEB
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
ATMDS
Acquired HbH disease
Acquired hemoglobin H disease
An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
Alpha-thalassemia-myelodysplastic syndrome
Variant of GBS
Regional variant of GBS
Regional variant of Guillain-Barré syndrome
Functional variant of GBS
Functional variant of Guillain-Barré syndrome
FREAC6
PCB variant of GBS
PCB variant of Guillain-Barré syndrome
Pharyngeal-cervical-brachial weakness
Pharyngo-cervico-brachial variant of GBS
Pharyngo-cervico-brachial variant of Guillain-Barré syndrome
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Paraparetic variant of GBS
Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.
Paraparetic variant of Guillain-Barré syndrome
Acute pure sensory GBS
Acute pure sensory Guillain-Barré syndrome
A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.
Acute panautonomic GBS
Acute panautonomic Guillain-Barré syndrome
Acute panautonomic neuropathy
A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.
ASAN
Acute sensory ataxic GBS
Acute sensory ataxic Guillain-Barré syndrome
A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.
BAFFR
CD268
JBS
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
HPS with pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis
A form of Hermansky-Pudlak syndrome characterized by oculocutaneous albinism, bleeding diathesis and pulmonary fibrosis or granulomatous colitis, but without neutropenia. Hermansky-Pudlak syndrome due to BLOC-3 deficiency has a severe prognosis and includes two genetic etiologies (HPS1 and HPS4).
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
HPS without pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis
A form of Hermansky-Pudlak syndrome characterized by syndromic ocular or oculocutaneous albinism which may present with bleeding diathesis and, in some cases, granulomatous colitis, but without neutropenia or pulmonary fibrosis as a complication.
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
GPI3
GPI3 (SPT14) homolog (S. cerevisiae)
PIG-A
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
paroxysmal nocturnal hemoglobinuria
phosphatidylinositol glycan anchor biosynthesis class A
A form of Hermansky-Pudlak syndrome characterized by syndromic ocular or oculocutaneous albinism which may present with bleeding diathesis, and in some cases granulomatous colitis or immunodeficiency, but no pulmonary fibrosis.
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Late-onset localized JEB-intellectual disability syndrome
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Generalized DDEB
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Autosomal dominant generalized dystrophic epidermolysis bullosa
CEVD
Congenital erosive and vesicular dermatosis with reticulated supple scarring
A rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.
Congenital erosive and vesicular dermatosis
PUAH
Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.
Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
Alopecia-anosmia-deafness-hypogonadism syndrome
Johnson-McMillin syndrome
A rare neuroectodermal syndrome characterized by hypotrichosis/alopecia, hyposmia/anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism, and a greater than normal tendency to dental caries. Some patients may also present with mild facial asymmetry, cleft palate, facial nerve palsy, congenital heart defect, multiple truncal café-au-lait spots, and developmental delay/intellectual deficiency.
DAAO
DAMOX
Pure APAC
Pure aldosterone-producing adrenocortical carcinoma
Pure aldosterone-secreting adrenocortical carcinoma
A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.
Adrenocortical carcinoma with pure aldosterone hypersecretion
Extra-adrenal aldosterone-producing tumor
Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.
A rare primary hyperaldosteronism characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.
Rare surgically correctable form of primary aldosteronism
Rare non surgically correctable form of primary aldosteronism
Congenital IGHD type IA
Congenital isolated GH deficiency type IA
Congenital isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IA
Congenital IGHD type IB
Congenital isolated GH deficiency type IB
Congenital isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type IB
Congenital IGHD type II
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type II
Isolated growth hormone deficiency type II
Congenital IGHD type III
Congenital isolated GH deficiency type III
Congenital isolated growth hormone deficiency type III
X-linked IGHD
X-linked isolated growth hormone deficiency
Isolated growth hormone deficiency type III
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
MPPC syndrome
A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Epibulbar lipodermoid  preauricular appendages  polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
Homozygous hemoglobin S
Homozygous sickle cell anemia SS
A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.
Belgium AND has_birth_prevalence_average_value : 47.5 AND has_birth_prevalence_range : 1-5 / 10 000
Brazil AND has_annual_incidence_average_value : 21.6262 AND has_annual_incidence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 42.0 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000
Guadeloupe AND has_birth_prevalence_average_value : 344.8 AND has_birth_prevalence_range : >1 / 1000
Guyana AND has_birth_prevalence_average_value : 467.3 AND has_birth_prevalence_range : >1 / 1000
Martinique AND has_birth_prevalence_average_value : 248.75 AND has_birth_prevalence_range : >1 / 1000
Reunion AND has_birth_prevalence_average_value : 20.15 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 41.7 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 32.8 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
OPA7
optic atrophy 7
DPL1
DPPX
AlaRS
alanine tRNA ligase 1, cytoplasmic
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.
Australia AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000
New Zealand AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000
NKX3.2
NKX3B
Ca(2+) load-activated Ca(2+) channel
AIP4
BRAG1
IQ-ArfGEF
KIAA0522
brefeldin A resistant Arf-guanine nucleotide exchange factor 1
This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).
Syndrome with alpha-thalassemia as a major feature
HRD syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Richardson-Kirk syndrome
SSS
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.
Kaler-Garrity-Stern syndrome
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
Osteopenia-intellectual disability-sparse hair syndrome
EBS with anodontia/hypodontia
Kallin syndrome
A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.
Epidermolysis bullosa simplex with anodontia/hypodontia
Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Kallmann syndrome-heart disease syndrome
Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, facial dysmorphism (low-set and malformed ears, bulbous nasal tip, low hanging columella, bilateral cleft lip and palate), eye anomalies (microophthalmia, coloboma), intestinal abnormalities and heart defects.
Split hand/split foot-nystagmus syndrome
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.
Haemangioma-thrombocytopenia syndrome
Hemangioma-thrombocytopenia syndrome
A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma.
RP54
CAP
PTI
cytoplasmic antiproteinase
placental thrombin inhibitor
DXS8237E
G-patch domain containing 9
GPATC9
GPATCH9
KIAA0122
ZRANB5
zinc finger RANBP2-type containing 5
CLSS
LRP-4
MEGF7
SOST2
multiple EGF like domains 7
FKBP6
FKBP65
hFKBP65
AGRIN
Mucocutaneous lymph node syndrome
A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.
C/EBP-alpha
HBG-T2
fetal hemoglobin F subunit gamma 1
HBG-T1
fetal hemoglobin F subunit gamma 2
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.
Worldwide AND has_cases/families_value : 164.0 (Case(s))
Kenny syndrome
A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.
Worldwide AND has_cases/families_value : 65.0 (Case(s))
Hereditary keratitis
A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.
NON RARE IN EUROPE: Isolated keratoconus
Diffuse palmoplantar keratoderma, Bothnia type
NEPPK, Bothnia type
NEPPK, Bothnian type
A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.
Diffuse palmoplantar keratoderma, Bothnian type
Isolated punctate PPK
Isolated punctate palmoplantar hyperkeratosis
Isolated punctate palmoplantar keratoderma
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Dubin-Sprinz disease
Hyperbilirubinemia type 2
Sprinz-Nelson syndrome
A rare metabolic liver disease characterized clinically by a benign, chronic, predominantly conjugated hyperbilirubinemia, and histopathologically by black-brown pigment deposition in parenchymal liver cells.
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
Keratosis follicularis spinulosa decalvans
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic non-specific multisutural craniosynostosis
OBSOLETE: Isolated cloverleaf skull syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Europe AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000
OBSOLETE: Klippel-Trénaunay-Weber syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare vascular anomaly
OBSOLETE: Angioosteohypertrophic syndrome
A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
Familial partial lipodystrophy, Dunnigan type
Hoffmann syndrome
Kocher-Debré-Semelaigne syndrome
Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.
Muscular pseudohypertrophy-hypothyroidism syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Sacral meningocele-conotruncal heart defects syndrome
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.
CIR
G protein-activated inward rectifier potassium channel 4
GIRK4
KATP1
Kir3.4
LQT13
potassium inwardly rectifying channel subfamily J member 5
alpha-fodrin
HPA2
HPR2
TAPA-1
TSPAN28
Tetraspanin-28
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Shprintzen-Goldberg syndrome
crystallin, gamma 8
CFAP80
FAP80
SPG
WDR10p
WDR140
BRSS
Hypotelorism-cleft palate-hypospadias syndrome
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.
Nail dysplasia-camptodactyly-brachydactyly type B syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cooks syndrome
E1A enhancer binding protein
E1A-F
E1AF
PEA3
Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Congenital vascular bone syndrome
OBSOLETE: Congenital vascular bone syndrome with limb overgrowth
OBSOLETE: Congenital vascular bone syndrome with limb shortening
A group of rare primary aldosteronism characterized by hyperaldosteronism, hypertension, hypokalemia and low plasma renin activity. Clinical symptoms and their severity vary according to the type of hyperaldosteronism and may include abnormal production of 18-oxocortisol and 18-hydroxycortisol, headaches, nausea, fatigue, muscle weakness, cardiovascular complications due to aldosterone excess, polydipsia, polyuria, bilateral adrenal hyperplasia, developmental delay, learning disabilities and behavioral abnormalities.
Duplication 9p
Duplication of the short arm of chromosome 9
Trisomy of the short arm of chromosome 9
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.
GSD due to lactate dehydrogenase deficiency
Glycogenosis due to lactate dehydrogenase deficiency
LDH deficiency
A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.
Glycogen storage disease due to lactate dehydrogenase deficiency
OSX
osterix
CMS
Cas ligand with multiple Src homology (SH) 3 domains
Laparoschisis
A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.
Austria AND has_birth_prevalence_average_value : 29.4 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 17.7 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 41.6 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000
Malta AND has_birth_prevalence_average_value : 25.8 AND has_birth_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 36.0 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000
Portugal AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000
Switzerland AND has_birth_prevalence_average_value : 12.3 AND has_birth_prevalence_range : 1-5 / 10 000
Ukraine AND has_birth_prevalence_average_value : 9.5 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 36.3 AND has_birth_prevalence_range : 1-5 / 10 000
Body stalk anomaly
LBWC syndrome
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.
Australia AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000
B-cell antigen receptor complex-associated protein beta chain
B29
Ig-beta
Igbeta
B cell adaptor containing SH2 domain
B-cell activation
B-cell adapter containing a SH2 domain protein
BASH
BLNK-s
Ly57
SLP-65
SLP65
Src homology [SH2] domain-containing leukocyte protein of 65 kD
bca
A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
Larsen-like osseous dysplasia-short stature syndrome
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.
A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.
Worldwide AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : <1 / 1 000 000
A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.
Worldwide AND has_annual_incidence_average_value : 40.0 AND has_annual_incidence_range : 1-5 / 10 000
A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords.
Plott syndrome
A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.
Laryngeal abductor paralysis-intellectual disability syndrome
LMS
A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.
Mirror hands and feets-nasal defects syndrome
Sandrow syndrome
Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.
Laxova-Opitz syndrome
Waisman syndrome
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.
Early-onset parkinsonism-intellectual disability syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic intestinal malformation
Aseptic necrosis of the capital femoral epiphysis
Osteochondrosis of the capital femoral epiphysis
Perthes disease
A rare osteochondrosis characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.
A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.
Apolipoprotein A-II amyloidosis
Familial amyloid nephropathy due to apolipoprotein A-II variant
Familial renal amyloidosis due to apolipoprotein A-II variant
Hereditary amyloid nephropathy due to apolipoprotein A-II variant
Hereditary renal amyloidosis due to apolipoprotein A-II variant
A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.
A type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
Severe X-linked mitochondrial encephalomyopathy
15q11q13 duplication syndrome
Dup(15)(q11q13)
Trisomy 15q11q13
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
DTDS
Dopamine transporter deficiency syndrome
IPD
PKDYS
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.
Europe AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000
Hereditary hypercholanemia
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
Autosomal recessive lymphoproliferative disease due to CD27 deficiency
CD27 deficiency
A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.
Combined immunodeficiency due to CD27 deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Inherited cancer-predisposing lymphoproliferative syndrome
Atypical HCS
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
Congenital secondary polycythemia
SKI complex component SKI3 (S. cerevisiae)
SKI3
THES
thespin
OBSOLETE: Acquired secondary erythrocytosis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Polycythemia
OBSOLETE: Acquired secondary polycythemia
Chuvash polycythemia
VHL-related erythrocytosis
VHL-related polycythemia
Von Hippel-Lindau-related erythrocytosis
Von Hippel-Lindau-related polycythemia
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
IL10-related early-onset IBD
IL10-related early-onset inflammatory bowel disease
A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
Familial clubfoot due to 17q23.1q23.2 microduplication
Hyperphenylalaninemia due to BH4 deficiency
A disorder of pterin metabolism characterized by tetrahydrobiopterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.
Brazil AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000
Japan AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Isolated mesenteric lipodystrophy
Lipomatous mesenteritis
Liposclerotic mesenteritis
Mesenteric lipogranuloma
Mesenteric panniculitis
Sclerosing mesenteritis
Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
Leukoencephalopathy-palmoplantar keratoderma syndrome
POT
A rare tremor disorder characterized by an isolated high frequency (>12 Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing.
Worldwide AND has_cases/families_value : 390.0 (Case(s))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Sotos syndrome
OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation
A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient.
Ileal pouch anal anastomosis related faecal incontinence
Benign intracranial hypertension
IIH
Pseudotumor cerebri
Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.
Megaureter-megacystis syndrome
Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.
Congenital primary megaureter, obstructed form
Congenital primary megaureter, refluxing form
Congenital primary megaureter, nonrefluxing and unobstructed form
Gonadotropic deficiency
Isolated congenital gonadotropin deficiency
Isolated gonadotropin-releasing hormone deficiency
A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).
Isolated congenital hypogonadotropic hypogonadism
Isolated TRF deficiency
Isolated TRH deficiency
Isolated TSH-releasing factor deficiency
Isolated prothyroliberin deficiency
Isolated protirelin deficiency
Isolated thyroliberin deficiency
Isolated thyrotropin-releasing factor deficiency
Isolated thyrotropin-releasing hormone deficiency
Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.
OBSOLETE: Congenital hepatic hemangioma
Transient congenital hypothyroidism due to maternal factor
Transient congenital hypothyroidism due to neonatal factor
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.
MDN syndrome
Onycho-digito-mammary syndrome
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
Del(4)(q21)
Monosomy 4q21
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
OBSOLETE: LGMD1H
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Progressive muscular dystrophy
OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H
Megalocornea-spherophakia-secondary glaucoma syndrome
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 8q21.11 microdeletion syndrome
Ptosis-syndactyly-learning difficulties syndrome
Del(1)(q44)
Monosomy 1q44
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
Cleft lip/palate-ectrodactyly syndrome
HA6116
HD4
HDAC-4
HDAC-A
HDACA
KIAA0288
RP57
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)
A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.
IPM200
RP56
SPACRCAN
interphotoreceptor matrix proteoglycan 2
ALL1-related
ALR
CAGL114
MLL4
histone-lysine N-methyltransferase 2D
DERMO1
Dermo-1
bHLHa39
twist family bHLH transcription factor 2
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.
Congenitally short costocoracoid ligament
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Haberland syndrome
A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.
Worldwide AND has_cases/families_value : 77.0 (Case(s))
Cephalothoracic lipodystrophy
Familial benign cervical lipomatosis
Launois-Bensaude lipomatosis
Madelung disease
A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
Italy AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
SPI-B
IL-12, subunit p35
IL-12A
IL35 subunit
NF cell stimulatory factor chain 1
NFSK
cytotoxic lymphocyte maturation factor 1, p35
interleukin 12, p35
interleukin-12 alpha chain
natural killer cell stimulatory factor 1, 35 kD subunit
p35
IRF-5
IPO12
MTR10A
TRN-SR
TRN-SR2
importin 12
NEPII
NL1
NL2
SEP
neprilysin 2
neprilysin-II
CCAAT-binding transcription factor
NF1A
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
DFNA65
KIAA1171
TBC/LysM-associated domain containing 6
TLDC6
deafness, autosomal dominant 65
skywalker homolog (Drosophila)
CFAP118
FAP118
IFT121
IFTA1
KIAA1336
PPP1R115
phosphatase 1, regulatory subunit 115
tight junction protein occludin TM4 minus
RP58
Zfp513
ABHD12A
BEM46L2
abhydrolase domain containing 12, lysophospholipase
Fumarase deficiency
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
Léri-Weill syndrome
A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
Lisker-Garcia-Ramos syndrome
A rare peripheral motor neuropathy characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, and autonomic dysfunction, manifesting as profuse sweating, cold-induced distal cyanosis, orthostatic hypotension, and esophageal achalasia. There have been no further descriptions in the literature since 1981.
Peripheral motor neuropathy-dysautonomia syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.
Classic progressive supranuclear palsy syndrome
PSP-p
PSP-parkinsonism
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.
Progressive supranuclear palsy-predominant parkinsonism syndrome
PSP-PAGF
PSP-pure akinesia with gait freezing
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-CBS
PSP-corticobasal syndrome
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.
Progressive supranuclear palsy-corticobasal syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-Langerhans cell histiocytosis
OBSOLETE: Systemic non-Langerhans cell histiocytosis
Loiasis is a form of filariasis, caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.
Escher-Hirt syndrome
Thickened earlobes-conductive hearing loss syndrome
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
Thickened earlobes-conductive deafness syndrome
LIS
Pseudocoma
A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders.
LGN
Pins
CGI-04
mt-TyrRS
tyrosine tRNA ligase 2, mitochondrial
EKLF
erythroid Kruppel-like factor
KIAA0912
MCPH9
SCKL5
asterless
M33
Pc class homolog (Drosophila)
MRG1
Cbp/p300 interacting transactivator with ED-rich tail 2
LOC syndrome
LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Shabbir syndrome
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
Microcephaly and chromosomal instability without immunodeficiency
NBS-like disorder
NBSLD
RAD50 deficiency
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
Nijmegen breakage syndrome-like disorder
Deafness-nephritis-ano-rectal malformation syndrome
Hearing loss-nephritis-ano-rectal malformation syndrome
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.
Lubinsky syndrome
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.
Hypergonadotropic hypogonadism-cataract syndrome
Collins-Pope syndrome
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
Dislocation of the hip-dysmorphism syndrome
Pulmonary lymphangiomatosis
A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.
Lymphangioma
Europe AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000
Congenital primary lymphedema without systemic or visceral involvement
HsT422
TMS
Tsase
LST-1
OATP-C
OATP1B1
solute carrier organic anion transporter family member 1B1
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).
RAD50-2
hRad50
RAD50 double strand break repair protein
DHDPS2
N-acetylneuraminate pyruvate lyase 2 (putative)
NPL2
dihydrodipicolinate synthetase homolog 2 (E. coli)
DISPA
dispatched RND transporter family member 1
Volcke-Soekarman syndrome
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.
Macrocephaly-short stature-paraplegia syndrome
Fryns macrocephaly
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Macrocephaly-spastic paraplegia-dysmorphism syndrome
RNF55
c-Cbl
oncogene CBL2
3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
SRD5A2L
SRD5A2L1
polyprenol reductase
Friedreich ataxia region gene X104 (tight junction protein ZO-2)
ZO-2
ZO2
zona occludens 2
COXPD7
SPG55
mtRF-R
mitochondrial translation release factor in rescue
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.
A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.
United States AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bilateral perisylvian polymicrogyria
Teebi-Al Saleh-Hassoon syndrome
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
Macrosomia-microphthalmia-cleft palate syndrome
DMG dehydrogenase deficiency
DMGDH deficiency
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Dimethylglycine dehydrogenase deficiency
AFLP
A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.
NON RARE IN EUROPE: Insulin-dependent diabetes mellitus
NON RARE IN EUROPE: Diabetes mellitus type 1
Westerhof-Beemer-Cormane syndrome
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
Split hand-urinary anomalies-spina bifida syndrome
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987.
NON RARE IN EUROPE: Essential hypertension
HFGS
Hand-foot-uterus syndrome
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
Patterson-Stevenson syndrome
Split foot deformity-mandibulofacial dysostosis syndrome
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
Europe AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
Pakistan AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000
Ectrodactyly
SHFM
Split hand foot malformation
A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.
Canada AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000
China AND has_birth_prevalence_average_value : 16.4 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 5.4 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000
Isolated split hand-split foot malformation
Duncan disease
Purtilo syndrome
China AND has_point_prevalence_average_value : 0.0347 AND has_point_prevalence_range : <1 / 1 000 000
Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000
KIAA1461
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.
A rare renal disease characterized by thrombotic microangiopathy developing de novo in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections, and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury.
De novo thrombotic microangiopathy after kidney transplantation
ME2GLYDH
BASM syndrome
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
Biliary atresia with splenic malformation syndrome
Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
OXPHOS disease due to nDNA anomalies
OXPHOS disease due to nuclear DNA anomalies
A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
CDG syndrome type In
CDG-In
CDG1N
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Man5GlcNAc2-PP-Dol flippase deficiency
RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
EBP50
NHE-RF
NHERF
NHERF-1
Na(+)/H(+) exchange regulatory cofactor 1
ezrin-radixin-moesin-binding phosphoprotein 50
BBS16
Bardet-Biedl syndrome 16
CCCAP
NPHP10
NY-CO-8
SLSN7
Senior-Loken syndrome 7
centrosomal colon cancer autoantigen protein
nephrocystin 10
SHH signaling and ciliogenesis regulator SDCCAG8
CAMOS
KIAA0211
IND1
huInd1
iron-sulfur protein required for NADH dehydrogenase
NUBP iron-sulfur cluster assembly factor, mitochondrial
H17
FAD dependent oxidoreductase domain containing 1
CORD15
KIAA1775
RP65
HUMZD58C02
SREC-II
SREC2
CRIM3
Cv2
crossveinless-2
CCAM
CPAM
Congenital cystic adenomatoid malformation of the lung
Congenital cystic adenomatous malformation of the lung
Congenital cystic disease of the lung
A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.
Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Poland AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000
Spain AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 18.1 AND has_birth_prevalence_range : 1-5 / 10 000
Congenital pulmonary airway malformation
KIAA0526
LCB2
LCB2A
hLCB2a
serine palmitoyltransferase long chain base subunit 2
DR11
HH14
KIAA1351
SRI1
WDR15
sensitization to ricin complex subunit 1
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
SLC76A1
congenital disorder of glycosylation 1N
AIF
DFNX5
apoptosis inducing factor mitochondria associated 1
DAT
Sodium-dependent dopamine transporter
dopamine transporter
BACAT
BAT
choloyl-CoA hydrolase
glycine N-choloyltransferase
bile acid-CoA:amino acid N-acyltransferase
EMT
LYK
PSCTK2
CLNMT
CaM KMT
PP2CB
PP2CBETA
PPC2BETAX
protein phosphatase 2C, beta isoform
protein phosphatase, Mg2+/Mn2+ dependent 1B
CD210
CD210a
CDW210A
HIL-10R
CDW210B
CRF2-4
IL-10R2
IGDCC1
NTN1R1
immunoglobulin superfamily, DCC subclass, member 1
Mandibulofacial dysostosis with preaxial limb anomalies
NAFD
Nager acrofacial dysostosis
Preaxial acrodysostosis
A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Finland AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000
Cutaneous and mucosal venous malformation
VMCM
A rare hereditary vascular malformation characterized by the presence of small, multifocal, venous lesions involving the skin and mucosa.
Worldwide AND has_cases/families_value : 18.0 (Family(ies))
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare congenital non-syndromic heart malformation
3MC3 syndrome
Malpuech facial clefting syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3MC syndrome
OBSOLETE: Stalker-Chitayat syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial intestinal malrotation
OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome
Isolated polythelia
Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.
Worldwide AND has_cases/families_value : 46.0 (Case(s))
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome
OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome
Mansonellosis
A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.
Acrofacial dysostosis, Genee-Wiedemann type
Mandibulofacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.
Marden-Walker-like syndrome
VDEGS
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
Belgium AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000
Marfanoid craniosynostosis syndrome
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Fragoso-Cantú syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.
Marfanoid habitus-autosomal recessive intellectual disability syndrome
A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.
CFAP59
CILD14
FAP59
coiled-coil domain 39 molecular ruler complex subunit
CFAP172
CILD15
FAP172
KIAA1640
coiled-coil domain 40 molecular ruler complex subunit
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
FLVCR
MFSD7B
PCA
SLC49A1
KRP
MLCK
MLCK1
MLCK108
MLCK210
MYLK-L
MYLK1
Telokin
kinase related protein
smMLCK
smooth muscle myosin light chain kinase
TRKC
cAMP responsive element binding protein 1
A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.
Denmark AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000
Denmark AND has_point_prevalence_average_value : 9.6 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 11.3 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000
ACM
Arrhythmogenic cardiomyopathy
A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
Italy AND has_point_prevalence_average_value : 43.5 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
IDH-2
CD279
PD-1
hSLE1
angiopoietin 5
BBS15
CPLANE5
ciliogenesis and planar polarity effector complex subunit 5
fritz
hFrtz
WD repeat containing planar cell polarity effector
Erythroedema polyneuritis
Feer disease
Infantile acrodynia
Infantile mercury intoxication
Pink disease
Swift disease
Swift-Feer disease
Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.
PCCA
A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.
BDC
Bellini carcinoma
Bellini duct carcinoma
CDC
Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.
Idiopathic late-onset cerebellar ataxia
SAOA
A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.
Europe AND has_point_prevalence_average_value : 7.6 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 6.9 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000
Sporadic adult-onset ataxia of unknown etiology
Hemosiderosis of the central nervous system
Superficial hemosiderosis of the CNS
Superficial hemosiderosis of the central nervous system
Superficial siderosis of the CNS
Superficial siderosis of the central nervous system
Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
Inhalation anthrax disease
Pulmonary anthrax
Respiratory anthrax
Respiratory anthrax disease
Inhalational anthrax is a rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.
Mabry syndrome
A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.
Hyperphosphatasia-intellectual disability syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome
A rare genetic syndrome with multiple congenital anomalies characterized by urogenital malformations, mainly hydrometrocolpos (HMC) in females, postaxial polydactyly (PAP) and congenital heart disease (CHD). The disorder is allelic with Bardet-Biedl syndrome 6 (BBS6).
Specific population AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
GPP
Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.
France AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene
Autosomal recessive secondary erythrocytosis, non-Chuvash type
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene
Autosomal recessive secondary polycythemia, non-Chuvash type
A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.
Autosomal recessive secondary erythrocytosis not associated with VHL gene
OBSOLETE: Intellectual disability-coloboma-slimness syndrome
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
Autosomal dominant secondary polycythemia
A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.
Autosomal dominant secondary erythrocytosis
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
ASS deficiency
Argininosuccinate synthase deficiency
Argininosuccinate synthetase deficiency
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
Citrullinemia type 1
Classic citrullinemia
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I).
Austria AND has_birth_prevalence_average_value : 1.28 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000
Korea, Republic of AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 1.13 AND has_birth_prevalence_range : 1-9 / 100 000
Acute neonatal citrullinemia type 1
Early-onset citrullinemia type 1
Early-onset citrullinemia type I
A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Late-onset citrullinemia type 1
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
Adult-onset citrin deficiency
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type II
CTLN2
Citrullinemia type 2
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Neonatal intrahepatic cholestasis due to citrin deficiency
Medeira-Dennis-Donnai syndrome
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.
Dysraphism-cleft lip/palate-limb reduction defects syndrome
JPLS
Juvenile PLS
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Perinatal lethal Rathbun disease
Perinatal lethal phosphoethanolaminuria
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Prenatal benign Rathbun disease
Prenatal benign phosphoethanolaminuria
A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
Infantile Rathbun disease
Infantile phosphoethanolaminuria
A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
Childhood-onset Rathbun disease
Childhood-onset phosphoethanolaminuria
A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.
Adult Rathbun disease
Adult phosphoethanolaminuria
A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.
A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
MEN2A
PTC syndrome
Sipple syndrome
A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.
A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.
MEN2B
Multiple endocrine neoplasia type 3
Wagenmann-Froboese syndrome
A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.
IMAM
A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.
Inflammatory myopathy with abundant macrophages
Idiopathic eosinophilia-associated myopathy
A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral Achilles tendon contracture , as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.
A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.
Müllerian duct failure and hyperandrogenism
WNT4 deficiency
A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.
Congenital absence of uterus and vagina
MRKH syndrome type 1
Rokitansky sequence
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.
Mayer-Rokitansky-Küster-Hauser syndrome type 1
FTH1-associated iron overload
A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.
Juvenile cataract-microcornea-renal glycosuria syndrome
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
Juvenile cataract-microcornea-renal glucosuria syndrome
MUTYH-related adenomatous polyposis
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
Megalencephalic leukoencephalopathy with subcortical cysts
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Attenuated familial adenomatous polyposis
OBSOLETE: APC-related attenuated familial adenomatous polyposis
Mild peroxisomal disorder due to PEX10 deficiency
A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild cognitive disability, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement.
Autosomal recessive ataxia due to PEX10 deficiency
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Miyake disease
OCMD
OMD
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies
OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Oligoarticular juvenile idiopathic arthritis
OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies
OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies
OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies
OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies
OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies
OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies
OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies
OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies
OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies
OBSOLETE: Rheumatoid factor-negative JIA without anti-nuclear antibodies
OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
FCAS2
Familial cold autoinflammatory syndrome type 2
NAPS12
A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.
NLRP12-associated hereditary periodic fever syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autoimmune disease with skin involvement
OBSOLETE: Vitiligo-associated autoimmune disease
MMR syndrome
Neuhäuser syndrome
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
Megalocornea-intellectual disability syndrome
AR-HED
Autosomal recessive hypohidrotic ectodermal dysplasia
Idiopathic hypertrophic osteoarthropathy
PHO
Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
NCM
Neurocutaneous melanosis
Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.
JHD
Juvenile Huntington chorea
Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.
A rare dysostosis characterized by the presence of fifteen dorsal vertebrae and rib pairs with a normal complement of lumbar vertebrae. Patients may also present with Hirschsprung's disease, membraneous imperforate anus with perineal fistula, cryptorchidism, high-arched palate, simian crease and absent nails. There have been no further descriptions in the literature since 1985.
JNK3
c-Jun Kinase 3
p54bSAPK
A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Hemolytic anemia due to a disorder of glycolytic enzymes
OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Rare bleeding disorder
Rare bleeding disorder due to a coagulation factors defect
Rare coagulopathy due to a coagulation factor defect
Rare hemorrhagic disorder due to a coagulation factors defect
Rare bleeding disorder due to a platelet anomaly
Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia
Rare coagulopathy due to a platelet anomaly
Rare coagulopathy due to a thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a platelet anomaly
Isolated delta-SPD
Isolated dense-SPD
Isolated dense-storage pool disease
Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.
Rare bleeding disorder due to an acquired platelet anomaly
Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia
Rare coagulopathy due to an acquired platelet anomaly
Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to an acquired platelet anomaly
Rare thrombotic disorder due to a coagulation factors defect
Rare thrombotic disorder due to a constitutional coagulation factors defect
Rare thrombotic disorder due to an acquired coagulation factors defect
Rare thrombotic disorder due to a platelet anomaly
Melnick-Needles osteodysplasty
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Rare thrombotic disorder due to a constitutional platelet anomaly
Rare thrombotic disorder due to an acquired platelet anomaly
HD6
JM21
KDAC6
KIAA0901
PPP1R90
alpha-tubulin deacetylase HDAC6
protein phosphatase 1, regulatory subunit 90
BABL
LIPO
Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.
Europe AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial cerebral cavernous malformation
Transverse limb deficiency-hemangioma syndrome
Fried-Goldberg-Mundel syndrome
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.
Lower limb malformation-hypospadias syndrome
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Upper limb defect-eye and ear abnormalities syndrome
A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.
Müllerian duct anomalies-limb anomalies syndrome
Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
Hecht-Scott syndrome
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.
Giant hypertrophic gastritis
Hypoproteinemic hypertrophic gastropathy
Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.
A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.
Germany AND has_annual_incidence_average_value : 4.15 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 8.14 AND has_annual_incidence_range : 1-9 / 100 000
8q13 microdeletion syndrome
Del(8)q(13)
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
Monosomy 8q13
Verloes-David syndrome
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.
Fryns-Hofkens-Fabry syndrome
A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.
Upper limb mesomelic dysplasia, type Fryns
Fusion of metacarpals 4 and 5
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
Czech Republic AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000
Israel AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000
Spain AND has_birth_prevalence_average_value : 2.85 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_average_value : 333.0 AND has_point_prevalence_range : >1 / 1000
United States AND has_birth_prevalence_average_value : 0.76 AND has_birth_prevalence_range : 1-9 / 1 000 000
Median cleft face syndrome
A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.
Acrogeria, Gottron type
Acrometageria
Gottron syndrome
A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
Metaphyseal chondrodysplasia, Spahr type
AC19
MGC9850
RPA16
RPA9
RPAC2
RPO1-3
IAP
MRX95
OST3B
SLC58A1
oligosaccharyltransferase 3 homolog B (S. cerevisiae)
AC40
RPA39
RPA40
RPA5
RPAC1
RPC40
Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome
A rare multiple metaphyseal dysplasia syndrome characterized by metaphyseal dysplasia, short-limb dwarfism (more pronounced in the lower limbs), mild intellectual deficiency and conductive hearing loss that is associated with repeated episodes of otitis media in childhood. Patients usually present with short and cupped ribs, short and broad hands and finger joint laxity. Hyperopia, strabismus, anterior polar cataract, scoliosis, lumbar lordosis and brachydactyly may also be present. There have been no further descriptions in the literature since 1971.
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.
Multiple benign circumferential skin creases on limbs
3MC1 syndrome
Oculopalatoskeletal syndrome
ACC-abnormal genitalia syndrome
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Proud syndrome
Proud-Levine-Carpenter syndrome
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.
Corpus callosum agenesis-abnormal genitalia syndrome
Serpinopathy with toxic serpin polymerization
Serpinopathy with loss of serpin function
LPA
Logopenic primary progressive aphasia
Logopenic variant PPA
Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.
Rare tumoral disease
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Europe AND has_annual_incidence_average_value : 1.31 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Autosomal dominant optic atrophy and peripheral neuropathy
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Polymicrogyria with optic nerve hypoplasia
5-amino-4-imidazole carboxamide ribosiduria
AICA-ribosiduria due to ATIC deficiency
AICAR transformylase/IMP cyclohydrolase deficiency
ATIC deficiency
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.
A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.
Del(1)(q21)
Monosomy 1q21.1
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Trisomy 1q21.1
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.
Del(1)(q41q42)
Monosomy 1q41q42
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
EDM
Polyepiphyseal dysplasia
A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.
WARBM
Warburg micro syndrome
A rare neurodevelopmental disorder characterized by severe intellectual disability, progressive spasticity, postnatal microcephaly, and ocular abnormalities, including congenital cataracts, microphthalmia, and optic atrophy. Other frequent findings are hypothalamic hypogonadism and brain malformations.
Worldwide AND has_cases/families_value : 203.0 (Case(s))
UPD(1)pat
Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 1 syndrome
UPD(1)mat
Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Maternal uniparental disomy of chromosome 1 syndrome
Monosomy 2q31.1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
Del(2)(q32q33)
Monosomy 2q32q33
A rare partial autosomal deletion syndrome characterized by a variable phenotype including moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. The deletion typically includes the gene SATB2, and patients present with the typical features of SATB2-associated syndrome, with the addition of a variable pattern of cardiovascular, genitourinary, and ectodermal congenital anomalies due to the involvement of adjacent genes.
2q33.1 microdeletion syndrome
Monosomy 2q33.1
SATB2-associated syndrome due to a chromosomal rearrangement
Trisomy 3q29
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
Ring 5
Ring chromosome 5
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
Del(6)(p22)
Monosomy 6p22
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
Monosomy 6q25.2q25.3
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Del(7)(q31)
Monosomy 7q31
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.
Monosomy 8p11.2
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
Monosomy 8p23.1
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Trisomy 8p23.1
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
Worldwide AND has_point_prevalence_average_value : 1.72 AND has_point_prevalence_range : 1-9 / 100 000
Richieri Costa-Guion Almeida-Ramos syndrome
Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
Microbrachycephaly-ptosis-cleft lip syndrome
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Pakistan AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
Specific population AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Autosomal recessive primary microcephaly
Osteochondritis dissecans and short stature
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
O-phosphoseryl-tRNA(Sec) selenium transferase
SLA
SLA-p35
SLA/LP
SecS
soluble liver antigen/liver pancreas antigen
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
FH-III
Familial hyperaldosteronism type 3
A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
SPAX1
A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.
Autosomal dominant spastic ataxia type 1
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinitis pigmentosa
Benign concentric annular macular dystrophy
Parietal foramina with cleidocranial dysplasia
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Parietal foramina with clavicular hypoplasia
PPRCA
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
Pigmented paravenous retinochoroidal atrophy
Castro Gago-Pombo-Novo syndrome
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
Microcephaly-albinism-digital anomalies syndrome
A rare granulomatous autoinflammatroy syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.
Infantile onset panniculitis with uveitis and systemic granulomatosis
Idiopathic relapsing pericarditis
Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Undifferentiated connective tissue syndrome
OBSOLETE: Unclassified overlapping connective tissue disease
A rare secondary vasculitis characterized by inflammation of blood vessels caused by various drugs, including antibiotics, anti-tumor necrosis factor-alpha agents, immunotherapeutic drugs, and psychoactive agents, among others. The skin is most commonly affected, but other tissues and organs, such as the subcutis, kidneys, or lungs, may also be involved. Systemic disease develops only in a minority of patients, typically when treated with the causative drug over a prolonged period of time. Presenting signs and symptoms include skin rash, myalgia, arthralgia, fever, and malaise.
A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved.
Persistent fever/inflammation of unknown origin
A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.
Unexplained long-lasting fever/inflammatory syndrome
A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Sickle cell disease
OBSOLETE: Sickle cell disease associated with another hemoglobin anomaly
HbS-beta-thalassemia syndrome
A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.
HbSC disease
Hemoglobin S-C disease
Sickle cell-hemoglobin C disease
A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
HbSD disease
Hemoglobin S-D Punjab disease
Sickle cell-hemoglobin D disease
A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
HbSE disease
Hemoglobin S-E disease
Sickle cell-hemoglobin E disease
A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).
HPFH-sickle cell disease syndrome
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.
United States AND has_birth_prevalence_average_value : 10.6 AND has_birth_prevalence_range : 1-5 / 10 000
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.
Localized junctional epidermolysis bullosa
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.
Winship-Viljoen-Leary syndrome
Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.
GPI mannosyltransferase 2
GPI-MT-II
PIG-V
dol-P-Man dependent GPI mannosyltransferase II
phosphatidylinositol glycan anchor biosynthesis class V
46,XY PGD
46,XY partial testicular dysgenesis
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.
DA10
Plantar flexion contracture
Short Achilles tendon
Short tendo calcaneus
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.
Hz/Hc
PAMI syndrome
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
Maternal disease-related embryofetopathy
Histopathological subtype
A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.
Anaplastic astrocytoma
A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.
Diffuse astrocytoma
A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.
United States AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000
Ellis-Yale-Winter syndrome
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Microcephaly-cardiac defect-lung malsegmentation syndrome
PXA
A rare astrocytoma characterized by GFAP-expressing cells with nuclear/cytoplasmic pleomorphism, xanthomatous changes, and eosinophilic granular bodies surrounded by a reticulin network. Pleomorphic xanthoastrocytoma (PXA) most often has cerebral hemispheres location with meningeal involvement, mainly affects younger individuals and is frequently characterized by early seizure manifestation. Extent of resection and mitotic index are important prognostic factors. PXA commonly exhibits MAPK signaling pathway genes mutations (most frequently BRAFV600E), often combined with CDKN2A/B homozygous deletion, and a specific DNA methylation profile. The tumor corresponds to WHO grade 2 or grade 3, mainly depending on the mitotic index and Ki-67 expression.
A rare astrocytoma characterized by bipolar hair-like projections extending from the neoplastic astrocytes, myxoid areas, eosinophilic granular bodies, and Rosenthal fibers. This WHO grade 1 tumor is most often located in the cerebellum in children, or in the hypothalamus, brain stem, optic chiasma, and brain hemispheres in adults. Depending on the primary location and the growth rate of the tumor, patients may present with signs of increased intracranial pressure or focal neurological signs such as decreased visual acuity, ataxia, and/or nystagmus, among other symptoms. Molecularly, it exhibits alterations in genes of the MAPK signaling pathway, most commonly KIAA1549::BRAF fusion.
United States AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000
SEGA
A rare astrocytoma characterized by a benign, slowly growing lesion that typically arises in the walls of the lateral ventricles, and most commonly occurs in patients < 20 years with tuberous sclerosis complex. Most patients present with worsening epilepsy or symptoms of increased intracranial pressure. This WHO grade 1 tumor is composed of astrocytes with various phenotypes (i.e. polygonal, gemistocytic, spindle, and ganglionic-like). On immunohistochemistry, it is usually positive for GFAP, S100, beta-tubulin, neurofilament, synaptophysin, NeuN, TTF1, and phosphorylated S6 but shows weak or negative staining for tuberin, hamartin, and Ki-67. It has its specific DNA methylation profile.
A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.
Worldwide AND has_cases/families_value : 171.0 (Case(s))
Oligodendroglioma
A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.
Anaplastic oligodendroglioma
A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.
United States AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Ependymal tumor
Classic ependymoma
Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.
Europe AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000
Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.
Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.
A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.
United States AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Mixed oligodendroglial and astrocytic tumor
Europe AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.19 AND has_annual_incidence_range : 1-9 / 1 000 000
MOA
Mixed oligoastrocytoma
Oligoastrocytoma, dual genotype NEC
Oligoastrocytoma, dual genotype, not elsewhere classified
Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.
Anaplastic oligoastrocytoma, dual genotype NEC
Anaplastic oligoastrocytoma, dual genotype, not elsewhere classified
aMOA
A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.
Anaplastic oligoastrocytoma, dual genotype
Glial tumor of neuroepithelial tissue with unknown origin
A rare diffuse glial neoplasm of the central nervous system characterized by a slowly progressing, grade 1 tumor usually arising in the cerebral cortex and/or brainstem, with tumor cells focally organized around the blood vessels in a distinctive pattern. Angiocentric glioma typically affects young patients and is clinically characterized by refractory seizures and headaches. Nearly all angiocentric gliomas exhibit MYB alterations (most commonly MYB::QKI fusion). Most cases are cured by surgical resection alone and the prognosis is usually favorable.
Worldwide AND has_cases/families_value : 52.0 (Case(s))
A rare central nervous system tumor characterized by a non-infiltrative and well-circumscribed WHO grade 2 glial neoplasm occurring in the third ventricle, often extending to hypothalamus. Chordoid glioma presents most frequently in middle-aged women with symptoms of memory deficits, headaches and visual loss, related to its location. Virtually all chordoid gliomas exhibit positivity for GFAP and TTF1 immunostaining, PRKCAp.D463H mutation, and a specific chordoid glioma DNA methylation class.
A rare central nervous system tumor characterized by a well circumscribed astrocytic neoplasm, typically arising peripherally in the frontal or parietal lobes. It usually presents in infants and young adults with symptoms of increased intracranial pressure, epileptic seizures, and/or neurological deficits. At the histomolecular level, it exhibits astroblastic perivascular pseudorosettes and positive immunostaining for GFAP and EMA. It carries fusion of MN1 with various partners (the most common being BEND2 and CXXC5) and exhibits a specific astroblastoma, MN1-altered DNA methylation class.
LNIR
PRR4
nectin-4
DCDC4B
doublecortin domain containing 4B
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
Autosomal recessive chorioretinopathy-microcephaly syndrome
Embryonal tumor of neuroepithelial tissue
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.
MBEN
Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.
Medulloblastoma with extensive nodularity
Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
Classic medulloblastoma is a histological variant of medulloblastoma ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.
CNS PNET
Central nervous system primitive neuroectodermal tumor
Europe AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome, depending on the location of the tumor.
Worldwide AND has_cases/families_value : 425.0 (Case(s))
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Embryonal tumor with multilayered rosettes
Medulloepithelioma of the central nervous system
OBSOLETE: AT/RT
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Atypical teratoid rhabdoid tumor
OBSOLETE: Atypical teratoid/rhabdoid tumor
United States AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.
Europe AND has_lifetime_prevalence_average_value : 0.35 AND has_lifetime_prevalence_range : 1-9 / 1 000 000
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
Microcephaly-seizures-intellectual disability-heart disease syndrome
Atypical CPP
Atypical choroid plexus papilloma
A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.
Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.
PTPR
Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.
A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.
Pineal parenchymal tumor of intermediate differentiation
EVN
Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.
Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.
A rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.
DIA/DIG
Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.
Desmoplastic infantile astrocytoma/ganglioglioma
DNET
A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.
Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.
A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.
PGNT
Pseudopapillary ganglioglioneurocytoma
Pseudopapillary neurocytoma with glial differentiation
A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.
RGNT
Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.
Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.
Primary germ cell tumor of CNS
Primary germ cell tumor of central nervous system
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
OBSOLETE: Spondyloepimetaphyseal dysplasia
Endodermal sinus tumor of CNS
Endodermal sinus tumor of central nervous system
Intracranial endodermal sinus tumor
Intracranial yolk sac tumor
Yolk sac tumor of CNS
Yolk sac tumor of central nervous system
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.
Choriocarcinoma of the central nervous system
Mixed germ cell tumor of CNS
Mixed germ cell tumor of central nervous system
Primary melanocytic lesion of CNS
Primary melanocytic lesion of central nervous system
Primary melanocytic tumor of CNS
Primary melanocytic tumor of central nervous system
DLM
Leptomeningeal melanomatosis
Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.
A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.
Malignant melanoma of meninges
Primary melanoma of the CNS
Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.
Worldwide AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000
Primary melanoma of the central nervous system
A rare benign, highly vascularized tumor characterized by various symptoms depending on the location. They typically occur in the brain (typically cerebellum, in addition to brainstem, cerebrum) and spinal cord, and predominantly affect the central nervous system. However they can also be found in peripheral nerves, bone and soft tissue, liver, lung, pancreas, kidney, intestines, and skin in a lesser extent. They most commonly occur sporadically or in association with von Hippel-Lindau syndrome. Patients having cerebellar tumors often present with headaches, nausea, vomiting, and signs of increased intracranial pressure, whereas patients having brainstem tumors develop motor and sensory deficits, ataxia, and potentially fatal hemorrhages. Hemangioblastomas located in spinal cord may result in localized pain, motor weakness, sensory disturbances, and bowel or bladder dysfunction. Patients having optic nerve hemangioblastoma were also reported of either being asymptomatic or manifest vision loss, proptosis, and pain.
Worldwide AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000
Rare tumor of cranial and spinal nerves
United States AND has_annual_incidence_average_value : 1.89 AND has_annual_incidence_range : 1-9 / 100 000
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
C4/C2 activating component of Ra-reactive factor
MAP-1
MASP
MASP-3
Map44
mannose-binding lectin-associated serine protease 1
Malignant perineurioma
Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.
Malignant peripheral nerve sheath tumor with perineurial differentiation
BPNST
Neurilemmoma
Neurilemoma
Peripheral fibroblastoma
A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.
Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000
Acoustic neurilemoma
Acoustic neurinoma
Acoustic neuroma
Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.
Denmark AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_range : 1-9 / 100 000
Specific population AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000
A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.
Inherited nervous system cancer-predisposing syndrome
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.
Microcephaly-cervical spine fusion anomalies syndrome
CMMR-D syndrome
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.
Constitutional mismatch repair deficiency syndrome
Melanoma-astrocytoma syndrome
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).
Melanoma and neural system tumor syndrome
MPNST with rhabdomyosarcomatous differentiation
MTT
Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation
Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.
Franek-Bocker-Kahlen syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.
Microcephaly-brain defect-spasticity-hypernatremia syndrome
PCH2
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.
Worldwide AND has_cases/families_value : 81.0 (Family(ies))
complex I B8 subunit
NADH:ubiquinone oxidoreductase subunit A2
COQ1
COQ1A
coenzyme Q1 homolog (yeast)
decaprenyl diphosphate synthase subunit 1
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Worldwide AND has_cases/families_value : 50.0 (Family(ies))
Microcephaly-chorioretinopathy-lymphedema syndrome
Seemanova-Lesny syndrome
Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
Microcephaly-microcornea syndrome, Seemanova type
SED and SEMD
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Kawashima-Tsuji syndrome
Microcephaly-hearing loss-intellectual disability syndrome
Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Microcephaly-deafness-intellectual disability syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare disorder of the pupil
OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.
Microcornea-glaucoma-absent frontal sinuses syndrome
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.
Microgastria-limb reduction defect syndrome
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
Isolated MAC
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
France AND has_birth_prevalence_average_value : 2.18 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 3.33 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000
Isolated microphthalmia-anophthalmia-coloboma
OBSOLETE: Congenital cataract-microphthalmia syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated microphthalmia-anophthalmia-coloboma
OBSOLETE: Microphthalmia-cataract syndrome
RI-CMT type B
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive spastic ataxia type 4
SPAX4
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Monosomy 19p13.12
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Distal del(7)(q11.23)
Distal monosomy 7q11.23
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
Plectin-related limb-girdle muscular dystrophy R17
Rare LP
Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis.
Rare cutaneous LP
Rare mucosal LP
Blaschkoid LP
Blaschkoid lichen planus
Linear LP
Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.
Actinic LP
Lichen planus actinus
Lichen planus subtropicus
Lichen planus tropicus
Lichenoid melanodermatitis
Summertime actinic lichenoid eruption
A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.
Annular atrophic LP
A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.
Annular LP
A rare variant of cutaneous lichen planus characterized by the development of annular lesions.
Atrophic LP
A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.
LP pigmentosa
LP pigmentosus
Lichen planus pigmentosa
Lichen planus pigmentosus inversus
Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.
LP pemphigoides
Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.
FFA
Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.
Inhalation botulism
Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).
Inadvertent botulism
Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.
A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).
KOS
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.
Worldwide AND has_cases/families_value : 84.0 (Case(s))
Paternal del(14)(q32.2)
Temple syndrome due to paternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Temple syndrome due to paternal 14q32.2 hypomethylation
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Complete molar pregnancy
A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.
Incomplete hydatidiform mole
Incomplete molar pregnancy
Partial molar pregnancy
A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.
A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels.
Thomas-Jewett-Raines syndrome
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.
Microphthalmia-microtia-fetal akinesia syndrome
Benign hyperferritinemia
Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.
Genetic hyperferritinemia without iron overload
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome
Familial Rosaï-Dorfman disease
Familial SHML
Familial sinus histiocytosis with massive lymphadenopathy
PHID
Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
Citric acid cycle disorder
Krebs cycle disorder
TCA cycle disorder
Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies
OXPHOS disease due to mitochondrial DNA anomalies
OXPHOS disease due to mtDNA anomalies
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA
OXPHOS disease due to a large-scale single deletion of mitochondrial DNA
OXPHOS disease due to a large-scale single deletion of mtDNA
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA
OXPHOS disease due to a point mutation of mitochondrial DNA
OXPHOS disease due to a point mutation of mtDNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Maternally-inherited mitochondrial myopathy
mtDNA-related mitochondrial myopathy
A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.
Mitochondrial DNA-related mitochondrial myopathy
OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA
OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA
OBSOLETE: OXPHOS disease due to a duplication of mtDNA
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
mtDNA depletion syndrome, encephalomyopathic form
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Multiple mtDNA deletion syndrome
Multiple mitochondrial DNA deletion syndrome
OXPHOS disease with no known mechanism
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Mitochondrial membrane transport disorder
Mitochondrial substrate carrier disorder
Exercise intolerance with lactic acidosis
Isolated respiratory chain complex disorder
Isolated oxidative phosphorylation complex disorder
Maternally-inherited mitochondrial dystonia
mtDNA-related dystonia
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
LIMD
LIMM
Lethal infantile mitochondrial disease
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Deoxyguanosine kinase deficiency
mtDNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome, hepatocerebral form
TK2 deficiency
TK2d
Thymidine kinase 2 deficiency
A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.
TK2-related mitochondrial DNA maintenance defect, myopathic form
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE
A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
arPEO
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.
Autosomal recessive progressive external ophthalmoplegia
adPEO
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.
Autosomal dominant progressive external ophthalmoplegia
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Hemifacial microsomia-radial defects syndrome
Moeschler-Clarren syndrome
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
Oculoauriculovertebral spectrum with radial defects
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.
Renal tubulopathy-encephalopathy-liver failure syndrome
Isolated COX deficiency
Isolated mitochondrial respiratory chain complex IV deficiency
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.
Isolated cytochrome C oxidase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
COXPD2
Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Combined oxidative phosphorylation defect type 2
COXPD4
Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.
Combined oxidative phosphorylation defect type 4
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
Combined oxidative phosphorylation defect type 7
HPD with diurnal fluctuation
Hereditary progressive dystonia with diurnal fluctuation
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
Verloes-Van Maldergem-de Marneffe syndrome
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
Microspherophakia-metaphyseal dysplasia syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal dominant optic atrophy plus syndrome
OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness
GLRX5-related sideroblastic anemia
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
Adult-onset autosomal recessive sideroblastic anemia
PDHBD
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
Pyruvate dehydrogenase E1-beta deficiency
2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
Pyruvate dehydrogenase E3-binding protein deficiency
OBSOLETE: Sporadic Leigh disease
OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Mitochondrial DNA-associated Leigh syndrome
A rare parasitic disease characterized by chronic diarrhea leading to severe weight loss caused by microsporidia contamination (most commonly by Encephalitozoon or Enterocytozoon). Contamination can occur through ingesting spores present in water or food or via direct human-to-human contact. Immunodeficient patients (such as individuals with HIV, and patients who have undergone a bone marrow or organ transplant) may be severely affected. These protozoan parasites mainly develop in intestinal cells, but can also be found in adipocytes, epithelial cells and blood cells.
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Mitochondrial DNA-associated Leigh syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy
Navajo neuropathy
A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Infantile subacute necrotizing encephalopathy with leukodystrophy
Leigh disease with leukodystrophy
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leigh syndrome
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Leigh disease with nephrotic syndrome
Meier-Gorlin syndrome
A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.
Microphthalmia with linear skin defects syndrome
Intellectual disability, Mietens-Weber type
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
A rare syndrome with hypergonadotropic hypogonadism characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (including a narrow forehead, synophrys, abnormally folded pinna, and micrognathia). Early teeth loss, gynecomastia, cubitus valgus, genu valgum and cryptorchidism were reported in some patients. There have been no further descriptions in the literature since 1985.
Dystonia musculorum deformans
EOTD
Early-onset generalized torsion dystonia
Early-onset isolated dystonia
Early-onset primary dystonia
Early-onset torsion dystonia
Idiopathic torsion dystonia
Oppenheim dystonia
A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.
Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000
Early-onset generalized limb-onset dystonia
A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further descriptions in the literature since 1996.
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Ackerman fused molar roots syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.
Pyramidal molars-abnormal upper lip syndrome
Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Sommer-Hines syndrome
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.
Skeletal dysplasia-brachydactyly syndrome
A rare dysostosis with brachydactyly without extraskeletal manifestations characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with fibular overgrowth. Females were reported to exhibit phenotypic variation and be less severely affected than males who were similarly affected. There have been no further descriptions in the literature since 1992.
CAEBV syndrome
Chronic EBV infection syndrome
Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
Chronic Epstein-Barr virus infection syndrome
Dwarfism-stiff joint-ocular abnormalities syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acromicric dysplasia
EBS with muscular dystrophy
EBS-MD
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
Epidermolysis bullosa simplex with muscular dystrophy
Morse-Rawnsley-Sargent syndrome
A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.
Bedouin spastic ataxia syndrome
Mousa-Al Din-Al Nassar syndrome
Spastic ataxia-ocular anomalies syndrome
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.
Spastic ataxia-corneal dystrophy syndrome
Idiopathic Moyamoya disease
Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
China AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000
China AND has_point_prevalence_average_value : 3.92 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000
Japan AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000
Taiwan, Province of China AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000
Taiwan, Province of China AND has_point_prevalence_average_value : 0.44 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000
Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alopecia-intellectual disability syndrome
Lubani-Al Saleh-Teebi syndrome
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
MUL
Mulibrey growth disorder
Muscle-liver-brain-eye nanism
A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.
Finland AND has_annual_incidence_average_value : 2.7 AND has_annual_incidence_range : 1-9 / 100 000
Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Furukawa-Takagi-Nakao syndrome
A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
A rare congenital muscular dystrophy characterized by severe hypotonia, muscle weakness and muscle wasting presenting at birth or during infancy, poor spontaneous movements and contractures of the large joints. Patients have poor motor development leading to feeding and respiratory issues.
Eastern Mediterranean Asia AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000
Laminin subunit alpha 2-related congenital muscular dystrophy
OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome
Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
Myalgia-eosinophilia syndrome associated with tryptophan
Madura foot
A neglected tropical infection, rare in Europe, characterized by subcutaneous tumorous lesions in which mycetoma grains containing the causative agent can be observed. Mycetoma is a broad term encompassing both actinomycetoma (bacterial) and eumycetoma (fungal).
Mauritania AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 100 000
Sudan AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : 1-9 / 100 000
Mycosis fungoides, Alibert-Bazin type
A form of cutaneous T-cell lymphoma characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. In classic mycosis fungoides (MF), extracutaneous involvement may occur.
United States AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000
ATXPC syndrome
Myelocerebellar disorder
SAMD9L-related ataxia-pancytopenia syndrome
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
KIAA0581
PLC-I
PLC154
NEM6
nemaline myopathy type 6
kelch repeat and BTB domain containing 13
D6S216E
PSMB5i
RING10
beta5i
proteasome subunit β5i
proteasome subunit ß5i
KIAA1901
NY-REN-55
ARS-interacting multifunctional protein 1
EMAP II
EMAP-2
EMAPII
multisynthetase complex auxiliary component p43
p43
aminoacyl tRNA synthetase complex interacting multifunctional protein 1
MPO deficiency
A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.
Myoclonus-cerebellar ataxia-hearing loss syndrome
A rare genetic developmental defect during embryogenesis characterized by progressive childhood/early adulthood-onset sensorineural hearing loss (which may be bilateral), adolescence-onset myoclonus, provoked by light and bright colors and cerebellar ataxia (manifests as gait instability, and intention tremor). Generalized tonic-clonic seizures may also be present. There have been no further descriptions in the literature since 1984.
Myoclonus-cerebellar ataxia-deafness syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.
A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.
FANCP
Fanconi anemia, complementation group P
KIAA1784
KIAA1987
SLX4 structure-specific endonuclease subunit
HPAP
TRAcP
human purple acid phosphatase
tartrate-resistant acid phosphatase
HDS
RP59
hCIT
dehydrodolichyl diphosphate synthase subunit
GFA
GFAT
GFAT1
glutamine--fructose-6-phosphate transaminase 1
angulin-2
immunoglobulin like domain containing receptor 1
A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.
OBSOLETE: Benign occipital epilepsy
OBSOLETE: Self-limited childhood occipital epilepsy
Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
Mitochondrial myopathy-lactic acidosis-deafness syndrome
MLASA
Myopathy, lactic acidosis and sideroblastic anemia
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
Mitochondrial myopathy and sideroblastic anemia
A rare X-linked myopathy characterized by childhood or adult-onset of slowly progressive muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features).
Worldwide AND has_cases/families_value : 36.0 (Family(ies))
X-linked myopathy with excessive autophagy
Combined defect in adenosylcobalamin and methylcobalamin synthesis
Methylmalonic aciduria with homocystinuria
A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
Methylmalonic acidemia with homocystinuria
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Muscular dystrophy
OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome
ARSA
Congenital sideroblastic anemia
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
Autosomal recessive sideroblastic anemia
JV15-2
HsORC4
Orc4p
DUP
RIS2
chromatin licensing and DNA replication factor 1
CFAP60
FAP60
FLA17
IFT139
IFT139B
JBTS11
NPHP12
Nephronophthisis type12
THM1
intraflagellar transport 139 homolog
tetratricopeptide repeat-containing hedgehog modulator-1
Tetratricopeptide repeat protein 19, mitochondrial
JBTS24
MKS8
Meckel syndrome, type 8
TECT2
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that may cause chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.
KIAA1074
MAPKKK1
MEKK
mitogen-activated protein kinase kinase kinase 1
HSORC1
PARC1
origin recognition complex 1
origin recognition complex, subunit 1, S. cerevisiae, homolog-like
replication control protein 1
HBEBP2
HBEBP4
CL-11
CL-K1
Collectin K1
MGC3279
ALK lymphoma oligomerization partner on chromosome 17
ALO17
KIAA1554
NET57
mysterin
A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.
AICARFT
IMPCHASE
PURH
phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome.
EDMD
A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
FDGC
Familial diffuse cancer of stomach
Familial diffuse gastric cancer
HDGC
Hereditary diffuse cancer of stomach
Hereditary diffuse gastric adenocarcinoma
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.
Europe AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000
Linear hamartoma syndrome
A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.
Distal dup(7)(q11.23)
Distal trisomy 7q11.23
Dup7q11.23D
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
Distal 7q11.23 microduplication syndrome
9p deletion syndrome
9p- syndrome
Alfi syndrome
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Monosomy 14q11.2
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Del(14)(q12)
Monosomy 14q12
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
FOXG1 syndrome due to 14q12 microdeletion
15q11.2 BP1-BP2 microdeletion syndrome
Monosomy 15q11.2
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).
15q14 microdeletion syndrome
Del(15)(q14)
Monosomy 15q14
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
United States AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
Nevus sebaceus of Jadassohn
Nevus sebaceus syndrome
Organoid nevus syndrome
Schimmelpenning syndrome
Solomon syndrome
A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.
Trisomy 16p11.2p12.2
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.
Monosomy 16p11.2p12.2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Distal del(16)(p11.2)
Distal monosomy 16p11.2
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
Trisomy 14q11.2
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.
Monosomy 16p13.11
A rare partial deletion of the short arm of chromosome 16 syndrome characterized by global developmental, motor and language delay, epilepsy, neuropsychiatric and behavioral problems, microcephaly, short stature, dysmorphic features (that may include brachycephaly, hypertelorism, epicanthus, down-slanting palpebral fissures, short nose, low-set ears, cleft palate, wide mouth and thin upper lip) and congenital heart defects. Additional clinical features may include gastroesophageal reflux, pectus excavatum, torticollis, ligamentous hyperlaxity, obesity, body temperature instability, syndactyly, cryptorchidism, micropenis, and hypospadias.
Worldwide AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
Trisomy 16p13.11
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
Worldwide AND has_cases/families_value : 162.0 (Case(s))
Monosomy 16q24.3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
Distal del(17)(p13.3 )
Distal monosomy 17p13.3
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
Del(17)(q12)
Monosomy 17q12
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
Denmark AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_cases/families_value : 103.0 (Case(s))
Dup(17)(q12)
Trisomy 17q12
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
Denmark AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_cases/families_value : 118.0 (Case(s))
Monosomy 17q23.1q23.2
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Dup(17p)
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Monosomy 20p12.3
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.
Salcedo syndrome
A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.
Paternal del(20)(q13.2q13.3)
Paternal monosomy 20q13.2q13.3
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Paternal 20q13.2q13.3 microdeletion syndrome
Monosomy 20q13.33
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.
Dup(20p)
Duplication of 20p
Partial duplication of chromosome 20p
Partial duplication of the short arm of chromosome 20
Partial trisomy of chromosome 20p
Partial trisomy of the short arm of chromosome 20
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
Monosomy 21q22.11q22.12
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral ﬁssures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.
Distal del(22)(q11.2)
Distal monosomy 22q11.2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .
Distal dup(22)(q11.2)
Distal trisomy 22q11.2
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.
Distal 22q11.2 microduplication syndrome
Duplication 1q
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
Monosomy 2p15p16.1
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
JTA
Non-giant cell granulomatous temporal arteritis with eosinophilia
A rare vasculitis characterized by mostly unilateral inflammation of the temporal artery affecting patients up to fifty years of age. Patients typically present with a lump in the temporal region or a prominent temporal artery and often have headaches. Males are more frequently affected than females, and major systemic symptoms, ocular complications, and a biological inflammatory syndrome are usually absent, although peripheral blood eosinophilia may be seen. Histopathological analysis shows arteritis predominantly of the intima with possible extension to the perivascular tissue. The presence of granuloma, giant cells or fibrinoid necrosis is rare. Clinical relapses after one episode are uncommon.
Onychoosteodysplasia
Turner-Kieser syndrome
A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Australia AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000
Complex GKD
Complex glycerol kinase deficiency
Del(X)(p21)
Xp21 contiguous gene deletion syndrome
Xp21 microdeletion syndrome
A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.
Worldwide AND has_cases/families_value : 114.0 (Case(s))
Amyotrophy-fat tissue anomaly syndrome
Secondary hypertrophic osteoperiostosis with pernio
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Proteasome-associated autoinflammatory syndrome
Atypical Norrie disease due to del(X)(p11.3)
Atypical Norrie disease due to nullisomy Xp11.3
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.
Atypical Norrie disease due to Xp11.3 microdeletion
OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using X-linked intellectual disability-retinitis pigmentosa syndrome
OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
UPD(X)mat
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
Maternal uniparental disomy of chromosome X syndrome
UPD(X)pat
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.
Paternal uniparental disomy of chromosome X syndrome
Ring chromosome Y
r(Y)
A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
Mowat-Wilson syndrome due to a ZEB2 point mutation
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Del(5)(q22) syndrome
Monosomy 5q22 syndrome
3-M syndrome
Yakut short stature syndrome
A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
Alagille syndrome due to del(20)(p12)
Alagille syndrome due to monosomy 20p12
Alagille-Watson syndrome due to monosomy 20p12
Arteriohepatic dysplasia due to monosomy 20p12
Syndromic bile duct paucity due to monosomy 20p12
Alagille syndrome due to 20p12 microdeletion
Alagille-Watson syndrome due to a JAG1 point mutation
Arteriohepatic dysplasia due to a JAG1 point mutation
Syndromic bile duct paucity due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Alagille-Watson syndrome due to a NOTCH2 point mutation
Arteriohepatic dysplasia due to a NOTCH2 point mutation
Syndromic bile duct paucity due to a NOTCH2 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Duane-radial ray syndrome due to monosomy 20q13
Okihiro syndrome due to del(20)(q13)
Okihiro syndrome due to monosomy 20q13
Okihiro syndrome due to 20q13 microdeletion
Duane-radial ray syndrome due to a point mutation
Okihiro syndrome due to a point mutation
Kleefstra syndrome due to a point mutation
Bird-headed dwarfism, Montreal type
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
Microcephalic primordial dwarfism, Montreal type
Partial monosomy of chromosome 1
Partial deletion of chromosome 1 syndrome
Partial monosomy of chromosome 2
Partial deletion of chromosome 2 syndrome
Partial monosomy of chromosome 3
Partial deletion of chromosome 3 syndrome
Partial monosomy of chromosome 4
Partial deletion of chromosome 4 syndrome
Partial monosomy of chromosome 5
Partial deletion of chromosome 5 syndrome
Partial monosomy of chromosome 6
Partial deletion of chromosome 6 syndrome
Partial monosomy of chromosome 7
Partial deletion of chromosome 7 syndrome
Partial monosomy of chromosome 8
Partial deletion of chromosome 8 syndrome
Partial monosomy of chromosome 9
Partial deletion of chromosome 9 syndrome
Partial monosomy of chromosome 10
Partial deletion of chromosome 10 syndrome
Partial monosomy of chromosome 11
Partial deletion of chromosome 11 syndrome
Partial deletion of chromosome 12q
Partial monosomy of chromosome 12q
Partial monosomy of the long arm of chromosome 12
Partial deletion of the long arm of chromosome 12 syndrome
Partial monosomy of chromosome 16
Partial deletion of chromosome 16 syndrome
Partial monosomy of chromosome 17
Partial deletion of chromosome 17 syndrome
Partial monosomy of chromosome 18
Partial deletion of chromosome 18 syndrome
Partial monosomy of chromosome 19
Partial deletion of chromosome 19 syndrome
Partial monosomy of chromosome 20
Partial deletion of chromosome 20 syndrome
Partial deletion of chromosome 1p
Partial monosomy of chromosome 1p
Partial monosomy of the short arm of chromosome 1
Partial deletion of the short arm of chromosome 1 syndrome
Partial deletion of chromosome 2p
Partial monosomy of chromosome 2p
Partial monosomy of the short arm of chromosome 2
Partial deletion of the short arm of chromosome 2 syndrome
Partial deletion of chromosome 3p
Partial monosomy of chromosome 3p
Partial monosomy of the short arm of chromosome 3
Partial deletion of the short arm of chromosome 3 syndrome
Partial deletion of chromosome 4p
Partial monosomy of chromosome 4p
Partial monosomy of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 4 syndrome
Partial deletion of chromosome 5p
Partial monosomy of chromosome 5p
Partial monosomy of the short arm of chromosome 5
Partial deletion of the short arm of chromosome 5 syndrome
Mseleni joint disease
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.
Partial deletion of chromosome 6p
Partial monosomy of chromosome 6p
Partial monosomy of the short arm of chromosome 6
Partial deletion of the short arm of chromosome 6 syndrome
Partial deletion of chromosome 7p
Partial monosomy of chromosome 7p
Partial monosomy of the short arm of chromosome 7
Partial deletion of the short arm of chromosome 7 syndrome
Partial deletion of chromosome 8p
Partial monosomy of chromosome 8p
Partial monosomy of the short arm of chromosome 8
Partial deletion of the short arm of chromosome 8 syndrome
Partial deletion of chromosome 9p
Partial monosomy of chromosome 9p
Partial monosomy of the short arm of chromosome 9
Partial deletion of the short arm of chromosome 9 syndrome
Partial deletion of chromosome 10p
Partial monosomy of chromosome 10p
Partial monosomy of the short arm of chromosome 10
Partial deletion of the short arm of chromosome 10 syndrome
Partial deletion of chromosome 11p
Partial monosomy of chromosome 11p
Partial monosomy of the short arm of chromosome 11
Partial deletion of the short arm of chromosome 11 syndrome
Partial deletion of chromosome 16p
Partial monosomy of chromosome 16p
Partial monosomy of the short arm of chromosome 16
Partial deletion of the short arm of chromosome 16 syndrome
Partial deletion of chromosome 17p
Partial monosomy of chromosome 17p
Partial monosomy of the short arm of chromosome 17
Partial deletion of the short arm of chromosome 17 syndrome
Partial deletion of chromosome 18p
Partial monosomy of chromosome 18p
Partial monosomy of the short arm of chromosome 18
Partial deletion of the short arm of chromosome 18 syndrome
Partial deletion of chromosome 19p
Partial monosomy of chromosome 19p
Partial monosomy of the short arm of chromosome 19
Partial deletion of the short arm of chromosome 19 syndrome
Partial deletion of chromosome 20p
Partial monosomy of chromosome 20p
Partial monosomy of the short arm of chromosome 20
Pure partial 20p deletion
Partial deletion of the short arm of chromosome 20 syndrome
Severe dystrophinopathy, Duchenne and Becker type
A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.
United Kingdom AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_range : 1-5 / 10 000
Partial deletion of chromosome 1q
Partial monosomy of chromosome 1q
Partial monosomy of the long arm of chromosome 1
Partial deletion of the long arm of chromosome 1 syndrome
Partial deletion of chromosome 2q
Partial monosomy of chromosome 2q
Partial monosomy of the long arm of chromosome 2
Partial deletion of the long arm of chromosome 2 syndrome
Partial deletion of chromosome 3q
Partial monosomy of chromosome 3q
Partial monosomy of the long arm of chromosome 3
Partial deletion of the long arm of chromosome 3 syndrome
Partial deletion of chromosome 4q
Partial monosomy of chromosome 4q
Partial monosomy of the long arm of chromosome 4
Partial deletion of the long arm of chromosome 4 syndrome
Partial deletion of chromosome 5q
Partial monosomy of chromosome 5q
Partial monosomy of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 5 syndrome
Partial deletion of chromosome 6q
Partial monosomy of chromosome 6q
Partial monosomy of the long arm of chromosome 6
Partial deletion of the long arm of chromosome 6 syndrome
Partial deletion of chromosome 7q
Partial monosomy of chromosome 7q
Partial monosomy of the long arm of chromosome 7
Partial deletion of the long arm of chromosome 7 syndrome
Partial deletion of chromosome 8q
Partial monosomy of chromosome 8q
Partial monosomy of the long arm of chromosome 8
Partial deletion of the long arm of chromosome 8 syndrome
Partial deletion of chromosome 9q
Partial monosomy of chromosome 9q
Partial monosomy of the long arm of chromosome 9
Partial deletion of the long arm of chromosome 9 syndrome
Partial deletion of chromosome 10q
Partial monosomy of chromosome 10q
Partial monosomy of the long arm of chromosome 10
Partial deletion of the long arm of chromosome 10 syndrome
Partial deletion of chromosome 11q
Partial monosomy of chromosome 11q
Partial monosomy of the long arm of chromosome 11
Partial deletion of the long arm of chromosome 11 syndrome
OBSOLETE: Christian-Rosenberg syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Immunodeficiency predominantly affecting antibody production
OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome
Partial deletion of chromosome 13q
Partial monosomy of chromosome 13q
Partial monosomy of the long arm of chromosome 13
Partial deletion of the long arm of chromosome 13 syndrome
Partial deletion of chromosome 14q
Partial monosomy of chromosome 14q
Partial monosomy of the long arm of chromosome 14
Partial deletion of the long arm of chromosome 14 syndrome
Partial deletion of chromosome 15q
Partial monosomy of chromosome 15q
Partial monosomy of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 15 syndrome
Partial deletion of chromosome 16q
Partial monosomy of chromosome 16q
Partial monosomy of the long arm of chromosome 16
Partial deletion of the long arm of chromosome 16 syndrome
Partial deletion of chromosome 17q
Partial monosomy of chromosome 17q
Partial monosomy of the long arm of chromosome 17
Partial deletion of the long arm of chromosome 17 syndrome
Partial deletion of chromosome 18q
Partial monosomy of chromosome 18q
Partial monosomy of the long arm of chromosome 18
Partial deletion of the long arm of chromosome 18 syndrome
Partial deletion of chromosome 19q
Partial monosomy of chromosome 19q
Partial monosomy of the long arm of chromosome 19
Partial deletion of the long arm of chromosome 19 syndrome
Partial deletion of chromosome 20q
Partial monosomy of chromosome 20q
Partial monosomy of the long arm of chromosome 20
Partial deletion of the long arm of chromosome 20 syndrome
Partial deletion of chromosome 21q
Partial monosomy of chromosome 21q
Partial monosomy of the long arm of chromosome 21
Partial deletion of the long arm of chromosome 21 syndrome
Partial deletion of chromosome 22q
Partial monosomy of chromosome 22q
Partial monosomy of the long arm of chromosome 22
Partial deletion of the long arm of chromosome 22 syndrome
Partial trisomy of chromosome 1
Partial duplication of chromosome 1 syndrome
Partial trisomy of chromosome 2
Partial duplication of chromosome 2 syndrome
Partial trisomy of chromosome 3
Partial duplication of chromosome 3 syndrome
Partial trisomy of chromosome 4
Partial duplication of chromosome 4 syndrome
Partial trisomy/tetrasomy of chromosome 5
Partial duplication/triplication of chromosome 5 syndrome
Geleophysic dwarfism
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
OBSOLETE: Blethen-Wenick-Hawkins syndrome
OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome
Partial trisomy of chromosome 6
Partial duplication of chromosome 6 syndrome
Partial trisomy of chromosome 7
Partial duplication of chromosome 7 syndrome
Partial trisomy of chromosome 8
Partial duplication of chromosome 8 syndrome
Partial trisomy/tetrasomy of chromosome 9
Partial duplication/triplication of chromosome 9 syndrome
Partial trisomy of chromosome 10
Partial duplication of chromosome 10 syndrome
Partial trisomy of chromosome 11
Partial duplication of chromosome 11 syndrome
Partial duplication/triplication of chromosome 12p
Partial trisomy/tetrasomy of chromosome 12p
Partial trisomy/tetrasomy of the short arm of chromosome 12
Partial duplication/triplication of the short arm of chromosome 12 syndrome
Partial trisomy of chromosome 16
Partial duplication of chromosome 16 syndrome
Partial trisomy of chromosome 17
Partial duplication of chromosome 17 syndrome
Partial trisomy/tetrasomy of chromosome 18
Partial duplication/triplication of chromosome 18 syndrome
Partial trisomy of chromosome 19
Partial duplication of chromosome 19 syndrome
Partial trisomy of chromosome 20
Partial duplication of chromosome 20 syndrome
Partial duplication of chromosome 2p
Partial trisomy of chromosome 2p
Partial duplication of the short arm of chromosome 2 syndrome
Partial duplication of chromosome 3p
Partial trisomy of chromosome 3p
Partial trisomy of the short arm of chromosome 3
Partial duplication of the short arm of chromosome 3 syndrome
Partial duplication of chromosome 4p
Partial trisomy of chromosome 4p
Partial trisomy of the short arm of chromosome 4
Partial duplication of the short arm of chromosome 4 syndrome
Partial duplication/triplication of chromosome 5p
Partial trisomy/tetrasomy of chromosome 5p
Partial trisomy/tetrasomy of the short arm of chromosome 5
Partial duplication/triplication of the short arm of chromosome 5 syndrome
Partial duplication of chromosome 6p
Partial trisomy of chromosome 6p
Partial trisomy of the short arm of chromosome 6
Partial duplication of the short arm of chromosome 6 syndrome
Partial duplication of chromosome 7p
Partial trisomy of chromosome 7p
Partial trisomy of the short arm of chromosome 7
Partial duplication of the short arm of chromosome 7 syndrome
Partial duplication of chromosome 8p
Partial trisomy of chromosome 8p
Partial trisomy of the short arm of chromosome 8
Partial duplication of the short arm of chromosome 8 syndrome
Partial duplication of chromosome 9p
Partial duplication of the short arm of chromosome 9
Partial tetrasomy of chromosome 9p
Partial triplication of chromosome 9p
Partial trisomy of chromosome 9p
Partial trisomy/tetrasomy of the short arm of chromosome 9
Partial duplication/triplication of the short arm of chromosome 9 syndrome
Partial duplication of chromosome 10p
Partial trisomy of chromosome 10p
Partial trisomy of the short arm of chromosome 10
Partial duplication of the short arm of chromosome 10 syndrome
Partial duplication of chromosome 11p
Partial trisomy of chromosome 11p
Partial trisomy of the short arm of chromosome 11
Partial duplication of the short arm of chromosome 11 syndrome
Partial duplication of chromosome 16p
Partial trisomy of chromosome 16p
Partial trisomy of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 16 syndrome
Partial duplication of chromosome 17p
Partial trisomy of chromosome 17p
Partial trisomy of the short arm of chromosome 17
Partial duplication of the short arm of chromosome 17 syndrome
Partial duplication/triplication of chromosome 18p
Partial trisomy/tetrasomy of chromosome 18p
Partial trisomy/tetrasomy of the short arm of chromosome 18
Partial duplication/triplication of the short arm of chromosome 18 syndrome
Partial duplication of chromosome 1q
Partial trisomy of chromosome 1q
Partial trisomy of the long arm of chromosome 1
Partial duplication of the long arm of chromosome 1 syndrome
Partial duplication of chromosome 2q
Partial trisomy of chromosome 2q
Partial trisomy of the long arm of chromosome 2
Partial duplication of the long arm of chromosome 2 syndrome
Partial duplication of chromosome 3q
Partial trisomy of chromosome 3q
Partial duplication of the long arm of chromosome 3 syndrome
Partial duplication of chromosome 4q
Partial trisomy of chromosome 4q
Partial trisomy of the long arm of chromosome 4
Partial duplication of the long arm of chromosome 4 syndrome
Partial duplication of chromosome 5q
Partial trisomy of chromosome 5q
Partial trisomy of the long arm of chromosome 5
Partial duplication of the long arm of chromosome 5 syndrome
Partial duplication of chromosome 6q
Partial trisomy of chromosome 6q
Partial trisomy of the long arm of chromosome 6
Partial duplication of the long arm of chromosome 6 syndrome
Partial duplication of chromosome 7q
Partial trisomy of chromosome 7q
Partial trisomy of the long arm of chromosome 7
Partial duplication of the long arm of chromosome 7 syndrome
Partial duplication of chromosome 8q
Partial trisomy of chromosome 8q
Partial trisomy of the long arm of chromosome 8
Partial duplication of the long arm of chromosome 8 syndrome
Partial duplication of chromosome 9q
Partial trisomy of chromosome 9q
Partial trisomy of the long arm of chromosome 9
Partial duplication of the long arm of chromosome 9 syndrome
Partial duplication of chromosome 10q
Partial trisomy of chromosome 10q
Partial trisomy of the long arm of chromosome 10
Partial duplication of the long arm of chromosome 10 syndrome
Partial duplication of chromosome 11q
Partial trisomy of chromosome 11q
Partial trisomy of the long arm of chromosome 11
Partial duplication of the long arm of chromosome 11 syndrome
Partial duplication of chromosome 13q
Partial trisomy of chromosome 13q
Partial trisomy of the long arm of chromosome 13
Partial duplication of the long arm of chromosome 13 syndrome
Partial duplication of chromosome 14q
Partial trisomy of chromosome 14q
Partial trisomy of the long arm of chromosome 14
Partial duplication of the long arm of chromosome 14 syndrome
Partial duplication of chromosome 15q
Partial trisomy of chromosome 15q
Partial trisomy of the long arm of chromosome 15
Partial duplication of the long arm of chromosome 15 syndrome
Partial duplication of chromosome 16q
Partial trisomy of chromosome 16q
Partial trisomy of the long arm of chromosome 16
Partial duplication of the long arm of chromosome 16 syndrome
Partial duplication of chromosome 17q
Partial trisomy of chromosome 17q
Partial trisomy of the long arm of chromosome 17
Partial duplication of the long arm of chromosome 17 syndrome
Partial duplication of chromosome 18q
Partial trisomy of chromosome 18q
Partial trisomy of the long arm of chromosome 18
Partial duplication of the long arm of chromosome 18 syndrome
Partial duplication of chromosome 19q
Partial trisomy of chromosome 19q
Partial trisomy of the long arm of chromosome 19
Partial duplication of the long arm of chromosome 19 syndrome
Partial duplication of chromosome 20q
Partial trisomy of chromosome 20q
Partial trisomy of the long arm of chromosome 20
Partial duplication of the long arm of chromosome 20 syndrome
LGMD
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
Egypt AND has_lifetime_prevalence_average_value : 5.7 AND has_lifetime_prevalence_range : 1-9 / 100 000
Ireland AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 1.55 AND has_point_prevalence_range : 1-9 / 100 000
Netherlands AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 6.9 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 2.27 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 2.32 AND has_point_prevalence_range : 1-9 / 100 000
Partial duplication of chromosome 22q
Partial trisomy of chromosome 22q
Partial trisomy of the long arm of chromosome 22
Partial duplication of the long arm of chromosome 22 syndrome
OBSOLETE: UPD(1)
OBSOLETE: Uniparental disomy of chromosome 1
OBSOLETE: UPD(6)
OBSOLETE: Uniparental disomy of chromosome 6
OBSOLETE: UPD(7)
OBSOLETE: Uniparental disomy of chromosome 7
OBSOLETE: UPD(11)
OBSOLETE: Uniparental disomy of chromosome 11
OBSOLETE: UPD(13)
OBSOLETE: Uniparental disomy of chromosome 13
OBSOLETE: UPD(14)
OBSOLETE: Uniparental disomy of chromosome 14
OBSOLETE: UPD(15)
OBSOLETE: Uniparental disomy of chromosome 15
OBSOLETE: UPD(20)
OBSOLETE: Uniparental disomy of chromosome 20
OBSOLETE: UPD(21)
OBSOLETE: Uniparental disomy of chromosome 21
Mesomelic dysplasia, Kozlowski-Reardon type
Mesomelic dysplasia, Reardon type
Reardon-Hall-Slaney syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Fatal course due to cardiorespiratory arrest has also been reported. There have been no further descriptions in the literature since 1993.
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism, Langer type
A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Mesomelic dwarfism, Nievergelt type
Nievergelt syndrome
A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.
Well-differentiated thymic neuroendocrine carcinoma
Moderately-differentiated thymic neuroendocrine carcinoma
Poorly differentiated thymic neuroendocrine carcinoma
Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.
A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others.
Postcardiotomy right ventricular failure
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Alpha-thalassemia-X-linked intellectual disability syndrome
Reinhardt-Pfeiffer mesomelic dysplasia
Reinhardt-Pfeiffer syndrome
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
Mesomelic dwarfism, Reinhardt-Pfeiffer type
A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.
Europe AND has_lifetime_prevalence_average_value : 0.02 AND has_lifetime_prevalence_range : <1 / 1 000 000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant hypocalcemia
Nevus fusculoceruleus ophthalmomaxillaris
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
Nevus fuscocaeruleus acromiodeltoideus
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, may occur together with the latter.
Europe AND has_point_prevalence_average_value : 1.17 AND has_point_prevalence_range : 1-9 / 100 000
Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.
Israel AND has_birth_prevalence_average_value : 38.5 AND has_birth_prevalence_range : 1-5 / 10 000
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).
Congenital hyperinsulinism due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uveitis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.
Finland AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
Acquired hypoprothrombinemia
A rare hemorrhagic disorder characterized by decreased factor II plasma levels in association with severe liver disease, vitamin K deficiency, or vitamin K antagonist treatment, or in the context of other conditions such as systemic lupus erythematosus, primary antiphospholipid syndrome, or infections. Patients present with increased bleeding tendency leading to easy bruising, frequent nosebleeds, hemorrhaging after surgery or trauma, and heavy menstrual bleeding, among others. Joint bleeding is uncommon.
Worldwide AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000
Pseudo-Morquio syndrome type 2
Pseudo-Morquio type II syndrome
SEMD, Maroteaux type
SEMD-M
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Spondyloepimetaphyseal dysplasia, Maroteaux type
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io
DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
Metatropic dwarfism
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Worldwide AND has_cases/families_value : 81.0 (Case(s))
CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj
COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
A rare epilepsy syndrome characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.
ANEC
Isolated ANE
Isolated acute necrotizing encephalopathy
A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.
Acute necrotizing encephalopathy of childhood
Acral PSS
Localized PSS
PSS 2
Peeling skin syndrome 2
A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
Generalized PSS
Generalized deciduous skin
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
Generalized peeling skin syndrome type A
Non-inflammatory generalized peeling skin syndrome type A.
Non-inflammatory peeling skin syndrome type A
PSS type A
A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin.
Generalized peeling skin disease type B
Generalized peeling skin syndrome type B
Inflammatory peeling skin disease
Inflammatory peeling skin syndrome
PSS type B
PSS1
Peeling skin syndrome 1
A form of generalized peeling skin syndrome (PSS) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
OBSOLETE: Generalized deciduous skin type C
OBSOLETE: Generalized peeling skin syndrome type C
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Generalized peeling skin syndrome
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.
Microcephalic osteodysplastic primordial dwarfism types I and III
Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Inherited epidermolysis bullosa
OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
Microcephalic osteodysplastic primordial dwarfism type II
A group of rare chromosomal anomalies characterized by constitutional structural chromosomal rearrangements, including translocations, invertions, duplications and deletions, involving at least three breakpoints on two or more chromosomes. Individuals with such arrangements may display various phenotypes including cognitive impairment, congenital abnormalities and infertility, while some can also be phenotypically normal. Both de novo and familial forms are reported.
Complex chromosomal rearrangement syndrome
X chromosome number anomaly with female phenotype syndrome
X chromosome number anomaly with male phenotype syndrome
Partial monosomy of chromosome X
Partial deletion of chromosome X syndrome
Partial deletion of chromosome Xp
Partial deletion of the short arm of chromosome X
Partial monosomy of chromosome Xp
Partial monosomy of the short arm of chromosome X
Partial deletion of the short arm of the chromosome X syndrome
Partial deletion of chromosome Xq
Partial monosomy of chromosome Xq
Partial monosomy of the long arm of chromosome X
Partial deletion of the long arm of chromosome X syndrome
c-myb
MYB proto-oncogene, transcription factor
Partial trisomy of chromosome X
Partial duplication of chromosome X syndrome
Partial duplication of chromosome Xp
Partial trisomy of chromosome Xp
Partial trisomy of the short arm of chromosome X
Partial duplication of the short arm of chromosome X syndrome
Partial duplication of chromosome Xq
Partial trisomy of chromosome Xq
Partial trisomy of the long arm of chromosome X
Partial duplication of the long arm of chromosome X syndrome
UPD(X)
Uniparental disomy of chromosome X syndrome
Du Pan syndrome
A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).
Fibular aplasia-complex brachydactyly syndrome
LGMD1B
Limb-girdle muscular dystrophy due to lamin A/C deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
McAlister-Crane syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Atelosteogenesis type II
Lethal short-limb dwarfism, McAlister-Crane type
OBSOLETE: Micromelic dwarfism, Fryns type
14q22-q23 microdeletion syndrome
Del(14)(q22q23)
Monosomy 14q22-q23
Monosomy 14q22q23
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
Microcephalic primordial dwarfism, Toriello type
JP-2
JP2
junctophilin2
Partial duplication of chromosome 1p
Partial trisomy of chromosome 1p
Partial duplication of the short arm of chromosome 1 syndrome
Duplication 8p
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.
GLIALCAM
glial cell adhesion molecule
hepaCAM
hepatic and glial cell adhesion molecule
Osteoglophonic dwarfism
A rare primary bone dysplasia with disorganized development of skeletal components characterized by rhizomelic dwarfism, severe craniofacial dysmorphism including craniosynostosis, acrocephaly, a prominent forehead, midface hypoplasia, hypertelorism, depressed nasal bridge, anteverted nostrils, macroglossia, unerupted teeth. Patients also present with short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. Intelligence is not affected.
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Glycogen storage disease due to liver phosphorylase kinase deficiency
Parastremmatic dwarfism
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepimetaphyseal dysplasia, Maroteaux type
ILD specific to childhood
Interstitial lung disease specific to childhood
a7nAChR
acetylcholine receptor, nicotinic, alpha 7 (neuronal)
cholinergic receptor nicotinic alpha 7 subunit
Primary ILD specific to childhood
Primary interstitial lung disease specific to childhood
Primary ILD specific to childhood due to alveolar structure disorder
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
Congenital PAP
Congenital pulmonary alveolar proteinosis
A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.
Hereditary pulmonary alveolar proteinosis
Primary ILD specific to childhood due to alveolar vascular disorder
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.
Germany AND has_birth_prevalence_average_value : 4.17 AND has_birth_prevalence_range : 1-9 / 100 000
Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.
ILD specific to infancy
Interstitial lung disease specific to infancy
Secondary ILD specific to childhood associated with a systemic disease
Secondary interstitial lung disease specific to childhood associated with a systemic disease
Secondary ILD specific to childhood associated with a connective tissue disease
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
Secondary ILD specific to childhood associated with a systemic vasculitis
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
Secondary ILD specific to childhood associated with a granulomatous disease
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
Secondary ILD specific to childhood associated with a metabolic disease
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
OBSOLETE: Histiocytosis X specific to childhood
OBSOLETE: Langerhans cell granulomatosis specific to childhood
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Langerhans cell histiocytosis
OBSOLETE: Langerhans cell histiocytosis specific to childhood
ILD specific to adulthood
Interstitial lung disease specific to adulthood
Primary ILD specific to adulthood
Primary interstitial lung disease specific to adulthood
Secondary ILD specific to adulthood associated with a systemic disease
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
OBSOLETE: Histiocytosis X specific to adulthood
OBSOLETE: Langerhans cell granulomatosis specific to adulthood
OBSOLETE: Langerhans cell histiocytosis specific to adulthood
ILD in childhood and adulthood
Interstitial lung disease in childhood and adulthood
Primary ILD in childhood and adulthood
Primary interstitial lung disease in childhood and adulthood
Richieri Costa-Guion Almeida syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome
Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome
Primary ILD in childhood and adulthood due to alveolar structure disorder
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
Primary ILD in childhood and adulthood due to alveolar vascular disorder
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
Secondary ILD in childhood and adulthood
Secondary interstitial lung disease in childhood and adulthood
Secondary ILD in childhood and adulthood associated with a systemic disease
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
OBSOLETE: Histiocytosis X in childhood and adulthood
OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood
OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood
Secondary ILD in childhood and adulthood associated with a metabolic disease
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
Secondary ILD in childhood and adulthood associated with a systemic vasculitis
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
A rare secondary interstitial lung disease (ILD) characterized by development of the condition after exposure to certain drugs or radiation therapy. Diagnostic criteria include clear temporal association, identification of a characteristic reaction pattern to the respective drug, and exclusion of other causes of the ILD. Clinically, drug-induced ILD (DI-ILD) may occur as acute ILD with respiratory failure, or as subacute/chronic DI-ILD. Radiation injury to the lung can develop during or following radiation therapy and depends on the nature and dose of the ionizing radiation, as well as the direction of the radiation beam.
Drug or radiation exposure-related interstitial lung disease
Exposure-related interstitial lung disease
Genetic ILD
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rippling muscle disease
Autosomal dominant limb-girdle muscular dystrophy type 1C
OBSOLETE: Mollica-Pavone-Antener syndrome
OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome
RNU4ATAC1
U4atac
U4atac snRNA
OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome
OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome
OBSOLETE: Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome
OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Laplane-Fontaine-Lagardere syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Progressive pseudorheumatoid arthropathy of childhood
SPATA34
spermatogenesis associated 34
EPC-1
PIG35
alpha-2 antiplasmin
pigment epithelium-derived factor
proliferation-inducing protein 35
MRT14
very-long-chain enoyl-CoA reductase
A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
Denmark AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000
Ireland AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000
Latin America AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000
DFNA4B
CEA cell adhesion molecule 16, tectorial membrane component
processing of precursors 1
Lenz-Majewski hyperostotic dwarfism
Lenz-Majewski syndrome
A rare primary bone dysplasia characterized by growth delay, generalized and progressive craniotubular hyperostosis, intellectual disability, distinct craniofacial appearance, dental anomalies, loose skin, and distal-limb anomalies.
LGMD1A
Limb-girdle muscular dystrophy due to myotilin deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Distal myotilinopathy
Autosomal dominant limb-girdle muscular dystrophy type 1A
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3M syndrome
CD217
CDw217
IL-17RA
hIL-17R
IL-17F
ML-1
ML1
GluN2B
NR2B
glutamate ionotropic receptor NMDA type subunit 2B
ANT-1
Prp6
RP60
SNRNP102
TOM
hPrp6
TCAB1
WD-encoding RNA antisense to p53
telomerase cajal body protein 1
KARS1
KARS2
lysine tRNA ligase
Nasodigitoacoustic syndrome
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
Deafness-cataract-skeletal anomalies syndrome
Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.
A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable.
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.
Adult familial nephronophthisis-spastic quadriparesia syndrome
Edwards-Patton-Dilly syndrome
Nephropathy-hearing loss-hyperparathyroidism syndrome
A rare syndromic deafness characterized by renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia and sensorineural deafness. There have been no further descriptions in the literature since 1989.
Nephropathy-deafness-hyperparathyroidism syndrome
Braun-Bayer syndrome
Nephrosis-hearing loss-urinary tract-digital malformations syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.
Nephrosis-deafness-urinary tract-digital malformations syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2A
Calpain-3-related LGMD R1
LGMD type 2A
LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Limb-girdle muscular dystrophy type 2A
Primary calpainopathy
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
Italy AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000
Reunion AND has_point_prevalence_average_value : 4.8 AND has_point_prevalence_range : 1-9 / 100 000
Calpain-3-related limb-girdle muscular dystrophy R1
Microcoria-congenital nephrosis syndrome
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.
Worldwide AND has_cases/families_value : 98.0 (Case(s))
CDGAP
A rare multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, severe microcephaly, intrauterine growth restriction (IUGR), joint contractures, edema, cataracts and morphological central nervous system (CNS) abnormalities which results from distinct enzymatic deficiencies in the serine biosynthesis pathway. It is usually lethal at birth.
Worldwide AND has_cases/families_value : 91.0 (Case(s))
Pet191
Recurrent encephalophathy of childhood
A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.
CGI-132
bS16m
EF-TuMT
EFTU
EFTu
Tu translation elongation factor, mitochondrial
Freire Maia-Pinheiro-Opitz syndrome
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further descriptions in the literature since 1992.
Cyprus facial-neuromusculoskeletal syndrome
trnV
OBSOLETE: Maccario-Mena syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary renal tubular acidosis
OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome
Oerter-Friedman-Anderson syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Peripheral primitive neuroectodermal tumor
CALs syndrome isolated
Familial CALMs isolated
Familial isolated CALSs
Familial isolated café-au-lait spots
Multiple isolated café-au-lait spots
Multiple isolated café-au-lait syndrome
A rare hyperpigmentation of the skin characterized by the presence of several café-au-lait macules without any other manifestations of neurofibromatosis or any other systemic disorder. The macules may appear in infancy, but usually they are detected after 2 years of age. Hyperpigmented lesions may have smooth or irregular borders. Their size vary from a few millimeters to more than 10 cm.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Genetic peripheral neuropathy
Adenomucinosis
Gelatinous ascites
PMP
Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.
Netherlands AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Glutaric acidemia type 2
Glutaric aciduria type 2
MAD deficiency
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
Israel AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
Specific population AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 0.47 AND has_birth_prevalence_range : 1-9 / 1 000 000
ACADS deficiency
SCAD deficiency
SCADD
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
Netherlands AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
Short chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Australia AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000
Czech Republic AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Israel AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000
Very long chain acyl-CoA dehydrogenase deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2B
Dysferlin-related LGMD R2
LGMD due to dysferlin deficiency
LGMD type 2B
LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy type 2B
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000
Dysferlin-related limb-girdle muscular dystrophy R2
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
Hypomyelination neuropathy-arthrogryposis syndrome
MG1
MUC-5B
mucin MG1
HARSR
HO3
histidine tRNA ligase 2, mitochondrial (putative)
histidyl-tRNA synthetase 2, mitochondrial
JBTS12
CILD16
BIF1
KIAA0441
PATZ2
POZ (BTB) and AT hook containing zinc finger 2
zinc finger and BTB domain containing 24
RALD
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
RAS-associated autoimmune leukoproliferative disease
Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.
Orbital medulloepithelioma
Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.
Classic BCKD deficiency
Classic MSUD
Classic branched-chain alpha-ketoacid dehydrogenase deficiency
Classic branched-chain ketoaciduria
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Intermediate BCKD deficiency
Intermediate MSUD
Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
Intermittent BCKD deficiency
Intermittent MSUD
Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
Thiamine-responsive BCKD deficiency
Thiamine-responsive MSUD
Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.
Thiamine-responsive maple syrup urine disease
NON RARE IN EUROPE: Pigment-dispersion syndrome
MMF embryopathy
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.
21q22.13q22.2 microdeletion syndrome
Monosomy 21q22.13q22.2
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Europe AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
Hereditary isolated thrombocytopenia with normal platelets size
ten-eleven translocation 2
RI-CMT
Autosomal recessive intermediate Charcot-Marie-Tooth disease
CLN14
potassium channel tetramerization domain containing 7
APH2
KIAA0253
PEN2
presenilin enhancer, gamma-secretase subunit
Open spina bifida
Spina bifida aperta
A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.
France AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 51.5 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 400.0 AND has_birth_prevalence_range : >1 / 1000
Latin America AND has_birth_prevalence_average_value : 62.0 AND has_birth_prevalence_range : 6-9 / 10 000
United Kingdom AND has_point_prevalence_average_value : 400.0 AND has_point_prevalence_range : >1 / 1000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Open spinal dysraphism
OBSOLETE: Thoracolumbosacral spina bifida aperta
OBSOLETE: Lumbosacral spina bifida aperta
OBSOLETE: Cervicothoracic spina bifida aperta
A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to T-cell large granular lymphocyte leukemia
Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome
OBSOLETE: Upper thoracic spina bifida aperta
Spina bifida cystica
A rare spinal dysraphism characterized by the presence of a posteriorly located sac containing cerebrospinal fluid.
Saudi Arabia AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000
Spinal dysraphism with a posterior meningocele
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Spinal dysraphism with a posterior meningocele
OBSOLETE: Thoracolumbosacral spina bifida cystica
OBSOLETE: Lumbosacral spina bifida cystica
OBSOLETE: Cervicothoracic spina bifida cystica
OBSOLETE: Upper thoracic spina bifida cystica
BRCC36
C6.1A
Lys-63-specific deubiquitinase
BRCA1/BRCA2-containing complex subunit 3
Adult chronic idiopathic neutropenia
A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.
Chisel
Csl
DFNX4
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non terminal myelocystocele).
A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Dysraphic spinal cord lipoma
OBSOLETE: Lipoma associated with neurospinal dysraphism
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Conus spinal cord lipoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Conus spinal cord lipoma
Malformation of the neurenteric canal, spinal cord and column
Primary tethered spinal cord syndrome
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.
A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.
A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary syringomyelia
OBSOLETE: Primary syringomyelia/hydromyelia
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cyclic neutropenia
OBSOLETE: Isolated macrencephaly
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated megalencephaly
Midline brain malformation
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.
Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
Brain cortical dysplasia
FCD type I
Isolated focal cortical dysplasia type I
FCD type Ia
Isolated focal cortical dysplasia type Ia
FCD type Ib
Isolated focal cortical dysplasia type Ib
FCD type Ic
Isolated focal cortical dysplasia type Ic
Cortical dysplasia, Taylor type
FCD type II
Isolated focal cortical dysplasia type 2
Isolated focal cortical dysplasia type II
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
Europe AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 3.95 AND has_point_prevalence_range : 1-9 / 100 000
Neutropenia-monocytopenia-hearing loss syndrome
A rare syndrome characterized by congenital neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. Patients present with severe recurrent bacterial infections that may lead to bacterial septicemia. There have been no further descriptions in the literature since 1983.
Neutropenia-monocytopenia-deafness syndrome
FCD type IIa
Isolated focal cortical dysplasia type IIa
FCD type IIb
Isolated focal cortical dysplasia type IIb
Cerebral gigantism, Nevo type
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Central nervous system cystic malformation
Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated posterior fossa cystic malformation
A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.
Isolated total cerebellar vermis agenesis
Isolated partial cerebellar vermis agenesis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated Dandy-Walker malformation
OBSOLETE: Isolated Dandy-Walker malformation with hydrocephalus
OBSOLETE: Isolated Dandy-Walker malformation without hydrocephalus
Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.
Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.
Isolated bilateral hemispheric cerebellar hypoplasia
Diffuse cerebellar malformation
PTCD
A rare syndrome with a brainstem malformation as a major feature characterized by ventral pontine hypoplasia, dorsal cap projection into the forth ventricle and cranial nerve dysfunction. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Linear nevus sebaceus syndrome
OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
Congenital non-obstructive hydrocephalus
Congenital obstructive hydrocephalus
Congenital non-communicating hydrocephalus
Syndrome with a cerebellar malformation as a major feature
Syndrome with microcephaly as a major feature
Other syndrome with a central nervous system malformation as a major feature
Syndrome with a Dandy-Walker malformation as a major feature
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Genetic central nervous system malformation
OBSOLETE: Genetic non-syndromic central nervous system malformation
Genetic brain malformation
OBSOLETE: Genetic posterior fossa malformation
Genetic syndrome with a CNS malformation as major feature
Genetic syndrome with a central nervous system malformation as a major feature
Genetic syndrome with a cerebellar malformation as a major feature
Genetic syndrome with a Dandy-Walker malformation as a major feature
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
KIAA1270
alanine tRNA ligase 2, mitochondrial
FAM20A golgi associated secretory pathway pseudokinase
ARC syndrome
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
Arthrogryposis-renal dysfunction-cholestasis syndrome
glycogenin glucosyltransferase
GTC90
DPM synthase complex subunit
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
COD1
Bart-Pumphrey syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
COLEC5
SP-A2
surfactant, pulmonary-associated protein A2A
A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.
14-3-3 epsilon
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
JFP11
TMEM112A
Methylmalonyl-CoA mutase deficiency
Methylmalonyl-Coenzyme A mutase deficiency
Vitamin B12-unresponsive methylmalonic aciduria
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.
Vitamin B12-unresponsive methylmalonic acidemia
OPMD
A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.
France AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_average_value : 100.0 AND has_point_prevalence_range : >1 / 1000
Specific population AND has_point_prevalence_average_value : 167.0 AND has_point_prevalence_range : >1 / 1000
Cancrum oris
An orofacial gangrenous disease characterized by the rapid, severe destruction of the soft and osseous tissues of the face.
HCAK1
dual specificity tyrosine phosphorylation regulated kinase 1A
KIAA0092
TSP57
Translokin
CXXC9
MCMT
HuncM-IC
MYO1C
myosin-IC
AP-4-EPSILON
SPG51
adaptor related protein complex 4 subunit epsilon 1
AP-4 complex subunit beta-1
BETA-4
beta 4 subunit of AP-4
adaptor related protein complex 4 subunit beta 1
AP47B
CLA20
SPG52
adaptor related protein complex 4 subunit sigma 1
PHOX1
Mazzanti syndrome
NS/LAH
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.
Noonan syndrome-like disorder with loose anagen hair
DFNB95
GIPC PDZ domain containing family member 3
Nova syndrome
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
PFM2
ZFYVE7
FYVE and coiled-coil domain autophagy adaptor 1
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
Phospholipase C d1
Phospholipase C δ1
EPPB9
MKS9
MKSR-1
endothelial precursor protein B9
SWIP
strumpellin and WASH-interacting protein
Hydronephrosis-inverted smile syndrome
Inverted smile-neurogenic bladder syndrome
Ochoa facial syndrome
Ochoa syndrome
Partial facial palsy with urinary abnormalities
A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.
GLEPP1
NPHS6
PTP-U2
PTP-oc
PTPU2
osteoclastic transmembrane protein-tyrosine phosphatase
protein tyrosine phosphatase receptor type O
DFNA64
DIABLO-S
SMAC
second mitochondria-derived activator of caspase
diablo IAP-binding mitochondrial protein
3M3
PPP1R20
p90
protein phosphatase 1, regulatory subunit 20
coiled-coil domain containing 8 subunit of 3M complex
CYTSA
KIAA0376
cytokinesis and spindle organization A
sperm antigen with calponin homology and coiled-coil domains 1 like
OBSOLETE: Behrens-Baumann-Vogel syndrome
OBSOLETE: Microphthalmia-optic nerve aplasia syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated optic nerve aplasia
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.
Oculocerebrofacial syndrome, Kaufman type
OBSOLETE: Plum syndrome
Gingival hypertrophy-corneal dystrophy
Rutherfurd syndrome
Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.
Worldwide AND has_cases/families_value : 243.0 (Case(s))
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.
Oculo-palato-cerebral dwarfism
A rare orofacial clefting syndrome characterized by persistent hyperplastic primary vitreous, microphthalmia, microcephaly, small hands and feet, and mild-to-severe intellectual disability. Facial dysmorphic features include bulbous nose, full cheeks, and a cleft palate. Other symptoms may include cerebral atrophy, hearing loss and atopic dermatitis.
Hunter-Jurenka-Thompson syndrome
ORC syndrome
Oculorenocerebellar syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.
MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.
Cecato de Lima-Pinheiro syndrome
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.
Genetic mesenchymal tumor
ATTRv amyloidosis
Familial TTR-related amyloidosis
Familial transthyretin-related amyloidosis
Hereditary TTR amyloid polyneuropathy
Hereditary TTR amyloidosis
Hereditary transthyretin amyloid polyneuropathy
hATTR
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
Argentina AND has_point_prevalence_average_value : 0.1474 AND has_point_prevalence_range : 1-9 / 1 000 000
Australia AND has_point_prevalence_average_value : 0.147 AND has_point_prevalence_range : 1-9 / 1 000 000
Austria AND has_point_prevalence_average_value : 0.1511 AND has_point_prevalence_range : 1-9 / 1 000 000
Bangladesh AND has_point_prevalence_average_value : 0.1484 AND has_point_prevalence_range : 1-9 / 1 000 000
Belgium AND has_point_prevalence_average_value : 0.1504 AND has_point_prevalence_range : 1-9 / 1 000 000
Bulgaria AND has_point_prevalence_average_value : 0.5694 AND has_point_prevalence_range : 1-9 / 1 000 000
Canada AND has_point_prevalence_average_value : 0.1476 AND has_point_prevalence_range : 1-9 / 1 000 000
China AND has_point_prevalence_average_value : 0.1481 AND has_point_prevalence_range : 1-9 / 1 000 000
Cyprus AND has_point_prevalence_average_value : 4.25 AND has_point_prevalence_range : 1-9 / 100 000
Czech Republic AND has_point_prevalence_average_value : 0.1509 AND has_point_prevalence_range : 1-9 / 1 000 000
Denmark AND has_point_prevalence_average_value : 0.1403 AND has_point_prevalence_range : 1-9 / 1 000 000
Ecuador AND has_point_prevalence_average_value : 0.149 AND has_point_prevalence_range : 1-9 / 1 000 000
Finland AND has_point_prevalence_average_value : 0.1454 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 0.7514 AND has_point_prevalence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 0.1486 AND has_point_prevalence_range : 1-9 / 1 000 000
Greece AND has_point_prevalence_average_value : 0.1481 AND has_point_prevalence_range : 1-9 / 1 000 000
Hungary AND has_point_prevalence_average_value : 0.153 AND has_point_prevalence_range : 1-9 / 1 000 000
India AND has_point_prevalence_average_value : 0.1481 AND has_point_prevalence_range : 1-9 / 1 000 000
Ireland AND has_point_prevalence_average_value : 0.1578 AND has_point_prevalence_range : 1-9 / 1 000 000
Israel AND has_point_prevalence_average_value : 0.1428 AND has_point_prevalence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.9046 AND has_point_prevalence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 0.0968 AND has_point_prevalence_range : <1 / 1 000 000
Korea, Republic of AND has_point_prevalence_average_value : 0.1482 AND has_point_prevalence_range : 1-9 / 1 000 000
Luxembourg AND has_point_prevalence_average_value : 0.1666 AND has_point_prevalence_range : 1-9 / 1 000 000
Malaysia AND has_point_prevalence_average_value : 0.1485 AND has_point_prevalence_range : 1-9 / 1 000 000
Mexico AND has_point_prevalence_average_value : 0.148 AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 0.2662 AND has_point_prevalence_range : 1-9 / 1 000 000
New Zealand AND has_point_prevalence_average_value : 0.1521 AND has_point_prevalence_range : 1-9 / 100 000
Poland AND has_point_prevalence_average_value : 0.1473 AND has_point_prevalence_range : 1-9 / 1 000 000
Portugal AND has_point_prevalence_average_value : 19.9126 AND has_point_prevalence_range : 1-5 / 10 000
Romania AND has_point_prevalence_average_value : 0.1464 AND has_point_prevalence_range : 1-9 / 1 000 000
Russian Federation AND has_point_prevalence_average_value : 0.1485 AND has_point_prevalence_range : 1-9 / 1 000 000
Slovenia AND has_point_prevalence_average_value : 0.1428 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.1487 AND has_point_prevalence_range : 1-9 / 1 000 000
Sri Lanka AND has_point_prevalence_average_value : 0.1476 AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_average_value : 2.5816 AND has_point_prevalence_range : 1-9 / 100 000
Switzerland AND has_lifetime_prevalence_average_value : 0.1445 AND has_lifetime_prevalence_range : 1-9 / 1 000 000
Taiwan, Province of China AND has_point_prevalence_average_value : 0.1489 AND has_point_prevalence_range : 1-9 / 1 000 000
Turkey AND has_point_prevalence_average_value : 0.0317 AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.149 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.2222 AND has_point_prevalence_range : 1-9 / 1 000 000
Rare genetic systemic or rheumatologic disease
Cross syndrome
Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
Oculocerebral hypopigmentation syndrome, Cross type
FCMD
FKTN-related congenital muscular dystrophy
Fukuyama congenital muscular dystrophy
A rare congenital progressive muscular dystrophy often characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
Japan AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000
Congenital muscular dystrophy, Fukuyama type
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.
Oculocerebral hypopigmentation syndrome, Preus type
OODD
A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.
Odonto-onycho dysplasia-alopecia syndrome
Freire-Maia syndrome
A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported.
Bader syndrome
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.
Odontomatosis-aortae esophagus stenosis syndrome
Al Gazali-Al Talabani syndrome
Al Gazali-Lytle syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Eye defects-arachnodactyly-cardiopathy syndrome
BMRS, Ohdo type
Blepharophimosis syndrome, Ohdo type
Ohdo syndrome
Ohdo-Madokoro-Sonoda syndrome
A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Blepharophimosis-intellectual disability syndrome, Ohdo type
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Myotonic dystrophy type 1
Steinert disease
A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.
Croatia AND has_point_prevalence_average_value : 18.1 AND has_point_prevalence_range : 1-5 / 10 000
Iceland AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000
Ireland AND has_point_prevalence_average_value : 11.95 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_point_prevalence_average_value : 9.31 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 9.13 AND has_point_prevalence_range : 1-9 / 100 000
Serbia AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Serbia AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000
South Africa AND has_point_prevalence_average_value : 14.3 AND has_point_prevalence_range : 1-5 / 10 000
Specific population AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
Specific population AND has_point_prevalence_average_value : 210.5 AND has_point_prevalence_range : >1 / 1000
Specific population AND has_point_prevalence_average_value : 5.7 AND has_point_prevalence_range : 1-9 / 100 000
Specific population AND has_point_prevalence_average_value : 76.3 AND has_point_prevalence_range : 6-9 / 10 000
Taiwan, Province of China AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 10.4 AND has_point_prevalence_range : 1-5 / 10 000
Worldwide AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypohidrotic ectodermal dysplasia
Taurodontia-absent teeth-sparse hair syndrome
Olivopontocerebellar atrophy-hearing loss syndrome
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
Olivopontocerebellar atrophy-deafness syndrome
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
Czeizel syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.
Lethal omphalocele-cleft palate syndrome
A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.
Itin syndrome
ONMR syndrome
Trichothiodystrophy type G
Onycho-tricho-dysplasia-neutropenia syndrome
ANCO-1
ANCO1
LZ16
T13
ankyrin repeats containing cofactor 1
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
DCR
HCR2
KIDCR
P34H
SDR20C1
human carbonyl reductase 2
kidney dicarbonyl reductase
short chain dehydrogenase/reductase family 20C, member 1
sperm surface protein P34H
OMM syndrome
Pillay syndrome
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome
NFE1B
JBTS13
TECT1
RP62
Levic-Stefanovic-Nikolic syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
HGPPS
Progressive external ophthalmoplegia and scoliosis
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
Horizontal gaze palsy with progressive scoliosis
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.
A rare skeletal dysplasia characterized by pre-or postnatal severe rhizomelic micromelia with short long bones (congenital dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular hypotonia and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported.
Oroacral syndrome
Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).
SCID T-B-NK+ due to ARTEMIS deficiency
SCID T-B-NK+ due to DCLRE1C deficiency
SCID T-B-NK+, Athabascan type
SCID T-B-NK+, Athabaskan type
T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency
T-B-NK+ severe combined immunodeficiency, Athabascan type
T-B-NK+ severe combined immunodeficiency, Athabaskan type
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
A rare neurodevelopmental disorder in the ciliopathy group characterized by variable anomalies in affected females including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and viscera (kidneys, pancreas and ovaries). In males, it is mostly lethal, typically during the first or second trimester of pregnancy.
Europe AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
A rare developmental disorder in the ciliopathy group characterized by craniofacial, oral and digital features.
OFD3
Oral-facial-digital syndrome type 3
Sugarman syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Orofaciodigital syndrome type 6
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly, mesomelic shortening of the legs (tibial hypoplasia), nonspecific orofacial features, and variable involvement of viscera (kidneys, liver) and the central nervous system.
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
OFD8
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome, Edwards type
Orofaciodigital syndrome, Edwards type
A rare orofaciodigital syndrome characterized by hypertelorism, telecanthus, broad and bifid nasal tip, median cleft of the upper lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, hypoplasia of the epiglottis, arytenoid cartilages, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, bifid halluces, short stature, and mild intellectual deficiency. Absent corpus callosum, hydrocephalus, atrioventricular septal defect and recurrent aspiration pneumonia, have also been reported. There have been no further descriptions in the literature since 1993.
ALPS-recurrent viral infections due to CASP8 deficiency
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency
CEDS
Caspase 8 deficiency syndrome
A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
DALD
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.
Dianzani autoimmune lymphoproliferative disease
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare genetic disease
OBSOLETE: Myostatin-related muscle hypertrophy
CRASH syndrome
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
L1CAM syndrome
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
Europe AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000
OBSOLETE: Figuera syndrome
OBSOLETE: OFD10
OBSOLETE: Oral-facial-digital syndrome type 10
OBSOLETE: Orofaciodigital syndrome with fibular aplasia
OBSOLETE: Orofaciodigital syndrome type 10
Rare bleeding disorder due to a constitutional thrombocytopenia
Rare bleeding disorder due to a quantitative platelet defect
Rare coagulopathy due to a constitutional thrombocytopenia
Rare coagulopathy due to a quantitative platelet defect
Rare hemorrhagic disorder due to a quantitative platelet defect
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Rare bleeding disorder due to a constitutional thrombopathy
Rare bleeding disorder due to a qualitative platelet defect
Rare coagulopathy due to a constitutional thrombopathy
Rare coagulopathy due to a qualitative platelet defect
Rare hemorrhagic disorder due to a constitutional thrombopathy
Rare hemorrhagic disorder due to a qualitative platelet defect
LAL deficiency
LALD
A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.
Czech Republic AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000
IPAH
Primary pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.
Belgium AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 0.59 AND has_point_prevalence_range : 1-9 / 1 000 000
Israel AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000
Israel AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.56 AND has_point_prevalence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_point_prevalence_average_value : 0.86 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000
Idiopathic pulmonary arterial hypertension
FPAH
Familial pulmonary arterial hypertension
HPAH
Hereditary pulmonary arterial hypertension
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
Czech Republic AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
Heritable pulmonary arterial hypertension
Drug- or toxin-induced PAH
Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.
France AND has_point_prevalence_range : 1-9 / 1 000 000
Drug- or toxin-induced pulmonary arterial hypertension
PAH associated with another disease
Secondary PAH
Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia,which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.
Pulmonary arterial hypertension associated with another disease
PAH associated with connective tissue disease
A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.
Czech Republic AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000
Pulmonary arterial hypertension associated with connective tissue disease
PAH associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.
Czech Republic AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 0.57 AND has_point_prevalence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.95 AND has_point_prevalence_range : 1-9 / 1 000 000
Pulmonary arterial hypertension associated with congenital heart disease
PAH associated with HIV infaction
A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.
Pulmonary arterial hypertension associated with HIV infection
PAH associated with portal hypertension
POPH
Portopulmonary hypertension
Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.
Pulmonary arterial hypertension associated with portal hypertension
PAH associated with schistosomiasis
Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis.
Pulmonary arterial hypertension associated with schistosomiasis
PAH associated with chronic hemolytic anemia
Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.
Pulmonary arterial hypertension associated with chronic hemolytic anemia
PH due to lung disease and/or hypoxia
PH owing to lung disease and/or hypoxia
Pulmonary hypertension due to lung disease and/or hypoxia
Pulmonary hypertension owing to lung disease and/or hypoxia
PH with unclear multifactorial mechanism
Pulmonary hypertension with unclear multifactorial mechanism
Syndrome with pulmonary hypertension as a major feature
bv-FTD
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
Netherlands AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
Behavioral variant of frontotemporal dementia
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.
Frontotemporal dementia with motor neuron disease
Seghers syndrome
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Imperforate oropharynx-costovertebral anomalies syndrome
HDFN
Hemolytic disease of the fetus and newborn
Hemolytic disease due to fetomaternal alloimmunization
Anti-K HDN
Maternal anti-Kell alloimmunization
A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.
United Kingdom AND has_annual_incidence_average_value : 116.0 AND has_annual_incidence_range : >1 / 1000
Hemolytic disease of the newborn with Kell alloimmunization
SCIDX1
T-B+K- severe combined immunodeficiency, X-linked
T-B+NK- SCID due to gamma chain deficiency
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
T-B+NK- severe combined immunodeficiency due to gamma chain deficiency
Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
Genetic neurodegenerative disease with dementia
Genetic frontotemporal degeneration with dementia
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.
Bile acid CoA ligase deficiency and defective amidation
A rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.
Austria AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 1.121 AND has_annual_incidence_range : 1-9 / 100 000
Bulgaria AND has_annual_incidence_average_value : 1.026 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 1.261 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 1.113 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 1.127 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.73 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 1.093 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 0.986 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.809 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.737 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 1.227 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 1.213 AND has_annual_incidence_range : 1-9 / 100 000
Malta AND has_annual_incidence_average_value : 0.817 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.786 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.864 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.937 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.899 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.99 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.919 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.906 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.906 AND has_annual_incidence_range : 1-9 / 1 000 000
Malignant epithelial tumor of salivary glands
Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.
Benign epithelial tumor of salivary glands
MEN4
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
MEN
Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.
Ireland AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.
Cerebellar ataxia with azoospermia and intellectual disability
SCA32
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.
SCA35
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.
Asidan
SCA36
An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
Familial ectopic ossification
POH
Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
Worldwide AND has_cases/families_value : 78.0 (Case(s))
Arylsulfatase B deficiency, rapidly progressing
MPS6, rapidly progressing
MPSVI, rapidly progressing
Mucopolysaccharidosis type VI, rapidly progressing
Mucopolysaccharidosis type 6, rapidly progressing
Arylsulfatase B deficiency, slowly progressing
MPS6, slowly progressing
MPSVI, slowly progressing
Mucopolysaccharidosis type VI, slowly progressing
Mucopolysaccharidosis type 6, slowly progressing
Non-syndromic male infertility due asthenozoospermia
Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.
Non-syndromic male infertility due to sperm motility disorder
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
OBSOLETE: XPA
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Xeroderma pigmentosum
OBSOLETE: Xeroderma pigmentosum complementation group A
OBSOLETE: XPB
OBSOLETE: Xeroderma pigmentosum complementation group B
OBSOLETE: XPC
OBSOLETE: Xeroderma pigmentosum complementation group C
OBSOLETE: XPD
OBSOLETE: Xeroderma pigmentosum complementation group D
OBSOLETE: XPE
OBSOLETE: Xeroderma pigmentosum complementation group E
OBSOLETE: XPF
OBSOLETE: Xeroderma pigmentosum complementation group F
OBSOLETE: XPG
OBSOLETE: Xeroderma pigmentosum complementation group G
NON RARE IN EUROPE: Analbuminemia
NON RARE IN EUROPE: Bisalbuminemia
NON RARE IN EUROPE: FDH
NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia
HHML
Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
Hemihyperplasia-multiple lipomatosis syndrome
Gracile bone dysplasia
Osteocraniosplenic syndrome
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
FMNG
Familial MNG
Familial multinodular goiter syndrome
A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.
König disease
Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
Europe AND has_point_prevalence_average_value : 35.0 AND has_point_prevalence_range : 1-5 / 10 000
OBSOLETE: Limbic encephalitis with caspr2 antibodies
Green jaundice
Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.
Deletion 10q22.3q23.3
Monosomy 10q22.3q23.3
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
Trisomy 10q22.3q23.3
A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.
A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present.
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
LOSMoN
Late-onset spinal motor neuronopathy
SMAJ
Spinal muscular atrophy, Jokela type
A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.
Lower motor neuron syndrome with late-adult onset
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Cantú syndrome
OBSOLETE: Hypertrichotic osteochondrodysplasia
Familial hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Dominant KATP hyperinsulinism due to Kir6.2 deficiency
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant hyperinsulinemic hypoglycemia
A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
NIPHS
A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.
Non-insulinoma pancreatogenous hypoglycemia syndrome
A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.
Sporadic pheochromocytoma/secreting paraganglioma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Sporadic pheochromocytoma/secreting paraganglioma
OBSOLETE: Sporadic secreting paraganglioma
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.
Symptomatic form of Coffin-Lowry syndrome in female carriers
Maroteaux-Le Merrer-Bensahel syndrome
A rare primary bone dysplasia with disorganized development of skeletal components characterized by a dysplasia epiphysealis hemimelica, intracapsular or periarticular chondromas of the knee, extraskeletal chondromas, and osteochondromas in various combinations. Patients may present with deformity, swelling, restricted mobility and limited flexion or locking of the affected area. There have been no further descriptions in the literature since 1993.
Infantile tibia vara
Osteochondrosis deformans tibiae
Tibia vara Blount
A rare primary bone dysplasia characterized by disordered endochondral ossification of the medial part of the proximal tibial physis leading to multiplanar deformities of the lower limb. Patients present with bow-legged deformity with bone angulation just below the knee which is mostly bilateral. Severe deformity may result in early degenerative arthritis of the knee. It may occur as an isolated condition or as a part of a syndrome. It mostly occurs in infancy, however adolescence-onset patients have also been reported. Risk factors may include obesity and early walking.
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.
ADA deficiency
T-B-NK- SCID due to adenosine deaminase deficiency
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency
NHD
PLOSL
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Finland AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
Osteogenesis imperfecta-congenital joint contractures syndrome
A rare genetic bone disease characterized by the association of osteogenesis imperfecta and congenital joint contractures.
A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Al Gazali-Nair syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Idiopathic multicentric osteolysis with or without nephropathy
A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Multicentric carpo-tarsal osteolysis with or without nephropathy
Hereditary multicentric osteolysis
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multicentric osteolysis-nodulosis-arthropathy spectrum
Autosomal recessive carpotarsal osteolysis
Distal osteolysis-short stature-intellectual disability syndrome
Petit-Fryns syndrome
A rare primary osteolysis characterized by severe distal osteolysis, mild to moderate intellectual deficiency, short stature, and facial dysmorphism (including maxillary hypoplasia, relative exophthalmos, and broad nasal tip). Patients present with early-onset and rapidly progressive osteolysis, manifests as severe resorption abnormalities in the hands and feet with absence of the distal and middle phalanges. Distal ulnar and radial epiphyses may also be affected. Joint limitation and flexion contractures of the elbows and knees have also been reported. There have been no further descriptions in the literature since 1993.
Autosomal recessive distal osteolysis syndrome
Axial osteosclerosis
Osteomesopycnosis
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.
OBSOLETE: Juvenile CRMO
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis
Whyte-Murphy syndrome
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Corticobasal syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Osteopathia striata-cranial sclerosis syndrome
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Osteopetrosis with renal tubular acidosis
Hernández-Fragoso syndrome
OOCHS
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.
Osteoporosis-oculocutaneous hypopigmentation syndrome
OBSOLETE: Heide syndrome
OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
OPPG
A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures.
Lehman syndrome
A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.
NON RARE IN EUROPE: Age-related macular degeneration
Autosomal dominant osteosclerosis, Worth type
Worth syndrome
A rare primary bone dysplasia characterized by increased and diffuse skeletal densification, particularly of the cranial vault and tubular long bones, that is not associated with an increased risk of fracture. Craniofacial anomalies usually develop during adolescence and include a prominent forehead, wide and deep mandibles, a flat nasal bridge, taurus palatinus and an increased gonial angle. Neurological complications are present in approximately one fifth of affected patients, usually in the form of entrapment neuropathies such as hearing loss, and are secondary to nerve tissue compression by hyperostotic bone, cerebellar disturbances due to a reduction in size of the posterior cranial fossa or tonsillar herniation, and chronic intracranial hypertension.
Globodontia
Otodental dysplasia
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
Fara-Chlupackova syndrome
OFC syndrome
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.
NON RARE IN EUROPE: Familial otosclerosis
Fowler syndrome
Fowler-Christmas-Chapple syndrome
A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.
Fowler urethral sphincter dysfunction syndrome
Touraine-Solente-Gole syndrome
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.
Worldwide AND has_cases/families_value : 204.0 (Case(s))
KIAA0540
KIAA1395
ZIR1
TGY
protein-glutamine gamma-glutamyltransferase 6
spinocerebellar ataxia 35
spinocerebellar ataxia 36
CATSPER
MGC4093
MKS10
MKSR-2
Alpha 1,2-mannosidase
ER alpha 1,2-mannosidase
ERMan1
ERManI
Endoplasmic reticulum alpha-mannosidase 1
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
MANA-ER
MRT15
Man9GlcNAc2-specific processing alpha-mannosidase
alpha 1,2-mannosidase
endoplasmic Reticulum Class I alpha-mannosidase
CRSP130
DRIP130
Sur2
UNC104
CDO
CDON1
Ihog
ORCAM
cell adhesion molecule-related/down-regulated by oncogenes
cell adhesion associated, oncogene regulated
DNAJC5A
DnaJ heat shock protein family (Hsp40) member C5
Kuzniecky syndrome
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
Pachygyria-intellectual disability-epilepsy syndrome
CP24
lncBCAS1-4_1
cytochrome P450 family 24 subfamily A member 1
Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquine (CQ) or hydroxychloroquine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.
Toxic maculopathy due to antimalarial drugs
Primary oculocerebral non-Hodgkin lymphoma
Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.
OBSOLETE: PIOL
OBSOLETE: Primary intraocular non-Hodgkin lymphoma
OBSOLETE: Primary vitreoretinal large B-cell lymphoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary vitreoretinal large B-cell lymphoma
A rare ophthalmic disorder characterized by intraocular inflammation primarily localized to the vitreous and peripheral retina. It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia. On examination, snow banking, vitreous snowballs, peripheral retinal vascular sheathing, vitreous cells, and vitreous haze can be seen. Complications include epiretinal membrane formation, cataract formation, cystoid macular edema, or band keratopathy, among others. The condition may be idiopathic or occur in the context of infectious or systemic diseases.
A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection, keratic precipitates, retrolental cells, inflammatory infiltrates on the retina, macular edema, and peripheral retinal neovascularization, among others. Complications (such as cataracts, band keratopathy, glaucoma, cystoid macula edema, and retinal detachment) may lead to permanent vision loss.
United States AND has_point_prevalence_average_value : 23.4 AND has_point_prevalence_range : 1-5 / 10 000
A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others.
United States AND has_point_prevalence_average_value : 27.7 AND has_point_prevalence_range : 1-5 / 10 000
A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms include pain, photophobia, redness, blurring of vision, and floaters. Signs on examination are lid edema, ciliary injection, chemosis, keratic precipitates, cells in the anterior chamber, hypopyon, iris nodules and neovascularization, posterior synechiae, macular edema, vitreous and retinal hemorrhage, and retinal detachment, among others. Complications may result in visual loss.
United States AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
A rare ophthalmic disorder characterized by a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the tumor diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters, and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. Other ocular and/or extra-ocular manifestations are commonly present in addition.
A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.
POIS
Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.
Adenosylcobalamin deficiency
Vitamin B12-responsive methylmalonic aciduria
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).
Worldwide AND has_cases/families_value : 192.0 (Case(s))
Vitamin B12-responsive methylmalonic acidemia
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.
A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.
A rare, life-threatening, non-inflammatory vasculopathy characterized clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.
A rare, life-threatening, non-inflammatory vasculopathy characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
KIAA0266
Class VI beta-tubulin
class VI beta-tubulin
Familial osteoectasia
Hereditary hyperphosphatasia
Hyperostosis corticalis deformans juvenilis
JPG
Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
NON RARE IN EUROPE: Osteitis deformans
NON RARE IN EUROPE: Paget disease of bone
autophagy receptor p62
p60
p62B
C3 deficiency
Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.
CID due to LCK deficiency
CID due to lymphocyte-specific protein tyrosine kinase deficiency
Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.
Combined immunodeficiency due to LCK deficiency
LCK proto-oncogene, Src family tyrosine kinase
Methylmalonic acidemia, TCb1R type
Methylmalonic acidemia, TCbIR type
Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.
Methylmalonic aciduria due to transcobalamin receptor defect
8D6
8D6 antigen
8D6A
TCII-R
TCN2R
TCblR
Transcobalamin receptor
sCD320
soluble CD320
transcobalamin 2 receptor
Septopreoptic HPE
A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
X-linked sideroblastic anemia and spinocerebellar ataxia
HPE, minor form
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.
LTEC0
Laryngo-tracheo-esophageal cleft type 0
Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.
Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
Europe AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000
Pelizaeus-Merzbacher disease, connatal form
Classic PMD
The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
Europe AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000
Pelizaeus-Merzbacher disease, classic form
Transitional PMD
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
Pelizaeus-Merzbacher disease in female carriers
PLP1 null syndrome
Pelizaeus-Merzbacher disease, null syndrome
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
PMLD
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).
PMLD1
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Mitochondrial HSP60 chaperonopathy
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
AIP type 1
IgG4-related pancreatitis
Lymphoplasmacytic sclerosing pancreatitis
Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.
AIP type 2
Duct-centric pancreatitis
Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.
12p13.33 microdeletion syndrome
Distal monosomy 12p
A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Alpha-dystroglycan-related LGMD R16
Autosomal recessive limb-girdle muscular dystrophy type 2P
LGMD type 2P
LGMD2P
Limb-girdle muscular dystrophy type 2P
A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Rare systemic or rheumatological disease of childhood
156DAG
A3a
AGRNR
DAG
alpha-dystroglycan
beta-dystroglycan
dystrophin-associated glycoprotein-1
FPLD4
PLIN1-related FPLD
A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.
PLIN1-related familial partial lipodystrophy
A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.
Autosomal semi-dominant severe lipodystrophic laminopathy
A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.
Erythropoietic uroporphyria associated with myeloid malignancy
IDMDC
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Erlin-2
NET32
Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.
Pallister-W syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.
Familial prion disease
Genetic human prion disease
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
Familial omphalocele syndrome with facial dysmorphism
Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
CGI-10
Congenital pancreatic agenesis
Partial agenesis of the pancreas
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.
Fatal infantile hypertonic myofibrillar myopathy
WABS
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.
CHL1
CHL1-like helicase homolog (S. cerevisiae)
CHLR1
ChlR1
KRG-2
KRG2
Keratinocyte growth factor-regulated gene 2
Warsaw Breakage Syndrome
OBSOLETE: Crescentic glomerulonephritis
OBSOLETE: RPGN
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Glomerular disease
OBSOLETE: Rapidly progressive glomerulonephritis
NGPS
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.
BAF
barrier to autointegration nuclear assembly factor 1
gPAPP deficiency
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Chondrodysplasia with joint dislocations, gPAPP type
Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase
IMPA3
gPAPP
golgi-resident nucleotide phosphatase
A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.
Hereditary sensorimotor neuropathy with hyperelastic skin
Dawson encephalitis
SSPE
Subacute inclusion body encephalitis
Subacute sclerosing panencephalitis
Van Bogaert disease
Van Bogaert encephalitis
A rare infectious disease characterized by slowly progressive brain disorder caused by a mutant measles virus, typically affecting children and young adults. The condition leads to cognitive decline, myoclonus, vision loss, and eventually a vegetative state.
India AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
Low oxygen affinity gamma chain hemoglobin disease
EPM6
GOSR2-related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
PME type 6
Progressive myoclonus epilepsy type 6
A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.
Bos1
GS27
FPHH
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
Familial progressive hyper- and hypopigmentation
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.
Multiple congenital anomalies-hypotonia-seizures syndrome
GPI ethanolamine phosphate transferase 1
MCD4
MDC4
PIG-N
phosphatidylinositol glycan anchor biosynthesis class N
Occipital MCD
Occipital malformations of cortical development
A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.
OBSOLETE: Acrodysostosis with multiple hormone resistance
A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.
Hfz6
HPS9
BLOC-1 subunit pallidin
biogenesis of lysosomal organelles complex 1 subunit 6
Congenital megaconial myopathy
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Congenital muscular dystrophy with mitochondrial structural abnormalities
A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.
Megaconial congenital muscular dystrophy
CHETK
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
CPP
Choroid plexus papilloma
A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.
Worldwide AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
AP-4 associated hereditary spastic paraplegia
AP4 deficiency syndrome
A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.
Severe intellectual disability and progressive spastic paraplegia
GET
A rare skin disease characterized by widespread cutaneous telangiectases usually ﬁrst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or conﬂuent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.
CCV
Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.
Bullous DCM
Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
Infiltrative small vesicular DCM
Infiltrative small vesicular diffuse cutaneous mastocytosis
Pseudoxanthomatous DCM
Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
Pseudoxanthomatous diffuse cutaneous mastocytosis
Familial vocal cord dysfunction
Gerhardt syndrome
Congenital intrapulmonary sequestration
Intralobar congenital bronchopulmonary sequestration
Intralobar congenital pulmonary sequestration
Congenital extrapulmonary sequestration
Extralobar congenital bronchopulmonary sequestration
Extralobar congenital pulmonary sequestration
Communicating congenital bronchopulmonary-foregut malformation
CPAM type 0
Congenital cystic adenomatoid malformation of the lung type 0
Congenital cystic adenomatous malformation of the lung type 0
A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.
Congenital pulmonary airway malformation type 0
CCAM type 1
CPAM type 1
Congenital cystic adenomatoid malformation of the lung type 1
Congenital cystic adenomatous malformation of the lung type 1
Congenital cystic disease of the lung type 1
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.
Congenital pulmonary airway malformation type 1
CCAM type 2
CPAM type 2
Congenital cystic adenomatoid malformation of the lung type 2
Congenital cystic adenomatous malformation of the lung type 2
Congenital cystic disease of the lung type 2
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities.
Congenital pulmonary airway malformation type 2
CCAM type 3
CPAM type 3
Congenital cystic adenomatoid malformation of the lung type 3
Congenital cystic adenomatous malformation of the lung type 3
Congenital cystic disease of the lung type 3
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period.
Congenital pulmonary airway malformation type 3
CPAM type 4
Congenital cystic adenomatoid malformation of the lung type 4
Congenital cystic adenomatous malformation of the lung type 4
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.
Congenital pulmonary airway malformation type 4
Iridocyclitis
Denmark AND has_point_prevalence_average_value : 185.0 AND has_point_prevalence_range : >1 / 1000
Choroiditis
Total uveitis
Familial recurrent Bell palsy
A rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.
Worldwide AND has_annual_incidence_average_value : 5.6 AND has_annual_incidence_range : 1-9 / 100 000
Familial recurrent peripheral facial palsy
Isolated IAU
Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.
Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.
Europe AND has_annual_incidence_average_value : 0.5051 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 2.0194 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 3.6 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000
Systemic diseases with posterior uveitis
Cri du chat syndrome
Deletion 5p
A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.
Denmark AND has_birth_prevalence_average_value : 2.22 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
NON RARE IN EUROPE: Bell palsy
NON RARE IN EUROPE: Idiopathic facial palsy
France AND has_point_prevalence_average_value : 0.19 AND has_point_prevalence_range : 1-9 / 1 000 000
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.
Europe AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000
ARCI
Norway AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000
Autosomal recessive congenital ichthyosis
KPI
A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a KRT1 mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. KRT2 mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.
France AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000
SHCB
SICI
Self-healing collodion baby
Self-improving congenital ichthyosis
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
Acral SHCB
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.
AEI
A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
CRIE
IWC
Ichthyosis variegata
Ichthyosis with confetti
Congenital reticular ichthyosiform erythroderma
Hard skin syndrome, Parana type
A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.
KLICK syndrome
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Autosomal ichthyosis syndrome with prominent hair abnormalities
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Trichothiodystrophy
OBSOLETE: Congenital ichthyosis with trichothiodystrophy
Autosomal ichthyosis syndrome with prominent neurologic signs
Autosomal ichthyosis syndrome with fatal disease course
Autosomal ichthyosis syndrome with other associated signs
CHAP1/DSK2
Chap1
Dsk2
LIC-2
N4BP4
NEDD4 binding protein 4
PLIC-2
PLIC2
RIHFB2157
HSPC014
UMP1
proteassemblin
FIL1
FIL1(DELTA)
FIL1D
IL-1 related protein 3
IL-1F5
IL1HY1
IL1L1
IL1RP3
IL36RA
family of interleukin 1-delta
interleukin-1 HY1
interleukin-1 receptor antagonist homolog 1
AKT
PKB
PRKBA
RAC
RAC-alpha
protein kinase B
KIAA0978
Spastic paraparesis-hearing loss syndrome
Wells-Jankovic syndrome
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.
SPEMR
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic glucose transporter type 1 deficiency syndrome
Spastic paraplegia-epilepsy-intellectual disability syndrome
NDE
NUDE
nudE
BVRA
BVRalpha
biliverdin reductase IXalpha
DXS707
TE2
arrest defective protein 1
N-alpha-acetyltransferase 10, NatA catalytic subunit
A rare autosomal recessive complex spastic paraplegia characterized by the triad of spastic paraplegia, severe intellectual disability and glaucoma. Some patients may exhibit a milder phenotype, presenting with slowly progressive spastic paresis and moderate intellectual disability. There have been no further descriptions in the literature since 1986.
Spastic paraplegia-glaucoma-intellectual disability syndrome
HBK
Bahemuka-Brown syndrome
A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
Spastic paraplegia-facial-cutaneous lesions syndrome
FTD
Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.
Italy AND has_annual_incidence_average_value : 3.05 AND has_annual_incidence_range : 1-9 / 100 000
Fitzsimmons-Walson-Mellor syndrome
Spastic paraplegia-nephritis-hearing loss syndrome
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.
Spastic paraplegia-nephritis-deafness syndrome
Antinolo-Nieto-Borrego syndrome
A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
Spastic paraplegia-neuropathy-poikiloderma syndrome
Partial monosomy of chromosome 12
Partial deletion of chromosome 12 syndrome
Inherited CJD
A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
APS
Autoimmune polyglandular syndrome
A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.
Portugal AND has_point_prevalence_average_value : 0.26 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal recessive spastic paraplegia type 11
OBSOLETE: Fitzsimmons-Guilbert syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal recessive spastic ataxia of Charlevoix-Saguenay
OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.
Paraplegia-intellectual disability-hyperkeratosis syndrome
Poikiloderma-alopecia-retrognathism-cleft palate syndrome
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
Spastic paraplegia-precocious puberty syndrome
GluN1
NR1
glutamate ionotropic receptor NMDA type subunit 1
Early-onset Parkinson disease
YOPD
A rare parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome
Demodicosis
Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.
Rhizomelic dysplasia, Patterson-Lowry type
Lopes-Gorlin syndrome
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
Short tarsus-absence of lower eyelashes syndrome
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
Worldwide AND has_cases/families_value : 54.0 (Case(s))
WSS
Wrinkled skin syndrome
Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).
Zori-Stalker-Williams syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum-Cockayne syndrome complex
Pellagra-like skin rash-neurological manifestations syndrome
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Renal caliceal diverticuli-hearing loss syndrome
A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.
Renal caliceal diverticuli-deafness syndrome
Kosenow syndrome
Scapuloiliac dysostosis
A rare dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Additional skeletal abnormalities may include hypoplasia of the clavicles, phalanges, ribs, femora and fibula, spina bifida, prominent lumbar lordosis, camptodactyly and clubbed feet. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Patients do not exhibit craniocervical abnormalities.
KIAA1215
LPP1
LTAP
STB1
STBM
STBM1
loop-tail-associated protein
strabismus
vang, van gogh-like 2
Echinococcus multilocularis infection
A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.
Austria AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000
Ray-Peterson-Scott syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Benign chronic familial pemphigus
A rare, genetic, chronic epidermal disorder characterized by diffuse bilateral (or, rarely, localized segmental) erythematous plaques with blistering, erosions, maceration, and frequent secondary infection involving the flexural areas.
HLC14-06-P
nucleoside-triphosphate diphosphatase
NON RARE IN EUROPE: Rheumatoid arthritis
Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
GlcAT-I
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
glucuronosyltransferase I
Kreiborg-Pakistani syndrome
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.
Deletion 8q21.11
Monosomy 8q21.11
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
10p12p11 microdeletion syndrome
Deletion 10p11.21p12.31
Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
Monosomy 10p11.21p12.31
A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Dup(X)(p22)
Duplication Xp22
A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.
A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.
CMT2O
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.
Autosomal dominant Charcot-Marie-Tooth disease type 2O
DHC1
Dnchc1
HL-3
p22
FRAM
Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.
FSTL2
IGFBP-7
MAC25
PSF
insulin like growth factor binding protein 7
IgG4-related sclerosing disease
Immunoglobulin G4-related sclerosing disease
Autosomal recessive spinocerebellar ataxia type 11
SCAR11
A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
sytXIV
Autosomal recessive spinocerebellar ataxia type 12
SCAR12
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.
Adult-onset autosomal recessive cerebellar ataxia
Essential pentosuria
Xylitol dehydrogenase deficiency
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
Autosomal recessive spinocerebellar ataxia type 7
SCAR7
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 6
SCAR6
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
PPB familial tumor and dysplasia syndrome
PPBFTDS
Pleuropulmonary blastoma familial tumor and dysplasia syndrome
FLIT
Immature interstitial mesenchymal tumor
RCVS
A rare cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischemic or hemorrhagic stroke.
Reversible cerebral vasoconstriction syndrome
WDFA
Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.
Well-differentiated fetal adenocarcinoma of the lung
Poorly differentiated neuroendocrine carcinoma of the bladder
SCCB
Small cell bladder cancer
Small cell bladder carcinoma
Small cell carcinoma of the urinary bladder
Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.
United States AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Xp21 deletion syndrome
OBSOLETE: Glycerol kinase deficiency, infantile form
Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.
Glycerol kinase deficiency, juvenile form
A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.
PSAT deficiency, infantile/juvenile form
A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Phosphoserine aminotransferase deficiency, infantile/juvenile form
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase H-subunit deficiency
Glycogenosis due to lactate dehydrogenase H-subunit deficiency
LDH-H subunit deficiency
Lactate dehydrogenase B deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.
AZOOR
A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.
AAOR
A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare genetic diabetes mellitus
OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus
Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
Qualitative or quantitative defects of troponin
Qualitative or quantitative defects of tropomyosin
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
A rare overgrowth syndrome characterized by polyhydramnios, pre- and postnatal macrosomia, muscular hypotonia, renal anomalies, organomegaly, abdominal distension, cryptorchidism, typical facial dysmorphism, neurodevelopmental delay and high neonatal mortality. Individuals surviving infancy show a high risk of developing Wilms tumor.
MFS1
MFS2
Neonatal MFS
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.
Marfan syndrome and Marfan-related disorders
EDS III
EDS-HT
Ehlers-Danlos syndrome hypermobility type
Ehlers-Danlos syndrome type 3
Hypermobile EDS
hEDS
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
Perniola-Krajewska-Carnevale syndrome
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Worldwide AND has_cases/families_value : 15.0 (Family(ies))
Alopecia-intellectual disability syndrome
Rare disease with thoracic aortic aneurysm and aortic dissection
PARK18
eukaryotic translation initiation factor 4 gamma 1
MEM3
PARK17
D2S448
D2S448E
KIAA0230
MG50
PRG2
PXN
RPC1
RPC155
hRPC155
RPC2
BTN6
BTNL11
MOZ-related factor
MOZ2
Morf
qkf
querkopf
N-acetyllactosaminide alpha-2,3-sialyltransferase
ST3Gal III
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Exner syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hajdu-Cheney syndrome
Serpentine fibula-polycystic kidneys syndrome
GT198
HUMGT198A
Hop2
TBP-1 interacting protein
TBPIP
homologous-pairing protein 2 homolog
MIHG1
MIRH1
long intergenic non-protein coding RNA 48
miR-17-92
non-protein coding RNA 48
FilGAP
CPLANE3
ciliogenesis and planar polarity effector complex subunit 3
Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
Fuhrmann-Rieger-de Sousa syndrome
A rare syndrome with limb reduction defects characterized by severe femoral bowing, aplasia/hypoplasia of the fibula and ulna. Patients may present with poly-, oligo-, clino- and syndactyly. Absence/coalescence of tarsal bones, absence of metatarsals, hypoplasia/aplasia of toes, fingers and fingernails, hypoplasia of pelvis, congenital hip dislocation, short stature and amenorrhea have also been reported.
NY-REN-37
UKp68
CFAP66
DYF-2
FAP66
IFT144
KIAA1638
NPHP13
ORF26
Oseg6
Pwdmp
intraflagellar transport 144 homolog (Chlamydomonas)
60S ribosomal protein L21
L21
eL21
XX gonadal dysgenesis-deafness syndrome
XX gonadal dysgenesis-hearing loss syndrome
A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes progressive neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males.
Worldwide AND has_cases/families_value : 124.0 (Case(s))
PMDS
Persistent Müllerian derivatives
A rare disorder/difference of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
Disorder of folate metabolism and transport
CT78
cancer/testis antigen 78
Growth arrest-specific gene-1
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare inborn errors of metabolism
OBSOLETE: Preeyasombat-Varavithya syndrome
OBSOLETE: D'Ercole syndrome
OBSOLETE: Short stature-microcephaly-heart defect syndrome
CD240D
DIIIc
Rh30a
Rh4
RhII
RhPI
SLC42A5
Stratton-Parker syndrome
A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).
Short stature-wormian bones-dextrocardia syndrome
OBSOLETE: Short stature-prognathism-short femoral necks syndrome
Al Gazali-Aziz-Salem syndrome
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
Short stature-webbed neck-heart disease syndrome
DENND9
DENNL72
Cav3.2
calcium voltage-gated channel subunit alpha1 H
DGCR1
DiGeorge critical region gene 1
TUP1
histone regulator A
CFHL
FHR1
DOWN16
FHR-3
FHR3
HLF4
Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
Thong-Douglas-Ferrante syndrome
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
FHR-5
FHR5
Factor H related protein 5
factor H related protein 5
SELZ
Selenoprotein Z
TR3
TRXR2
TXNR2
Thioredoxin reductase beta
selenoprotein Z
thioredoxin reductase beta
JBTS14
Kid
OBP-1
OBP-2
Mievis-Verellen-Dumoulin syndrome
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.
Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Short stature-valvular heart disease-characteristic facies syndrome
Hamartomatous intestinal polyposis
A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.
Uruguay AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000
Classical EDS
cEDS
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.
NON RARE IN EUROPE: Induratio penis plastica
NON RARE IN EUROPE: Plastic induration of penis
BMP-1
tolloid-like
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature, small hands and feet, stiff gait, slow movements, high-pitched voice and progressive joint stiffness, particularly in the shoulders, elbows, fingers and hands. Patients typically present with amimic facies with narrow palpebral fissures with epicanthal folds, cup-shaped ears, high-arched palate and enamel hypoplasia. Recurrent bronchitis is frequently observed. Inguinal hernia, clinodactyly and congenital aortic stenosis may also be present. There have been no further descriptions in the literature since 1977.
Craniosynostosis-congenital heart disease-intellectual disability syndrome
Pfeiffer-Singer-Zschiesche syndrome
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.
A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.
Worldwide AND has_cases/families_value : 248.0 (Case(s))
ECAT1
ES cell associated transcript 1
KH domain containing 3 like, subcortical maternal complex member
Powell-Chandra-Saal syndrome
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome
OBSOLETE: Stoll-Lévy-Francfort syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndrome with limb reduction defects
OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
PEPCK deficiency
A rare gluconeogenesis disorder characterized by recurrent hypoglycemia mostly associated with acute episodes of severe lactic acidosis and hepatic dysfunction including liver failure due to phosphoenolpyruvate carboxykinase enzyme deficiency. Hypoglycemic seizures occur predominantly at the age of 1-2 years and mostly in the mornings. However they can also present neonatally or at a later age, and could re-occur during school age or adulthood. Patients have recognizable pattern of abnormal urine organicacids (including increased tricarboxylic acid cycle metabolites) and inadequate ketone body production during hypoglycemia. Some patients may also have encephalopathy, cerebral edema and seizures thay may result in neuroregression and/or global developmental delay associated to failure to manage hypoglycemia. Some patients may also be asymptomatic.
Phosphoenolpyruvate carboxykinase deficiency
A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.
Cutaneous photosensitivity-lethal colitis syndrome
Phytosterolemia
Sisterolemia
Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Telfer-Sugar-Jaeger syndrome
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Piebald trait-neurologic defects syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
Chitayat-Meunier-Hodgkinson syndrome
Pierre Robin sequence-faciodigital anomaly syndrome
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.
Pierre Robin syndrome-faciodigital anomaly syndrome
Twisted hair
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.
D10S64
D10S65
D10S66
IRBP
RP66
interphotoreceptor retinoid-binding protein
interstitial retinol-binding protein 3
BBS21
Bardet-Biedl syndrome 21
CORD16
FAP418
MOT25
MOT25.
RP64
SMALLTALK
cone-rod dystrophy 16
cilia and flagella associated protein 418
Chondroectodermal dysplasia
Mesodermic dysplasia
A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.
Specific population AND has_birth_prevalence_average_value : 500.0 AND has_birth_prevalence_range : >1 / 1000
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
Pili torti-developmental delay-neurological abnormalities syndrome
A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
Hypocalcemic vitamin D-dependent rickets
ARHR
A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.
Autosomal recessive hypophosphatemic rickets
Euhidrotic ectodermal dysplasia
Kopysc-Barczyk-Krol syndrome
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Pilodental dysplasia-refractive errors syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
GluN2A
NR2A
glutamate ionotropic receptor NMDA type subunit 2A
ADK hypermethioninemia
Hypermethioninemia encephalopathy due to ADK deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Adenosine 5'-phosphotransferase
adenosine 5'-phosphotransferase
Developmental delay due to ALDH6A1 deficiency
Developmental delay due to MMSDH deficiency
A rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
malonate-semialdehyde dehydrogenase (acetylating)
aldehyde dehydrogenase 6 family member A1
HAM/TSP
HTLV-1-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis
TSP
Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.
IDH
Infective dermatitis associated with human T-lymphotropic virus type 1
Infective dermatitis associated with human T-lymphotropic virus type I
Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.
Infective dermatitis associated with HTLV-1
NGCO
Primary non-gestational ovarian choriocarcinoma
Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.
Primary non-gestational choriocarcinoma of ovary
Non-CNS-localized embryonal carcinoma
Non-central nervous system-localized embryonal carcinoma
Familial VUR
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.
KIAA1568
EOMFC
Salih myopathy
A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.
Early-onset myopathy with fatal cardiomyopathy
Congenital myosclerosis, Löwenthal type
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
Cancer diagnosed during pregnancy
A rare condition characterized by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynecologic tumors, especially cervical cancer, followed by hematologic malignancies. Patient management should be carried out by a multidisciplinary team of specialists.
Primary SjD
Primary Sjögren syndrome
A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.
Brazil AND has_point_prevalence_average_value : 165.98 AND has_point_prevalence_range : >1 / 1000
Denmark AND has_point_prevalence_average_value : 45.47 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 48.99 AND has_point_prevalence_range : 1-5 / 10 000
France AND has_point_prevalence_average_value : 11.343 AND has_point_prevalence_range : 1-5 / 10 000
Greece AND has_annual_incidence_average_value : 5.3 AND has_annual_incidence_range : 1-9 / 100 000
Greece AND has_point_prevalence_average_value : 86.398 AND has_point_prevalence_range : 6-9 / 10 000
Italy AND has_point_prevalence_average_value : 30.91 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_point_prevalence_average_value : 49.745 AND has_point_prevalence_range : 1-5 / 10 000
Slovenia AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000
Taiwan, Province of China AND has_annual_incidence_average_value : 9.5 AND has_annual_incidence_range : 1-9 / 100 000
Taiwan, Province of China AND has_point_prevalence_average_value : 37.15 AND has_point_prevalence_range : 1-5 / 10 000
Turkey AND has_point_prevalence_average_value : 207.83 AND has_point_prevalence_range : >1 / 1000
United States AND has_annual_incidence_average_value : 3.95 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 6.92 AND has_annual_incidence_range : 1-9 / 100 000
NON RARE IN EUROPE: Secondary Sjögren-Gougerot syndrome
NON RARE IN EUROPE: Secondary Sjögren syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Orofacial clefting syndrome
Congenital absence of fingerprints
Immigration delay disease
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
KIAA1122
SNF2 related chromatin remodeling ATPase with DExD box 1
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
Intellectual disability-alacrima-achalasia syndrome
MLAT4
procollagen-proline 3-dioxygenase 2
POLR-related leukodystrophy
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
CCMCO
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.
Congenital cataract microcornea with corneal opacity
Microphthalmia-intellectual disability syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Micro syndrome
CMAMMA
Combined malonic and methylmalonic aciduria
A rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Combined malonic and methylmalonic acidemia
malonyl-CoA synthetase
Deletion 12q15q21
Monosomy 12q15q21
Tetrasomy 11q24.1
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency
OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency
OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated complex I deficiency
OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
CGI-65
CIA30
NADH:ubiquinone oxidoreductase complex assembly factor 1
Tumor susceptibility linked to germline BAP1 mutations
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
BAP1-related tumor predisposition syndrome
KIAA0272
UCHL2
hucep-6
ubiquitin carboxy-terminal hydrolase L2
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, ﬂat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.
Dysmorphism-conductive hearing loss-heart defect syndrome
MPAN
NBIA due to C19orf12 mutation
NBIA4
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 4
A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.
Mitochondrial membrane protein-associated neurodegeneration
membrane protein-associated neurodegeneration
neurodegeneration with brain iron accumulation 4
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
Multiple mitochondrial dysfunctions syndrome
CGI-33
NIFUC
NifU
Autosomal recessive exfoliative ichthyosis
Ichthyosis exfoliativa
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.
stefin A
JNA
Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.
Worldwide AND has_annual_incidence_average_value : 0.6666 AND has_annual_incidence_range : 1-9 / 1 000 000
A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.
CALJA
Calcification of joints and arteries
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.
Hereditary arterial and articular multiple calcification syndrome
CD73
eNT
EBV-related tumor
EBV-associated lymphoproliferative disorder
Epstein-Barr virus-associated malignant lymphoproliferative disorder
EBV-associated carcinoma
EBV-associated mesenchymal tumor
Epstein-Barr Virus-associated mesenchymal tumor
EBV-positive DLBCL
Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified
Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.
Epstein-Barr virus-positive diffuse large B-cell lymphoma
PBL
A rare aggressive B-cell non-Hodgkin lymphoma characterized by neoplastic cells resembling B immunoblasts or plasmablasts with a CD20-negative plasmacytic phenotype. The tumor may occur in the oral cavity, the gastrointestinal tract, or other, predominantly extranodal, sites and is typically associated with immunodeficiency or -suppression. The tumor cells are EBV-positive in most cases. Patients often present with disseminated bone involvement. Paraproteinemia may also be detected. Prognosis is generally poor.
Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.
A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.
Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
Worldwide AND has_cases/families_value : 48.0 (Case(s))
Hyde Forster-McCarthy-Berry syndrome
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.
X-linked intellectual disability-plagiocephaly syndrome
Late-onset primary lymphedema without systemic or visceral involvement
Disorder of lysine and hydroxylysine metabolism
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Classic glycine encephalopathy
Neonatal NKH
Neonatal non-ketotic hyperglycinemia
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Infantile NKH
Infantile non-ketotic hyperglycinemia
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.
Atypical NKA
Atypical non-ketotic hyperglycinemia
A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.
Glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.
Hypermethioninemia due to glycine N-methyltransferase deficiency
Platyspondyly-amelogenesis imperfecta syndrome
Verloes-Bourguignon syndrome
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
Brachyolmia-amelogenesis imperfecta syndrome
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut0
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Complete mevalonate kinase deficiency
MVA
A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
CRS
Fetal rubella syndrome
Mother-to-child transmission of rubella syndrome
An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.
Austria AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000
Romania AND has_birth_prevalence_average_value : 2.18 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000
Turkey AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
Acute brachial plexus neuritis
Brachial plexus neuritis
Immune brachial plexus neuropathy
Mononeuritis multiplex with brachial predilection
Neuralgic shoulder amyotrophy
A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.
United Kingdom AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_lifetime_prevalence_average_value : 30.0 AND has_lifetime_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 1.64 AND has_annual_incidence_range : 1-9 / 100 000
CMPX1
MRX97
ZNF4
ZNF5
Zfp711
Chronic eosinophilic pneumonia
A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.
Iceland AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000
Idiopathic chronic eosinophilic pneumonia
KDAC8
RPD3
Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.
Finland AND has_point_prevalence_average_value : 54.64 AND has_point_prevalence_range : 1-5 / 10 000
bHLHd4
bHLHd5
bHLHd6
bHLHd7
bHLHd8
MYC associated transcriptional regulator X
Crow-Fukase syndrome
Osteosclerotic myeloma
PEP syndrome
Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
Takatsuki syndrome
POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.
Japan AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000
Weary syndrome
A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.
Familial pheochromocytoma-paraganglioma
A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.
Hereditary pheochromocytoma-paraganglioma
Kahler disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
Australia AND has_annual_incidence_average_value : 5.1 AND has_annual_incidence_range : 1-9 / 100 000
Denmark AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 11.9 AND has_point_prevalence_range : 1-5 / 10 000
France AND has_annual_incidence_average_value : 7.7 AND has_annual_incidence_range : 1-9 / 100 000
Iran, Islamic Republic of AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 5.6 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler
A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Autoinflammatory syndrome with immune deficiency
Autoinflammatory syndrome with skin involvement
Poikiloderma of Rothmund-Thomson
A rare syndrome characterized by facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and cancer susceptibility.
Antenatal varicella virus infection
Mother-to-child transmission of varicella syndrome
A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.
Poland anomaly
Poland sequence
A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.
Canada AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000
Canada AND has_point_prevalence_range : 1-9 / 100 000
A rare viral infection caused by any of three serotypes of wild human poliovirus (types 1, 2 and 3), which are part of the family of enteroviruses; and three serotypes of Sabin vaccine-derived polioviruses (types 1, 2 and 3) that have accumulated genetic changes and regained the ability to cause polio paralysis. wild type 2 and type 3 polioviruses have been certified eradicated, wild type 1 poliovirus continues to circulate in Pakistan and Afghanistan, and vaccine-derived polio viruses mainly circulate in sub-Saharan Africa.
SR-BP1
sigma non-opioid intracellular receptor 1
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
Postaxial polydactyly-dental and vertebral anomalies syndrome
Czeizel-Brooser syndrome
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.
DSPB3
EKD1
Episodic kinesigenic dyskinesia 1
FICCA
IFITMD1
Interferon induced transmembrane protein domain containing 1
PKC
Paroxysmal kinesigenic dyskinesia
dispanin subfamily B member 3
ATP-binding cassette half-transporter
MTABC3
umat
ATP binding cassette subfamily B member 6 (LAN blood group)
ANKK2
DIK
PKC-delta-interacting protein kinase
PKK
RIP4
protein kinase C-associated kinase
receptor interacting serine/threonine kinase 4
Canstatin
Collagen type IV alpha 2
canstatin
ENX-1
EZH1
KMT6
KMT6A
enhancer of zeste 2 polycomb repressive complex 2 subunit
OATP2A1
PGT
prostaglandin transporter
solute carrier organic anion transporter family member 2A1
cytochrome c oxidase assembly factor COX14
DNAS1L3
DNase gamma
DNaseY
LS-DNase
LSD
OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly of hands and feet and median cleft of the upper lip. Oral manifestations may be present and can include bifid uvula, duplicated frenulum, enamel hypoplasia and tooth number abnormalities. Some cases might present with intellectual disability.
BTL-II
BTN7
HSBLMHC1
Antenatal enterovirus infection
Mother-to-child transmission of enterovirus infection
An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.
Postaxial polydactyly-intellectual disability syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability and postaxial polydactyly of the hands, and sometimes of the feet. Seizures are also common and usually manifest in the first months of life or in early childhood. Other clinical signs may include cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes. There have been no further descriptions in the literature since 1983.
B22
Complex I B22 subunit
LYRM3
UQOR22
complex I B22 subunit
NADH:ubiquinone oxidoreductase subunit B9
BHLHF42
Fingerin
bHLHa9
Fiessinger-Leroy disease
A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection.
NY-CO-33
TSH1
KIAA1780
SR-F3
Pfeiffer-Mayer syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.
Preaxial polydactyly-colobomata-intellectual disability syndrome
AR7
ERBA
NR1A1
THRA3
THRalpha
THRalpha1
THRalpha2
TRalpha
TRalpha1
TRalpha2
c-ERBA-1
c-erbA
c-erbA protooncogene
nuclear receptor subfamily 1 group A member 1
BABP
DD2
HAKRD
MCDR2
dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III
3-alpha hydroxysteroid dehydrogenase, type I
3-alpha-HSD
C11
DD4
HAKRA
chlordecone reductase
chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
dihydrodiol dehydrogenase 4
BRM
SNF2LA
Sth1p
brahma homolog
hBRM
hSNF2a
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
DOMO1
Domino homolog 1 (Drosophila)
EAF1
KIAA0309
SWR1
Swi2/Snf2-related ATPase homolog (S. cerevisiae)
domino homolog 1 (Drosophila)
B12
Complex I B12 subunit
complex I B12 subunit
NADH:ubiquinone oxidoreductase subunit B3
CHL
NRLN1
CSNB1E
RHBDL5
TOCG
iRhom2
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
Eg5
HKSP
TRIP5
116 kDa U5 small nuclear ribonucleoprotein component
SNRNP116
Snrp116
Snu114
U5 snRNP specific protein, 116 kD
U5-116KD
elongation factor Tu GTP binding domain containing 2
PRVTIRB
TICAM-1
TIR domain-containing adapter molecule 1
TIR domain-containing adaptor-inducing interferon-beta
TIR domain-containing adaptor-inducing interferon-ß
TRIF
proline-rich, vinculin and TIR domain-containing protein B
TIR domain containing adaptor molecule 1
CAP-1
CD40bp
CRAF1
LAP1
RNF118
OATP1B3
OATP8
solute carrier organic anion transporter family member 1B3
WIP
WAS/WASL interacting protein family member 1
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Polymicrogyria
OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome
Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
Hamanishi-Ueba-Tsuji syndrome
Polyneuropathy-hand defect syndrome
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
Digital extensor muscle aplasia-polyneuropathy
kisspeptin
prepro-kisspeptin
COM1
CTBP-interacting protein
CtIP
Lundberg syndrome
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
JIP
JPS
Juvenile gastrointestinal polyposis
Juvenile intestinal polyposis
A rare inherited cancer-predisposing syndrome characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
Europe AND has_annual_incidence_average_value : 3.85 AND has_annual_incidence_range : 1-9 / 100 000
HSPC196
JBTS16
JBTS15
Antenatal herpes simplex virus infection
Mother-to-child transmission of herpes simplex virus infection
Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.
Sweden AND has_annual_incidence_average_value : 6.6 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000
Congenital herpes simplex virus infection
Gastrointestinal polyposis-ectodermal changes syndrome
Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
DIS3-like exonuclease 2
Glvr-2
PIT2
PiT-2
Ram-1
Sodium-dependent phosphate transporter 2
gibbon ape leukemia virus receptor 2
ACAM
ASAM
Adipocyte adhesion molecule
Adipocyte-specific adhesion molecule
CAR-like membrane protein
Coxsackie- and adenovirus receptor-like membrane protein
adipocyte adhesion molecule
adipocyte-specific adhesion molecule
BP240
BPA
CATX-15
KIAA0728
MACF2
Stargazin
stargazin
calcium voltage-gated channel auxiliary subunit gamma 2
KIAA0338
erythrocyte membrane protein band 4.1 like 1
BAF250b
DAN15
ELD/OSA1
KIAA1235
SMARCF2
p250R
BAF250
BAF250a
C10rf4
Hereditary clubfoot due to 5q31 microdeletion
Familial clubfoot due to 5q31 microdeletion
Hereditary clubfoot due to PITX1 point mutation
Familial clubfoot due to PITX1 point mutation
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
IAHSP
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
Worldwide AND has_cases/families_value : 17.0 (Family(ies))
Infantile-onset ascending hereditary spastic paralysis
AGEP
Pustular drug eruption
Toxic pustuloderma
A rare hypersensitivity reaction characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Fever, peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Onset usually occurs 1-12 days after administration of the causal medication and is most frequently associated with beta‐lactam antibiotics, macrolides (including pristinamycin and clindamycin), diltiazem, terbinafine, (hydroxy‐)chloroquine but many other medications have also been implicated. Histology reveals spongiform, subcorneal and/or intraepidermal, pustules but this pattern is not specific (same in pustular psoriasis).
Israel AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000
Acute generalized exanthematous pustulosis
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.
United Kingdom AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000
Epilepsy of infancy with migrating focal seizures
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Undifferentiated pleomorphic sarcoma
OBSOLETE: Pleomorphic undifferentiated sarcoma
A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.
CIDP
Chronic inflammatory demyelinating polyradiculoneuropathy
A rare chronic monophasic progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes, electrodiagnostic features suggestive of demyelination and occasional elevated cerebrospinal fluid (CSF) protein level.
Australia AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
Australia AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 3.86 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 1.61 AND has_point_prevalence_range : 1-9 / 100 000
Norway AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000
Chronic inflammatory demyelinating polyneuropathy
A rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.
Dunbar syndrome
MALS
Median arcuate ligament syndrome
A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.
BH4-responsive PKU
BH4-responsive phenylketonuria
Tetrahydrobiopterin-responsive PKU
A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.
Tetrahydrobiopterin-responsive phenylketonuria
INK4B
MTS2
P15
TP15
p15INK4b
SH2-B homolog
SH2B
Mdm38
Mdm38 homolog (yeast)
SLC55A1
leucine zipper and EF-hand containing transmembrane protein 1
Methylmalonic aciduria without homocystinuria
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.
China AND has_point_prevalence_average_value : 0.0555 AND has_point_prevalence_range : <1 / 1 000 000
Methylmalonic acidemia without homocystinuria
GWCD
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Worldwide AND has_cases/families_value : 186.0 (Case(s))
Bonneau syndrome
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.
Polysyndactyly-cardiac malformation syndrome
PDCD
Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.
Autosomal recessive CHED
Autosomal recessive congenital hereditary endothelial dystrophy
CHED2
CHEDII
Congenital hereditary endothelial dystrophy type 2
Infantile hereditary endothelial dystrophy
Maumenee corneal dystrophy
Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
Congenital hereditary endothelial dystrophy type II
XECD
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
PYCR1 deficiency
Pyrroline-5-carboxylate reductase 1 deficiency
A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.
Worldwide AND has_cases/families_value : 58.0 (Case(s))
Blepharophimosis-intellectual disability syndrome
BMRS, MKB type
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
X-linked Ohdo syndrome
A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.
Blepharophimosis-intellectual disability syndrome, MKB type
BMRS type V
BMRS, Verloes type
Blepharophimosis-intellectual disability syndrome type V
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
Blepharophimosis-intellectual disability syndrome, Verloes type
Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.
A rare hypersensitivity reaction characterized by the appearance of erythematous or violaceous, round, sometimes painful, plaques that may or may not result in long-lasting pigmentation and which recur (usually at the same site) upon re-exposure to the causative medication. The severe form of the disease, generalized bullous fixed drug eruption, occurs typically in the elderly and may be life-threatening. Onset usually occurs 30 minutes to several hours after administration of the causal medication. Many medications, including paracetamol, have been implicated. The disease may rarely be induced by food. Histology is characterized by interface dermatitis or epidermal necrolysis in bullous forms.
MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
MITF-related melanoma and renal cell carcinoma predisposition syndrome
CDA type 4a
CDA type IVa
Congenital dyserythropoietic anemia type 4a
Congenital dyserythropoietic anemia type IVa
A form of congenital dyserythropoietic anemia (CDA) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth, requiring repeated transfusions. The majority of affected individuals experience severe hemolytic anemia, often accompanied by a normal or slightly elevated reticulocyte count, hepatosplenomegaly, hyperbilirubinemia, and persistence of fetal hemoglobin. Hypertrophic cardiomyopathy and occasional dysmorphic features, including large anterior fontanel, hypertelorism, micropenis, and hypospadias, have also been reported. All documented cases to date share the same dominant-negative missense variant, E325K, in the KLF1 gene (19p13.2).
Autosomal dominant KLF1-related dyserythropoietic anemia
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ataxia-telangiectasia variant
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
RTLA
rvFTD
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frontotemporal dementia
Frontotemporal dementia, right temporal atrophy variant
A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
ALVC
Arrhythmogenic cardiomyopathy dominant-left variant
Arrhythmogenic cardiomyopathy with left ventricular involvement
Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Arrhythmogenic cardiomyopathy dominant-right variant
Arrhythmogenic cardiomyopathy with right ventricular involvement
Familial isolated arrhytmogenic ventricular dysplasia, right dominant form
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.
Lethal occipital encephalocele-skeletal dysplasia syndrome
CIAT
CerIII
NaCh6
Nav1.6
PN4
sodium voltage-gated channel alpha subunit 8
Autosomal dominant keratoconus with early-onset anterior polar cataracts
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
Familial keratoconus with cataract
KTCNCT
A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.
Distal dup(X)q(28)
Distal trisomy Xq28
Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Monosomy 1p21.3
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
DAVID syndrome
A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
ROHHAD
ROHHADNET
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.
Worldwide AND has_cases/families_value : 96.0 (Case(s))
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Antenatal CMV infection
Antenatal cytomegalovirus infection
Mother-to-child transmission of cytomegalovirus syndrome
A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.
A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.
Japan AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000
MIC-CAP syndrome
MIC-CM syndrome
Microcephaly-cutaneous capillary malformation syndrome
Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
Microcephaly-capillary malformation syndrome
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
Syndactyly-nystagmus syndrome due to dup(2)(q31.1)
Syndactyly-nystagmus syndrome due to trisomy 2q31.1
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.
Bonnemann-Meinecke syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Postpolio syndrome
Postpoliomyelitic syndrome
Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.
Ivemark II syndrome
Renohepaticopancreatic dysplasia
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.
CIF
Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversible) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).
Italy AND has_birth_prevalence_average_value : 86.0 AND has_birth_prevalence_range : 6-9 / 10 000
Italy AND has_point_prevalence_average_value : 42.4691 AND has_point_prevalence_range : 1-5 / 10 000
VRL3
transient receptor potential cation channel subfamily V member 3
Brachydactyly, long thumb type
A rare heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.
CDC54
DNA replication licensing factor MCM4
P1-Cdc21
hCdc21
minichromosome maintenance complex component 4
Coll-1
Hsema-I
SEMA1
SemD
Sema III
coll-1
sema III
Carnevale-Hernández-del Castillo-Torres syndrome
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.
Triphalangeal thumbs-brachyectrodactyly syndrome
Non-syndromic intercalary meromelia
OBSOLETE: Terminal meromelia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-syndromic limb reduction defect
OBSOLETE: Fingers absent
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Isolated split hand-split foot malformation
OBSOLETE: Split hand or/and split foot malformation
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations
OBSOLETE: Preaxial polydactyly of hand
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-syndromic preaxial polydactyly
OBSOLETE: Preaxial polydactyly of fingers
OBSOLETE: Postaxial polydactyly of hand
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-syndromic postaxial polydactyly
OBSOLETE: Postaxial polydactyly of fingers
Dysostosis with combined reduction defects of upper and lower limbs
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Syndrome with synostosis or other joint formation defect
OBSOLETE: Syndromes with synostoses of limbs
LCCS
A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.
Isolated congenital absence of upper limb
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.
Isolated congenital absence of lower limb
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.
Isolated total amelia
A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.
Isolated congenital absence of humerus
Isolated congenital humeral deficiency
Isolated congenital hypoplasia of humerus
Isolated humeral intercalary meromelia
Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.
Isolated congenital humero-radio-ulnar intercalary transverse meromelia
A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.
Worldwide AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000
Isolated absence of upper arm and forearm with hand present
Isolated congenital femoro-tibio-fibular intercalary transverse meromelia
Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.
Isolated absence of thigh and lower leg with foot present
Isolated congenital radio-ulnar terminal transverse meromelia
Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.
Isolated absence of both forearm and hand
Isolated congenital tibiofibular terminal transverse meromelia
Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.
Isolated absence of both lower leg and foot
Isolated congenital absence of hand
A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.
Isolated congenital absence of foot
A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.
Isolated congenital absence/hypoplasia of thumb
Isolated congenital thumb hypodactyly
Isolated congenital thumb oligodactyly
A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
OBSOLETE: Digits 2-5 hypodactyly
OBSOLETE: Digits 2-5 oligodactyly
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic terminal transverse limb defect
OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb
OBSOLETE: Ectrodactyly of hand
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated split hand-split foot malformation
OBSOLETE: Short fingers
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations
OBSOLETE: Short toes
Mother-to-child transmission of parvovirus syndrome
Parvovirus antenatal infection
Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.
TPT-PS syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Triphalangeal thumb-polysyndactyly syndrome
ABS
Amniotic band sequence
Congenital constriction ring syndrome
Congenital ring constrictions
Constriction band syndrome
Streeter dysplasia
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Europe AND has_birth_prevalence_average_value : 5.3 AND has_birth_prevalence_range : 1-9 / 100 000
Isolated congenital supernumerary phalanges
Supernumerary phalanx
Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.
Mesoaxial polydactyly
A rare congenital limb malformation characterized by complete or partial duplication of one of the three middle digits in a hand or foot. It most commonly affects the fourth digit. The malformation may be unilateral or bilateral and can occur as an isolated defect or in association with other anomalies.
OBSOLETE: Bifid great toes
OBSOLETE: Bifid halluces
OBSOLETE: Bifid hallux
OBSOLETE: Preaxial polydactyly of foot
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic preaxial polydactyly
OBSOLETE: Postaxial polydactyly of foot
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic postaxial polydactyly
OBSOLETE: Central polydactyly of foot
OBSOLETE: Mesoaxial polydactyly of toes
OBSOLETE: Mirror foot
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Central polydactyly
Mitten hand
Syndactyly, mitten type
Unilateral syndactyly of digits 2-5
A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.
Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.
Familial isolated clinodactyly of fingers
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.
Congenital pseudarthrosis of the tibia
A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.
Congenital pseudarthrosis of the femur
A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.
Congenital pseudarthrosis of the fibula
A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.
Congenital pseudoarthrosis of the fibula
Congenital pseudarthrosis of the radius
A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.
Congenital pseudoarthrosis of the radius
Congenital pseudarthrosis of the ulna
A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.
Isolated congenital tibiofibular fusion
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.
A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.
Isolated congenital elbow dislocation
A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.
Isolated congenital radial head dislocation
A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).
A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Patella aplasia/hypoplasia
OBSOLETE: Patella aplasia/hypoplasia, unilateral
OBSOLETE: Patella aplasia/hypoplasia, bilateral
Macrodactyly of hand
A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.
Macrodactyly of foot
A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.
Worldwide AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000
A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Amelia of upper limb
OBSOLETE: Amelia of upper limb, unilateral
OBSOLETE: Amelia of upper limb, bilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Amelia of lower limb
OBSOLETE: Amelia of lower limb, unilateral
OBSOLETE: Amelia of lower limb, bilateral
OBSOLETE: Humeral intercalary meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated humeral agenesis/hypoplasia
OBSOLETE: Humeral agenesis/hypoplasia, unilateral
OBSOLETE: Humeral intercalary meromelia, bilateral
OBSOLETE: Humeral agenesis/hypoplasia, bilateral
OBSOLETE: Femoral intercalary meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated femoral agenesis/hypoplasia
OBSOLETE: Femoral agenesis/hypoplasia, unilateral
OBSOLETE: Femoral intercalary meromelia, bilateral
OBSOLETE: Femoral agenesis/hypoplasia, bilateral
OBSOLETE: Radial longitidinal meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated radial hemimelia
OBSOLETE: Radial longitidinal meromelia, bilateral
OBSOLETE: Ulnar longitudinal meromelia, bilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated ulnar hemimelia
OBSOLETE: Ulnar longitudinal meromelia, unilateral
OBSOLETE: Tibial longitudinal meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated tibial hemimelia
OBSOLETE: Tibial longitudinal meromelia, bilateral
OBSOLETE: Fibular longitudinal meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated fibular hemimelia
OBSOLETE: Fibular longitudinal meromelia, bilateral
OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated absence of upper arm and forearm with hand present
OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral
OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral
OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral
OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated absence of thigh and lower leg with foot present
OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral
OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral
OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral
OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated absence of both forearm and hand
OBSOLETE: Congenital absence of both forearm and hand, unilateral
OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral
OBSOLETE: Congenital absence of both forearm and hand, bilateral
OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated absence of both lower leg and foot
OBSOLETE: Congenital absence of both lower leg and foot, unilateral
OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral
OBSOLETE: Congenital absence of both lower leg and foot, bilateral
A rare syndrome with combined immunodeficiency characterized by thumb aplasia, short stature with skeletal abnormalities including unfused olecranon, and combined immunodeficiency manifested with severe chickenpox and chronic candidiasis. Additional clinical features may include flat facies, anosmia, congenital septal defects and delayed puberty. There have been no further descriptions in the literature since 1978.
Absent thumb-short stature-immunodeficiency syndrome
OBSOLETE: Congenital absence of hand, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated acheiria
OBSOLETE: Congenital absence of hand, bilateral
OBSOLETE: Congenital absence of foot, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated apodia
OBSOLETE: Congenital absence of foot, bilateral
OBSOLETE: Thumb hypodactyly, unilateral
OBSOLETE: Thumb oligodactyly, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated hypoplasia of thumb
OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral
OBSOLETE: Thumb hypodactyly, bilateral
OBSOLETE: Thumb oligodactyly, bilateral
OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral
OBSOLETE: Adactyly of hand, bilateral
OBSOLETE: Digits 2-5 hypodactyly, bilateral
OBSOLETE: Digits 2-5 oligodactyly, bilateral
OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral
OBSOLETE: Congenital absence of toes, unilateral
OBSOLETE: Congenital absence of toes, bilateral
OBSOLETE: Ectrodactyly of hand, unilateral
OBSOLETE: Ectrodactyly of hand, bilateral
OBSOLETE: Short fingers, unilateral
OBSOLETE: Brachydactyly of fingers, unilateral
OBSOLETE: Short fingers, bilateral
OBSOLETE: Brachydactyly of fingers, bilateral
OBSOLETE: Short toes, unilateral
OBSOLETE: Brachydactyly of toes, unilateral
OBSOLETE: Short toes, bilateral
OBSOLETE: Brachydactyly of toes, bilateral
OBSOLETE: Symbrachydactyly of hand and foot, unilateral
OBSOLETE: Symbrachydactyly of hand and foot, bilateral
OBSOLETE: Hyperphalangy in digits 2-5
OBSOLETE: Supernumerary phalanges, unilateral
OBSOLETE: Supernumerary phalanx, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated hyperphalangy
OBSOLETE: Supernumerary phalanges, bilateral
OBSOLETE: Supernumerary phalanx, bilateral
OBSOLETE: Preaxial polydactyly type 1, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Polydactyly of a biphalangeal thumb and/or hallux
OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral
OBSOLETE: Preaxial polydactyly type 1, bilateral
OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral
OBSOLETE: Preaxial polydactyly type 2, unilateral
OBSOLETE: Unilateral PPD2
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Polydactyly of a triphalangeal thumb
OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral
OBSOLETE: Bilateral PPD2
OBSOLETE: Preaxial polydactyly type 2, bilateral
OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral
OBSOLETE: Preaxial polydactyly type 3, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Polydactyly of an index finger
OBSOLETE: Polydactyly of an index finger, unilateral
OBSOLETE: Preaxial polydactyly type 3, bilateral
OBSOLETE: Polydactyly of an index finger, bilateral
OBSOLETE: Preaxial polydactyly type 4, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Polysyndactyly
OBSOLETE: Preaxial polydactyly type 4, bilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Postaxial polydactyly type A
OBSOLETE: Postaxial polydactyly type A, unilateral
OBSOLETE: Postaxial polydactyly type A, bilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Postaxial polydactyly type B
OBSOLETE: Postaxial polydactyly type B, unilateral
OBSOLETE: Postaxial polydactyly type B, bilateral
OBSOLETE: Mesoaxial polydactyly of fingers, unilateral
OBSOLETE: Mirror hand, unilateral
OBSOLETE: Central polydactyly of fingers, unilateral
OBSOLETE: Mesoaxial polydactyly of fingers, bilateral
OBSOLETE: Mirror hand, bilateral
OBSOLETE: Central polydactyly of fingers, bilateral
OBSOLETE: Bifid great toes, unilateral
OBSOLETE: Bifid halluces, unilateral
OBSOLETE: Bifid hallux, unilateral
OBSOLETE: Preaxial polydactyly of toes, unilateral
OBSOLETE: Bifid great toes, bilateral
OBSOLETE: Bifid halluces, bilateral
OBSOLETE: Bifid hallux, bilateral
OBSOLETE: Preaxial polydactyly of toes, bilateral
OBSOLETE: Postaxial polydactyly of toes, unilateral
OBSOLETE: Postaxial polydactyly of toes, bilateral
OBSOLETE: Mesoaxial polydactyly of toes, unilateral
OBSOLETE: Mirror foot, unilateral
OBSOLETE: Central polydactyly of toes, unilateral
OBSOLETE: Mesoaxial polydactyly of toes, bilateral
OBSOLETE: Mirror foot, bilateral
OBSOLETE: Central polydactyly of toes, bilateral
SD1, Weidenreich type
SD1a
Syndactyly type 1, Weidenreich type
Syndactyly type 1a
Zygodactyly, Weidenreich type
SD1, Lueken type
SD1b
Syndactyly type 1, Lueken type
Syndactyly type 1b
Zygodactyly, Lueken type
SD1, Montagu type
SD1c
Syndactyly type 1, Montagu type
Syndactyly type 1c
Zygodactyly, Montagu type
SD1, Castilla type
SD1d
Syndactyly type 1, Castilla type
Syndactyly type 1d
Zygodactyly, Castilla type
SD2, Vordingborg type
SD2a
SPD, Vordingborg type
SPD1
Synpolydactyly, Vordingborg type
SD2, Debeer type
SD2b
SPD, Debeer type
SPD2
Synpolydactyly, Debeer type
SD2, Malik type
SD2c
SPD, Malik type
SPD3
Synpolydactyly, Malik type
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.
Adducted thumbs-arthrogryposis syndrome, Christian type
OBSOLETE: Humero-radio-ulnar fusion, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated humero-radio-ulnar synostosis
OBSOLETE: Humero-radio-ulnar synostosis, unilateral
OBSOLETE: Humero-radio-ulnar fusion, bilateral
OBSOLETE: Humero-radio-ulnar synostosis, bilateral
OBSOLETE: Humero-radial fusion, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated humero-radial synostosis
OBSOLETE: Humero-radial synostosis, unilateral
OBSOLETE: Humero-radial fusion, bilateral
OBSOLETE: Humero-radial synostosis, bilateral
OBSOLETE: Humero-ulnar fusion, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated humero-ulnar synostosis
OBSOLETE: Humero-ulnar synostosis, unilateral
OBSOLETE: Humero-ulnar fusion, bilateral
OBSOLETE: Humero-ulnar synostosis, bilateral
OBSOLETE: Radio-ulnar fusion, unilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated radio-ulnar synostosis
OBSOLETE: Radio-ulnar synostosis, unilateral
OBSOLETE: Radio-ulnar fusion, bilateral
OBSOLETE: Radio-ulnar synostosis, bilateral
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Léri-Weill dyschondrosteosis
OBSOLETE: Madelung deformity, unilateral
Congenital elbow dislocation, unilateral
A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen's syndrome).
A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Congenital patella dislocation
OBSOLETE: Congenital patella dislocation, unilateral
OBSOLETE: Congenital patella dislocation, bilateral
Macrodactyly of hand, unilateral
Macrodactyly of hand, bilateral
Macrodactyly of foot, unilateral
Macrodactyly of foot, bilateral
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.
Musculocontractural Ehlers-Danlos syndrome
Brachydactyly-scoliosis-carpal fusion syndrome
Prata-Liberal-Goncalves syndrome
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
Prieto-Badia-Mulas syndrome
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Mulvihill-Smith syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described.
Progeria-short stature-pigmented nevi syndrome
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
A rare primary bone dysplasia characterized by multiple enchondromas (benign cartilage-forming tumors). The lesions are generally unilateral or asymmetrically distributed. The most common affected site is the appendicular skeleton.
Cutis laxa-corneal clouding-intellectual disability syndrome
Progeroid syndrome, De Barsy type
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Petty syndrome
Petty-Laxova-Wiedemann syndrome
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.
Worldwide AND has_cases/families_value : 55.0 (Family(ies))
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.
Belgium AND has_point_prevalence_average_value : 62.0 AND has_point_prevalence_range : 6-9 / 10 000
Europe AND has_point_prevalence_average_value : 50.7 AND has_point_prevalence_range : 1-5 / 10 000
Malta AND has_annual_incidence_average_value : 2.05 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_point_prevalence_average_value : 45.7 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 44.4 AND has_point_prevalence_range : 1-5 / 10 000
Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
MRJ
DnaJ heat shock protein family (Hsp40) member B6
pf22
BOV-1A
BOV-1B
BOV-1C
Y14
ZNRP
binder of OVCA1
exon junction complex core component Y14
TCI deficiency
Transcobalamin I deficiency
A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.
LAD
A rare primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis, recurrent infections, and delayed detachment of the umbilical cord.
Latin America AND has_point_prevalence_range : <1 / 1 000 000
Worldwide AND has_cases/families_value : 350.0 (Case(s))
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.
TBE
An infectious disease characterized by central nervous system (CNS) involvement caused by the TBE virus (TBEV) and transmitted to humans principally by the bite of ticks from the Ixodes genus. The symptomatology is often biphasic, with the initial phase being associated with a nonspecific febrile illness and the second phase with meningitis, meningoencephalitis or meningoencephalomyelitis.
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.
Canada AND has_birth_prevalence_average_value : 3.42 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudoadrenoleukodystrophy
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Stoelinga-de Koomen-Davis syndrome
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Kir6.1
potassium inwardly rectifying channel subfamily J member 8
DNA repair protein RAD51 homolog 4
HsTRAD
R51H3
Recombination repair protein
Trad
recombination repair protein
46,XX disorder of sex development-anorectal anomalies syndrome
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
46,XX difference of sex development-anorectal anomalies syndrome
5-Opase
OPLA
46,XX disorder of sex development-skeletal anomalies syndrome
A rare difference of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.
46,XX difference of sex development-skeletal anomalies syndrome
Patterson pseudoleprechaunism syndrome
Patterson syndrome
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
Pseudoleprechaunism syndrome, Patterson type
ASC1p50
CGI-18
activating signal cointegrator 1 complex subunit 1
CIP syndrome
CIPO
CIPO syndrome
CIPS
A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut.
Chronic intestinal pseudoobstruction syndrome
MNGIE
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Mitochondrial neurogastrointestinal encephalomyopathy
Pseudopapilledema-blepharophimosis-hand anomalies syndrome
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
Thiolase deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bifunctional enzyme deficiency
46,XX DSD
46,XX disorder of sex development
Episodic spontaneous hypothermia
Shapiro syndrome
A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.
Disorder of sex development-intellectual disability syndrome
Verloes-Gillerot-Fryns syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994.
Difference of sex development-intellectual disability syndrome
Absent eyebrows and eyelashes-intellectual disability syndrome
Hal-Berg-Rudolph syndrome
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.
Math5
bHLHa13
Disorder of thiamine metabolism and transport
A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.
SLC25A8
Khalifa-Graham syndrome
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Pterygium colli-intellectual disability-digital anomalies syndrome
A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.
Worldwide AND has_cases/families_value : 64.0 (Case(s))
Autosomal recessive multiple pterygium syndrome
Acetylcholine receptor, muscarinic 3
acetylcholine receptor, muscarinic 3
m3AChR
DNA-binding protein RFX6
P450RAI-2
cytochrome P450 family 26 subfamily B member 1
hsa-mir-184
HTPK1
PP20
Placental protein 20
Thiamine diphosphokinase
Thiamine kinase
Thiamine pyrophosphokinase 1
placental protein 20
thiamine diphosphokinase
thiamine kinase
thiamine pyrophosphokinase 1
Haspeslagh-Fryns-Muelenaere syndrome
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.
Short stature-craniofacial anomalies-genital hypoplasia syndrome
CD156B
TNF-alpha convertase enzyme
a disintegrin and metalloproteinase 17
cSVP
cartilage snake venom-like protease
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns-Aftimos syndrome (FA; pachygyria, epilepsy, intellectual disability, dysmorphism) corresponds to the appearance of Baraitser-Winter cerebrofrontofacial syndrome (BWS) in elder patients.
Baraitser-Winter cerebrofrontofacial syndrome
Heart Under Glass
Hug
JBTS17
ciliogenesis and planar polarity effector complex subunit 1
RAV2
ROGD1
MSAP
S-methyl-5'-thioadenosine phosphorylase
c86fus
cAMP-specific 3',5'-cyclic phosphodiesterase 4D
phosphodiesterase E3 dunce homolog (Drosophila)
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
N-acetylglucosaminylphosphatidylinositol deacetylase
PIG-L
phosphatidylinositol glycan anchor biosynthesis class L
DDX13
HLP
SKI2
SKI2W
SKIV2L1
DNA repair protein XRCC2
FANCU
RAD51-like
FMT1
mitochondrial methionyl-tRNA formyltransferase
PKBG
PRKBG
RAC-gamma
protein kinase B, gamma
Tucker syndrome
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.
3MC2 syndrome
Carnevale-Krajewska-Fischetto syndrome
Mingarelli syndrome
OSA syndrome
Oculo-skeletal-abdominal syndrome
Ptosis-strabismus-rectus abdominis diastasis syndrome
McPherson-Hall syndrome
A rare genetic eye disease characterized by the combination of ptosis, strabismus and ectopic pupils. There have been no further descriptions in the literature since 1976.
Ptosis-strabismus-ectopic pupils syndrome
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency
A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.
A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.
FMPP
Familial gonadotropin-independent male-limited sexual precocity
Male-limited precocious puberty
Testotoxicosis
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
Familial peripheral male-limited precocious puberty
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
FKBP14-related EDS
FKBP22-deficient EDS
Kyphoscoliotic EDS due to FKBP22 deficiency
kEDS-FKBP14
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
ITP
Immune thrombocytopenic purpura
A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.
Denmark AND has_annual_incidence_average_value : 2.68 AND has_annual_incidence_range : 1-9 / 100 000
Denmark AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 6.75 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 2.9 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 9.5 AND has_point_prevalence_range : 1-9 / 100 000
P101-PI3K
phosphoinositide-3-kinase regulatory subunit 5
alpha2delta-1
lncRNA-N3
calcium voltage-gated channel auxiliary subunit alpha2delta 1
Bone fragility-contractures-arterial rupture-deafness syndrome
Bone fragility-contractures-arterial rupture-hearing loss syndrome
Connective tissue disorder due to LH3 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Transient infantile hypertriglyceridemia and fatty liver
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
Transient infantile hypertriglyceridemia and hepatosteatosis
Severe congenital hypochromic sideroblastic anemia
A very rare severe non-syndromic hypochromic anemia characterized by transfusion-dependent hypochromic, poorly regenerative anemia and iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
Severe congenital hypochromic anemia with ringed sideroblasts
Camera syndrome
A rare lethal chondrodysplasia characterized by severe generalized osteosclerosis. Main clinical manifestations include large head, palpebral edema, flat nose, low-set ears, hexagon-like mouth, a short neck (hidden by skin folds), a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism with rather normal-length hands and feet. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere. It has a lethal outcome, either prenatally or during the early neonatal period. There have been no further descriptions in the literature since 1986.
Trisomy 11p15.4
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
Congenital cataract-deafness-severe developmental delay syndrome
Huppke-Brendel syndrome
Lethal neurodegenerative disorder due to copper transport defect
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.
Congenital cataract-hearing loss-severe developmental delay syndrome
CMT2P
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.
PPBL
Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
Worldwide AND has_cases/families_value : 154.0 (Case(s))
Persistent polyclonal B-cell lymphocytosis
EBS with nephropathy
Epidermolysis bullosa simplex with nephropathy
Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Persistent hyperplastic primary vitreous
OBSOLETE: Congenital blindness due to retinal non-attachment
Autosomal SLE
Familial SLE
Familial systemic lupus erythematosus
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
FACU
Familial atypical cold urticaria
Familial cold urticaria with common variable immunodeficiency
PLAID
A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
PLCG2-associated antibody deficiency and immune dysregulation
Familial infantile gigantism
Hereditary infantile gigantism
Hereditary pituitary hyperplasia
Infantile gigantism due to pituitary hyperplasia
X-LAG
A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.
Progeroid and marfanoid aspect-lipodystrophy syndrome
A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.
Belgium AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 0.87 AND has_lifetime_prevalence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.213 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.099 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.171 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
Spain AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.
MCAHS type 2
A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Acanthoma of the nail matrix
A rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.
Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.
PHA2D
PHA2E
CDG syndrome type Ir
CDG-Ir
CDG1R
Carbohydrate deficient glycoprotein syndrome type Ir
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type Ir
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Idiopathic infantile hypercalcemia
Infantile hypercalcaemia type 1
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
Autosomal recessive infantile hypercalcemia
Follicular pancreatocholangitis
Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.
Ampullary carcinoma
Ampulloma
Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.
France AND has_annual_incidence_average_value : 0.59 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.57 AND has_annual_incidence_range : 1-9 / 1 000 000
CPFE
A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.
Combined pulmonary fibrosis-emphysema syndrome
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to AXIN2-related attenuated familial adenomatous polyposis
Oligodontia-cancer predisposition syndrome
Antiquitin deficiency
PD-DEE
Vitamin B6-dependent seizures
A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
Germany AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000
Pyridoxine-dependent-developmental and epileptic encephalopathy
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
A rare motor neuron disease characterized by onset before 25 years of age of progressive upper and/or lower motor neuron degeneration, leading to bulbar and limb motor impairment, with marked clinical and genetic heterogeneity.
A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Laminopathy with striated muscle involvement
Ataxia with lactic acidosis type 2
Ataxia with lactic acidosis type II
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Leigh syndrome due to PC deficiency
Leigh syndrome due to pyruvate carboxylase deficiency
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Indolent B-cell NHL
Aggressive B-cell NHL
DLBCL of the CNS
Diffuse large B-cell lymphoma of the central nervous system
THRLBCL
T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.
United States AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000
T-cell/histiocyte rich large B cell lymphoma
Primary C-ALCL
Regressive atypical histiocytosis
Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.
Primary cutaneous anaplastic large cell lymphoma
SDRPL
Splenic diffuse red pulp lymphoma
Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.
Splenic diffuse red pulp small B-cell lymphoma
HCL-v
Leukemic reticuloendotheliosis variant
Prolymphocytic variant of HCL
Prolymphocytic variant of hairy cell leukemia
A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.
United States AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000
DLBCL with chronic inflammation
Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.
Diffuse large B-cell lymphoma with chronic inflammation
ALK+ ALCL
ALK+ anaplastic large cell lymphoma
A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).
ALK-positive anaplastic large cell lymphoma
ALK- ALCL
ALK- anaplastic large cell lymphoma
A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).
ALK-negative anaplastic large cell lymphoma
Europe AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000
A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors).
Europe AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 3.85 AND has_lifetime_prevalence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000
Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.
Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Marashi-Gorlin syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculofaciocardiodental syndrome
Radiculomegaly of canine teeth- congenital cataract
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.
Absent radius-anogenital anomalies syndrome
Rambaud-Gallian syndrome
Rambaud-Gallian-Touchard syndrome
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Cherubism-gingival fibromatosis-intellectual disability syndrome
A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.
Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
Inherited epidermodysplasia verruciformis
Facial nerve palsy due to VZV
Facial nerve palsy due to herpes zoster infection
Facial nerve paralysis due to VZV
A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.
United States AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
A rare multiple congenital anomalies characterized by distinctive signs and facial associated features from which the acronym RAPADILINO is made: RA for radial ray defect, PA for patellae hypoplasia/aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
Ectodermal dysplasia syndrome, Rapp-Hodgkin type
Ectodermal dysplasia, Rapp-Hodgkin type
Hypohidrotic ectodermal dysplasia- cleft lip/palate syndrome
RHS
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Rasmussen-Johnsen-Thomsen syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.
External auditory canal atresia-vertical talus-hypertelorism syndrome
Goldblatt-Viljoen syndrome
A rare nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.
Radial ray hypoplasia-choanal atresia syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.
KIAA0590
gs114
Misu
Myc-induced SUN-domain-containing protein
RNA cytosine C(5)-methyltransferase NSUN2
SAKI
TRM4
tRNA methyltransferase 4 homolog (S. cerevisiae)
Guanine nucleotide-binding protein G(k) subunit alpha
Hsh49
SAP49
SF3b49
4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
D-ribitol-5-phosphate cytidylyltransferase
IspD
Nip
Notch1-induced protein
notch1-induced protein
KSHIVB
Kv4.3
potassium voltage-gated channel subfamily D member 3
DEB
Dermolytic epidermolysis bullosa
Epidermolysis bullosa dystrophica
A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.
Australia AND has_point_prevalence_average_value : 0.39 AND has_point_prevalence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 0.572 AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 1.41 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_point_prevalence_average_value : 0.83 AND has_point_prevalence_range : 1-9 / 1 000 000
Romania AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000
E3 ubiquitin-protein ligase LRSAM1
RIFLE
RING finger leucine repeat rich
TAL
TSG 101-associated ligase
leucine rich repeat and sterile alpha motif containing 1
SMAP2
glutamate receptor interacting protein 1
BGL
LAB300
LBA
uc.147
LPS responsive beige-like anchor protein
KIAA0233
piezo type mechanosensitive ion channel component 1 (Er blood group)
Goldston syndrome
Meckel syndrome type 7
Meckel-like syndrome type 1
Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.
Primitive renal tubule syndrome
Renotubular dysgenesis
A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.
Gonzales-del Angel syndrome
Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.
Game-Friedman-Paradice syndrome
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.
Growth delay-hydrocephaly-lung hypoplasia syndrome
BBS17
leucine zipper transcription factor like 1
CILD17
PR46b
CENP-36
Centromere protein 36
MSL1v1
NSL1
centromere protein 36
CGI-102
CGI-102 protein
Exosome component Rrp40
RRP40
Rrp40p
exosome component Rrp40
hRrp-40
hRrp40p
p10
DAND2
DRM
down-regulated in mos-transformed cells
gremlin
hereditary mixed polyposis syndrome
Mehes syndrome
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
KIAA1129
HisRS
Histidine tRNA ligase 1, cytoplasmic
Jo-1 antigen
Joâ1 antigen
histidine tRNA ligase 1, cytoplasmic
RAIDD
RIP-associated ICH1/CED3-homologous protein with death domain
CARD and death domain containing adaptor protein
KIAA0115
OST
OST48
WBP1
advanced glycation end-product receptor 1
oligosaccharyltransferase subunit 48
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Isolated atresia of bile ducts
Non-syndromic biliary atresia
A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.
Australia AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000
French Polynesia AND has_birth_prevalence_average_value : 32.0 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000
Specific population AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000
Ukraine AND has_birth_prevalence_average_value : 12.7 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 18.5 AND has_birth_prevalence_range : 1-5 / 10 000
EBS
A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
Australia AND has_point_prevalence_average_value : 0.58 AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000
Romania AND has_point_prevalence_average_value : 0.197 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.656 AND has_point_prevalence_range : 1-9 / 1 000 000
GCP6
Gamma-tubulin complex component 6
KIAA1669
gamma-tubulin complex component 6
nicotinamide nucleotide transhydrogenase
Scholte-Begeer-van Essen syndrome
Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
Intellectual disability-balding-patella luxation-acromicria syndrome
FKBP22
LH3
Lysyl hydroxlase 3
Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3
lysyl hydroxlase 3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
GATAS
Primrose syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
KIAA0078
SCC1
hHR21
kleisin
sister chromatid cohesion 1
TRISK
triadin in skeletal muscle
PETA-3
RAPH
SFA-1
TSPAN24
ADAM metallopeptidase with thrombospondin type 1 motif 17
OBSOLETE: Morillo Cucci-Passarge syndrome
OBSOLETE: Intellectual disability-unusual facies syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
ODAG
Ocular development associated gene
ocular development associated gene
DRF3
NSDAN
OBSOLETE: Davis-Lafer syndrome
OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type
GPI ethanolamine phosphate transferase 3
PIG-O
phosphatidylinositol glycan anchor biosynthesis class O
D15Ertd747e
G-protein coupled receptor 41
GPCR41
HuPAR-1
PAR1
RFT3
RFVT2
hRFT3
human porcine endogenous retrovirus subgroup A receptor 1
BIMP2
CARMA2
caspase recruitment domain family member 14
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.
Worldwide AND has_cases/families_value : 122.0 (Case(s))
Blepharophimosis-intellectual disability syndrome, SBBYS type
NOHLH
SPATA27
TEB2
bHLHe80
spermatogenesis associated 27
spermatogenesis and oogenesis specific basic helix-loop-helix 1
FXR
HRR-1
HRR1
RIP14
bile acid receptor
farnesoid X receptor
nuclear receptor subfamily 1 group H member 4
Epidermolysis bullosa atrophicans
JEB
A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
Australia AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000
Finland AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000
Ireland AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.93 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000
South Africa AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000
Sweden AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 0.04 AND has_point_prevalence_range : <1 / 1 000 000
OBSOLETE: Medrano-Roldan syndrome
OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.
Worldwide AND has_cases/families_value : 61.0 (Case(s))
Tranebjaerg-Svejgaard syndrome
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.
X-linked intellectual disability-seizures-psoriasis syndrome
Young-Hughes syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-specific syndromic intellectual disability
X-linked intellectual disability, Brooks type
Brunner syndrome
Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.
MRX35
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability, Gu type
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
A rare genetic epilepsy syndrome characterized by repeated brief focal seizures occurring between 3 and 20 months of age, typically peaking around 6 months.
United Kingdom AND has_birth_prevalence_average_value : 14.2 AND has_birth_prevalence_range : 1-5 / 10 000
LDLR relative with 11 ligand-binding repeats
LR11
LRP9
SorLA
SorLA-1
gp250
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using X-linked non-syndromic intellectual disability
OBSOLETE: X-linked intellectual disability, Raynaud type
cilia and flagella associated protein 53
interstitial collagenase
P85B
p85
p85-BETA
p85beta
phosphoinositide-3-kinase regulatory subunit beta
phosphoinositide-3-kinase regulatory subunit 2
beta-5
class IVa beta-tubulin
ELFR
MEF
OBSOLETE: X-linked intellectual disability, Schutz type
Snyder-Robinson syndrome
X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.
X-linked intellectual disability, Snyder type
OBSOLETE: X-linked intellectual disability, Wittner type
TC-PTP
TC45
TC48
TCELLPTP
TCPTP
protein tyrosine phosphatase non-receptor type 2
Acquired adult-onset immunodeficiency
Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies
A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
OBSOLETE: CSID with starch intolerance
OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch intolerance
OBSOLETE: Congenital sucrose intolerance with starch intolerance
OBSOLETE: Disaccharide intolerance with starch intolerance
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Congenital sucrase-isomaltase deficiency
OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance
OBSOLETE: CSID with minimal starch tolerance
OBSOLETE: Congenital sucrase-isomaltose malabsorption with minimal starch tolerance
OBSOLETE: Congenital sucrose intolerance with minimal starch tolerance
OBSOLETE: Disaccharide intolerance with minimal starch tolerance
OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance
OBSOLETE: CSID without starch intolerance
OBSOLETE: Congenital sucrase-isomaltose malabsorption without starch intolerance
OBSOLETE: Congenital sucrose intolerance without starch intolerance
OBSOLETE: Disaccharide intolerance without starch intolerance
OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance
OBSOLETE: CSID with starch and lactose intolerance
OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance
OBSOLETE: Disaccharide intolerance with starch and lactose intolerance
OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
OBSOLETE: CSID without sucrose intolerance
OBSOLETE: Congenital sucrose-isomaltose malabsorption without sucrose intolerance
OBSOLETE: Disaccharide intolerance without sucrose intolerance
OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance
PHTS
A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
Worldwide AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Monoamine oxidase A deficiency
X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome
ILNEB syndrome
JEB with interstitial lung disease and nephrotic syndrome
Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome
SPG48
A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.
Autosomal recessive spastic paraplegia type 48
FHHNC
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Michellis-Castrillo syndrome
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare renal tubular disease
OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria
OBSOLETE: Genetic primary hypomagnesemia with normocalciuria
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.
Isolated hereditary congenital facial paralysis
Congenital hereditary facial palsy with variable deafness
Congenital hereditary facial palsy with variable hearing loss
Congenital hereditary facial paralysis with variable deafness
Congenital hereditary facial paralysis-variable deafness syndrome
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
Congenital hereditary facial paralysis-variable hearing loss syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Hereditary poikiloderma
OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.
Porencephaly-microcephaly-bilateral congenital cataract syndrome
FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
Spherulocytosis
Subcutaneous spherulocystic disease
A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract
OBSOLETE: Autosomal dominant childhood-onset cortical cataract
A rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve ﬁber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.
Hereditary sodium channelopathy-related small fibers neuropathy
OBSOLETE: ADOS
OBSOLETE: Autosomal dominant Opitz BBB/G syndrome
OBSOLETE: Autosomal dominant Opitz syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Opitz GBBB syndrome
OBSOLETE: Autosomal dominant Opitz G/BBB syndrome
OBSOLETE: X-linked Opitz BBB/G syndrome
OBSOLETE: X-linked Opitz syndrome
OBSOLETE: XLOS
SPG1
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.
X-linked complicated spastic paraplegia type 1
Rare tumor of gallbladder and EBT
Rare tumor of gallbladder and extrahepatic biliary tract
Rare tumor of liver and IBT
Rare tumor of liver and intrahepatic biliary tract
Rare intoxication due to medical products
Complication after organ transplantation
Non-infectious iridocyclitis
Familial normophosphatemic tumoral calcinosis
Hypercalcemic tumoral calcinosis
A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Rare parkinsonian syndrome due to neurodegenerative disease
HP-HA syndrome
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.
PARK9
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
Rare parkinsonian syndrome due to intoxication
Manganese intoxication
Manganism
A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.
Delayed encephalopathy due to CO poisoning
A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.
Delayed encephalopathy due to carbon monoxide poisoning
A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.
Miscellaneous movement disorder due to neurodegenerative disease
OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
Frontotemporal neurodegeneration with movement disorder
Postinfectious autoimmune disease with chorea
A rare acquired autoimmune movement disorder characterized by chorea, hypotonia, and emotional lability. Additional clinical features may include motor impersistence and various neuropsychiatric symptoms. As a major clinical manifestation of acute rheumatic fever (ARF), the disorder typically emerges as a post-infectious complication of a group A streptococcal infection and frequently presents alongside cardiac involvement, such as clinical or subclinical carditis.
DYT21
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
HD-HA syndrome
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.
Rare disease with myoclonus as a major feature
Epilepsy and/or ataxia with myoclonus as a major feature
Non progressive epilepsy and/or ataxia with myoclonus as a major feature
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Progressive myoclonic epilepsy
OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature
A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.
Chudley-Rozdilsky syndrome
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
Intellectual disability-myopathy-short stature-endocrine defect syndrome
JME
Juvenile myoclonus epilepsy
A rare epilepsy syndrome characterized by adolescence/young adulthood onset of myoclonic with or without other generalized seizure types in an otherwise healthy individual. The electroencephalogram (EEG) shows 3-5.5 Hz generalized spike-waves and polyspike-waves. Photosensitivity is common.
Norway AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000
Rare genetic hypokinetic movement disorder
Rare parkinsonian syndrome due to genetic neurodegenerative disease
Miscellaneous movement disorder due to genetic neurodegenerative disease
Rare genetic disease with myoclonus as a major feature
FCS syndrome
Faciocutaneoskeletal syndrome
A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.
Japan AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
Diffuse PPK
Diffuse keratosis palmoplantaris
Diffuse palmoplantar hyperkeratosis
Isolated diffuse PPK
Isolated diffuse keratosis palmoplantaris
Isolated diffuse palmoplantar hyperkeratosis
Isolated diffuse palmoplantar keratoderma
Stoll-Géraudel-Chauvin syndrome
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.
Intellectual disability-short stature-hypertelorism syndrome
Lindsay-Burn syndrome
PPM-X
An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.
X-linked intellectual disability-psychosis-macroorchidism syndrome
Disease with diffuse palmoplantar hyperkeratosis as a major feature
Disease with diffuse palmoplantar keratoderma as a major feature
CHAC syndrome
CHACS
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
Curly hair-acral keratoderma-caries syndrome
Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
Autosomal dominant diffuse mutilating palmoplantar keratoderma
Gustavson syndrome
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.
Severe X-linked intellectual disability, Gustavson type
Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Focal PPK
Focal keratosis palmoplantaris
Focal palmoplantar hyperkeratosis
Isolated focal PPK
Isolated focal keratosis palmoplantaris
Isolated focal palmoplantar hyperkeratosis
Disease with focal palmoplantar hyperkeratosis as a major feature
Disease with focal palmoplantar keratoderma as a major feature
Mutchinick syndrome
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
Intellectual disability, Buenos-Aires type
HOPP syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Punctate PPK
Punctate keratosis palmoplantaris
Punctate palmoplantar hyperkeratosis
Marginal papular palmoplantar hyperkeratosis
Marginal papular palmoplantar keratoderma
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
Wolff-Zimmermann syndrome
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.
PPKP3 without elastoidosis
PPPK3 without elastoidosis
Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
Punctate palmoplantar keratoderma type 3 without elastoidosis
A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.
Disease with punctate palmoplantar hyperkeratosis as a major feature
Disease with punctate palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
BHC80
BM-006
KIAA1696
BRIL
DSPA1
Fragilis4
Hrmp1
dispanin subfamily A member 1
fragilis4
interferon induced transmembrane protein 5
Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.
France AND has_point_prevalence_average_value : 0.046 AND has_point_prevalence_range : <1 / 1 000 000
Erythrokeratoderma variabilis progressiva
Kozlowski-Krajewska syndrome
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
Intellectual disability-polydactyly-uncombable hair syndrome
KIAA1455
TEN3
Ten-M3
Dyn4
Functional methionine synthase deficiency type cblDv1
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
MOCOD type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
MOCOD type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Pigmentary retinopathy-intellectual disability syndrome
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
MOCOD type C
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Disorder of beta and omega amino acid metabolism
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
MCEE deficiency
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Vitamin B12-responsive methylmalonic aciduria, type cblDv2
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Disorder of neutral amino acid transport
Erythrocyte GALE deficiency
Erythrocyte GALE-D
Erythrocyte UDP-galactose-4-epimerase deficiency
Erythrocyte epimerase deficiency galactosemia
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
Erythrocyte galactose epimerase deficiency
Generalized GALE deficiency
Generalized GALE-D
Generalized UDP-galactose-4-epimerase deficiency
Generalized epimerase deficiency galactosemia
Generalized uridine diphosphate galactose-4-epimerase deficiency
Generalized galactose epimerase deficiency
Edwards-Sethi syndrome
Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
GSD due to glycogen synthase deficiency
Glycogenosis due to glycogen synthase deficiency
Glycogen storage disease due to glycogen synthase deficiency
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
Netherlands AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000
Glycogen storage disease due to acid maltase deficiency, infantile onset
OBSOLETE: Alpha-1,4-glucosidase acid deficiency, juvenile onset
OBSOLETE: GSD due to acid maltase deficiency, juvenile onset
OBSOLETE: GSD type 2, juvenile onset
OBSOLETE: Glycogen storage disease type 2, juvenile onset
OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset
OBSOLETE: Glycogenosis type 2, juvenile onset
OBSOLETE: Pompe disease, juvenile onset
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Glycogen storage disease due to acid maltase deficiency, late-onset
OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset
ADVIRC
A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
Autosomal dominant vitreoretinochoroidopathy
OBSOLETE: Alpha-1,4-glucosidase acid deficiency, adult onset
OBSOLETE: GSD due to acid maltase deficiency, adult onset
OBSOLETE: GSD type 2, adulte onset
OBSOLETE: Glycogen storage disease type 2, adult onset
OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset
OBSOLETE: Glycogenosis type 2, adult onset
OBSOLETE: Pompe disease, adult onset
OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset
GBE deficiency, progressive hepatic form
GSD due to glycogen branching enzyme deficiency, progressive hepatic form
GSD type 4, progressive hepatic form
GSDIV, progressive hepatic form
Glycogen storage disease type 4, progressive hepatic form
Glycogen storage disease type IV, progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogenosis type 4, progressive hepatic form
Glycogenosis type IV, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
GBE deficiency, non progressive hepatic form
GSD due to glycogen branching enzyme deficiency, non progressive hepatic form
GSD type 4, non progressive hepatic form
GSDIV, non progressive hepatic form
Glycogen storage disease type 4, non progressive hepatic form
Glycogen storage disease type IV, non progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogenosis type 4, non progressive hepatic form
Glycogenosis type IV, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
GBE deficiency, fatal perinatal neuromuscular form
GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GSD type 4, fatal perinatal neuromuscular form
GSDIV, fatal perinatal neuromuscular form
Glycogen storage disease type 4, fatal perinatal neuromuscular form
Glycogen storage disease type IV, fatal perinatal neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogenosis type 4, fatal perinatal neuromuscular form
Glycogenosis type IV, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GBE deficiency, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSD type 4, congenital neuromuscular form
GSDIV, congenital neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Glycogen storage disease type IV, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Glycogenosis type IV, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
GBE deficiency, childhood combined hepatic and myopathic form
GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GSD type 4, childhood combined hepatic and myopathic form
GSDIV, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogen storage disease type IV, childhood combined hepatic and myopathic form
Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogenosis type 4, childhood combined hepatic and myopathic form
Glycogenosis type IV, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GBE deficiency, childhood neuromuscular form
GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
GSD type 4, childhood neuromuscular form
GSDIV, childhood neuromuscular form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogen storage disease type IV, childhood neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogenosis type 4, childhood neuromuscular form
Glycogenosis type IV, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alström syndrome
GBE deficiency, adult neuromuscular form
GSD due to glycogen branching enzyme deficiency, adult neuromuscular form
GSD type 4, adult neuromuscular form
GSDIV, adult neuromuscular form
Glycogen storage disease type 4, adult neuromuscular form
Glycogen storage disease type IV, adult neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogenosis type 4, adult neuromuscular form
Glycogenosis type IV, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Dyskeratosis congenita with bilateral exudative retinopathy
Retinopathy-anemia-central nervous system anomalies syndrome
Revesz-DeBuse syndrome
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Childhood-onset epilepsy syndrome
Congenital pulmonary venous connection anomaly
A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.
Congenital pulmonary venous return anomaly
Disorder of carbohydrate absorption and transport
LPL deficiency
United States AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
Familial APOC2 deficiency
Familial apoC-II deficiency
MKD
A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.
Disorder of lipid absorption and transport
Pancreatic triglyceride lipase deficiency
A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.
Pancreatic triacylglycerol lipase deficiency
A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.
Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.
Combined pancreatic lipase-colipase deficiency
Disorder of fatty acid oxidation and ketogenesis
3-hydroxyacyl-CoA dehydrogenase deficiency
Disorder of carnitine cycle and carnitine transport
Metabolic disease due to other fatty acid oxidation disorder
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Mitochondrial disorder due to a defect in mitochondrial protein synthesis
OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA
Hyperalaninemia
A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.
Sweden AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000
Beta-hexosaminidase subunit beta deficiency, infantile form
GM2 gangliosidosis, Sandhoff variant, infantile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
Beta-hexosaminidase subunit beta deficiency, juvenile form
GM2 gangliosidosis, Sandhoff variant, juvenile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
Beta-hexosaminidase subunit beta deficiency, adult form
GM2 gangliosidosis, Sandhoff variant, adult form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
Acute infantile Tay-Sachs disease
Beta-hexosaminidase subunit alpha deficiency, infantile form
GM2 gangliosidosis, Tay-Sachs variant, infantile form
GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form
HEXA disorder, infantile form
Beta-hexosaminidase subunit alpha deficiency, juvenile form
GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form
GM2 gangliosidosis, Tay-Sachs variant, juvenile form
HEXA disorder, juvenile form
Subacute juvenile Tay-Sachs disease
Beta-hexosaminidase subunit alpha deficiency, adult form
GM2 gangliosidosis, Tay-Sachs variant, adult form
GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form
HEXA disorder, adult form
Late-onset Tay-Sachs disease
Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.
OBSOLETE: GM2 gangliosidosis, B1 variant
OBSOLETE: Hexosaminidase A deficiency, B1 variant
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Tay-Sachs disease
HOMG1
HSH
Hypomagnesemia caused by selective magnesium malabsorption
Hypomagnesemia intestinal type 1
Intestinal hypomagnesemia with secondary hypocalcemia
PHSH
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Primary hypomagnesemia with secondary hypocalcemia
Hexosaminidase activator deficiency
GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
Hereditary CDI
Hereditary neurogenic diabetes insipidus
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
Hereditary arginine vasopressin deficiency
Atypical Gaucher disease due to saposin C deficiency
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.
Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.
Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, adult form
MLD, adult form
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.
Metachromatic leukodystrophy, adult form
Lysosomal alpha-D-mannosidase deficiency, infantile form
Lysosomal alpha-D-mannosidase deficiency, adult form
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
Australia AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000
Czech Republic AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000
Europe AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000
GALNS deficiency
Galactosamine-6-sulfatase deficiency
MPS4A
MPSIVA
Morquio disease type A
Mucopolysaccharidosis type IVA
N-acetylgalactosamine-6-sulfate sulfatase deficiency
Australia AND has_birth_prevalence_average_value : 0.497 AND has_birth_prevalence_range : 1-9 / 1 000 000
Australia AND has_point_prevalence_average_value : 0.153 AND has_point_prevalence_range : 1-9 / 1 000 000
Brazil AND has_point_prevalence_average_value : 0.0848 AND has_point_prevalence_range : <1 / 1 000 000
Canada AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Arab Emirates AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000
United Arab Emirates AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 0.029 AND has_point_prevalence_range : <1 / 1 000 000
A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.
Beta-D-galactosidase deficiency
MPS4B
MPSIVB
Morquio disease type B
Mucopolysaccharidosis type IVB
United States AND has_birth_prevalence_average_value : 0.004 AND has_birth_prevalence_range : <1 / 1 000 000
United States AND has_point_prevalence_average_value : 0.001 AND has_point_prevalence_range : <1 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000
Free sialic acid storage disease, infantile form
Sweden AND has_birth_prevalence_average_value : 1.59 AND has_birth_prevalence_range : 1-9 / 100 000
Disorder of lysosomal-related organelles
Disorder of O-N-acetylgalactosaminylglycan synthesis
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Atypical RTT
Rett syndrome variant
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.
Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Defect in COG complex
Defect in conserved oligomeric Golgi complex
A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.
Meacham-Winn-Culler syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
A very rare disorder of sex development characterized by atypical internal and external genital development, presenting as ambiguous or female-appearing external genitalia despite a 46,XY karyotype. It is also associated with diaphragmatic defects, complex congenital cardiac malformations, pulmonary abnormalities, and, in some cases, splenic and renal anomalies.
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies including short stature, dislocated hips and bifid distal phalanx of the thumb. Craniofacial features include microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia and short neck. Pulmonary stenosis, delayed psychomotor development and mild flexion contractures of the elbows have also been reported. There have been no further descriptions in the literature since 1987.
Rhizomelic chondrodysplasia punctata type 3
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Disorder of porphyrin and heme metabolism
Disorder of bilirubin metabolism and excretion
Disorder of metabolite absorption and transport
Disorder of vitamin and non-protein cofactor absorption and transport
Disorder of other vitamins and cofactors metabolism and transport
Disorder of mineral absorption and transport
Disorder of iron metabolism and transport
Disorder of zinc metabolism and transport
A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Acute rheumatic fever
Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.
Australia AND has_annual_incidence_average_value : 100.0 AND has_annual_incidence_range : >1 / 1000
Canada AND has_annual_incidence_average_value : 12.5 AND has_annual_incidence_range : 1-5 / 10 000
India AND has_annual_incidence_average_value : 30.0 AND has_annual_incidence_range : 1-5 / 10 000
Latin America AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
Mexico AND has_annual_incidence_average_value : 100.0 AND has_annual_incidence_range : >1 / 1000
New Zealand AND has_annual_incidence_average_value : 7.6 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 12.5 AND has_annual_incidence_range : 1-5 / 10 000
Alpha-ketoglutarate dehydrogenase deficiency
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.
Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).
JBTS18
TECT3
Myotonia-intellectual disability-skeletal anomalies syndrome
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.
DKK-1
dickkopf Wnt signaling pathway inhibitor 1
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of highly variable limb reduction defects affecting both upper and lower limbs, growth retardation, microcephaly, craniofacial anomalies and variable neurodevelopmental delay.
Pierre Robin sequence-oligodactyly syndrome
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
AI2A4
amelogenesis imperfecta type IIA4
CBF1
CSL family DNA binding factor 1
IGKJRB
KBF2
RBP-J
RBPJK
SUH
suppressor of hairless homolog (Drosophila)
recombination signal binding protein for immunoglobulin kappa J region
FHHNC without severe ocular involvement
Renal hypomagnesemia type 3
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
KIR2.6
TTPP2
potassium inwardly rectifying channel subfamily J member 18
sarcoplasmin
AGO61
protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Saal-Greenstein syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Peters plus syndrome
The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
NMNAT
PNAT1
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
nicotinamide nucleotide adenylyltransferase 1
MRKH syndrome
Rokitansky syndrome
A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
Worldwide AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000
Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
ZNT10
ZNT8
ZRC1
Zinc transporter 8
ZnT-10
zinc resistance conferring homolog (S. cerevisiae)
zinc transporter 10
zinc transporter 8
CD49c
GAP-B3
VCA-2
VLA3a
alpha 3 subunit of VLA-3 receptor
antigen CD49C
galactoprotein b3
very late activation receptor subunit alpha-3
zeta
adaptor related protein complex 5 subunit zeta 1
SLC70A2
cyclin and CBS domain divalent metal cation transport mediator 2
Hyperbilirubinemia, Rotor type
A rare inherited metabolic liver disease characterized by benign, chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
JAM-3
JAM-C
JAMC
junctional adhesion molecule C
DFSP
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Fas-associating death domain-containing protein
Fas-associating protein with death domain
GIG3
Growth-inhibiting gene 3 protein
MORT1
Mediator of receptor-induced toxicity
growth-inhibiting gene 3 protein
mediator of receptor-induced toxicity
Sloan-Kettering Institute proto-oncogene
AKR6A5
HKvbeta2.1
HKvbeta2.2
KCNA2B
potassium voltage-gated channel subfamily A regulatory beta subunit 2
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Coxopodopatellar syndrome
Patella aplasia-coxa vara-tarsal synostosis syndrome
TENT6
TUTase1
mtPAP
immediate early response 3 interacting protein 1
dystonia 21, torsion (autosomal dominant)
CFAP39
PMCA3
Plasma membrane calcium-transporting ATPase 3
cilia and flagella associated protein 39
ATPase plasma membrane Ca2+ transporting 3
ERIC-1
ERIC1
Tacc4
maskin
transforming acidic coiled-coil containing protein 3
transforming acidic coiled-coil containing protein 1
Hereditary areflexic dystasia, Roussy-Lévy type
A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.
Worldwide AND has_cases/families_value : 185.0 (Case(s))
A group of rare hypolipidemias characterized by permanently low plasma levels (below the 5th percentile) of total cholesterol, low density lipoprotein cholesterol and apolipoprotein B. Patients may present with malnutrition, growth delay/failure, fat malabsorption, diarrhea with steatorrhea, low levels/deficiency of liposoluble vitamins A, E, and K, hepatic complications (typically hepatomegaly with steatosis, sometimes cirrhosis), neurological (such as spastic ataxia), neuromuscular and ophthalmologic manifestations including atypical retinitis pigmentosa. Diseases in this group progress more severely when they manifest in early childhood. However, benign hypobetalipoproteinemia is generally asymptomatic and occasionally associated with dietary intolerance to fat, steatorrhea after oral intake of lipids, moderate cytolysis, cholelithiasis, moderately low levels of liposoluble vitamins and acanthocytosis in adults. Moderate hepatic steatosis and paresthesia of the extremities are sometimes observed.
ARA70
ELE1
PTC3
RET-activating gene ELE1
RFG
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schinzel-Giedion syndrome
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
A rare keratinopathic ichthyosis (KPI) characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
Denmark AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 0.4317 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000
Autosomal dominant epidermolytic ichthyosis
Burkholderia pseudomallei infection
A tropical infectious disease caused by the Gram-negative bacterium Burkholderia pseudomallei, which is present in soil and water in tropical countries. Melioidosis can present itself in many ways, including pneumonia, sepsis and abscess formation.
Australia AND has_annual_incidence_average_value : 50.0 AND has_annual_incidence_range : 1-5 / 10 000
Thailand AND has_annual_incidence_average_value : 50.0 AND has_annual_incidence_range : 1-5 / 10 000
A rare bacterial infection characterized by various clinical manifestations depending on the site of infection, caused by the Gram-positive bacillus Nocardia. The most common presentation is lung infection, which typically follows pathogen inhalation. Dissemination to other organs may occur, especially among immunocompromised patients. Primary skin and soft-tissue infection follows skin inoculation.
Canada AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
A rare bacterial zoonosis characterized by fever, arthralgia and a rash predominantly affecting the extremities, typically occurring after a bite or scratch from infected rats. The disease may be caused by Streptobacillus moniliformis, also known as streptobacillosis, or by Spirillum minus, also known as sodoku.
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
OBSOLETE: Sinus node disease-myopia syndrome
Brittle hair-mental deficiency syndrome
Trichothiodystrophy type B
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.
branched chain keto acid dehydrogenase kinase
OBSOLETE: ACPS III
OBSOLETE: ACPS with leg hypoplasia
OBSOLETE: Acrocephalopolysyndactyly type 3
OBSOLETE: Sakati syndrome
OBSOLETE: Sakati-Nyhan-Tisdale syndrome
Sarcosine dehydrogenase complex deficiency
A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
Specific population AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000
A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.
Norway AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000
Komuragaeri disease
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.
Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.
OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. There have been no further descriptions in the literature since 1989.
NON RARE IN EUROPE: Scheuermann juvenile kyphosis
NON RARE IN EUROPE: Spinal osteochondrosis
NON RARE IN EUROPE: Scheuermann's disease
NAGA deficiency
Schindler disease
A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
Alpha-N-acetylgalactosaminidase deficiency
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
20p subtelomeric deletion syndrome
Del(20)(p13)
Monosomy 20p13
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.
Worldwide AND has_cases/families_value : 128.0 (Case(s))
Optic nerve edema-splenomegaly syndrome
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
ALSP
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
FPSG
Familial dementia, Neumann type
Familial progressive subcortical gliosis
GPSC
HDLS
Hereditary diffuse leukoencephalopathy with spheroids
POLD
Pigmentary orthochromatic leukodystrophy
Subcortical gliosis of Neumann
A rare leukodystrophy characterized by progressive cognitive impairment, neuropsychiatric features, motor dysfunction involving parkinsonian symptoms, gait disturbances, spasticity and speech impairment. Epilepsy, stroke-like episodes, sensory dysfunction, dizziness, fatigue, urinary and fecal incontinence are commonly observed in affected individuals. Neuroaxonal spheroids and pigmented (iron or lipofuscin) macrophages and glial cells, together with diffuse myelin loss and axonal destruction, are major histopathological hallmarks.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Early B-cell factor associated zinc finger protein
Ebf-associated zinc finger protein
Ebfaz
JBTS19
KIAA0760
NPHP14
OAZ
OLF-1/EBF associated zinc finger gene
Roaz
Smad- and Olf-interacting zinc finger protein
Zfp104
hOAZ
KIAA1052
NPHP15
CRMCC
Cerebroretinal microangiopathy with calcifications and cysts
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
A rare neurometabolic disease characterized by infantile onset truncal ataxia/hypotonia, athetosis, generalized seizures and ophthalmologic abnormalities notably optic atrophy and retinal degeneration (strabismus, nystagmus, abnormal eye movements, and abnormal pursuit can also be present). Additional clinical features may include cerebral changes (thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy), severely delayed global and psychomotor development with profound intellectual disability, failure to thrive, muscle atrophy and hyperreflexia. Most patients are not able to walk. Some patients may have milder and variable phenotype including mild developmental delay, ataxia and behavioral abnormalities. Short stature, moderate to severe sensorineural hearing loss, dysmorphic facial features (including prominent forehead, downslanting palpebral fissures, droopy eyelids, bifid uvula, submucous cleft palate) are also reported in some patients.
Infantile cerebellar-retinal degeneration
Perinatal lethal bent bone dysplasia
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.
Monosomy 12p12.1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Developmental and speech delay due to SOX5 deficiency
Neonatal congenital pancreatic cyst
True congenital pancreatic cyst
A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).
EBV-associated gastric carcinoma
EBVaGC
A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.
Epstein-Barr virus-associated gastric carcinoma
Papular epidermal nevi with skyline basal cell layers syndrome
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported.
Trisomy 2q23.1
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
Leiner disease
A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.
United States AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 6-9 / 10 000
Dinno syndrome
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.
Idiopathic linear interstitial keratitis
Familial fundic gland polyposis with gastric cancer
GAPPS
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.
Gastric adenocarcinoma and proximal polyposis of the stomach
High bone mass OI
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.
Trisomy 7p22.1
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
COXPD12
Combined oxidative phosphorylation defect type 12
LTBL
A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
APS type 2
APS2
Autoimmune polyendocrine syndrome type 2
Autoimmune polyglandular syndrome type 2
Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
Schmidt syndrome
A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.
A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Meconium ileus due to guanylate cyclase 2C deficiency
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Familial dysautonomia with contractures
HSAN6
Hereditary sensory and autonomic neuropathy type VI
A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy.
Hereditary sensory and autonomic neuropathy type 6
Kaya-Prontera syndrome
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
SOFT syndrome
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal dominant aplastic anemia and myelodysplasia
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.
Autosomal dominant aplasia and myelodysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
A rare spondylodysplastic dysplasia characterized by the typical radiographic finding of snail-like configuration of the hypoplastic iliac bones. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus. The malformation is lethal perinatally.
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.
A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.
Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.
Spigelian hernia-cryptorchidism syndrome
Demons-Meigs syndrome
Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.
Pseudo-Demons-Meigs syndrome
A rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.
Atypical Demons-Meigs syndrome
Incomplete Meigs syndrome
A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.
A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.
Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).
Autosomal recessive distal spinal muscular atrophy type 5
Young adult-onset dHMN
dSMA5
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
Young adult-onset distal hereditary motor neuropathy
Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
Hamamy syndrome
A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
PPAOS
Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
Distal tetrasomy 15q
Tetrasomy 15(q25-qter)
Tetrasomy 15q26
Triplication 15q25-qter
Triplication 15q26
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
ARSAL
Autosomal recessive spastic ataxia type 3
SPAX3
A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.
Autosomal recessive spastic ataxia with leukoencephalopathy
A rare neoplastic disorder characterized by benign metastatic masses increasing in size and number after chemotherapy for non-seminomatous germ cell tumors of testis or ovary. It may present at any time after chemotherapy, with a median occurrence within 24 months after treatment completion. Per definition, the resected specimen exclusively contains mature teratoma components, and serum tumor markers have normalized. The retroperitoneum is the most common site, although almost any other localization has been reported. Increased tumor size may cause mechanical compression of vital organs, with renal dysfunction, bowel ischemia, and biliary obstruction as major complications.
DPG-plus syndrome
Duplication of the pituitary gland-plus syndrome
Hypophyseal duplication
A rare midline cerebral malformation characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).
NCL11
Neuronal ceroid lipofuscinosis type 11
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Juvenile parkinsonism-neuronal ceroid lipofuscinosis
NCL12
Neuronal ceroid lipofuscinosis type 12
A rare neuronal ceroid lipofuscinosis characterized by juvenile-onset (11-13 years) ataxia, unsteady gait, severe myoclonus and mood disturbance, progressing with clear extrapyramidal symptoms (including akinesia, rigidity and dysarthric speech) in 5 years following the diagnosis.
COXPD10
Combined oxidative phosphorylation defect type 10
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
Non-progressive cerebellar ataxia with intellectual disability
Autosomal dominant beta2-microglobulinic amyloidosis
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
5q31.3 microdeletion syndrome
Monosomy 5q31.3
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
CDG syndrome type IIk
CDG-IIk
CDG2K
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
Congenital disorder of glycosylation type IIk
TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
Van Maldergem syndrome
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.
CID due to STK4 deficiency
A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
Combined immunodeficiency due to STK4 deficiency
Systemic AL amyloidosis
Localized AL amyloidosis
A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Dentin dysplasia type 1 with microdontia and shape anomalies
A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.
Atypical dentin dysplasia due to SMOC2 deficiency
MT1-MMP
membrane type 1 metalloprotease
membrane type 1-matrix metalloproteinase
Rare disease with adrenal Cushing syndrome as a major feature
Endocrine active pituitary adenoma
Secreting pituitary adenoma
Mixed secreting pituitary adenoma
GH and PRL cosecreting pituitary adenoma
Growth hormone and prolactin cosecreting pituitary adenoma
Somatolactotropinoma
Somatoprolactinoma
A rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.
FIPA
A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.
MPNST
Malignant neurilemmoma
Malignant neurofibroma
Malignant schwannoma
Neurofibrosarcoma
Neurogenic sarcoma
Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.
Short stature due to partial growth hormone receptor deficiency
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Short stature due to partial GHR deficiency
Ghrelin receptor deficiency
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.
AD pRTA
A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.
Autosomal dominant proximal renal tubular acidosis
VAMP-1
Infantile Canavan disease
Neonatal Canavan disease
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Juvenile Canavan disease
Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
NON RARE IN EUROPE: Chronic adult hydrocephalus
NON RARE IN EUROPE: Normal pressure hydrocephalus
TSP-EAR
thrombospondin type laminin G domain and EAR repeats
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Pulmonary non-tuberculous mycobacterial infection
OBSOLETE: Mycobacterium xenopi infection
Clonal hypereosinophilic syndrome
HES-M
HES-N
Neoplastic hypereosinophilic syndrome
Primary HES
A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.
HES-R
Reactive hypereosinophilic syndrome
Secondary HES
A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.
HES-L
Lymphocytic variant HES
Lymphoid HES
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
X-linked non progressive cerebellar ataxia
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
Cataract-congenital heart disease-neural tube defect syndrome
Degos genodermatosis "en cocardes"
A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Cortical hyperostosis-syndactyly syndrome
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
NON RARE IN EUROPE: Adolescent idiopathic scoliosis
Classic 21-OHD CAH, salt wasting form
A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.
Europe AND has_point_prevalence_average_value : 7.5 AND has_point_prevalence_range : 1-9 / 100 000
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic 21-OHD CAH, simple virilizing form
A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Autoimmune disease with skin involvement
Phenylalanine tRNA ligase 2, mitochondrial
mtPheRS
phenylalanyl-tRNA synthetase 2, mitochondrial
DAPPER
DAPPER1
FRODO
HDPR1
THYEX3
dishevelled binding antagonist of beta catenin 1
Lysosomal cobalamin transporter ABCD4
P70R
PMP69
ATP binding cassette subfamily D member 4
KIAA1320
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
CSDD2
lin-28 RNA binding posttranscriptional regulator B
IFI15
UCRP
ICSBP
IRF-8
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
De Morsier syndrome
SOD
Septo-optic dysplasia
A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Europe AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
AF15Q14
CT29
D40
KIAA1570
PPP1R55
Spc7
blinkin, bub-linking kinetochore protein
cancer/testis antigen 29
hKNL-1
hSpc105
kinetochore null 1 homolog (C. elegans)
protein phosphatase 1, regulatory subunit 55
CILD18
Darier-Gottron disease
Erythrokeratodermia progressiva symmetrica
Progressive symmetric erythrokeratodermia, Gottron type
Progressive symmetric erythrokeratodermia
Congenital bronchopulmonary sequestration
Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.
Sézary lymphoma
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Norway AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
United States AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
SPAX
AD-SPAX
AR-SPAX
Partial deletion of chromosome 12p
Partial monosomy of chromosome 12p
Partial monosomy of the short arm of chromosome 12
Partial deletion of the short arm of chromosome 12 syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.
kinase interacting protein 2
calcium and integrin binding family member 2
CILD5
KIAA1864
PPP1R31
protein phosphatase 1, regulatory subunit 31
HYDIN axonemal central pair apparatus protein
ShprintzenGoldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
Omphalocele syndrome, Shprintzen-Goldberg type
Diffuse fasciitis with eosinophilia
Shulman syndrome
A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.
France AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000
Sialuria, French type
A rare disorder of sialic acid metabolism characterized by excretion of large quantities of free sialic acid (predominantly N-acetylneuraminic acid without any morphologic evidence of storage within any subcellular organelle), mildly coarse facial features and hepatosplenomegaly. Growth and development are rather normal, however some affected individuals were reported to have moderate developmental delay, slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient failure to thrive, seizures and sleep apnea. Signs and symptoms can be transient, especially in infancy.
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.
A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.
Australia AND has_birth_prevalence_average_value : 0.79 AND has_birth_prevalence_range : 1-9 / 1 000 000
Brazil AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000
China AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000
Colombia AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 0.009 AND has_point_prevalence_range : <1 / 1 000 000
Finland AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 1.04 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 0.33 AND has_birth_prevalence_range : 1-9 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000
Latin America AND has_birth_prevalence_average_value : 1.36 AND has_birth_prevalence_range : 1-9 / 100 000
Mexico AND has_birth_prevalence_average_value : 2.36 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 0.54 AND has_birth_prevalence_range : 1-9 / 1 000 000
Slovakia AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000
Spain AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
Infantile convulsions and choreoathetosis
A rare syndrome with syndactyly characterized by partial duplication of the eyebrows (mainly in the lateral portions) and syndactyly of the fingers and toes. Additional clinical features may include long eyelashes, hypertrichosis, excessive wrinkling of the periorbital skin, congenital lip fibroma, skin hyperelasticity (on the face and chest) and hypermobility of the interphalangeal joints. There have been no further descriptions in the literature since 1989.
Tsao-Ellingson syndrome
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
CFF
HCF-1
HCF1
PPP1R89
VCAF
VP16-accessory protein
protein phosphatase 1, regulatory subunit 89
p34
PEX11beta
PEX11β
PEX11ß
Peroxisomal membrane protein 11B
CILD19
LRTP
Leucine rich testes protein
TSLRP
leucine rich testes protein
seahorse
tilB
KCa4.1
KIAA1422
SLACK
Sequence like a calcium-activated K+ channel
Slo2.2
potassium sodium-activated channel subfamily T member 1
CAMI
DD132
PHKD
PHKD1
phosphorylase kinase subunit delta
phosphorylase kinase subunit delta 1
prepro-calmodulin 1
LIM-1
LIM/homeobox protein Lhx1
TL1
TL1A
TNF ligand-related molecule 1
TNF superfamily ligand TL1A
VEGI
VEGI192A
Vascular endothelial cell growth inhibitor
Vascular endothelial growth inhibitor-192A
vascular endothelial growth inhibitor
Extrinsic allergic alveolitis
A rare, immunologically mediated, interstitial lung disease characterized by respiratory symptoms (cough, dyspnea) due to sensitization and subsequent hypersensitivity to environmental antigens. The disorder may be accompanied by systemic manifestations (weight loss, fatigue).
BOB1
OBF1
OCA-B
OCT-binding factor 1
POU class 2 homeobox associating factor 1
T-B+ SCID
T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.
T-B- SCID
T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.
T-B-NK+ SCID due to DNA-PKcs deficiency
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency
CID due to ORAI1 deficiency
Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Combined immunodeficiency due to ORAI1 deficiency
CID due to STIM1 deficiency
Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
Combined immunodeficiency due to STIM1 deficiency
Lyp
Lyp1
Lyp2
protein tyrosine phosphatase non-receptor type 22
CVID phenotype due to IKAROS functional haploinsufficiency
Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
Worldwide AND has_cases/families_value : 39.0 (Case(s))
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
CID due to MAGT1 deficiency
Combined immunodeficiency due to MAGT1 deficiency
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.
X-linked spasticity-intellectual disability-epilepsy syndrome
OTGN
mlemp
3'-5' RNA exonuclease
OLD35
PNPase
Polynucleotide phosphorylase
old-35
polynucleotide phosphorylase
polyribonucleotide nucleotidyltransferase 1
L26
uL24
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
Spain AND has_birth_prevalence_average_value : 6.1 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000
Methionine tRNA ligase 2, mitochondrial
methionine tRNA ligase 2, mitochondrial
mtMetRS
methionyl-tRNA synthetase 2, mitochondrial
C-FMS
CD115
CSFR
AAF132
alpha accessory factor 132
conserved telomere capping protein 1
conserved telomere maintenance component 1
CST telomere replication complex component 1
ACONM
aconitate hydratase, mitochondrial
mitochondrial aconitase
Der Kaloustian-Jarudi-Khoury syndrome
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.
Spinocerebellar degeneration-corneal dystrophy syndrome
L-SOX5
KIAA1970
MSE1
glutamate tRNA ligase 2, mitochondrial
mtGlnRS
glutamyl-tRNA synthetase 2, mitochondrial
GC-C
GCC
Guanylyl cyclase C
HSER
STA receptor
STAR
heat stable enterotoxin receptor
CMT2T
HSPF3
DnaJ heat shock protein family (Hsp40) member B2
IRX-2a
mitochondrial tRNA translation optimization 1
KIAA0833
calmodulin binding transcription activator 1
GDT1
SLC64A1
TMPT27
TPA regulated locus
TPARL
KRS2
Kinase responsive to stress 2
MST1
Mammalian sterile 20-like 1
YSK3
Yeast Ste20-like
hippo (Drosophila) homolog
kinase responsive to stress 2
mammalian sterile 20-like 1
yeast Ste20-like
CREB-H
CREBH
cAMP-responsive element-binding protein, hepatic-specific
cAMP responsive element binding protein 3 like 3
AML M6
Acute myeloid leukemia M6
Erythroleukemia
A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.
High scapula
A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.
Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.
Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).
A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.
A rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.
A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.
Europe AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.
Steatocystoma multiplex-natal teeth syndrome
NON RARE IN EUROPE: PCOS
NON RARE IN EUROPE: Polycystic ovarian syndrome
NON RARE IN EUROPE: Stein-Leventhal syndrome
NON RARE IN EUROPE: Polycystic ovary syndrome
Steinfeld syndrome
A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.
Holoprosencephaly-radial heart renal anomalies syndrome
IKAROS
LyF-1
PPP1R92
hIk-1
protein phosphatase 1, regulatory subunit 92
DNA-PKC
DNA-PKcs
DNA-dependent protein kinase
DNA-dependent protein kinase catalytic subunit
DNAPK
DNAPKc
DNPK1
XRCC7
protein kinase, DNA-activated, catalytic subunit
A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.
Congenital pulmonary veins atresia or stenosis
HBV pre s2 binding protein 1
SBP1
P66beta
Transcription repressor p66 beta component of the MeCP1 complex
NAK
Congenital stenosis of pulmonary valve
A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).
Croatia AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 27.2 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 63.6 AND has_birth_prevalence_range : 6-9 / 10 000
Hungary AND has_birth_prevalence_average_value : 63.1 AND has_birth_prevalence_range : 6-9 / 10 000
Italy AND has_birth_prevalence_average_value : 26.1 AND has_birth_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 48.2 AND has_birth_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000
Norway AND has_birth_prevalence_average_value : 35.3 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000
Portugal AND has_birth_prevalence_average_value : 23.7 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 25.7 AND has_birth_prevalence_range : 1-5 / 10 000
Switzerland AND has_birth_prevalence_average_value : 98.4 AND has_birth_prevalence_range : 6-9 / 10 000
Ukraine AND has_birth_prevalence_average_value : 19.4 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000
Osseous Ewing sarcoma
Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.
Europe AND has_lifetime_prevalence_average_value : 2.33 AND has_lifetime_prevalence_range : 1-9 / 100 000
K6IRS1
KRT6IRS
KRT6IRS1
Onat syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.
Subaortic stenosis-short stature syndrome
CNM4
Centronuclear myopathy type 4
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Congenital myopathy with internal nuclei and atypical cores
Distal del(17)(p13.1)
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.
Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
Diencephalic-mesencephalic junction dysplasia
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.
Chondroectodermal dysplasia with night blindness
SPG53
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
Autosomal recessive spastic paraplegia type 53
BMAH
Bilateral adrenal hemorrhage
Zambian hemorrhagic fever
Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.
EHF
Ebola fever
Ebola virus disease
Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.
Worldwide AND has_cases/families_value : 28220.0 (Case(s))
Argentinian hemorrhagic fever
Junin hemorrhagic fever
A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.
Machupo hemorrhagic fever
Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.
Guanarito hemorrhagic fever
Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.
Sabia hemorrhagic fever
Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.
Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.
A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.
Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.
Kyasanur hemorrhagic fever
Monkey disease
Monkey fever
A rare infectious disease caused by the kyasanura forest disease virus and clinically characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.
Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.
CCRCC
Clear cell renal cell adenocarcinoma
Clear cell renal cell carcinoma
A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.
Europe AND has_annual_incidence_average_value : 1.99 AND has_annual_incidence_range : 1-9 / 100 000
MCRCC
Multilocular clear cell adenocarcinoma
Multilocular clear cell carcinoma
Multilocular clear cell renal cell adenocarcinoma
Multilocular clear cell renal cell carcinoma
Multilocular cystic renal cell adenocarcinoma
Multilocular cystic renal cell carcinoma
Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.
Multilocular cystic renal neoplasm of low malignant potential
Papillary renal cell adenocarcinoma
Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
Europe AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000
A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).
Europe AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 13.3 AND has_point_prevalence_range : 1-5 / 10 000
Chromophobe renal cell adenocarcinoma
Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.
Carcinoma associated with MITF/TFE translocation
Translocation renal cell carcinoma
MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.
MiT family translocation renal cell carcinoma
OBSOLETE: Renal cell carcinoma after neuroblastoma
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Renal cell carcinoma
OBSOLETE: Renal cell carcinoma associated with neuroblastoma
Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.
Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.
Mucinous tubular and spindle cell renal carcinoma
Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.
Inherited renal cancer-predisposing syndrome
Autosomal recessive myogenic AMC
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
Autosomal recessive myogenic arthrogryposis multiplex congenita
Carney complex variant
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Carney complex-trismus-pseudocamptodactyly syndrome
CDO syndrome
Stern-Lubinsky-Durrie syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Familial AML
Inherited AML
Pure familial AML
Pure familial acute myeloid leukemia
Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.
AML with CEBPA somatic mutations
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
Acute myeloid leukemia with CEBPA somatic mutations
FNMTC
Familial pure nonmedullary thyroid carcinoma
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.
Familial papillary or follicular thyroid carcinoma
A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.
Sternal malformation-vascular dysplasia syndrome
COXPD8
Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
Combined oxidative phosphorylation defect type 8
COXPD9
Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.
Combined oxidative phosphorylation defect type 9
COXPD13
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
Combined oxidative phosphorylation defect type 13
COXPD14
Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.
Combined oxidative phosphorylation defect type 14
COXPD15
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
Combined oxidative phosphorylation defect type 15
Autosomal recessive MSMD due to a complete deficiency
A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Autosomal recessive MSMD due to a partial deficiency
A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal dominant MSMD due to a partial deficiency
A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12B deficiency
MSMD due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
MSMD due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
MSMD due to partial STAT1 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Lyngstadaas syndrome
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.
Steroid dehydrogenase deficiency-dental anomalies syndrome
MSMD due to partial IRF8 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
X-linked MSMD
X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.
X-linked mendelian susceptibility to mycobacterial diseases
OBSOLETE: X-linked MSMD due to IKBKG deficiency
OBSOLETE: X-linked MSMD due to NEMO deficiency
OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Hypohidrotic ectodermal dysplasia with immunodeficiency
OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
OBSOLETE: X-linked MSMD due to CYBB deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using X-linked mendelian susceptibility to mycobacterial diseases
OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Amyloidosis cutis dyschromica
A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.
Autosomal dominant bull's-eye macular dystrophy
PROM1-related retinal macular dystrophy
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
CDG syndrome type It
CDG-It
CDG1T
Congenital disorder of glycosylation type 1t
Congenital disorder of glycosylation type It
PGM1-related congenital disorder of glycosylation
Phosphoglucomutase-1 deficiency
A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.
DHFR deficiency
Dihydrofolate reductase deficiency
Constitutional megaloblastic anemia with severe neurologic disease
NON RARE IN EUROPE: Unexplained intellectual disability
Primary lymphoid conjunctival tumor
Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.
Microcephalic primordial dwarfism, Alazami type
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
Microcephalic primordial dwarfism, Dauber type
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
NON RARE IN EUROPE: Lactase non-persistence in adulthood
NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency
NON RARE IN EUROPE: Partial achromatopsia, protan type
NON RARE IN EUROPE: Protanopia
NON RARE IN EUROPE: Partial color blindness, protan type
NON RARE IN EUROPE: Deuteranopia
NON RARE IN EUROPE: Partial achromatopsia, deutan type
NON RARE IN EUROPE: Partial color blindness, deutan type
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
Moersch-Woltman syndrome
Stiff man spectrum disorder
A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis.
Tanzania, United Republic of AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, dwarfism, severe intellectual disability, diabetes meilitus and enamel hypoplasia associated with alaninuria and high levels of alanine pyruvate and lactate in the blood. Affected individuals have low birth weight and they often develop limb ataxia that may lead to inability to walk. There have been no further descriptions in the literature since 1970.
Pyroglutamicaciduria
A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Stoll-Alembik-Finck syndrome
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.
Arthrogryposis-ectodermal dysplasia syndrome
Stoll-Kieny-Dott syndrome
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
FSHD2
KIAA0650
structural maintenance of chromosomes flexible hinge domain containing 1
cytochrome P450 family 26 subfamily C member 1
HDCMA18P
P-TEFb-interaction protein for 7SK stability
PIP7S
La ribonucleoprotein 7, transcriptional regulator
Hereditary xerocytosis
A rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration of variable degree, and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
Denmark AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-5 / 10 000
North America AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 100 000
A rare disorder of red blood cell membrane permeability to monovalent cations characterized clinically by hemolytic anemia.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome
OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome
Pure or complex familial spastic paraplegia
Pure or complicated familial spastic paraplegia
Pure or complicated hereditary spastic paraplegia
Pure or complex hereditary spastic paraplegia
Pure or complicated autosomal dominant spastic paraplegia
Pure or complex autosomal dominant spastic paraplegia
Pure or complicated autosomal recessive spastic paraplegia
Pure or complex autosomal recessive spastic paraplegia
Pure or complicated X-linked spastic paraplegia
Pure or complex X-linked spastic paraplegia
SPG41
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.
Autosomal dominant spastic paraplegia type 41
Maternally-inherited SPG
Maternally-inherited spastic paraplegia
A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
MT-ATP6-related mitochondrial spastic paraplegia
SPG36
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.
Autosomal dominant spastic paraplegia type 36
SPG43
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.
Autosomal recessive spastic paraplegia type 55
SPG54
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
SPG46
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
Autosomal recessive spastic paraplegia type 45
Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.
Autosomal recessive spastic paraplegia type 44
SPOAN
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.
Spastic paraplegia-optic atrophy-neuropathy syndrome
SPG56
A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.
Autosomal recessive spastic paraplegia type 56
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.
Epidermal growth factor receptor kinase substrate 8-like protein 3
FBH3
FBHOk
sigma-2
adaptor related protein complex 2 subunit sigma 1
Gef10
KIAA0294
Rho guanine nucleotide exchange factor 10
Neonatal Schwartz-Jampel syndrome
SJS2
STWS
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome type 1
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
United Arab Emirates AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000
DAPLE
Dvl-associating protein with a high frequency of leucine residues
HkRP2
SCA40
spinocerebellar ataxia 40
Curatolo-Cilio-Pessagno syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
DYT23
GENX-3947
dystonia 23
transmembrane protein 16C (eight membrane-spanning domains)
2-oxoadipate dehydrogenase complex component E1
CMT2Q
E1a
KIAA1630
MGC3090
OADC-E1
OADH-E1
dehydrogenase E1 and transketolase domain containing 1
CHT1
ChT
High affinity choline transporter 1
hCHT
ACTSG
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.
Isolated succinate-CoQ reductase deficiency
signal transducer and activator of transcription 4
Bessel-Hagen disease
Multiple cartilaginous exostoses
A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.
Netherlands AND has_point_prevalence_average_value : 1.35 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carpenter syndrome
Autosomal dominant optic atrophy and congenital hearing loss
Konigsmark-Knox-Hussels syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy and congenital deafness
Jensen syndrome
hearing loss-opticoacoustic nerve atrophy-dementia syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mohr-Tranebjaerg syndrome
Deafness-opticoacoustic nerve atrophy-dementia syndrome
C/EBP homologous protein
C/EBP zeta
CHOP
CHOP10
GADD153
growth arrest and DNA-damage-inducible gene
HDM2
MGC5370
ALYE870
JBTS20
MKS11
PRO1886
Warburg-Thomsen syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Deaf blind hypopigmentation syndrome, Yemenite type
OBSOLETE: Davenport-Donlan syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic genetic deafness
OBSOLETE: Deafness-white hair-contractures-papillomas syndrome
spastic paraplegia 49
cytochrome P450 family 2 subfamily U member 1
KIAA0725
iPLA1?
iPLA1gamma
iPLA1γ
intracellular phospholipase A1 gamma
p125B
tectonin beta-propeller repeat containing 2
Conductive hearing loss-malformed external ear syndrome
Mengel-Konigsmark syndrome
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.
Conductive deafness-malformed external ear syndrome
DUPLIN
KIAA1564
chromodomain helicase DNA binding protein 8
GPCR42
PAR2
RFVT1
Riboflavin transporter 1
hRFT1
riboflavin transporter 1
Groll-Hirschowitz syndrome
Hearing loss-small bowel diverticulosis-neuropathy syndrome
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.
Deafness-small bowel diverticulosis-neuropathy syndrome
Chitty-Hall-Baraitser syndrome
Hearing loss-epiphyseal dysplasia-short stature syndrome
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-skeletal dysplasia-coarse face with full lips syndrome
Deafness-skeletal dysplasia-lip granuloma syndrome
Hearing loss-skeletal dysplasia-coarse face with full lips syndrome
Hearing loss-skeletal dysplasia-lip granuloma syndrome
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
BEEC
Bladder exstrophy-epispadias-cloacal extrophy complex
EEC
A rare non-syndromic uro-genital tract malformation characterized by a spectrum of manifestations ranging in severity: epispadias (E) is the mildest form, classic exstrophy of the bladder (CEB) is the intermediate form and cloacal exstrophy (CE) the most severe form. Exstrophy-epispadias complex (EEC) involves the bladder, the genitalia, the lower abdominal wall, the pelvis and pelvic floor, and depending on the phenotype, the spine and the anus.
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.
Deafness-enamel hypoplasia-nail defects syndrome
patatin like domain 1, omega-hydroxyceramide transacylase
Deafness-thyroid hormone resistance syndrome
Hearing loss-thyroid hormone resistance syndrome
Refetoff syndrome
CSNB1F
FIGLER4
Fibronectin type III, immunoglobulin and leucine rich repeat domains 4
leucine rich repeat, Ig-like and transmembrane domains 3
CD32
CD32B
Fc gamma receptor IIb
FcGRIIB
FcgammaRIIb
Genetic tumor of hematopoietic and lymphoid tissues
PRPP synthetase superactivity
PRPS1 superactivity
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.
Phosphoribosylpyrophosphate synthetase superactivity
Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome
Pfeiffer-Kapferer syndrome
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Tungland-Bellman syndrome
A rare endocrine disease characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. There have been no further descriptions in the literature since 1990.
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Emberger syndrome
Hearing loss-lymphedema-leukemia syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GATA2 deficiency spectrum
OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome
OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome
MOX1
Sm-E
small nuclear ribonucleoprotein polypeptide E
OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome
NON RARE IN EUROPE: FG syndrome phenotypic spectrum
Hearing loss-oligodontia syndrome
Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.
Hearing loss-onychodystrophy syndrome
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.
Hearing loss-ear malformation-facial palsy syndrome
Sellars-Beighton syndrome
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
Deafness-ear malformation-facial palsy syndrome
Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.
Cochleosaccular degeneration-cataract syndrome
CILD20
outer dynein arm docking complex subunit 1
DINE
Damage induced neuronal endopeptidase
XCE
damage induced neuronal endopeptidase
51C protein
SH2 domain-containing inositol 5'-phosphatase 2
SHIP2
phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2
inositol polyphosphate phosphatase like 1
hEPG5
ectopic P-granules 5 autophagy tethering factor
pHZ-44
MUPP1
multiple PDZ domain crumbs cell polarity complex component
Progressive hearing loss with stapes fixation
Stapedo-vestibular ankylosis
Thies-Reis syndrome
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).
Progressive deafness with stapes fixation
Conductive hearing loss-ptosis-skeletal anomalies syndrome
Jackson-Barr syndrome
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
Conductive deafness-ptosis-skeletal anomalies syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Forney syndrome
Forney-Robinson-Pascoe syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome
Mitral regurgitation-hearing loss-skeletal anomalies syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.
Hearing loss-vitiligo-achalasia syndrome
A rare otorhinolaryngologic disease characterized by congenital deafness with profound sensorineural hearing loss, short stature, vitiligo, muscle wasting, and achalasia. There have been no further descriptions in the literature since 1971.
Alpha-galactosidase A deficiency
Anderson-Fabry disease
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.
Australia AND has_birth_prevalence_average_value : 6.96 AND has_birth_prevalence_range : 1-9 / 1 000 000
China AND has_point_prevalence_average_value : 0.118 AND has_point_prevalence_range : 1-9 / 1 000 000
Czech Republic AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 1.11 AND has_birth_prevalence_range : 1-9 / 100 000
Turkey AND has_birth_prevalence_average_value : 0.015 AND has_birth_prevalence_range : <1 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 6.66 AND has_birth_prevalence_range : 1-9 / 1 000 000
Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Hearing loss-craniofacial syndrome
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
ARC
CARD2
MYP
NOP30
HCRP1
hepatocellular carcinoma related protein 1
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Early-onset Lafora body disease
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.
PRDM8-related progressive myoclonus epilepsy
T-cell immunodeficiency due to RHOH deficiency
A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.
T-cell immunodeficiency with epidermodysplasia verruciformis
EPAS1-related polycythemia-PPGL syndrome
Paraganglioma-somatostatinoma-polycythemia syndrome
A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.
EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome
Acute febrile neutrophilic dermatosis
A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced.
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Del(9)(p13)
Monosomy 9p13
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
Sinoatrial node dysfunction and hearing loss
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Sinoatrial node dysfunction and deafness
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
HIBM4
Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.
Hereditary inclusion body myopathy type 4
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
CDG syndrome type Is
CDG-Is
CDG1S
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type Is
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
Worldwide AND has_cases/families_value : 33.0 (Family(ies))
Autosomal recessive axonal neuropathy with neuromyotonia
Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
APLAID
A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
COXPD11
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.
Combined oxidative phosphorylation defect type 11
Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Cole disease
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles
A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.
Hypopigmentation-punctate palmoplantar keratoderma syndrome
PCH8
Pontocerebellar hypoplasia due to CHMP1A mutation
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Autosomal dominant intermediate CMT disease with neuropathic pain
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
FDFM
Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
Learman syndrome
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
Symphalangism with multiple anomalies of hands and feet
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
Classic MmD
Classic multiminicore disease
CMT2 due to KIF5A mutation
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.
Finland AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000
Greece AND has_annual_incidence_range : <1 / 1 000 000
Hungary AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.
GDS
Gardner-Diamond syndrome
Painful bruising syndrome
Psychogenic purpura
A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.
Invasive non-typhoidal salmonella disease
iNTS disease
Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.
ABeta amyloidosis, Piedmont type
ABetaL34V-related amyloidosis
HCHWA, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
ABetaD23N amyloidosis
HCHWA, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
ABetaE22K amyloidosis
HCHWA, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
ABeta amyloidosis, Flemish type
ABetaA21G-related amyloidosis
HCHWA, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
ABetaE22G amyloidosis
HCHWA, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.
Non-familial rare disease with dilated cardiomyopathy
Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.
A group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.
Mixed autoinflammatory and autoimmune syndrome
Pyogenic autoinflammatory syndrome of childhood
Granulomatous autoinflammatory syndrome of childhood
Unclassified autoinflammatory syndrome of childhood
Unexplained periodic fever syndrome of childhood
CNO/CRMO
Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Mouth and genital ulcers-inflamed cartilage syndrome
A rare autoinflammatory syndrome characterized by the presence of features of relapsing polychondritis and Behçet's disease in the same individual. This includes cartilage inflammation of the ears, nose, throat, and rib cage, as well as recurrent oral and genital ulcers, respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, central nervous system vasculitis, or, in rare cases, arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behçet's disease in the vast majority of cases.
ALDD syndrome
Autoinflammation-lipodystrophy-dermatosis syndrome
PRAAS
Proteasome disability syndrome
A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.
Proteasome-associated autoinflammatory syndrome
OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using SAPHO syndrome
OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
Dysprothrombinemia
Hypoprothrombinemia
Prothrombin deficiency
A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.
Symphalangism, Cushing type
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
LINC-HELLP
Long intergenic non-protein coding RNA associated with HELLP syndrome
46,XX DSD induced by fetoplacental androgens excess
46,XX disorder of sex development induced by fetoplacental androgens excess
46,XX difference of sex development induced by fetoplacental androgens excess
46,XX DSD induced by endogenous maternal-derived androgen
46,XX disorder of sex development induced by endogenous maternal-derived androgen
46,XX difference of sex development induced by endogenous maternal-derived androgen
46,XX DSD induced by exogenous maternal-derived androgen
46,XX disorder of sex development induced by exogenous maternal-derived androgen
46,XX difference of sex development induced by exogenous maternal-derived androgen
Syndrome with 46,XX DSD
Syndrome with 46,XX disorder of sex development
Syndrome with 46,XX difference of sex development
Bilateral anorchia
A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.
MRL3
uL3m
CRK like proto-oncogene, adaptor protein
RING finger protein 85
RNF85
EDA-A2R
EDAA2R
TNFRSF27
X-linked EDA receptor
XEDAR
Cleft lip/palate-syndactyly-pili torti syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Cleft lip/palate-ectodermal dysplasia syndrome
46,XY ovotesticular DSD
46,XY ovotesticular disorder of sex development
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.
Worldwide AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000
46,XY ovotesticular difference of sex development
46,XY DSD of endocrine origin
46,XY disorder of sex development of endocrine origin
46,XY difference of sex development of endocrine origin
46,XY DSD due to impaired androgen production
46,XY disorder of sex development due to impaired androgen production
46,XY difference of sex development due to impaired androgen production
46,XY DSD due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to LHB deficiency
Type 1 syndactyly-microcephaly-intellectual disability syndrome
Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
46,XY DSD due to a cholesterol synthesis defect
46,XY disorder of sex development due to a cholesterol synthesis defect
46,XY difference of sex development due to a cholesterol synthesis defect
Classic CLAH
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
46,XY DSD induced by maternal-exposure to endocrine disruptors
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors
46,XY difference of sex development induced by maternal exposure to endocrine disruptors
Sex chromosome DSD
Sex chromosome disorder of sex development
Sex chromosome difference of sex development
DSD of gynecological interest
Disorder of sex development of gynecological interest
Difference of sex development of gynecological interest
46,XY DSD of gynecological interest
46,XY disorder of sex development of gynecological interest
46,XY difference of sex development of gynecological interest
Syndrome with DSD of gynecological interest
Syndrome with disorder of sex development of gynecological interest
Syndrome with difference of sex development of gynecological interest
Genetic DSD of gynecological interest
Genetic disorder of sex development of gynecological interest
Genetic difference of sex development of gynecological interest
spastic paraplegia 41 (autosomal dominant)
spastic paraplegia 36 (autosomal dominant)
Genetic DSD
Genetic disorder of sex development
Genetic 46,XX DSD
Genetic 46,XX disorder of sex development
Genetic 46,XX difference of sex development
Genetic 46,XY DSD
Genetic 46,XY disorder of sex development
Genetic 46,XY difference of sex development
Genetic 46,XY DSD of endocrine origin
Genetic 46,XY disorder of sex development of endocrine origin
Genetic 46,XY difference of sex development of endocrine origin
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.
Syndactyly-polydactyly-ear lobe syndrome
Nav1.8
PN3
SNS
hPN3
peripheral nerve sodium channel 3
sensory neuron sodium channel
sodium voltage-gated channel alpha subunit 10
Owren disease
Parahemophilia
Proaccelerin deficiency
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.
cytochrome c oxidase assembly factor COX20
BDP
PP2C-type mitochondrial phosphoprotein phosphatase
PP2Ckappa
PP2Cm
branched-chain a-ketoacid dehydrogenase phosphatase
branched-chain alpha-ketoacid dehydrogenase phosphatase
branched-chain α-ketoacid dehydrogenase phosphatase
hPTMP
protein phosphatase 2C kappa
protein phosphatase, Mg2+/Mn2+ dependent 1K
IL-4-STAT
signal transducer and activator of transcription 6
EGR1 binding protein 2
MADER
ALPS
Canale-Smith syndrome
A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Syngnathia-multiple anomalies syndrome
A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.
Isolated congenital humeroradial fusion
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
HPH1
RAE28
Isolated congenital humero-radioulnar fusion
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic craniosynostosis
TCFEB
bHLHe35
PPP1R140
Polypyrimidine tract binding protein associated
protein phosphatase 1, regulatory subunit 140
splicing factor proline and glutamine rich
NMT55
NRB54
Nuclear RNA-binding protein, 54-kD
P54
P54NRB
PPP1R114
non-Pou domain-containing octamer (ATGCAAAT) binding protein
p54(NRB)
protein phosphatase 1, regulatory subunit 114
non-POU domain containing octamer binding
Giuffré-Tsukahara syndrome
Tsukahara syndrome
A rare syndrome with synostosis and limb malformations, characterized by radioulnar synostosis, short stature, microcephaly, scoliosis and intellectual disability. Majority of the patients also have clinodactyly (and sometimes brachymesophalangy) of the fifth fingers, syndactyly and brachydactyly of fingers. Joint laxity of the fingers and knees can also be present. Additional clinical features may include global developmental/psychomotor delay (notably speech delay), attention deficit, hyperactivity and variable dysmorphic features (including hypotelorism, prominent eyes and nose and dysmorphic ears).
Radioulnar synostosis-microcephaly-scoliosis syndrome
DAPK-interacting protein 1
DIP-1
KIAA1323
MIB
ZZANK2
ZZZ6
Isolated congenital radioulnar fusion
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
Congenital proconvertin deficiency
Hypoproconvertinemia
A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.
Europe AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000
Der Kaloustian-McIntosh-Silver syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Radioulnar synostosis-developmental delay-hypotonia syndrome
Buntinx-Lormans-Martin syndrome
Radio-ulnar synostosis-retinal pigment abnormalities syndrome
GPRC1A
MGLUR1
PPP1R85
mGlu1
protein phosphatase 1, regulatory subunit 85
CAMRQ2
PPP1R166
SORF-2
protein phosphatase 1, regulatory subunit 166
CA-RP
CA-VIII
CARP
ATPIB
KMT8D
Synovialosarcoma
A rare soft tissue sarcoma characterized by palpable, slow-growing, deep-seated swellings, with or without pain or tenderness, affecting mostly children and young adults. Patients may have pain or joint contractures that precede swelling. Contrary to its name, lesions do not originate from intra-articular synovium, but from primitive mesenchymal cells. Majority of the lesions arise in the extremities, predominantly in the lower extremity, however can also occur in the head and neck region, trunk, lungs and pleura. Metastasis to the lungs, bone and regional lymph nodes can be observed. Increasing size, age and tumor grade are reported as negative predictive factors for both local disease recurrence and metastasis.
RhoH
TTF
CACH3
CACN4
Cav1.3
calcium voltage-gated channel subunit alpha1 D
CLCNL2
XAP121
MDS031
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
TDRD13
YGL047W
tudor domain containing 13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
PKCI-1
histidine triad nucleotide binding protein 1
RMD1
required for meiotic nuclear division 1 homolog
CHMP1
KIAA0047
VPS46 homolog A (S. cerevisiae)
Vps46A
Autoinflammatory granulomatosis of childhood
Granulomatous inflammatory arthritis, dermatitis, and uveitis
Granulomatous synovitis-uveitis syndrome
PGA
Pediatric granulomatous arthritis
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Blau syndrome
AC5
Synspondylism
A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.
Nucleolysin TIA-1 isoform p40
T-cell-restricted intracellular antigen-1
TIA-1
nucleolysin TIA-1 isoform p40
TIA1 cytotoxic granule associated RNA binding protein
Congenital Stuart factor deficiency
Stuart-Prower factor deficiency
A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.
A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis).
Europe AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 1.94 AND has_point_prevalence_range : 1-9 / 100 000
New Zealand AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000
Chaotic atrial tachycardia
Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
OBSOLETE: Rare bone disease with limb hypoplasia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Syndrome with limb reduction defects
OBSOLETE: Rare bone disease with limb reduction defect
JET
Junctional ectopic tachycardia
His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.
OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome
Bidirectional ventricular tachycardia induced by catecholamine
CPVT
Malignant paroxysmal ventricular tachycardia
Polymorphic ventricular tachycardia induced by catecholamines
A rare severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.
Catecholaminergic polymorphic ventricular tachycardia
AD035
Bile acid beta-glucosidase
KIAA1605
Non-lysosomal glucosylceramidase
bile acid beta-glucosidase
glucocerebrosidase 2
non-lysosomal glucosylceramidase
KIAA0806
leucine rich repeats and immunoglobulin like domains 2
RALDH3
Retinaldehyde dehydrogenase 3
retinaldehyde dehydrogenase 3
aldehyde dehydrogenase 1 family member A3
NCKX4
Na/Ca-K exchanger 4
A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
Denmark AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_point_prevalence_average_value : 1.34 AND has_point_prevalence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Japan AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
Korea, Republic of AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
Korea, Republic of AND has_point_prevalence_average_value : 2.82 AND has_point_prevalence_range : 1-9 / 100 000
Kuwait AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000
Kuwait AND has_point_prevalence_average_value : 0.78 AND has_point_prevalence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_point_prevalence_average_value : 2.56 AND has_point_prevalence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000
Nesp4
Nesprin-4
spectrin repeat containing nuclear envelope family member 4
QCR2
UQCR2
ubiquinol-cytochrome c reductase core protein 2
MYOP
Sarcomeric protein myopalladin, 145 kDa
sarcomeric protein myopalladin, 145 kDa
GPIa
HPA-5
VLAA2
alpha 2 integrin
alpha 2 subunit of VLA-2 receptor
glycoprotein Ia
human platelet alloantigen 5
very late activation receptor subunit alpha-2
CPAMD7
HPA-15
human platelet antigen 15
NaN
Nav1.9
SNS-2
sodium voltage-gated channel alpha subunit 11
trnT
Hemophilia C
PTA deficiency
Plasma thromboplastin antecedent deficiency
Rosenthal factor deficiency
Rosenthal syndrome
A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG
A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Tall stature-scoliosis-macrodactyly of the halluces syndrome
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Tall stature-long halluces-multiple extra-epiphyses syndrome
Developmental delay with ASD and gait instability
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.
Developmental delay with autism spectrum disorder and gait instability
Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy
OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome
ADNIV
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.
Worldwide AND has_cases/families_value : 99.0 (Case(s))
Autosomal dominant neovascular inflammatory vitreoretinopathy
CSVT
A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.
Europe AND has_annual_incidence_range : 1-9 / 1 000 000
PACS1-related NDD
PACS1-related neurodevelopmental disorder
PACS1-related syndrome
A rare genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability, motor and speech delay, and characteristic craniofacial features. Other features might include hypotonia, seizures, feeding difficulties, autism spectrum disorder, and sleep disturbances. Congenital anomalies, including cardiac, ocular, cerebral, and genitourinary defects, may also be observed.
Microcephalic primordial dwarfism, Walsh type
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.
Microcephalic primordial dwarfism due to ZNF335 deficiency
IGSF1 deficiency syndrome
X-linked central congenital hypothyroidism with late-onset macroorchidism
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Congenital chronic diarrhea with exudative enteropathy
Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
Congenital chronic diarrhea with protein-losing enteropathy
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Dysostosis with predominant vertebral and costal involvement
OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculocerebrofacial syndrome, Kaufman type
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurodegeneration in adulthood
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Beta-propeller protein-associated neurodegeneration
A rare multiple congenital anomalies/dysmorphic syndrome characterized by telecanthus, hypertelorism, strabismus, and pes cavus. Facial dysmorphism may also include prominent forehead, epicanthal folds, a mobile soft tissue mass on tip of the nose, hypoplastic philtrum and vermillion border of the thin upper lip. Additional clinical features may include clinodactyly, camptodactyly, bilateral dorsiflexed toes, metatarsus adductus and hallux varus, bilateral posterior dislocation of the radial head, flared metaphyses of the long bones and osteopenia of tubular bones. Bilateral inguinal hernias and penile hypospadias without chordee may also be present. No neurologic signs or motor impairment have been reported. There have been no further descriptions in the literature since 1985.
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
PLA2G6-associated neurodegeneration
PLAN
FAHN
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
Fatty acid hydroxylase-associated neurodegeneration
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Familial thrombocytosis with transverse limb defect
Hereditary thrombocytosis with transverse limb defect
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Thrombocythemia with distal limb defects
Cutaneous hemangioma with muscle or bone atrophy
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Capillary-lymphatic-venous malformation with segmental distribution
A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.
Autosomal recessive frontotemporal pachygyria
Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Adult-onset CPEO with mitochondrial myopathy
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OBSOLETE: Limbic encephalitis with DPPX antibodies
OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies
OBSOLETE: Limbic encephalitis with DPP6 antibodies
Hapnes-Boman-Skeie syndrome
Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.
DA5D
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
DYT25
Dystonia 25
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.
Autosomal dominant focal dystonia, DYT25 type
Acute megakaryoblastic leukemia in children without trisomy 21
Non-DS-AMKL
Acute megakaryoblastic leukemia in children without Down syndrome
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Spastic paraplegia-Paget disease of bone syndrome
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
Adult-onset distal myopathy due to VCP mutation
LPG
A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
Tumor necrosis factor receptor 1 associated periodic syndrome
Dup(5)(p13)
Trisomy 5p13
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
Androgenetic/biparental mosaicism
Genome-wide paternal uniparental disomy mosaicism
Mosaic genome-wide paternal UPD
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.
Mosaic genome-wide paternal uniparental disomy syndrome
IGCM
A rare cardiac disease characterized by rapidly progressing myocarditis of unknown origin that may lead to progressive heart failure, heart block, ventricular arrhythmias, or sudden cardiac death. It is histologically characterized by myocardial necrosis and fibrosis with multinucleated giant cells and inflammatory cell infiltrate. Some patients have associated autoimmune disorders. It is a high-mortality risk condition and patients often require a heart transplant.
Hypertrophic gastropathy without hypoproteinemia
A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.
Non-hypoproteinemic hypertrophic gastropathy
JIIM
Juvenile idiopathic inflammatory myopathy
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.
A toxin-mediated infection due to the anaerobic bacteria Clostridium tetani and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.
Croatia AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Denmark AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Greece AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000
Hungary AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Romania AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Sweden AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Ig-mediated MPGN
Ig-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN
A primary form of membranoproliferative glomerulonephritis (MPGN) characterized by deposition in the renal glomeruli of immunoglobulin with complement fractions, especially C3. Clinical presentation may range from nephrotic syndrome and acute kidney injury to asymptomatic proteinuria and hematuria.
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Non-Ig-mediated MPGN
Non-Ig-mediated membranoproliferative glomerulonephritis
Non-immunoglobulin-mediated MPGN
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).
Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.
Transient neonatal MAD deficiency
Transient neonatal MADD
Transient neonatal glutaric acidemia type 2
Transient neonatal glutaric aciduria type 2
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.
Generalized juvenile polyposis/juvenile polyposis coli
Classic appendiceal neuroendocrine tumor
Classic appendix neuroendocrine tumor
A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.
Worldwide AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
Classic neuroendocrine tumor of appendix
Goblet cell adenocarcinoid
Goblet cell carcinoid
Goblet cell tumor
Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.
Worldwide AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-Hodgkin lymphoma
Isovaleric acid CoA dehydrogenase deficiency
A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.
Australia AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000
Germany AND has_birth_prevalence_average_value : 1.55 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000
Congenital Hageman factor deficiency
A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
ATTRwt amyloidosis
ATTRwt-related amyloidosis
Senile systemic amyloidosis
Wild type ATTR-related amyloidosis
A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).
Worldwide AND has_point_prevalence_average_value : 1.72 AND has_point_prevalence_range : 1-5 / 10 000
NON RARE IN EUROPE: Macular telangiectasia type 2
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Poliomyelitis
OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk
A rare autosomal dominant syndromic lymphedema characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
HAPE
A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.
Lead intoxication
Plumbism
Saturnism
Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.
France AND has_point_prevalence_average_value : 0.68 AND has_point_prevalence_range : 1-9 / 1 000 000
Hydrargyria
Mercurialism
Mercury intoxication
Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.
Hypotrichosis-hearing loss syndrome
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.
HbLepore-beta-thalassemia syndrome
Lepore-beta-thalassemia syndrome
A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.
Hemoglobin Lepore-beta-thalassemia syndrome
Autosomal dominant methemoglobinemia
M hemoglobinopathy
A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.
United Kingdom AND has_point_prevalence_average_value : 0.34 AND has_point_prevalence_range : 1-9 / 1 000 000
Familial polymorphous light eruption of American Indians
Hereditary polymorphous light eruption of American Indians
Hutchinson summer prurigo
Hydroa aestivale
A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.
Actinic reticuloid
Chronic photosensitivity dermatitis
Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.
United Kingdom AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000
PAPPA syndrome
PAPPAS
Zimmer phocomelia
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Tetraamelia-multiple malformations syndrome
OBSOLETE: Genetic MCA/variable MR
OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Genetic MCA
Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
IGCD1
IGDC1
INHBP
KIAA0364
PGSF2
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
China AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 39.7 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 29.3 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 13.8 AND has_birth_prevalence_range : 1-5 / 10 000
Hungary AND has_birth_prevalence_average_value : 34.3 AND has_birth_prevalence_range : 1-5 / 10 000
Ireland AND has_birth_prevalence_average_value : 14.5 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 26.8 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 63.0 AND has_birth_prevalence_range : 6-9 / 10 000
Ukraine AND has_birth_prevalence_average_value : 25.4 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 32.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 47.0 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 34.0 AND has_birth_prevalence_range : 1-5 / 10 000
PIG4
TP53I4
Bindewald-Ulmer-Müller syndrome
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
Fallot complex-intellectual disability-growth delay syndrome
Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.
Duplication/inversion 15q11
Inv dup (15) syndrome
Isodicentric chromosome 15 syndrome
Non-distal tetrasomy 15q
Non-telomeric tetrasomy 15q
idic (15) syndrome
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.
Worldwide AND has_birth_prevalence_average_value : 3.33 AND has_birth_prevalence_range : 1-9 / 100 000
Inverted duplicated chromosome 15 syndrome
beta-1,3-N-acetylgalactosaminyltransferase 2
A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
Metaphyseal chondrodysplasia, Jansen type
KIAA1088
NHL
RTEL
regulator of telomere elongation helicase 1
P2X2
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
Europe AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000
Isochromosome 18p
Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
HEB
HTF4
Helix-loop-helix transcription factor 4
bHLHb20
helix-loop-helix transcription factor 4
p64
CILD21
ADMCKD
ADMCKD1
CD227
Ca15-3
KL-6
MCKD
PEM
epithelial membrane antigen
ALG14 UDP-N-acetylglucosaminyltransferase subunit
SOSS-B2
SSB2
hSSB2
sensor of single-strand DNA complex subunit B2
single-stranded DNA-binding protein 2
D4Ertd89e
TRIC-B
DAGK6
DGK
T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster
TCRDV1
Isochromosome 5p
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).
TCL1
Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)
homeo box 11 (T-cell lymphoma 3-associated breakpoint)
RNX
Fibrin-stabilizing factor deficiency
A rare inherited bleeding disorder due to reduced coagulation factor XIII (FXIII) activity level and characterized by hemorrhagic diathesis, frequently associated with spontaneous abortions and defective wound healing. The disease may manifest at any age, but the most severe and life-threatening symptoms such as post-birth umbilical cord bleeding, cephalohematoma, and intracranial hemorrhage, manifest during the neonatal period.
Isochromosome 9p
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).
Autosomal recessive lethal multiple pterygium syndrome
LMPS
A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.
Worldwide AND has_cases/families_value : 28.0 (Family(ies))
OBSOLETE: Infantile symmetrical thalamic degeneration
Autosomal non-syndromic hypogammaglobulinemia
Non-syndromic agammaglobulinemia, non-Bruton type
A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
Autosomal non-syndromic agammaglobulinemia
A rare variant of mycosis fungoides (MF) characterized by the presence of circumscribed areas of pendulous lax skin.
SCN due to G6PC3 deficiency
SCN4
Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
Severe congenital neutropenia type 4
Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.
Worldwide AND has_cases/families_value : 57.0 (Case(s))
Severe congenital neutropenia due to G6PC3 deficiency
Syndrome with constitutional neutropenia as a major feature
Syndrome with genetic neutropenia as a major feature
Syndrome with congenital neutropenia as a major feature
Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.
Immunodeficiency due to ficolin3 deficiency
Other immunodeficiency syndromes due to defects in innate immunity
Fetal thalidomide syndrome
Thalidomide embryopathy is a group of anomalies present in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma. Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.
Worldwide AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000
T-B-NK+ SCID due to complete RAG1/2 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiency
Syndome with combined immunodeficiency due to thymic defect
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.
Susceptibility to infection due to TYK2 deficiency
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Selective immunoglobulin M deficiency
A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OBSOLETE: Other immunodeficiency syndrome with predominantly antibody defects
Genetic HLH with hypopigmentation
Genetic hemophagocytic lymphohistiocytosis with hypopigmentation
Primary HLH with hypopigmentation
Primary hemophagocytic lymphohistiocytosis with hypopigmentation
OBSOLETE: Thiele syndrome
OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome
Aseptic necrosis of phalangeal epiphyses
Osteochondrosis of phalangeal epiphyses
A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.
Potter sequence-cleft lip/palate-cardiopathy syndrome
Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.
HOIL1
RBCK2
RNF54
UBCE7IP3
XAP4
ZRANB4
heme-oxidized IRP2 ubiquitin ligase 1
RANBP2-type and C3HC4-type zinc finger containing 1
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
jdf2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
HTRA3
nCL-3
KIAA1175
phosphofurin acidic cluster sorting protein 1
Barnes syndrome
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
NIF-1
NRC-interacting factor 1
ARGP1
DGAT
JM5
WIPI4
neurodegeneration with brain iron accumulation 5
ETO2
MTG16
MTGR2
Myeloid translocation gene 8 and 16b
RUNX1T3
ZMYND4
myeloid translocation gene 8 and 16b
CBFA2/RUNX1 partner transcriptional co-repressor 3
Essential thrombocytosis
Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.
Europe AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 1.55 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 24.0 AND has_point_prevalence_range : 1-5 / 10 000
DRP1
DVLP
DYMPLE
HDYNIV
VPS1
ERV1
ERV1 homolog (S. cerevisiae)
FAD-linked sulfhydryl oxidase ALR
HERV1
HPO1
HPO2
hepatic regenerative stimulation substance
growth factor, augmenter of liver regeneration
C10
GRCC10
gene rich cluster C10 gene
CAMT
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
United Kingdom AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000
Congenital amegakaryocytic thrombocytopenia
HNRNPA2
HNRNPB1
heterogeneous nuclear ribonucleoprotein A2/B1
ALS20
hnRNP-A1
hnRNPA1
heterogeneous nuclear ribonucleoprotein A1
CWH43-N
Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)
FGF receptor activating protein 1
FRAG1
AER61
AER61 glycosyltransferase
EGF domain specific O-linked N-acetylglucosamine transferase
ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human
caseinolytic mitochondrial matrix peptidase proteolytic subunit
KIAA0028
LEURS
Leucine tRNA ligase 2, mitochondrial
leucine tRNA ligase 2, mitochondrial
mtLeuRS
potassium channel tetramerization domain containing 1
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
TAR syndrome
A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system.
B3GN-T1
BETA3GNTI
IGnT
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
iGAT
iGNT
iGnT
HsT748
HsT771
piezo type mechanosensitive ion channel component 2
Idiopathic excessive sleepiness
A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.
PE-2
PE2
BAF57
SWI/SNF related BAF chromatin remodeling complex subunit E1
MAP-2
Map19
mannose-binding lectin associated protein 19
mannose-binding lectin-associated serine protease 2
sMAP
FCNH
HAKA1
Hakata antigen
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
A rare indolent B-cell non-Hodgkin lymphoma, characterized by the infiltration of monoclonal lymphoplasmacytic cells in the bone marrow and the production of serum immunoglobulin M (IgM) monoclonal protein.
Europe AND has_annual_incidence_average_value : 0.81 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 2.05 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.55 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000
Thrombocytopenia-Robin sequence syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 21q22.11q22.12 microdeletion syndrome
A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.
APO3L
DR3LG
TNF12
TWEAK
TAG-1
TAX1
Classic HAT
Classic HIT
Classic heparin-associated thrombocytopenia
HITT
Heparin-induced-immune thrombocytopenia
A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.
Classic heparin-induced thrombocytopenia
This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.
Cutler-Bass-Romshe syndrome
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.
NON RARE IN EUROPE: NAFLD
NON RARE IN EUROPE: Non-alcoholic fatty liver disease
A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.
Austria AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.099 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 2.11 AND has_lifetime_prevalence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000
Iceland AND has_annual_incidence_average_value : 1.363 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 1.142 AND has_annual_incidence_range : 1-9 / 100 000
Latvia AND has_annual_incidence_average_value : 0.108 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.112 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.597 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.278 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.915 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.546 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.163 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.192 AND has_annual_incidence_range : 1-9 / 1 000 000
Holmes-Collins syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by absence/hypoplasia of tibia, postaxial polydactyly of the hands, pre and /or postaxial polydactyly of the feet and retrocerebellar arachnoid cyst. Bowing of the radius and ulna and syndactyly may also be present. Additional clinical features may include ventriculomegaly, cleft lip, diaphragmatic agenesis and malrotation of the colon. There have been no further descriptions in the literature since 1995.
Absent tibia-polydactyly-arachnoid cyst syndrome
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
A rare syndrome with limb reduction defects characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Clinical presentation is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.
KIAA0083
Acid ceramidase deficiency
Farber lipogranulomatosis
A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
LAMA3
BIMP3
CARMA1
bcl10-interacting maguk protein 3
card-maguk protein 1
caspase recruitment domain family member 11
OBSOLETE: Chitty-Hall-Webb syndrome
OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome
Jessner-Kanof lymphocytic infiltration of the skin
A rare chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.
Jessner lymphocytic infiltration of the skin
Hypoplastic tibia-polydactyly syndrome
Werner mesomelic syndrome
Hypoplastic tibiae-postaxial polydactyly syndrome
Spellacy-Gibbs-Watts syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rothmund-Thomson syndrome
Connective tissue dysplasia, Spellacy type
AK2 deficiency
De Vaal disease
SCID with sensorineural deafness
SCID with sensorineural hearing loss
Severe combined immunodeficiency with sensorineural deafness
Severe combined immunodeficiency with sensorineural hearing loss
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to ATP13A2-related juvenile neuronal ceroid lipofuscinosis
A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.
Europe AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_cases/families_value : 201.0 (Case(s))
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Aplasia cutis congenita-epibulbar dermoids syndrome
Toriello Lacassie Droste syndrome
A rare ectodermal dysplasia syndrome characterized by aplasia cutis congenita and epibulbar dermoids. Affected individuals present mostly with multiple, asymmetrically distributed, hairless, non scarring, atrophic, congenital scalp lesions and unilateral or bilateral epibulbar dermoids with or without other ocular anomalies (including strabismus, nystagmus, microcornea, and microphthalmia). Eyelid coloboma, acrochordons, linear/cutaneous hyperpigmentation, mostly following Blaschko lines, can also be present. Giant cell granulomas of the jaws and nonossifying fibromas of the long bones are commonly observed in individuals starting from 5 years old. Additional and variable clinical features including growth failure, neurodevelopmental delay, epilepsy, learning difficulties, behavioral abnormalities, lymphedema, macrocephaly, cardiovascular defects, facial asymmetry and mild dysmorphism were reported in some patients.
Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.
Childhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC
A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).
Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.
NON RARE IN EUROPE: Lichen sclerosus et atrophicus
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
ATS
A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
Worldwide AND has_cases/families_value : 102.0 (Case(s))
A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).
Anterior bowing of legs with dwarfism
Toxopachyosteose diaphysaire tibio-peroniere
WNS
Weismann-Netter-Stuhl syndrome
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.
Elejalde neuroectodermal melanolysosomal disease
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells.
Tracheal atresia
A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent.
Congenital tracheobronchomegaly
Idiopathic tracheobronchomegaly
Tracheobronchomegaly
A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Invasive meningococcal disease
Tracheopathia osteoplastica
A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.
Tracheobronchopathia osteochondroplastica
Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome
Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome
A group of rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be rarely combined (hypodysfibrinogenemia).
Neuhauser-Daly-Magnelli syndrome
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.
Tremor-nystagmus-duodenal ulcer syndrome
Kersey syndrome
A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.
TDO syndrome
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
Pinheiro-Freire Maia-Miranda syndrome
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
Trichodermodysplasia-dental alterations syndrome
OBSOLETE: Alves-dos Santos-Castelo syndrome
OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Arthrogryposis-ectodermal dysplasia syndrome
OBSOLETE: Tricho-oculo-dermo-vertebral syndrome
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.
OBSOLETE: Trueb-Burg-Bottani syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Ectodermal dysplasia syndrome
OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly
Oxoprolinuria due to oxoprolinase deficiency
A very heterogeneous condition characterized by 5-oxoprolinuria.
Gamma-glutamyl transferase deficiency
Glutathionuria
A disorder that is characterized by increased glutathione concentration in the plasma and urine.
Gamma-glutamyl transpeptidase deficiency
Gamma-glutamylcysteine synthetase deficiency
A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Idiopathic lobular panniculitis
Idiopathic nodular panniculitis
Pfeiffer-Weber-Christian syndrome
Relapsing febrile nodular nonsuppurative panniculitis
Relapsing febrile nodular panniculitis
WCD
Weber-Christian disease
Weber-Christian panniculitis
A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.
NON RARE IN EUROPE: Fibromuscular dysplasia of arteries
OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome
OBSOLETE: Trichodermal syndrome-intellectual disability syndrome
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
OBSOLETE: Goldstein-Hutt syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial isolated trichomegaly
OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome
Long eyelashes-intellectual disability syndrome
Oliver-McFarlane syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hunter-Rudd-Hoffmann syndrome
A rare syndromic craniosynostosis characterized by neonatal trigonocephaly with prominent metopic ridge/bregma, hypotelorism, shallow orbits, deviation of the digits, broad thumbs with duplication of the terminal phalanx and clinodactyly. Craniofacial dysmorphism may also include oxycephaly, facial asymmetry, epicanthic folds, ptosis, hooked nose with extended septum (the philtrum may be attached anteriorly on the septum), and a large mouth with a downturned upper lip. Nail and dermatoglyphic abnormalities have also been reported. There have been no further descriptions in the literature since 1976.
Isolated metopic craniosynostosis
Isolated trigonocephaly
Non-syndromic metopic suture synostosis
A form of nonsyndromic craniosynostosis characterized by the premature fusion of the metopic suture.
Europe AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 10.2979 AND has_point_prevalence_range : 1-5 / 10 000
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.
Trigonocephaly-bifid nose-acral anomalies syndrome
Say-Meyer syndrome
A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.
Trigonocephaly-short stature-developmental delay syndrome
FOP
Myositis ossificans progressiva
Stone man syndrome
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Europe AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000
France AND has_point_prevalence_average_value : 0.136 AND has_point_prevalence_range : 1-9 / 1 000 000
Spain AND has_birth_prevalence_average_value : 0.087 AND has_birth_prevalence_range : <1 / 1 000 000
Spain AND has_point_prevalence_average_value : 0.036 AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.061 AND has_point_prevalence_range : <1 / 1 000 000
United States AND has_point_prevalence_average_value : 0.085 AND has_point_prevalence_range : <1 / 1 000 000
Triophthalmia
Triopia
Unilateral diplophthalmia
Unilateral diplophthalmos
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate intellectual disability and epilepsy are typical.
47,XXX syndrome
Triplo-X syndrome
XXX syndrome
A rare sex-chromosome anomaly characterized by a variable phenotype, including various degree of global developmental delay, tall stature, epicanthal folds, hypotonia, and clinodactyly in association with seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF).
Europe AND has_point_prevalence_average_value : 42.5 AND has_point_prevalence_range : 1-5 / 10 000
Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.
Europe AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000
Distal arthrogryposis type 7
Dutch-Kentucky syndrome
Hecht syndrome
Hecht-Beals syndrome
A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.
Patau syndrome
A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.
Europe AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000
Japan AND has_point_prevalence_average_value : 15.9 AND has_point_prevalence_range : 1-5 / 10 000
Netherlands AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000
Ukraine AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000
Distal trisomy 17q
Telomeric duplication 17q
Trisomy 17qter
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Birt-Hogg-Dubé syndrome
Chromosome 18 duplication
Edwards syndrome
A rare chromosomal abnormality characterized by the presence of an extra chromosome 18 material and manifesting with severe intellectual disability growth delay, and extremely variable multiple congenital anomalies, including minor malformations (cranio-facial dysmorphia, short sternum, overlapping fingers) and major malformations, especially cardiac and cerebral. Neurological involvement may lead to seizures and hypotonia.
Belgium AND has_birth_prevalence_average_value : 8.9 AND has_birth_prevalence_range : 1-9 / 100 000
Denmark AND has_birth_prevalence_average_value : 38.8 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 10.4 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 4.4 AND has_birth_prevalence_range : 1-9 / 100 000
Ireland AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000
Japan AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_birth_prevalence_average_value : 11.2 AND has_birth_prevalence_range : 1-5 / 10 000
Poland AND has_birth_prevalence_average_value : 4.4 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000
Switzerland AND has_birth_prevalence_average_value : 24.6 AND has_birth_prevalence_range : 1-5 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 13.0 AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_birth_prevalence_average_value : 19.1 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 16.7 AND has_birth_prevalence_range : 1-5 / 10 000
An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
CAT
Common aorticopulmonary trunk
Common truncus arteriosus
Persistent truncus arteriosus
Truncus arteriosus
Truncus arteriosus communis
A rare congenital cardiac malformation characterized by a single arterial trunk arising from the heart, giving origin sequentially to the coronary arteries, one or more pulmonary arteries, and the systemic arterial circulation. Two forms exist: common arterial trunk (CAT) with aortic dominance (unobstructed aortic arch) and one or both pulmonary arteries originating from the trunk, and CAT with pulmonary dominance and interrupted aortic arch or coarctation.
Europe AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000
Hungary AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000
Ukraine AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 7.7 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000
Sleeping sickness
A rare parasitic disease characterized by infection with the protozoans Trypanosoma brucei rhodesiense (East African trypanosomiasis) or T. brucei gambiense (West African trypanosomiasis), usually due to the bite of an infected tsetse fly. The first, hemolymphatic stage presents with fever, headaches, fatigue, lymphadenopathy, and aching muscles and joints. In East African trypanosomiasis, the fly bite may develop into a red sore or chancre. This form then progresses to CNS invasion with somnolence and other neurologic and psychiatric symptoms within a few weeks, while West African trypanosomiasis slowly progresses within about 3 years. Both forms are fatal if left untreated.
Chagas disease
A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.
Belgium AND has_point_prevalence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_range : <1 / 1 000 000
Italy AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_range : <1 / 1 000 000
Portugal AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_point_prevalence_range : <1 / 1 000 000
United States AND has_point_prevalence_average_value : 95.0 AND has_point_prevalence_range : 6-9 / 10 000
Hairy throat syndrome
Tsukahara-Kajii syndrome
A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.
Isolated anterior cervical hypertrichosis
Austria AND has_birth_prevalence_average_value : 76.8 AND has_birth_prevalence_range : 6-9 / 10 000
Belgium AND has_birth_prevalence_average_value : 88.75 AND has_birth_prevalence_range : 6-9 / 10 000
Brazil AND has_birth_prevalence_average_value : 31.0 AND has_birth_prevalence_range : 1-5 / 10 000
China AND has_birth_prevalence_average_value : 1387.0 AND has_birth_prevalence_range : >1 / 1000
Croatia AND has_birth_prevalence_average_value : 47.9 AND has_birth_prevalence_range : 1-5 / 10 000
Czech Republic AND has_birth_prevalence_average_value : 74.7 AND has_birth_prevalence_range : 6-9 / 10 000
Denmark AND has_birth_prevalence_average_value : 109.6 AND has_birth_prevalence_range : >1 / 1000
Europe AND has_birth_prevalence_average_value : 91.05 AND has_birth_prevalence_range : 6-9 / 10 000
Finland AND has_birth_prevalence_average_value : 86.7 AND has_birth_prevalence_range : 6-9 / 10 000
France AND has_birth_prevalence_average_value : 120.2 AND has_birth_prevalence_range : >1 / 1000
Germany AND has_birth_prevalence_average_value : 138.25 AND has_birth_prevalence_range : >1 / 1000
Hungary AND has_birth_prevalence_average_value : 67.2 AND has_birth_prevalence_range : 6-9 / 10 000
Ireland AND has_birth_prevalence_average_value : 87.4 AND has_birth_prevalence_range : 6-9 / 10 000
Italy AND has_birth_prevalence_average_value : 54.65 AND has_birth_prevalence_range : 1-5 / 10 000
Malta AND has_birth_prevalence_average_value : 109.5 AND has_birth_prevalence_range : >1 / 1000
Netherlands AND has_birth_prevalence_average_value : 84.2 AND has_birth_prevalence_range : 6-9 / 10 000
Norway AND has_birth_prevalence_average_value : 92.7 AND has_birth_prevalence_range : 6-9 / 10 000
Poland AND has_birth_prevalence_average_value : 92.5 AND has_birth_prevalence_range : 6-9 / 10 000
Portugal AND has_birth_prevalence_average_value : 47.3 AND has_birth_prevalence_range : 1-5 / 10 000
Spain AND has_birth_prevalence_average_value : 98.5 AND has_birth_prevalence_range : 6-9 / 10 000
Switzerland AND has_birth_prevalence_average_value : 101.7 AND has_birth_prevalence_range : >1 / 1000
United Kingdom AND has_birth_prevalence_average_value : 115.5 AND has_birth_prevalence_range : >1 / 1000
United States AND has_birth_prevalence_average_value : 55.0 AND has_birth_prevalence_range : 6-9 / 10 000
Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.
Algeria AND has_annual_incidence_average_value : 90.0 AND has_annual_incidence_range : 6-9 / 10 000
Australia AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000
Austria AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000
Bosnia and Herzegovina AND has_annual_incidence_average_value : 49.0 AND has_annual_incidence_range : 1-5 / 10 000
China AND has_annual_incidence_average_value : 75.0 AND has_annual_incidence_range : 6-9 / 10 000
Croatia AND has_annual_incidence_average_value : 17.0 AND has_annual_incidence_range : 1-5 / 10 000
Czech Republic AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000
Denmark AND has_annual_incidence_average_value : 7.1 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_annual_incidence_average_value : 9.0 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000
Finland AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
Greece AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000
Hungary AND has_annual_incidence_average_value : 18.0 AND has_annual_incidence_range : 1-5 / 10 000
Iceland AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
India AND has_annual_incidence_average_value : 181.0 AND has_annual_incidence_range : >1 / 1000
Ireland AND has_annual_incidence_average_value : 10.7 AND has_annual_incidence_range : 1-5 / 10 000
Israel AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000
Japan AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000
Latin America AND has_annual_incidence_average_value : 47.0 AND has_annual_incidence_range : 1-5 / 10 000
Latvia AND has_annual_incidence_average_value : 42.0 AND has_annual_incidence_range : 1-5 / 10 000
Lithuania AND has_annual_incidence_average_value : 59.0 AND has_annual_incidence_range : 1-5 / 10 000
Netherlands AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 23.0 AND has_annual_incidence_range : 1-5 / 10 000
Portugal AND has_annual_incidence_average_value : 24.0 AND has_annual_incidence_range : 1-5 / 10 000
Romania AND has_annual_incidence_average_value : 101.0 AND has_annual_incidence_range : >1 / 1000
Russian Federation AND has_annual_incidence_average_value : 97.0 AND has_annual_incidence_range : 6-9 / 10 000
South Africa AND has_annual_incidence_average_value : 993.0 AND has_annual_incidence_range : >1 / 1000
Spain AND has_annual_incidence_average_value : 15.0 AND has_annual_incidence_range : 1-5 / 10 000
Sweden AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000
Turkey AND has_annual_incidence_average_value : 24.0 AND has_annual_incidence_range : 1-5 / 10 000
Ukraine AND has_annual_incidence_average_value : 89.0 AND has_annual_incidence_range : 6-9 / 10 000
United Kingdom AND has_annual_incidence_average_value : 14.0 AND has_annual_incidence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 3.4 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 139.0 AND has_annual_incidence_range : >1 / 1000
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kearns-Sayre syndrome
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
Ectodermal dysplasia-adrenal cyst syndrome
Tuffli-Laxova syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Scalp-ear-nipple syndrome
Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome
A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.
Austria AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 1.27 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 9.1 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Hungary AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.145 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 1.83 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000
Sweden AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
Malignant mesenchymal tumor
Malignant soft tissue tumor
Soft part sarcoma
Europe AND has_annual_incidence_average_value : 4.74 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 3.6 AND has_annual_incidence_range : 1-9 / 100 000
TEN
Thymic epithelial tumor
Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma.
United States AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000
Hyperpipecolatemia
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Peroxisome biogenesis disorder
Hantavirosis
Hantavirus fever
A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.
Austria AND has_annual_incidence_average_value : 0.92 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.78 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 1.36 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000
Finland AND has_annual_incidence_average_value : 29.16 AND has_annual_incidence_range : 1-5 / 10 000
France AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 1.16 AND has_annual_incidence_range : 1-9 / 100 000
Hungary AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000
Luxembourg AND has_annual_incidence_average_value : 1.44 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000
Romania AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 2.32 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_annual_incidence_average_value : 2.52 AND has_annual_incidence_range : 1-9 / 100 000
A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.
Transient tyrosinemia of the neonate
A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.
Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.
Renal dysplasia-limb defects syndrome
Renal dysplasia-mesomelia-radiohumeral fusion syndrome
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.
Umbilical cord ulceration-intestinal atresia syndrome
Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.
Hip dysplasia-enchondromata-ecchondroma syndrome
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.
Intellectual disability-short stature-hand contractures-genital anomalies syndrome
Prader-Willi habitus-osteopenia-camptodactyly syndrome
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
A rare group of infectious disease characterized by malaise, fever, exhaustion, vascular permeability, decreased plasma volume, coagulation abnormalities and varying degrees of hemorrhage. Severity of hemorrage is affected by a variety of contributing factors (depending on the pathogen and the host, whether it is primary infection or reinfection) and severly ill patients often show signs of bleeding under skin, in internal organs and in orifices. They may develop circulatory collapse, multisystem organ failure, shock, nervous system malfunction, coma, delirium, and seizures. A variety of rashes and ocular manifestations can also be associated with the diseases. They are caused by several different families of RNA viruses, including members of arenaviruses, bunyaviruses, filoviruses and flaviviruses that are capable of causing high morbidity and mortality.
Double uterus and obstructed hemivagina syndrome
HWW syndrome
Herlyn-Werner-Wunderlich syndrome
OHVIRA syndrome
Obstructed hemivagina and ipsilateral renal anomaly
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.
Double uterus-hemivagina-renal agenesis syndrome
Sujansky-Leonard syndrome
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals.
Berger disease
IgA nephropathy
A rare glomerular disease, histologically characterized by glomerular mesangial deposits of IgA, often accompanied by IgG and complement C3 as well as mesangioproliferative changes, clinically mostly manifesting as oligosymptomatic glomerulonephritis, possibly infection-triggered macrohematuria and a variable course ranging from spontaneous remission to slow or rarely rapid progression to kidney failure.
ADTKD
Familial juvenile hyperuricemic nephropathy
Medullary cystic kidney disease
A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).
Worldwide AND has_cases/families_value : 121.0 (Family(ies))
Autosomal dominant tubulointerstitial kidney disease
Hyperphosphatasemia tarda
Van Buchem disease
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome
Benign paroxysmal peritonitis
Benign recurrent polyserositis
Familial paroxysmal polyserositis
Periodic disease
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
Armenia AND has_point_prevalence_average_value : 200.0 AND has_point_prevalence_range : >1 / 1000
Japan AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000
Specific population AND has_annual_incidence_average_value : 14.0 AND has_annual_incidence_range : 1-5 / 10 000
Sweden AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
Turkey AND has_point_prevalence_average_value : 175.0 AND has_point_prevalence_range : >1 / 1000
CRV
Grand-Kaine-Fulling syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
KWWH type I
Keratoderma with woolly hair type I
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Naxos syndrome
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma.
Hypogonadism-gynecomastia-X-linked intellectual disability syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xq27.3q28 duplication syndrome
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
DORV
A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.
Germany AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
DOLV
Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.
Worldwide AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
Cleft lip-limb and heart malformations syndrome
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.
Hyperimmunoglobulinemia D with periodic fever
Viljoen-Kallis-Voges syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Microcephaly-brachydactyly-kyphoscoliosis syndrome
MCOPS8
Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
Syndromic microphthalmia type 8
Viljoen-Smart syndrome
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
Uveomenigitic syndrome
A rare bilateral granulomatous panuveitis characterized by an acute phase with serous retinal detachments associated with neurological (meningitis) and auditory alterations which, in case of delayed (>3-4 weeks) or insufficient treatment, evolves into a chronic phase with chronic anterior uveitis and retinal atrophic lesions (Dalen-Fuchs nodules and sunset glow fundus) associated with dermatological alterations. The disease is marked by increased choroidal inflammatory activity.
Cholestatic jaundice-renal tubular insufficiency syndrome
Lutz-Richner-Landolt syndrome
Biliary tract malformation-renal failure syndrome
DK phocomelia syndrome
Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare viral disease
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).
Europe AND has_birth_prevalence_average_value : 0.37 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 1.74 AND has_point_prevalence_range : 1-9 / 100 000
NON RARE IN EUROPE: Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome
Pulmonic stenosis with 'café-au-lait' spots
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PRC-2 complex-related overgrowth spectrum
EZH2-related overgrowth syndrome
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by pre- and post-natal overgrowth, facial dysmorphism (including hypertelorism, large fleshy ears and retrognathia with the appearance of a 'stuck-on' chin with associated horizontal skin crease) that is easily recognizable in early childhood. Majority of the patients present with mild intellectual disability. Additional variable features include macrocephaly, joint laxity, scoliosis, pectus excavatum, hypo- and/or hypertonia, poor coordination, soft dough skin, clinodactyly, camptodactyly of the fingers and/or toes, umbilical hernia, and a low hoarse cry in infancy. Many clinical features, including facial dysmorphism, attenuate with age. Patients may also have a higher risk of neuroblastoma.
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.
A rare connective tissue disorder characterized by acromelic short stature, joint stiffness, stiff and thick skin, and characteristic eye abnormalities including microspherophakia, ectopia lentis, severe myopia, and glaucoma.
Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.
Pierre Robin sequence-fetal chondrodysplasia syndrome
Pierre Robin syndrome-fetal chondrodysplasia syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant otospondylomegaepiphyseal dysplasia
Intellectual disability-hysarrhytmia syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Infantile epileptic spasms syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2G
LGMD due to telethonin deficiency
LGMD type 2G
LGMD2G
Limb-girdle muscular dystrophy due to telethonin deficiency
Limb-girdle muscular dystrophy type 2G
Telethonin-related LGMD R7
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Telethonin-related limb-girdle muscular dystrophy R7
Autosomal recessive limb-girdle muscular dystrophy type 2I
FKRP-related LGMD R9
LGMD due to FKRP deficiency
LGMD type 2I
Limb-girdle muscular dystrophy due to FKRP deficiency
Limb-girdle muscular dystrophy type 2I
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.
Norway AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 0.43 AND has_point_prevalence_range : 1-9 / 1 000 000
FKRP-related limb-girdle muscular dystrophy R9
Autosomal dominant limb-girdle muscular dystrophy type 1D
DNAJB6-related LGMD D1
LGMD type 1D
LGMD1D
Limb-girdle muscular dystrophy type 1D
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.
DNAJB6-related limb-girdle muscular dystrophy D1
LGMD1E
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1E
Intestinal lipodystrophy
A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).
United States AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000
Congenital muscular dystrophy with ITGA7 deficiency
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
Congenital muscular dystrophy with integrin alpha-7 deficiency
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary myopathy with early respiratory failure
Distal myopathy with early respiratory muscle involvement
OBSOLETE: Genetic primary hypomagnesemia
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare renal tubular disease
OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia
HOMG2
Isolated autosomal dominant hypomagnesemia
Isolated renal magnesium wasting
Renal hypomagnesemia type 2
A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Autosomal dominant primary hypomagnesemia with hypocalciuria
APECED syndrome
APS type 1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
Finland AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
A heterogeneous group of bilateral, genetically determined, non-inflammatory eye diseases that are usually restricted to the cornea. The designation is imprecise but remains in use because of its clinical value.
United States AND has_point_prevalence_average_value : 110.0 AND has_point_prevalence_range : >1 / 1000
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
Neonatal progeroid syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.
Cervicooculoacoustic syndrome
Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.
GSD due to LAMP-2 deficiency
GSD, type 2B
GSD, type IIb
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease, type 2B
Glycogen storage disease, type IIb
Glycogenosis due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).
Sweden AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Bare lymphocyte syndrome type 1
MHC class I deficiency
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.
Immunodeficiency by defective expression of MHC class I
A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
Europe AND has_point_prevalence_average_value : 0.62 AND has_point_prevalence_range : 1-9 / 1 000 000
India AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000
Specific population AND has_point_prevalence_average_value : 1.83 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000
Diabetes-hypogonadism-deafness-intellectual disability syndrome
Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Worldwide AND has_cases/families_value : 25.0 (Family(ies))
Congenital suprabulbar paresis
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.
Classic xanthinuria
Xanthic urolithiasis
Xanthine stone disease
A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Europe AND has_annual_incidence_average_value : 9.05 AND has_annual_incidence_range : 1-9 / 100 000
Garcia-Lurie syndrome
XK syndrome
XK-aprosencephaly
A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.
Azoospermia-sinopulmonary infections syndrome
Sinusitis-infertility syndrome
A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause.
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Italy AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000
Alpha-L-fucosidase deficiency
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities.
Cuba AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_cases/families_value : 161.0 (Case(s))
Worldwide AND has_point_prevalence_average_value : 0.06 AND has_point_prevalence_range : <1 / 1 000 000
Ketotic hyperglycinemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
Canada AND has_birth_prevalence_average_value : 100.0 AND has_birth_prevalence_range : >1 / 1000
Germany AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000
Korea, Republic of AND has_birth_prevalence_average_value : 1.23 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000
NON RARE IN EUROPE: Fish-odor syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare viral disease
OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes
Severe disseminated CMV infection in immunocompetent patients
A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.
Severe disseminated cytomegalovirus infection in immunocompetent patients
Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.
OBSOLETE: Lethal idiopathic viral infection
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare bacterial infectious disease
OBSOLETE: Idiopathic severe pneumococcemia
NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidiasis
NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis
INAD
Infantile PLAN
Infantile neuroaxonal dystrophy
Infantile phospholipase A2-associated neurodegeneration
PLA2G6-associated neurodegeneration, infantile-onset
Seitelberger disease
A rare neurodegeneration with brain iron accumulation (NBIA) disorder characterized by global developmental delay and eventual regression, increasing neurological involvement with symmetrical spastic tetraplegia, loss of cognitive and bulbar function, seizures and optic atrophy. The infantile form of PLAN, which has onset before three years of age, is most common relative to juvenile-onset and adult-onset forms, and individuals may present with symptoms anywhere along a continuum.
PLA2G6-related neurodegeneration, infantile-onset
T-B+NK- SCID due to JAK3 deficiency
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
T-B+NK- severe combined immunodeficiency due to JAK3 deficiency
Isolated sagittal craniosynostosis
Isolated scaphocephaly
Non-syndromic sagittal suture synostosis
A form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.
Australia AND has_birth_prevalence_average_value : 20.7 AND has_birth_prevalence_range : 1-5 / 10 000
Australia AND has_point_prevalence_average_value : 20.7 AND has_point_prevalence_range : 1-5 / 10 000
OBSOLETE: Non-syndromic unicoronal synostosis
OBSOLETE: Synostotic plagiocephaly
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic unisutural craniosynostosis
Isolated bicoronal craniosynostosis
Isolated synostotic brachycephaly
Non-syndromic bilateral coronal suture synostosis
A form of nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Non-syndromic bicoronal craniosynostosis
Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
P5N deficiency
UMPH1 deficiency
Uridine 5'-monophosphate hydrolase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1970.
CSID
Congenital sucrose intolerance
Disaccharide intolerance
A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.
Congenital sucrase-isomaltase deficiency
OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10
OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
OBSOLETE: HSD deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Epidermal hamartoma syndrome
Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.
CDPX2
CDPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
Europe AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000
X-linked dominant chondrodysplasia punctata
A group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a wide range of variable manifestations.
Europe AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000
GRB1
PI3 kinase-associated p85
growth factor receptor bound 1
p85-ALPHA
p85alpha
phosphoinositide-3-kinase regulatory subunit alpha
phosphoinositide-3-kinase regulatory subunit 1
KIAA0691
LENG2
NOT3 (negative regulator of transcription 3, yeast) homolog
NOT3H
CCR4-NOT transcription complex subunit 3
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Genetic neurological muscular channelopathy
OBSOLETE: Genetic muscular channelopathy
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome
3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.
Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
ELOVL4-related neuro ichthyosis
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Autosomal recessive spinocerebellar ataxia type 14
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
SCAR14
SPARCA
SPARCA1
Spectrin-associated autosomal recessive cerebellar ataxia type 1
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
Spectrin-associated autosomal recessive cerebellar ataxia
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
mtDNA maintenance syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.
DNA2-related mitochondrial DNA deletion syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2U
ISPD-related LGMD R20
LGMD type 2U
LGMD2U
Limb-girdle muscular dystrophy type 2U
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.
ISPD-related limb-girdle muscular dystrophy R20
OBSOLETE: Autosomal recessive LGMD with cerebellar involvement
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using ISPD-related limb-girdle muscular dystrophy R20
OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MEND syndrome
Digital anomalies-intellectual disability-short stature syndrome
ASD due to AUTS2 deficiency
AUTS2 syndrome
A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.
Autism spectrum disorder due to AUTS2 deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Atypical juvenile parkinsonism
OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency
OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism
OBSOLETE: Levodopa-unresponsive juvenile parkinsonism
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Oncogenic hypophosphatemic osteomalacia
TIO
Tumor-induced osteomalacia
A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.
Europe AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000
methylated-DNA--protein-cysteine methyltransferase
COXPD16
Combined oxidative phosphorylation defect type 16
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.
FIME
Familial infantile myoclonus epilepsy
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Myoclonic epilepsy of infancy
Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
PMED
Progressive myoclonus epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
Progressive myoclonic epilepsy with dystonia
phosphorylase kinase catalytic subunit gamma 1
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Male infertility with teratozoospermia due to single gene mutation
Monosomy 16q24.1
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).
Phalangeal osteolysis
A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.
Autosomal recessive cerebellar ataxia with late-onset spasticity
SGK196
SgK196
A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Brain dopamine-serotonin vesicular transport disease
Spastic paraplegia type 79
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
HBID
Hereditary benign corneal intraepithelial dyskeratosis
A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.
Hereditary benign intraepithelial dyskeratosis
A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
9q21.3 microdeletion syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
CMTDIF
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
CMT6X
CMTX6
A type of rare X-linked Charcot-Marie-Tooth disease characterized by slowly progressive, principally axonal, peripheral sensorimotor neuropathy. Patients present with distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus and clawed toes), absent ankle reflexes, gait abnormalities (steppage gait, decreased hand grip strength and dexterity with variable severity. Males are typically more severely affected than carrier females (some reported to remain asymptomatic) and usually present with an earlier age of onset (within the first 13 years of life).
X-linked Charcot-Marie-Tooth disease type 6
Cobblestone lissencephaly without muscular or eye involvement
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.
Cobblestone lissencephaly without muscular or ocular involvement
Lissencephaly type 2 with muscular and ocular involvement
MDDGA
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OBSOLETE: Lissencephaly type 2A
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OBSOLETE: Cobblestone lissencephaly type A
OBSOLETE: Lissencephaly type 2C
OBSOLETE: Cobblestone lissencephaly type C
OBSOLETE: Lissencephaly type 2B
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OBSOLETE: Cobblestone lissencephaly type B
Kufs disease type B
NCL13
Neuronal ceroid lipofuscinosis type 13
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (11-65 years with the mean of 34 years) epilepsy, cognitive impairment, dementia with behavioral, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.
FILS syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.
Progressive retinal dystrophy due to retinol transport defect
Atypical Chédiak-Higashi syndrome
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
MP OCA type 1
OCA1-MP
An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
Minimal pigment oculocutaneous albinism type 1
OCA1-TS
TS OCA type 1
An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.
Temperature-sensitive oculocutaneous albinism type 1
Ocular albinism with congenital sensorineural hearing loss
Waardenburg syndrome type 2 with ocular albinism
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg syndrome type 2
Ocular albinism with congenital sensorineural deafness
OCA7
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.
Buschke scleredema
A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD due to gamma-sarcoglycan deficiency
LGMD type 2C
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2C
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Japan AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
ATR
Anthrax toxin receptor
TEM8
Tumor endothelial marker 8 precursor
anthrax toxin receptor
tumor endothelial marker 8 precursor
AGC1 deficiency
Mitochondrial aspartate-glutamate carrier 1 deficiency
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Epileptic encephalopathy with global cerebral demyelination
FPLCA
A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).
Familial primary localized cutaneous amyloidosis
NON RARE IN EUROPE: POAG
NON RARE IN EUROPE: Primary adult open-angle glaucoma
ARHGAP48
KIAA0914
family with sequence similarity 13 member A
ATPIH
ATPIS
KIAA1021
Phospholipid-translocating ATPase
Potential phospholipid-transporting ATPase IH
phospholipid-translocating ATPase
phospholipid-transporting ATPase IH
BMS
Oral dysesthesia
Orodynia
Stomatodynia
Stomatopyrosis
A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
Pyruvate carboxylase deficiency type A
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency type B
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency type C
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
Pyruvate carboxylase deficiency, benign type
Congenital myasthenic syndrome with glycosylation defect
hPot1
Congenital arteriovenous anastomoses of the retina
Congenital arteriovenous communication of the retina
Congenital retinal arteriovenous anastomoses
A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.
Congenital retinal arteriovenous communication
Aneurysmal telangiectasia
Visible and exudative idiopathic juxtafoveolar retinal telangiectasis
Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.
Idiopathic macular telangiectasia type 1
Occlusive idiopathic juxtafoveolar retinal telangiectasis
Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.
Idiopathic macular telangiectasia type 3
Retinal vasoproliferative tumor
VPTR
Vasoproliferative tumor of the ocular fundus
Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.
AMSH
DEP.5
KIAA0645
DEP domain containing 5, GATOR1 subcomplex subunit
KIAA1140
G-ALPHA-q
GAQ
EAAC1
EAAT3
Excitatory amino acid transporter 3
excitatory amino acid carrier 1
hEAAC1
ATP5A
OMR
ORM
hATP1
BANK
B cell scaffold protein with ankyrin repeats 1
HCA127
IL-17RD
IL17RLM
SEF
similar expression to fgf genes
FGF-13
MKP-3
PYST1
fibronectin leucine rich transmembrane protein 3
ARMD10
CD284
TLR-4
hToll
CaCC2
Beta-galactosidase-1 deficiency
GLB1 deficiency
Landing disease
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Brazil AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000
Malta AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000
Sweden AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000
CDA017
oculocutaneous albinism 7, autosomal recessive
leucine rich melanocyte differentiation associated
MGC2793
DDK1
mitochondrial genome maintenance exonuclease 1
Acid beta-glucosidase deficiency
Glucocerebrosidase deficiency
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
Australia AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
Austria AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000
China AND has_point_prevalence_average_value : 0.224 AND has_point_prevalence_range : 1-9 / 1 000 000
Czech Republic AND has_birth_prevalence_average_value : 1.13 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 0.74 AND has_point_prevalence_range : 1-9 / 1 000 000
Hungary AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 0.67 AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 2.11 AND has_birth_prevalence_range : 1-9 / 100 000
Turkey AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000
CD122
Subacute spongiform encephalopathy, Gerstmann-Straussler type
A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.
Worldwide AND has_annual_incidence_average_value : 0.0055 AND has_annual_incidence_range : <1 / 1 000 000
RHOGDI
Nanophthalmia
Nanophthalmos
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
Isolated complete colobomatous microphthalmia
KIAA0473
PARK19
auxilin
DnaJ heat shock protein family (Hsp40) member C6
39S ribosomal protein L44, mitochondrial
mL44
NOS1
SVAT
SVMT
Synaptic vesicular amine transporter
VAT2
Guanine nucleotide-binding protein subunit beta-4
transducin beta chain 4
CATSF
CLN13
DNA polymerase epsilon catalytic subunit A
POLE1
DNA polymerase epsilon, catalytic subunit
AGC1
Aralar
Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial
aralar1
aspartate/glutamate carrier 1
CoQ10 deficiency
Primary coenzyme Q10 deficiency
Primary ubiquinone deficiency
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Neurocutaneous syndrome, Bicknell type
P5CS deficiency
A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.
CD27 antigen
T-cell activation antigen S152
Tp55
Geographic helicoid peripapillary choroidopathy
A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.
Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.
beta-1,3-galactosyltransferase-6
beta3GalT6
Del(3)(q26q27)
Monosomy 3q26q27
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3q26q28 deletion syndrome
COXPD
Combined OXPHOS defect
Combined OXPHOS deficiency
Combined oxidative phosphorylation defect
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
mtDNA depletion syndrome
A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Specific population AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000
A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.
ANK3-related intellectual disability-sleep disturbance syndrome
NON RARE IN EUROPE: Familial cholemia
NON RARE IN EUROPE: Hyperbilirubinemia type 1
Monosomy 19p13.13
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
HUS with DGKE deficiency
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.
Hemolytic uremic syndrome with DGKE deficiency
HMG-CoA synthase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
FUT12
GDP-fucose protein O-fucosyltransferase 1
KIAA0180
O-FUT
O-Fuc-T
Peptide-O-fucosyltransferase
peptide-O-fucosyltransferase
Europe AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000
AGAT deficiency
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
L-Arginine:glycine amidinotransferase deficiency
ALS4
Distal hereditary motor neuropathy with upper motor neuron signs
dHMN with upper motor neuron signs
A rare genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.
Serine deficiency
Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.
Neurometabolic disorder due to serine deficiency
KIAA1895
ARCL2A
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.
Glutaric aciduria type 3
Glutaryl-CoA oxidase deficiency
A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.
ARCL2, progeroid type
ARCL2B
Autosomal recessive cutis laxa type 2, progeroid type
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
Autosomal recessive cutis laxa type 2, classic type
AADC deficiency
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).
Worldwide AND has_cases/families_value : 140.0 (Case(s))
Aromatic L-amino acid decarboxylase deficiency
CGGM
Congenital glucose-galactose malabsorption
GGM
SGLT1 deficiency
A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period.
France AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000
ATOS
Arterial TOS
Arterial cervical rib syndrome
Arterial costoclavicular syndrome
Arterial hyperabduction syndrome
Arterial scalenus anticus syndrome
Arterial thoracic outlet compression syndrome
A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.
Effort subclavian vein thrombosis
Paget-Schrotter disease
VTOS
Venous TOS
Venous cervical rib syndrome
Venous costoclavicular syndrome
Venous hyperabduction syndrome
Venous scalenus anticus syndrome
Venous thoracic outlet compression syndrome
Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.
OSMF
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
TRIAD3
UBCE7IP1
ZIN
Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.
A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).
Primary non-essential cutis verticis gyrata
37LRP
LRP
uS2
CID due to CARD11 deficiency
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency
A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.
Combined immunodeficiency due to CARD11 deficiency
CID due to IL21R deficiency
Combined immunodeficiency due to interleukin 21 receptor deficiency
A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.
Combined immunodeficiency due to IL21R deficiency
Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome
Wahab syndrome
A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Ectasic coloboma
Morning glory syndrome
A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.
CD360
CARS1
Cysteine tRNA ligase 1, cytoplasmic
cysteine tRNA ligase 1, cytoplasmic
A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.
Genetic non-syndromic renal or urinary tract malformation
PR/SET domain 17
PRDM17
MKLP-1
MKLP1
KIAA0187
WINS1
A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
MOGCT
Malignant ovarian germ cell tumor
Ovarian germ cell cancer
Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.
Austria AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.093 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.157 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 2.3 AND has_lifetime_prevalence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 0.062 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.085 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.081 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.095 AND has_annual_incidence_range : <1 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.126 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.061 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.064 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.064 AND has_annual_incidence_range : <1 / 1 000 000
Malignant ovarian SCST
Malignant ovarian sex cord-stromal tumor
Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.
Austria AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.102 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.367 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.152 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.314 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.296 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000
Finland AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.069 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.401 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.236 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.094 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.093 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.232 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.212 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.073 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000
Malignant sex cord stromal tumor of ovary
STMP3
TSAP6
dudlin-2
ferrireductase
CD11b
HNA-4
complement component 3 receptor 3 subunit
human neutrophil antigen 4
macrophage-1 antigen alpha subunit
UDP-Gal-Tr
UDP-galactose translocator
UGAT
UGT
UGT1
UGT2
UGTL
CIC
CTP
Tricarboxylate transport protein, mitochondrial
citrate isocitrate carrier
citrate transport protein
ankyrin-3, node of Ranvier
ankyrin-G
NEM8
SRYP
Sarcosynapsin
nemaline myopathy type 8
sarcosynapsin
GD2 synthase, GM2 synthase
beta1-4GalNAc-T
beta-1,4-N-acetyl-galactosaminyltransferase 1
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
Norway AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
KIAA1675
KMT8F
MDS1/EVI1-like
MEL1
PFM13
PR-domain zinc finger protein 16
Transcription factor MEL1
transcription factor MEL1
GTP-binding protein Roc1
RIBB
ROC1
Ric-like, expressed in many tissues
CD156C
CD156c
MADM
kuz
DS-Epi1
DSEPI
AF10
MLLT10 histone lysine methyltransferase DOT1L cofactor
Heterogeneous nuclear ribonucleoprotein H
hnRNPH
heterogeneous nuclear ribonucleoprotein H1
CAP-Rf
DBX
DDX14
HLP2
Helicase-like protein 2
HI/HA syndrome
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.
A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.
Hereditary glaucoma
A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
Pediatric-onset glaucoma of genetic origin
FV and FVIII combined deficiency
A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
Iran, Islamic Republic of AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Combined deficiency of factor V and factor VIII
A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.
ACS
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.
GBM
Glioblastoma multiforme
Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).
Croatia AND has_annual_incidence_average_value : 4.2 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 2.52 AND has_annual_incidence_range : 1-9 / 100 000
Greece AND has_annual_incidence_average_value : 3.7 AND has_annual_incidence_range : 1-9 / 100 000
Specific population AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000
KIAA1512
MHC14
MYH14
lncMYH7b
FBH
FBH2
FHH2
RNF63
ZFP127
zinc finger protein 127
MAD7
MXD7
bHLHd13
CILD23
gudu
outer dynein arm docking complex subunit 2
CILD25
EKN1
dynein, axonemal, assembly factor 4
pf23
CILD24
RSP44
RSPH10A
meichroacidin
BLU
CILD22
Ciliary dyskinesia, primary, 22
DNAAF7
dynein axonemal assembly factor 7
tumor suppressor BLU
FBXW1A
Fwd1
bTrCP
bTrCP1
beta-TrCP1
betaTrCP
beta-transducin repeat containing E3 ubiquitin protein ligase
K2p3.1
TASK
TASK-1
TASK1
TWIK-related acid-sensitive K+ 1
potassium two pore domain channel subfamily K member 3
Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.
Ireland AND has_point_prevalence_average_value : 0.4953 AND has_point_prevalence_range : 1-9 / 1 000 000
CHN
CSMF
MINOR
NOR1
nuclear receptor subfamily 4 group A member 3
Npl3
RBP56
hTAFII68
TATA-box binding protein associated factor 15
KIAA1851
mannose-1-phosphate guanyltransferase beta
chromodomain helicase DNA binding protein 2
sodium voltage-gated channel beta subunit 2
NPHP16
ankyrin repeat and sterile alpha motif domain containing 6
NON RARE IN EUROPE: Favism
NON RARE IN EUROPE: G6PD deficiency
NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency
Bacterial TSS
Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS or Streptococcus pyogenes in streptococcal TSS.
A rare bacterial infectious disease characterized by staphylococcal epidermolytic toxin-mediated scarlatiniform exanthema accentuated in the flexural areas, as well as fever and affection of the general condition. The exanthema progresses to desquamation in large flaps, while blistering is not observed. Enanthema, strawberry tongue or palatal petechiae are absent. The condition has mainly been reported in children and young adults.
Generalized exfoliative disease
SSSS
A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.
Germany AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.
Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.
major histocompatibility complex, class II, DP beta 1
Thromboangiitis obliterans
A rare systemic disease characterized by inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease with thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.
Worldwide AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000
Borrmann gastric cancer type 4
Linitis plastica of the stomach
Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.
HH114
Alpha-2-MRAP
HBP44
LDL receptor related protein associated protein 1
BART1
binder of Arl2
ARHGAP14
KIAA0411
MEGAP
WRP
SLIT-ROBO Rho GTPase activating protein 3
BDNF/NT-3 growth factors receptor
TRKB
OBSOLETE: Rare hereditary iron overload disease
UQCR4
PGK
PKG
PKG1
Genetic intestinal disease due to fat malabsorption
CFAP163
DIC6
FAP163
Familial intestinal polyposis
High myopia-sensorineural hearing loss syndrome
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
High myopia-sensorineural deafness syndrome
Celia disease
Celia encephalopathy
Severe neurodegenerative syndrome due to BSCL2 deficiency
A rare neurodegenerative disease characterized by severe developmental delay (notably speech delay), progressive psychomotor and cognitive regression (associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy), and mild to severe intellectual disability. Patients present with gait ataxia, spasticity, tretraplegia or tetraparesis, loss of language, tremors as well as early-onset subtle myoclonic seizures that develops into refractory tonic-clonic seizures and other forms of epilepsy as the disease progress.
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
LCCS5
Lethal congenital contracture syndrome type 5
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.
Fetal akinesia-cerebral and retinal hemorrhage syndrome
HBSL
A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.
IBA57 deficiency
MMDS3
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.
Multiple mitochondrial dysfunctions syndrome type 3
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
SCAR18
A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
G-ALPHA-o
BBIS
Beaulieu-Boycott-Innes syndrome
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
SMALED
A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Worldwide AND has_cases/families_value : 97.0 (Case(s))
Autosomal dominant childhood-onset proximal spinal muscular atrophy
BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
SMALED2
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Testicular and paratesticular tumor
Europe AND has_annual_incidence_average_value : 3.15 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_lifetime_prevalence_average_value : 87.77 AND has_lifetime_prevalence_range : 6-9 / 10 000
Adenocarcinoma of the paratestis
A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.
Austria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 0.01 AND has_lifetime_prevalence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Teratoma of the testis
A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.
Europe AND has_lifetime_prevalence_average_value : 0.04 AND has_lifetime_prevalence_range : <1 / 1 000 000
Testicular sex cord-stromal tumor
A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors.
Austria AND has_annual_incidence_average_value : 0.049 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_lifetime_prevalence_average_value : 0.44 AND has_lifetime_prevalence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000
Non-dysgerminomatous germ cell tumor of testis
Testicular non seminomatous germ cell tumor
Testicular non-dysgerminomatous germ cell tumor
A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.
Europe AND has_annual_incidence_average_value : 1.21 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_lifetime_prevalence_average_value : 33.53 AND has_lifetime_prevalence_range : 1-5 / 10 000
Non-seminomatous germ cell tumor of testis
Testicular germ cell tumor
Shaheen syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.
Intellectual disability-strabismus syndrome
mtDNA depletion syndrome, hepatocerebrorenal form
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeﬂexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2R
AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.
Worldwide AND has_cases/families_value : 283.0 (Case(s))
Acute encephalopathy with biphasic seizures and late reduced diffusion
Bleeding disorder due to ADP platelet receptor P2Y12 defect
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
NORSE
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
Acute encephalopathy with inflammation-mediated status epilepticus
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
CTCF-related neurodevelopmental disorder
LCPS
LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
LMNA-related cardiocutaneous progeria syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB-related LGMD R19
LGMD type 2T
LGMD2T
Limb-girdle muscular dystrophy type 2T
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
GMPPB-related limb-girdle muscular dystrophy R19
OBSOLETE: GMPPB-related CMD
OBSOLETE: GMPPB-related congenital muscular dystrophy
MDP syndrome
MDPL syndrome
Mandibular hypoplasia-hearing loss-progeroid syndrome
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance.
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
XPDS
A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
X-linked parkinsonism-spasticity syndrome
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.
Premature aging syndrome, Penttinen type
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.
Acroosteolysis-keloid-like lesions-premature aging syndrome
Distal monosomy 1q
Monosomy 1qter
Telomeric deletion 1q
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
HUPRA syndrome
A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Cantu craniofaciofrontodigital syndrome
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
SCA37
Spinocerebellar ataxia with altered vertical eye movements
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.
AxD type I
An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
AxD type II
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
A rare congenital X-linked dyserythropoietic anemia characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow findings of trilineage dysplasia with hypocellularity of erythroid and granulocytic lineages. Peripheral blood shows anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Platelet count is typically normal, although platelet morphology may be abnormal.
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Balint-Holmes syndrome
Optic ataxia-gaze apraxia-simultanagnosia syndrome
Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
OBSOLETE: Familial CAD
OBSOLETE: Hereditary CAD
OBSOLETE: Hereditary cervical artery dissection
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Isolated spontaneous vertebral artery dissection
OBSOLETE: Familial cervical artery dissection
COL4A-related brain small vessel disease with hemorrhage
COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
COL4A1/COL4A2-related familial vascular leukoencephalopathy
A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
COL4A1/2-related familial vascular leukoencephalopathy
Hereditary sensory and autonomic neuropathy type I
A rare slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances in some patients, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Hereditary sensory and autonomic neuropathy type 1
GEFS+
Generalized epilepsy with febrile seizures plus
A rare familial epilepsy syndrome characterized by febrile, focal and generalized seizures, with a spectrum of phenotypes largely variable among different family members.
Genetic epilepsy with febrile seizure plus
PNS
Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.
GALNAC-4-ST1
GALNAC4ST-1
Monosomy 17q21.31
Europe AND has_point_prevalence_average_value : 1.82 AND has_point_prevalence_range : 1-9 / 100 000
Koolen-De Vries syndrome due to a point mutation
A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.
Adiposalgia
Adipose tissue rheumatism
Dercum disease
Lipomatosis dolorosa
A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.
CBL syndrome
Noonan syndrome-like disorder with JMML
A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
GCT of bone
Osteoclastoma
A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.
Worldwide AND has_annual_incidence_average_value : 0.1404 AND has_annual_incidence_range : 1-9 / 1 000 000
CMT4B3
Charcot-Marie-Tooth disease with focally folded myelin
A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood onset of slowly progressing, demyelinating or axonal sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and absence of deep tendon reflexes). In some patients microcephaly, intellectual disability, and multiple cranial neuropathies have been described.
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
15q26.3 microdeletion syndrome
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
NIHF
Non-immune HF
Non-immune fetal edema
Non-immune fetal hydrops
Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.
Thailand AND has_point_prevalence_average_value : 300.0 AND has_point_prevalence_range : >1 / 1000
Worldwide AND has_birth_prevalence_average_value : 42.0 AND has_birth_prevalence_range : 1-5 / 10 000
G6P deficiency
GSD due to G6P deficiency
GSD type 1
GSD type I
Glycogen storage disease due to G6P deficiency
Glycogen storage disease type 1
Glycogen storage disease type I
Glycogenosis type 1
Glycogenosis type I
Hepatorenal glycogenosis
Von Gierke disease
A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Glycogen storage disease due to glucose-6-phosphatase deficiency
IHF
Immune HF
Immune fetal edema
Immune fetal hydrops
Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.
United Kingdom AND has_birth_prevalence_average_value : 33.3 AND has_birth_prevalence_range : 1-5 / 10 000
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.
X-linked intellectual disability due to GRIA3 mutations
Systemic EBV+ T-cell LPD of childhood
Systemic EBV-positive T-cell lymphoproliferative disease of childhood
A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Angiocentric cutaneous T-cell lymphoma of childhood
HVLL
Hydroa-like cutaneous T-cell lymphoma
A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.
ALK+ LBCL
ALK+ large B-cell lymphoma
A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.
EOSRD
Early-onset severe retinal dystrophy
SECORD
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.
Severe early-childhood-onset retinal dystrophy
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
Infantile epileptic-dyskinetic encephalopathy
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.
Hypocomplementemic urticarial vasculitis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Glioblastoma
A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.
Dermatostomatitis, Stevens Johnson type
A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.
MGC2655
fSAP35
functional spliceosome-associated protein 35
Primary osteodysplasia
Primary skeletal dysplasia
Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary osteodysplasia with micromelia
Primary skeletal dysplasia with micromelia
OPD spectrum disorder
OPSD
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
Otopalatodigital syndrome spectrum disorder
DENN/MADD domain containing 7A
DENND7A
MTMR5
myotubularin related 5
Dysostosis with limb anomaly as a major feature
Dysostosis with limb and face anomalies as a major feature
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Intellectual disability-brachydactyly-Pierre Robin syndrome
BMP-9
BMP9
CAP2
MT-SP2
Membrane-type serine protease 2
TMPRSS3
Transmembrane serine protease 3
Type II membrane serine protease
channel-activating serine protease 2
membrane-type serine protease 2
transmembrane serine protease 3
type II membrane serine protease
trnN
mitochondrially encoded tRNA-Asn (AAU/C)
AP-1
c-fos
Fos proto-oncogene, AP-1 transcription factor subunit
Rare bone disease related to a common gene or pathway defect
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Proteoglycan-related bone disorder
OBSOLETE: Aggrecan-related bone disorder
AAV receptor
AAVR
KIAA1837
Slob
PX domain containing serine/threonine kinase like
Juxtaposed with Another Zinc Finger
TIP27
ZNF802
aspartate tRNA ligase 1, cytoplasmic
Alpha-1,4-glucosidase acid deficiency
GSD due to acid maltase deficiency
GSD type 2
GSD type II
Glycogen storage disease type 2
Glycogen storage disease type II
Glycogenosis due to acid maltase deficiency
Glycogenosis type 2
Glycogenosis type II
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.
Australia AND has_birth_prevalence_average_value : 0.68 AND has_birth_prevalence_range : 1-9 / 1 000 000
Austria AND has_birth_prevalence_average_value : 11.5 AND has_birth_prevalence_range : 1-5 / 10 000
China AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
Czech Republic AND has_birth_prevalence_average_value : 0.37 AND has_birth_prevalence_range : 1-9 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 2.25 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 0.17 AND has_birth_prevalence_range : 1-9 / 1 000 000
Specific population AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000
Glycogen storage disease due to acid maltase deficiency
CSS1
KIAA0990
GluD2
GluR-delta-2
glutamate ionotropic receptor delta type subunit 2
iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
iron-sulfur cluster assembly factor IBA57
KIAA0699
COD2
KIAA1134
TAD3
tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)
RDC8
11 zinc finger transcriptional repressor
CFAP108
FAP108
CDC2
CDC2 homolog (S. cerevisiae)
DNA polymerase delta 1, catalytic subunit
SERS
SYS
SerRSmt
mtSerRS
serine tRNA ligase 2, mitochondrial
Amylo-1,6-glucosidase deficiency
Cori disease
Cori-Forbes disease
Forbes disease
GDE deficiency
GSD due to glycogen debranching enzyme deficiency
GSD type 3
GSDIII
Glycogen storage disease type 3
Glycogen storage disease type III
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogenosis type 3
Glycogenosis type III
Limit dextrinosis
A rare inborn error of metabolism disease characterized by variable liver, skeletal muscle and cardiac involvement, usually presenting in early childhood.
Glycogen storage disease due to glycogen debranching enzyme deficiency
sodium pump subunit alpha-1
sodium-potassium ATPase catalytic subunit alpha-1
sodium/potassium-transporting ATPase subunit alpha-1
ATPase Na+/K+ transporting subunit alpha 1
B-cell lineage specific activator
BSAP
PAX-5
Amylopectinosis
GSD due to glycogen branching enzyme deficiency
GSD type 4
GSD type IV
Glycogen storage disease type 4
Glycogen storage disease type IV
Glycogenosis due to glycogen branching enzyme deficiency
Glycogenosis type 4
Glycogenosis type IV
A rare form of glycogen storage disease characterized by a continuum of clinical manifestations of variable presentation and severity, involving hepatic, neuromuscular and/or cardiac symptoms.
Worldwide AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000
Glycogen storage disease due to glycogen branching enzyme deficiency
BUB1A
hBUB1
BUB1 mitotic checkpoint serine/threonine kinase
BUB3L
MSP
NF15S2
CILD26
DNAAF16
FBB18
Kur
dynein axonemal assembly factor 16
kurly homolog (zebrafish)
cilia and flagella associated protein 298
CFAP250
CILD27
DRC2
FAP250
NYD-SP28
CILD28
CT140
DNAAF13
HSD-3.8
SP75
TPIS
dynein axonemal assembly factor 13
GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD type V
Glycogen storage disease type 5
Glycogen storage disease type V
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
Glycogenosis type V
McArdle disease
Myophosphorylase deficiency
A form of glycogen storage disease (GSD) characterized by exercise intolerance and rhabdomyolysis episodes, due to a deficiency of the muscle isoform of glycogen phosphorylase.
Spain AND has_point_prevalence_average_value : 0.035 AND has_point_prevalence_range : 1-9 / 1 000 000
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
CCP4
cytosolic carboxypeptidase 4
HAP
NR1B2
RAR-beta
RARbeta
RRB2
HsPK 21
NEK2A
NLK1
PPP1R111
RP67
protein phosphatase 1, regulatory subunit 111
Alcohol-responsive dystonia
Hereditary essential myoclonus
Myoclonic dystonia
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
GSD due to liver glycogen phosphorylase deficiency
GSD type 6
GSD type VI
Glycogen storage disease type 6
Glycogen storage disease type VI
Glycogenosis due to liver glycogen phosphorylase deficiency
Glycogenosis type 6
Glycogenosis type VI
Hepatic glycogen phosphorylase deficiency
Hepatic phosphorylase deficiency
Liver glycogen phosphorylase deficiency
A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood.
Glycogen storage disease due to liver glycogen phosphorylase deficiency
A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.
Denmark AND has_point_prevalence_average_value : 0.023 AND has_point_prevalence_range : <1 / 1 000 000
Korea, Republic of AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000
ABIN-1
KIAA0113
NAF1
Nef-associated factor 1 SNP
VAN
virion-associated nuclear-shuttling protein
A20
OTUD7C
UBCH7
CD252
OX-40L
gp34
BSPI
ETA-1
early T-lymphocyte activation 1
lnc-PKD2-2-3
IRAK
pelle
interleukin 1 receptor associated kinase 1
Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1
ETS-1
ets protein
ETS proto-oncogene 1, transcription factor
multiple C2 and transmembrane domain containing 2
BTBD29
LZTR-1
leucine zipper like post translational regulator 1
Septin-14
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2S
LGMD type 2S
LGMD2S
Limb-girdle muscular dystrophy type 2S
TRAPPC11-related LGMD R18
A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
TRAPPC11-related limb-girdle muscular dystrophy R18
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
VPS45 deficiency
Vacuolar sorting protein 45 deficiency
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
SIFD syndrome
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RI-CMT type C
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
Del(2)(p21) without cystinuria
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
2p21 microdeletion syndrome without cystinuria
2p21 contiguous gene deletion syndrome
MED13L-related intellectual disability syndrome
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-specific early-onset epileptic encephalopathy
OBSOLETE: Early infantile epileptic encephalopathy without suppression burst
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Orofaciodigital syndrome type 5
OBSOLETE: DDX59-related orofaciodigital syndrome
COXPD17
Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.
Combined oxidative phosphorylation defect type 17
PCH9
A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
Der(8)t(8;12)
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Intellectual disability-seizures-macrocephaly-obesity syndrome
CblJ defects
Cobalamin J defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
Methylmalonic aciduria with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblJ
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
Methylmalonic aciduria with homocystinuria, type cblX
Methylmalonic acidemia with homocystinuria, type cblX
MMCAT syndrome
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome
SAM syndrome
A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.
Severe dermatitis-multiple allergies-metabolic wasting syndrome
A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.
Diffuse palmoplantar keratoderma with painful fissures
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Denmark AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
Denmark AND has_point_prevalence_range : 1-9 / 1 000 000
GSD due to phosphorylase kinase deficiency
GSD type 9
GSD type IX
Glycogen storage disease due to PhK deficiency
Glycogen storage disease type 9
Glycogen storage disease type IX
Glycogenosis due to phosphorylase kinase deficiency
Glycogenosis type 9
Glycogenosis type IX
Gycogenosis due to PhK deficiency
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
Glycogen storage disease due to phosphorylase kinase deficiency
A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.
Focal palmoplantar keratoderma with joint keratoses
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.
Intellectual disability-facial dysmorphism-hand anomalies syndrome
SEMDIST
Spondyloepimetaphyseal dysplasia with severe short stature
A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondylometaphyseal dysplasia, A4 type
Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Poretti-Boltshauser syndrome
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
AML with t(8;16)(p11;p13) translocation
A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Schauder syndrome
A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.
Aplasia cutis congenita-nevus sebaceus syndrome
A rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.
Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.
Nevus epidermicus verrucosus with angiodysplasia and aneurysms
A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.
ALS19
HER4
human epidermal growth factor receptor 4
FACS
Fetal AEDS
Fetal antiepileptic drug syndrome
Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome, such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.
Proximal dup(16)(p11.2)
Proximal trisomy 16p11.2
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Proximal 16p11.2 microduplication syndrome
A rare genetic parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illnesses can exacerbate deterioration of liver failure.
Acute infantile liver failure-multisystemic involvement syndrome
OCA5
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.
OCA6
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
Rare disorder with dystonia and other neurologic or systemic manifestation
v-AT
A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
Medich macrothrombocytopenia
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.
White platelet syndrome (WPS) is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.
EOE
Extraosseous Ewing sarcoma
Extraosseous Ewing tumor
Extraskeletal Ewing tumor
Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.
Austria AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.112 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.106 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.081 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000
PPNET
Peripheral PNET
Peripheral neuroepithelioma
A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.
Peripheral primitive neuroectodermal tumor
ACT1
CIKS
SCCO
Small cell ovarian carcinoma
Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.
EEF-2
Polypeptidyl-tRNA translocase
polypeptidyl-tRNA translocase
eukaryotic translation elongation factor 2
TAZ-1
zinc finger and BTB domain containing 18
Autoimmune enteropathy type 1
IPEX
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
Worldwide AND has_cases/families_value : 195.0 (Case(s))
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
CDG syndrome type Iw
CDG-Iw
CDG1W
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type Iw
STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
CDG syndrome type Ix
CDG-Ix
CDG1X
Carbohydrate deficient glycoprotein syndrome type Ix
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ix
STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).
CDG syndrome type Iy
CDG-Iy
CDG1Y
Carbohydrate deficient glycoprotein syndrome type Iy
Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type Iy
SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).
A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.
ST3GAL5-CDG
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.
SLC35A3-CDG
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
CMD due to dystroglycanopathy
Congenital muscular dystrophy due to dystroglycanopathy
CMD with cerebellar involvement
CMD-CRB
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
Congenital muscular dystrophy with cerebellar involvement
CMD with intellectual disability
CMD-MR
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Congenital muscular dystrophy with intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Congenital muscular dystrophy without intellectual disability
MEB disease with bilateral multicystic leucodystrophy
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
GSD due to muscle phosphofructokinase deficiency
GSD type 7
GSD type VII
Glycogen storage disease type 7
Glycogen storage disease type VII
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogenosis type 7
Glycogenosis type VII
Tarui disease
A rare form of glycogen storage disease (GSD) characterized classically by exertional fatigue and muscular exercise intolerance. It occurs typically in childhood and adolescence.
Glycogen storage disease due to muscle phosphofructokinase deficiency
CMDH
Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.
Congenital muscular dystrophy with hyperlaxity
Alpha-dystroglycanopathy
Dystroglycanopathy
Qualitative or quantitative defects of alpha-dystroglycan
Primary alpha-dystroglycanopathy
Primary dystroglycanopathy
Primary qualitative or quantitative defects of alpha-dystroglycan
CDG with neurological involvement
Congenital disorder of glycosylation with neurological involvement
OBSOLETE: X-linked CDG with intellectual disability as a major feature
OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature
OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature
OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
CDG with epilepsy as a major feature
Congenital disorder of glycosylation with epilepsy as a major feature
CALM
CLTH
phosphatidylinositol binding clathrin assembly protein
CDG with hepatic involvement
Congenital disorder of glycosylation with hepatic involvement
UDP-N-acetylglucosamine transporter
LYT-10
NF-kB2
p52
CDG with dilated cardiomyopathy
Congenital disorder of glycosylation with dilated cardiomyopathy
CDG with cardiac malformation as a major feature
Congenital disorder of glycosylation with cardiac malformation as a major feature
CDG with intestinal involvement
Congenital disorder of glycosylation with intestinal involvement
CDG-related bone disorder
Congenital disorder of glycosylation-related bone disorder
CDG with skin involvement
Congenital disorder of glycosylation with skin involvement
CDG with nephropathy as a major feature
Congenital disorder of glycosylation with nephropathy as a major feature
CDG with deafness as a major feature
CDG with hearing loss as a major feature
Congenital disorder of glycosylation with hearing loss as a major feature
Congenital disorder of glycosylation with deafness as a major feature
BBS20
NPHP17
SLB
osm-1
wim
wimple homolog
CDG with developmental anomaly
Congenital disorder of glycosylation with developmental anomaly
ACC-4
ACC-5
ACC4
ACC5
P2Y11
KIAA0844
Su48
Talanin
UAN
HPC-1
GPI transamidase component PIG-T
GPI transamidase subunit
PIG-T
phosphatidylinositol glycan anchor biosynthesis class T
IHPRF syndrome
Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
Hypotonia-speech impairment-severe cognitive delay syndrome
MONA spectrum
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
Multicentric osteolysis-nodulosis-arthropathy spectrum
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare cerebrovascular dementia
OBSOLETE: Genetic cerebrovascular dementia
Genetic syndromic esophageal malformation
TBC domain family 7
TBC7
TS complex subunit 3
Tre2-Bub2-Cdc16 Domain Family Member 7
JSX
NCKX5
Na/Ca-K exchanger 5
oculocutaneous albinism 6 (autosomal recessive)
CFAP133
DIC5
FAP133
MEGSIN
megsin
CDHR6
FIB1
KIAA1773
cadherin-related family member 6
CDHF14
CDHR11
FAT-J
cadherin-related family member 11
Bladder pain syndrome
IC/BPS
IC/PBS
Interstitial cystitis/bladder pain syndrome
Interstitial cystitis/painful bladder syndrome
Painful bladder syndrome
A rare non-infectious, chronic and most often progressive disease of the urinary bladder. It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgency. Interstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB).
Finland AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000
Golabi-Rosen syndrome
SDYS
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Facioauriculovertebral sequence
Anti-GBM syndrome
A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage.
China AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
New Zealand AND has_annual_incidence_average_value : 0.179 AND has_annual_incidence_range : 1-9 / 1 000 000
Anti-glomerular basement membrane disease
Andersen syndrome
Long QT syndrome type 7
A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
Netherlands AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.
BGCAN
betaglycan
betaglycan proteoglycan
transforming growth factor beta receptor 3
Camptodactyly-cleft palate-clubfoot syndrome
Distal arthrogryposis type 3
Distal arthrogryposis type IIA
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
Episodic ataxia with myokymia
A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Severe congenital neutropenia
foie gras homolog (zebrafish)
foigr
gry
gryzun homolog (Drosophila)
trafficking protein particle complex subunit 11
h-vps45
KICS1
SZT2A
SZT2B
seizure threshold 2 homolog A (mouse)
seizure threshold 2 homolog B (mouse)
FBL4
FBL5
ZNHIT5
zinc finger HIT-type containing 5
GP147
IPM150
interphotoreceptor matrix proteoglycan 1
AMPD isoform L
SPG63
6C6-Ag
BAP31
CDM
DXS1357E
ADAM metallopeptidase with thrombospondin type 1 motif 18
KIAA0307
bHLHe1
aryl hydrocarbon receptor nuclear translocator 2
MOZ
Monocytic leukemia zinc finger protein
EC45
L15
RPL10
RPLY10
RPYL10
eL15
CanIon
HSPC192
LARS1
LEUS
RNTLS
leucine tRNA ligase 1, cytoplasmic
CMT2U
MetRS
Methionine--tRNA ligase, cytoplasmic
SPG70
methionine tRNA ligase 1, cytoplasmic
ISWI
hISWI
hSNF2H
SNF2 related chromatin remodeling ATPase 5
VEGF-C
VRP
vascular endothelial growth factor-related protein
PXYLT1
XT-I
protein xylosyltransferase 1
CANP
ET1
Krp1
SARCOSIN
sarcomeric muscle protein
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
Australia AND has_point_prevalence_average_value : 0.61 AND has_point_prevalence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 0.39 AND has_point_prevalence_range : 1-9 / 1 000 000
Korea, Republic of AND has_point_prevalence_average_value : 0.007 AND has_point_prevalence_range : <1 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 5.3 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000
PLSTIRE
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
cementum attachment protein
TRAPD
translocon-associated protein delta
KIAA0620
Chronic urticaria with gammopathy
Chronic urticaria with macroglobulinemia
Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.
MZM1L
PIP5KIIA
PIP5KIIalpha
phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
BN-1
CD196
CKR-L3
CMKBR6
DCR2
DRY-6
GPR-CY4
GPR29
MGC9042
STT3-A
TMC
dolichyl-diphosphooligosaccharide protein glycotransferase
STT3 oligosaccharyltransferase complex catalytic subunit A
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B
SIMP
STT3-B
source of immunodominant MHC associated peptides
STT3 oligosaccharyltransferase complex catalytic subunit B
CDA016
CGI-39
GRIM-19
GRIM19
complex I B16.6 subunit
NADH:ubiquinone oxidoreductase subunit A13
A disorder with homogeneous therapeutic possibilities and an identified pathophysiological mechanism. Developmental anomalies are excluded.
Disease
A disorder resulting from a developmental anomaly involving more than one morphogenetic field. Malformative sequences and associations are included.
Malformation syndrome
A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations.
Biological anomaly
A disorder characterised by a morphological alteration resulting from a development anomaly involving a single morphogenetic field.
Morphological anomaly
A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved.
Clinical syndrome
A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances.
Particular clinical situation in a disease or syndrome
NON RARE IN EUROPE: Sicca syndrome
NON RARE IN EUROPE: Sjögren-Gougerot syndrome
CGD
Chronic septic granulomatosis
A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
Australia AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000
Denmark AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000
France AND has_birth_prevalence_average_value : 0.57 AND has_birth_prevalence_range : 1-9 / 1 000 000
Israel AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000
Israel AND has_point_prevalence_range : 1-9 / 1 000 000
Italy AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000
Japan AND has_point_prevalence_range : 1-9 / 1 000 000
Korea, Republic of AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000
Korea, Republic of AND has_point_prevalence_range : 1-9 / 1 000 000
Latin America AND has_birth_prevalence_average_value : 0.99 AND has_birth_prevalence_range : 1-9 / 1 000 000
Latin America AND has_point_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_range : 1-9 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000
Sweden AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.
GCPS
A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.
Europe AND has_birth_prevalence_range : 1-9 / 1 000 000
Chédiak-Higashi-like syndrome
Griscelli-Pruniéras syndrome
Partial albinism-immunodeficiency syndrome
Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).
GAMT deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
Guanidinoacetate methyltransferase deficiency
Conductive deafness with stapes fixation
Nance deafness
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
X-linked stapes gusher syndrome
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked non-syndromic genetic deafness
X-linked mixed deafness with perilymphatic gusher
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Palmoplantar keratoderma-sclerodactyly syndrome
Scleroatrophic syndrome
Sclerotylosis
A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.
NBIA
A group of rare neurometabolic disease characterized by progressive extrapyramidal dysfunction (including generalized or oromandibular dystonia, dysarthria, Parkinsonism, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. It encompasses several disorders that can be distinguised by MRI and patients may present with variable clinical features including neuropathy, spastic paraplegia, encephalopathy, autism, dementia, diabetus mellitus, retinitis pigmentosa, optic atrophy, hypogonadism, alopecia and deafness. The age at onset and rate of progression are variable among individuals.
Neurodegeneration with brain iron accumulation
Biliary hamartoma
MHL
Mesenchymal hamartoma of liver
VMC
Von Meyenburg complexes disease
Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).
Worldwide AND has_cases/families_value : 260.0 (Case(s))
NON RARE IN EUROPE: Acne inversa
NON RARE IN EUROPE: Ectopic acne
NON RARE IN EUROPE: Fox den disease
NON RARE IN EUROPE: Pyoderma fistulans significa
NON RARE IN EUROPE: Verneuil disease
NON RARE IN EUROPE: Hidradenitis suppurativa
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Europe AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 13.2 AND has_point_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000
Dihydropyrimidinase deficiency
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
Histiocytosis X
Langerhans cell granulomatosis
A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues.
A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.
Darling disease
A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.
Combined immunodeficiency with hypereosinophilia
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
OBSOLETE: Melanoma of uvea
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare eye tumor
CSPP
CSPP-L
JBTS21
centrosome and spindle pole associated protein 1
BBIP10
BBS18
EIF4AIII
Fal1
KIAA0111
eukaryotic translation initiation factor 4A3
SOM
sister-of-mammalian grainyhead
VR22
alpha-T-catenin
ZNF163B
growth factor independent 1B transcriptional repressor
Classic Hodgkin disease
Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.
Austria AND has_annual_incidence_average_value : 2.012 AND has_annual_incidence_range : 1-9 / 100 000
Belgium AND has_annual_incidence_average_value : 2.443 AND has_annual_incidence_range : 1-9 / 100 000
Bulgaria AND has_annual_incidence_average_value : 2.083 AND has_annual_incidence_range : 1-9 / 100 000
China AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 2.923 AND has_annual_incidence_range : 1-9 / 100 000
Czech Republic AND has_annual_incidence_average_value : 2.418 AND has_annual_incidence_range : 1-9 / 100 000
Estonia AND has_annual_incidence_average_value : 2.392 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 2.463 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_lifetime_prevalence_average_value : 22.9 AND has_lifetime_prevalence_range : 1-5 / 10 000
Finland AND has_annual_incidence_average_value : 2.232 AND has_annual_incidence_range : 1-9 / 100 000
France AND has_annual_incidence_average_value : 2.95 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 2.333 AND has_annual_incidence_range : 1-9 / 100 000
Iceland AND has_annual_incidence_average_value : 2.599 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 2.355 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 3.361 AND has_annual_incidence_range : 1-9 / 100 000
Japan AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 1.868 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 2.372 AND has_annual_incidence_range : 1-9 / 100 000
Malta AND has_annual_incidence_average_value : 2.701 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 2.27 AND has_annual_incidence_range : 1-9 / 100 000
Norway AND has_annual_incidence_average_value : 2.267 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000
Portugal AND has_annual_incidence_average_value : 2.435 AND has_annual_incidence_range : 1-9 / 100 000
Slovakia AND has_annual_incidence_average_value : 2.261 AND has_annual_incidence_range : 1-9 / 100 000
Slovenia AND has_annual_incidence_average_value : 2.265 AND has_annual_incidence_range : 1-9 / 100 000
Spain AND has_annual_incidence_average_value : 2.617 AND has_annual_incidence_range : 1-9 / 100 000
Switzerland AND has_annual_incidence_average_value : 3.091 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 2.504 AND has_annual_incidence_range : 1-9 / 100 000
United States AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000
protein Z, vitamin K dependent plasma glycoprotein
A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Predisposition to severe viral infection due to STAT1 deficiency
STAT1 deficiency
A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
TNK2-related epilepsy with severe cognitive regression
FV East Texas bleeding disorder
Factor V East Texas bleeding disorder
East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.
A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.
hexabrachion (tenascin)
A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.
Fatal post-viral neurodegenerative disorder
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
CMT4K
Charcot-Marie-Tooth disease type 4K
SURF1-related CMT4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
A form of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, areflexia, severely reduced motor nerve conduction velocities (25 m/s or less), and lactic acidosis with mitochondrial complex IV deficiency. Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
SURF1-related Charcot-Marie-Tooth disease type 4
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.
Growth retardation-mild developmental delay-chronic hepatitis syndrome
FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
Asparagine synthetase deficiency
A rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
FEPS
A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.
A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.
Familial episodic pain syndrome with predominantly upper body involvement
A subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.
Familial episodic pain syndrome with predominantly lower limb involvement
CIP with hyperhidrosis and gastrointestinal dysfunction
Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
HSAN with hyperhidrosis and gastrointestinal dysfunction
HSAN7
Hereditary sensory and autonomic neuropathy type VII
Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.
Hereditary sensory and autonomic neuropathy type 7
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.
2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
HSD10 deficiency
MHBD deficiency
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
HSD10 deficiency, neonatal type
MHBD deficiency, neonatal type
HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.
CCTalpha
CTP:phosphocholine cytidylyltransferase-alpha
CTPCT
choline-phosphate cytidylyltransferase alpha
phosphorylcholine transferase alpha
phosphate cytidylyltransferase 1A, choline
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
OBSOLETE: Syndromic median cleft syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Frontonasal dysplasia
OBSOLETE: Syndromic frontonasal dysplasia
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Adult-onset acquired myasthenia
Adult-onset autoimmune myasthenia gravis
A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.
Serbia AND has_annual_incidence_average_value : 1.33 AND has_annual_incidence_range : 1-9 / 100 000
Serbia AND has_point_prevalence_average_value : 31.8 AND has_point_prevalence_range : 1-5 / 10 000
United Kingdom AND has_point_prevalence_average_value : 28.0 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 17.0 AND has_point_prevalence_range : 1-5 / 10 000
Childhood myasthenia gravis
Juvenile acquired myasthenia
Juvenile autoimmune myasthenia gravis
Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.
NMG
Neonatal myasthenia gravis
Transient neonatal acquired myasthenia
Transient neonatal autoimmune myasthenia gravis
Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.
GCN2
KIAA1338
eIF-2-alpha kinase
eukaryotic translation initiation factor 2 alpha kinase 4
KIAA0024
PSSA
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.
A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.
A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure.
Off-periods in Parkinson disease not responding to oral treatment
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Human infection by orthopoxvirus
HoFH
A rare disorder of lipid metabolism characterized by severely elevated plasma total cholesterol, low-density lipoprotein (LDL) cholesterol levels, and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of premature cardiovascular disease and death. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction and aortic valvular disease.
Denmark AND has_point_prevalence_average_value : 0.625 AND has_point_prevalence_range : 1-9 / 1 000 000
Germany AND has_point_prevalence_average_value : 0.125 AND has_point_prevalence_range : 1-9 / 1 000 000
Japan AND has_annual_incidence_average_value : 0.5842 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 0.3194 AND has_point_prevalence_range : 1-9 / 1 000 000
Homozygous familial hypercholesterolemia
A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum.
Worldwide AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000
SOPH syndrome
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
CALR1
SSA
Sicca syndrome antigen A (autoantigen Ro; calreticulin)
autoantigen Ro
cC1qR
calregulin
Appendiceal mucinous adenocarcinoma
Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.
Rare genetic dystonic disorder
JBTS22
retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
KDELC family like 1
KDELCL1
MDS010
MDSRP
Rumi
hCLP46
PLZF
promyelocytic leukaemia zinc finger
zinc finger and BTB domain containing 16
NUMA
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
Hungary AND has_birth_prevalence_average_value : 0.95 AND has_birth_prevalence_range : 1-9 / 1 000 000
ACK
ACK1
activated Cdc42-associated kinase 1
p21cdc42Hs
T-plastin
SLC56A4
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
XX, male syndrome
A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.
46,XX testicular difference of sex development
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS).
Denmark AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 0.77 AND has_birth_prevalence_range : 1-9 / 1 000 000
Ireland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000
Norway AND has_birth_prevalence_average_value : 15.6 AND has_birth_prevalence_range : 1-5 / 10 000
Qatar AND has_birth_prevalence_average_value : 55.5 AND has_birth_prevalence_range : 1-5 / 10 000
Worldwide AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000
Homocystinuria due to cystathionine beta-synthase deficiency
CRF
CRH1
corticoliberin
corticotropin-releasing factor
Glutaric aciduria type 2, severe neonatal type
MAD deficiency, severe neonatal type
MADD, severe neonatal type
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Glutaric aciduria type 2, mild type
MAD deficiency, mild type
MADD, mild type
Multiple acyl-CoA dehydrogenase deficiency, mild type
IDDM20
LNK
lymphocyte adaptor protein
asparagine synthetase (glutamine-hydrolyzing)
transient receptor potential cation channel subfamily A member 1
TRM10
INPP5G
PARK20
inositol polyphosphate-5-phosphatase G
phosphoinositide 5-phosphatase
synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
FXY2
MRX101
RNF60
TRIM1
gamma-adducin
Cbp6
M19
bA6B20.2
cytochrome B protein synthesis 6 homolog (S. cerevisiae)
ubiquinol-cytochrome c reductase complex assembly factor 2
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
CAB2
MGC9753
PER1
PP1498
post-GPI attachment to proteins 3
post-GPI attachment to proteins phospholipase 3
YAP-1
YAP65
Yes1 associated transcriptional regulator
CHIP
HSPABP2
NY-CO-7
SDCCAG7
UBOX1
STIP1 homology and U-box containing protein 1
ADRARL1
p65
MGC3032
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.
ADGF
Horton disease
Temporal arteritis
A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.
Germany AND has_point_prevalence_average_value : 8.9 AND has_point_prevalence_range : 1-9 / 100 000
Italy AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000
Italy AND has_point_prevalence_average_value : 30.4 AND has_point_prevalence_range : 1-5 / 10 000
Norway AND has_annual_incidence_average_value : 16.8 AND has_annual_incidence_range : 1-5 / 10 000
Sweden AND has_annual_incidence_average_value : 7.7 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 11.2 AND has_annual_incidence_range : 1-5 / 10 000
Disseminated granulomatous dermatophytosis
A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.
Silver-Russell syndrome due to a point mutation
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
APDS
Activated p110-delta syndrome
PASLI
PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency
Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.
Chronic diarrhea with HSAN
Chronic diarrhea with hereditary sensory and autonomic neuropathy
Prion protein systemic amyloidosis
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
Macrocephaly-developmental delay syndrome
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.
FHONDA syndrome
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
SAMS syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Familial isolated prolactin receptor deficiency
Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Congenital amegakaryocytic thrombocytopenia
OBSOLETE: Hereditary isolated aplastic anemia
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
SNX14-related autosomal recessive spinocerebellar ataxia
A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
JBTS with JATD
Joubert syndrome with JATD
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
COASY protein-associated neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.
MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.
Periodic paralysis with later-onset distal motor neuropathy
A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
Periodic paralysis with transient compartment-like syndrome
Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
CID due to IKBKB deficiency
Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency
A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Combined immunodeficiency due to IKBKB deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Severe combined immunodeficiency
OBSOLETE: T+ B+ severe combined immunodeficiency
Cerebro-cutaneous syndrome with iron overload
A rare neurodegenerative disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
IQSEC2-related syndromic intellectual disability
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
PGBM1
Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
Autosomal spastic ataxia type 2
SPAX2
SPG58
A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Microcephaly-thin corpus callosum-intellectual disability syndrome
TCR-alpha-beta+ T-cell deficiency
A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.
TCR-alpha-beta-positive T-cell deficiency
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
Combined immunodeficiency due to MALT1 deficiency
CMT2R
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.
MOMES syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Cancer of penis
Malignant penile tumor
Penile cancer
Brazil AND has_annual_incidence_average_value : 4.85 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 1.075 AND has_annual_incidence_range : 1-9 / 100 000
Uganda AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 1.21 AND has_annual_incidence_range : 1-9 / 100 000
Penile adenocarcinoma
An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.
Austria AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Penile squamous cell carcinoma
A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.
Austria AND has_annual_incidence_average_value : 0.491 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.605 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.516 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.684 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.57 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.426 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.638 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.475 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.606 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.552 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.628 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.612 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.744 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.396 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.745 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.499 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.45 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.791 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.597 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.691 AND has_annual_incidence_range : 1-9 / 1 000 000
Refractory CD
Refractory sprue
Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.
A rare imprinting disorder characterized by muscular hypotonia, joint contractures/arthrogryposis, developmental delay, usually mild to moderate intellectual disability, short stature, hypogonadism, autism spectrum disorder and, less often, hyperphagia and seizures.
PWS-like
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.
Worldwide AND has_cases/families_value : 117.0 (Case(s))
SIM1-related PWLS
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
Hereditary cryohydrocytosis with normal stomatin
Transplacentally acquired neonatal autoimmune disease
Neonatal Hughes syndrome
Neonatal antiphospholipid antibody syndrome
Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).
Neonatal AHA
Neonatal AIHA
A rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.
Neonatal DM
A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.
GvHD
A rare immune disease characterized by donor-derived immune cells, primarily T cells, recognizing the recipient's tissues as foreign and mounting an immune response against them. It is a significant complication following allogeneic hematopoietic cell transplantation (alloHCT). Graft versus host disease (GVHD) is classified into acute (aGVHD) and chronic (cGVHD) forms.
A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.
United States AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 1 000 000
A rare secondary neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.
AFP
Atypical facial pain
PIFP
A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.
Germany AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_lifetime_prevalence_average_value : 30.0 AND has_lifetime_prevalence_range : 1-5 / 10 000
Netherlands AND has_annual_incidence_average_value : 4.4 AND has_annual_incidence_range : 1-9 / 100 000
OAFNS
A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.
FFDD
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.
Worldwide AND has_cases/families_value : 147.0 (Case(s))
FFDD type II
FFDD2
Focal facial dermal dysplasia 2, Brauer-Setleis type
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
GMP
PNT5
cN-II
purine 5' nucleotidase
CD236
CD236R
GPC
GPD
GYPD
Gerbich antigen
glycophorin D
sialoglycoprotein D
Epithelial cancer of ovary
Ovarian epithelial cancer
Ovarian malignant epithelial tumor
Europe AND has_annual_incidence_average_value : 9.39 AND has_annual_incidence_range : 1-9 / 100 000
Non-epithelial cancer of ovary
Ovarian malignant non-epithelial tumor
Ovarian non-epithelial cancer
Europe AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000
Ovarian mucinous adenocarcinoma
Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.
Austria AND has_annual_incidence_average_value : 0.497 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.883 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 1.154 AND has_annual_incidence_range : 1-9 / 100 000
Croatia AND has_annual_incidence_average_value : 0.815 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.995 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 1.108 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 1.062 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 0.666 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.469 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.706 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.666 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.503 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.567 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 1.162 AND has_annual_incidence_range : 1-9 / 100 000
Netherlands AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.717 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.665 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.945 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.601 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.695 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.563 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.815 AND has_annual_incidence_range : 1-9 / 1 000 000
Ovarian clear cell adenocarcinoma
A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.
Austria AND has_annual_incidence_average_value : 0.112 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.361 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.201 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.147 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.165 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.359 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.182 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.395 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.227 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.162 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.166 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.534 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.342 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.425 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.119 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.388 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.343 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.282 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.451 AND has_annual_incidence_range : 1-9 / 1 000 000
OBSOLETE: PPSPC
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary peritoneal carcinoma
OBSOLETE: Primary peritoneal serous/papillary carcinoma
Immature teratoma of ovary
Ovarian immature teratoma
Ovarian malignant teratoma
A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.
Belgium AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000
Huntington chorea
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Australia AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000
Australia AND has_point_prevalence_average_value : 6.3 AND has_point_prevalence_range : 1-9 / 100 000
Canada AND has_annual_incidence_average_value : 0.69 AND has_annual_incidence_range : 1-9 / 1 000 000
China AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000
China AND has_point_prevalence_average_value : 0.37 AND has_point_prevalence_range : 1-9 / 1 000 000
Cyprus AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Cyprus AND has_point_prevalence_average_value : 4.64 AND has_point_prevalence_range : 1-9 / 100 000
Denmark AND has_point_prevalence_average_value : 5.8 AND has_point_prevalence_range : 1-9 / 100 000
Egypt AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000
Greece AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000
Greece AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
Iceland AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
Ireland AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_point_prevalence_average_value : 6.35 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000
Norway AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000
Slovenia AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000
Spain AND has_point_prevalence_average_value : 4.94 AND has_point_prevalence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000
Taiwan, Province of China AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Taiwan, Province of China AND has_point_prevalence_average_value : 0.42 AND has_point_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.61 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000
United States AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000
Alpha-B crystallin-related late-onset distal myopathy
Late-onset distal crystallinopathy
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.
Alpha-B crystallin-related late-onset myopathy
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.
KLHL9-related early-onset distal myopathy
Distal myopathy type 3
Finnish upper limb-onset distal myopathy
MPD3
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.
HNRNPA1-related adult-onset distal myopathy
MMD3
Miyoshi muscular dystrophy type 3
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.
Nebulin-related early-onset distal myopathy
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.
Autosomal recessive distal nebulin myopathy
Bone necrosis
AVN
Secondary AVN
Traumatic AVN
Secondary non-traumatic AVN
Secondary non-traumatic osteonecrosis
A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.
Secondary non-traumatic avascular necrosis
Rare hereditary disease with avascular necrosis
A rare osteonecrosis characterized by an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental interventions, or trauma and infections. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae.
Primary AVN
Idiopathic AVN
A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.
Epiphysiolysis of the upper femur
Femoral head epiphysiolysis
SCFE
SUFE
Slipped capital femoral epiphysis
Slipped upper femoral epiphysis
Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).
Bone necrosis of genetic origin
Rare male infertility due to gonadotropic axis disorder
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
Rare male infertility due to adrenal disorder
Rare male infertility due to testicular endocrine disorder
Male infertility due to testicular dysgenesis or sperm disorder
Male infertility due to gonadal dysgenesis or sperm disorder
Male infertility with spermatogenesis disorder
Male infertility with spermatogenesis disorder due to single gene mutation
A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.
Male infertility with teratozoospermia due to single gene mutation
Male infertility due to asthenozoospermia
Male infertility due to sperm motility disorder
Rare disorder due to impaired sperm transport
Rare disorder with obstructive azoospermia
Rare female infertility due to gonadotropic axis disorder
Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
Rare female infertility due to a congenital hypogonadotropic hypogonadism
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Rare female infertility due to an adrenal disorder
Rare female infertility due to an anomaly of ovarian function
Rare female infertility due to ovarian dysgenesis
Rare female infertility due to gonadal dysgenesis
Rare female infertility due to an implantation defect
Rare male infertility due to gonadotropic axis disorder of genetic origin
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare male infertility due to adrenal disorder of genetic origin
Male infertility due to impaired sperm transport of genetic origin
Male infertility due to obstructive azoospermia of genetic origin
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
Hydatid cyst
Hydatid disease
Hydatidosis
A rare parasitic disease characterized by slowly enlarging cysts of the liver, lungs and other organs which often go unnoticed for years. They are caused principally by the larval form (also called metacestode) of Echinococcus granulosus sensu lato tapeworm. The adult form of this tapeworm parasitizes the intestine of dogs. Cystic echinococcosis (formerly hydatidosis) generally affects large domestic herbivores and humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.
Rare genetic disorder due to impaired sperm transport
Rare genetic disorder with obstructive azoospermia
Rare female infertility due to gonadotropic axis disorder of genetic origin
Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare female infertility due to adrenal disorder of genetic origin
Rare female infertility due to an anomaly of ovarian function of genetic origin
Female infertility due to an implantation defect of genetic origin
GPI-anchored wall protein transfer 1 homolog (S. cerevisiae)
Gwt1
PIG-W
phosphatidylinositol glycan anchor biosynthesis class W
KIAA0678
RME8
DnaJ heat shock protein family (Hsp40) member C13
rd5
CGI-203
ISD11
IscS
NifS
Fbx38
MOKA
SP329
p110D
phosphatidylinositol 3-kinase, catalytic, delta polypeptide
phosphoinositide-3-kinase C
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
KICS4
Putative sodium-coupled neutral amino acid transporter 8
SNAT8
GSC1
Cohesin subunit SA-3
SA3
stromalin 3
HT013
adaptin-ear-binding coat-associated protein 1
Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.
SLC65C1
KIAA1613
PPP1R142
protein phosphatase 1, regulatory subunit 142
DFFRX
FAF-X
MRX99
fat facets-like, X-linked
G1/S-specific cyclin D2
HCCS1
hepatocellular carcinoma suppressor 1
TAFII105
TATA box binding protein (TBP)-associated factor 4B
TATA-box binding protein associated factor 4b
CoASY
DPCK
PPAT
bifunctional Coenzyme A synthase
Trilineage bone marrow failure-developmental delay syndrome
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.
Pancytopenia-developmental delay syndrome
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
Proximal myopathy with extrapyramidal signs
IKK-beta
IKK2
IKKB
NFKBIKB
inhibitor of nuclear factor kappa B kinase subunit beta
BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Optic atrophy-intellectual disability syndrome
SPG61
Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.
Autosomal recessive spastic paraplegia type 61
SPG62
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
Autosomal recessive spastic paraplegia type 62
SPG59
A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.
Autosomal recessive spastic paraplegia type 59
SPG60
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.
Autosomal recessive spastic paraplegia type 63
SPG64
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Autosomal recessive spastic paraplegia type 64
SPG66
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.
Autosomal recessive spastic paraplegia type 66
SPG67
Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
Autosomal recessive spastic paraplegia type 67
SPG68
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 68
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Autosomal recessive spastic paraplegia type 70
SPG71
A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.
Autosomal recessive spastic paraplegia type 71
SPG72
A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.
Lipoate biosynthesis defect
A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.
A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
Spasticity-ataxia-gait anomalies syndrome
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.
Childhood-onset spasticity with hyperglycinemia
MMDS1
NFU1 deficiency
A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.
Multiple mitochondrial dysfunctions syndrome type 1
BOLA3 deficiency
MMDS2
A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.
Multiple mitochondrial dysfunctions syndrome type 2
CIF150
TAFII150
TATA-box binding protein associated factor 2
C9ORF72-related Huntington disease phenocopy
C9ORF72-related Huntington disease-like syndrome
Huntington disease phenocopy due to C9ORF72 expansions
A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.
Huntington disease-like syndrome due to C9ORF72 expansions
AXIN2-related adenomatous polyposis
FHCC
Fibrolamellar hepatocarcinoma
A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.
Austria AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Monosomy 9q31.1q31.3
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.
Charcot-Marie-Tooth disease, type 2R
KIAA0517
RING finger protein 86
RNF86
Monosomy 14q24.1q24.3
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.
Familial median cleft of the upper and lower lips
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
Moyamoya disease with early-onset achalasia
CA-VA deficiency
A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Episodic ataxia type 8
Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.
KPNA7-related neurodevelopmental disorder
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
CMT2 with giant axons
HMSN2 with giant axons
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Male EBP disorder with neurological defects
A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.
A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Del(1)(p31p32)
Monosomy 1p31p32
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
Cold-induced sweating syndrome-hyperthermia spectrum
KIN
Systemic karyomegaly
A rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
AML with t(6;9)(p23;q34)
A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.
Worldwide AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Acute myeloid leukemia with t(6;9)(p23;q34)
AML with t(9;11)(p22;q23)
A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.
Acute myeloid leukemia with t(9;11)(p22;q23)
AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
Worldwide AND has_annual_incidence_average_value : 0.02
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Megakaryoblastic AML with t(1;22)(p13;q13)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
AML with NPM1 somatic mutations
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.
Acute myeloid leukemia with NPM1 somatic mutations
EGID
Primary eosinophilic gastrointestinal disease
A rare gastroenterologic disease characterized by extensive eosinophilic infiltration of the colon in the absence of any known cause of secondary intestinal eosinophilia. Patients present with abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, malabsorption, and/or weight loss. Symptoms do not correlate with the extent of the disease, which can be segmental or pancolonic. Blood testing may show peripheral eosinophilia. The condition has a bimodal age distribution, with a first peak in neonates and a second peak in young adulthood.
Worldwide AND has_cases/families_value : 196.0 (Case(s))
AR dRTA
Autosomal recessive distal RTA
A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.
Autosomal recessive distal renal tubular acidosis
Familial BAV
Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
EPM5
PME type 5
Progressive myoclonus epilepsy type 5
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
DFNB101
glutaredoxin and cysteine rich domain containing 2
EGFR pathway substrate 8, signaling adaptor
IL-21
Za11
KIAA1839
RBM40
SNRNP65
U11/U12 snRNP 65K
RNA binding region (RNP1, RRM) containing 3
COUP transcription factor II
COUP-TFII
COUPTF2
COUPTFB
NF-E3
SVP40
nuclear receptor subfamily 2 group F member 2
Hlcd
IDDM19
MDA-5
MDA5
helicard
melanoma differentiation-associated gene 5
interferon induced with helicase C domain 1
AP-1 complex subunit sigma 3
sigma1C
adaptor related protein complex 1 subunit sigma 3
Hsal2
KIAA0360
ZNF795
PTPH1
protein tyrosine phosphatase non-receptor type 3
HDV
Hepatitis D virus
Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.
Dexamethasone-sensitive hypertension
FH-I
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
XMP
HPRP4
HPRP4P
PRP4
PRP4/STK/WD splicing factor
Prp4p
SNRNP60
U4/U6 small nuclear ribonucleoprotein Prp4
pre-mRNA splicing tri-snRNP complex factor PRPF4
HEBO
RAD26L
CALC
EFHA3
COUP-TFI
COUPTF1
EAR-3
SVP44
TCFCOUP1
nuclear receptor subfamily 2 group F member 1
AIP1
ARMER
KIAA0069
ARL6 interacting reticulophagy regulator 1
Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
Erlin-1
KE04
HumORF8
KIAA0055
UBPY
Ubiquitin carboxyl-terminal hydrolase 8
Ubiquitin isopeptidase Y
Bun62
KIAA1449
P80
UAF1
USP1 associated factor 1
ATPDase
NTPDase-1
ectonucleoside triphosphate diphosphohydrolase 1
Bst1
GPI inositol-deacylase
post-GPI attachment to proteins inositol deacylase 1
fibronectin leucine rich transmembrane protein 1
ZFR1
Yip2d
UDG2
Fetal acitretin/etretinate syndrome
Retinoid embryopathy
A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.
CNTNAP
Caspr
neurexin 4
AC6
collagen type XII proteoglycan
FH-II
FH2
Familial hyperaldosteronism type 2
A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.
LAS
Lipoyl synthase, mitochondrial
Hsp40
RSPH16B
Sis1
radial spoke 16 homolog B (Chlamydomonas)
DnaJ heat shock protein family (Hsp40) member B1
PKA C-alpha
PKACa
cAMP-dependent protein kinase catalytic subunit alpha
protein kinase cAMP-activated catalytic subunit alpha
GC-SA3
guanylate cyclase 1 soluble subunit alpha 1
CAV
CAVA
IPOA8
importin alpha 8
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-specific syndromic intellectual disability
OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).
ADNP syndrome
ADNP-related Helsmoortel-Van der Aa syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
A rare neurodevelopmental disorder characterized by intellectual disability (ID), autistic features, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, and visual problems.
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
NGLY1 deficiency
NGLY1-CDDG
A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.
Alacrimia-choreoathetosis-liver dysfunction syndrome
A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
Multisystemic smooth muscle dysfunction syndrome
Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.
Female infertility due to zona pellucida defect
Rare female infertility due to oocyte maturation defect
CTNNB1 syndrome
CTNNB1-NDD
CTNNB1-related neurodevelopmental disorder
A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.
Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
GLOW syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
SCAR23
Spinocerebellar ataxia autosomal recessive type 23
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive spinocerebellar ataxia type 15
SCAR15
Salih ataxia
An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.
Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.
Clear cell papillary renal cell carcinoma
A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.
Acquired cystic disease-associated renal cell carcinoma
Diaphragmatic spinal muscular atrophy type 2
SMARD2
Severe infantile axonal neuropathy with respiratory failure type 2
X-linked spinal muscular atrophy with respiratory distress
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
Spinal muscular atrophy with respiratory distress type 2
X-linked dHMN
X-linked distal spinal muscular atrophy
X-linked distal hereditary motor neuropathy
Deficiency of IL-36R antagonist
Deficiency of IL-36Ra
A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.
ADA2 deficiency
Adenosine deaminase 2 deficiency
DADA2
Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome
A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.
B-K mole syndrome
FAMM-PC syndrome
FAMMM syndrome
Familial atypical mole syndrome
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Familial dysplastic nevus syndrome
Melanoma-pancreatic cancer syndrome
Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer and other malignancies.
Familial atypical multiple mole melanoma syndrome
Dysostosis of genetic origin with limb anomaly as a major feature
Genetic syndrome with limb reduction defects
Genetic syndrome with limb malformations as a major feature
Juvenile polyarthritis
Juvenile polyarticular arthritis
Polyarticular JIA
A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.
Polyarticular juvenile idiopathic arthritis
Rare genetic skeletal development disorder
GPI1
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
hGPI1
phosphatidylinositol glycan anchor biosynthesis class Q
AC1
adenylyl cyclase subtype 1
BBS19
CFAP156
FAP156
RAYL
Magmas
TIMM16
Tim16
mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction
presequence translocase associated motor 16
GUP2
MART-2
MART2
Skn
protein-cysteine N-palmitoyltransferase HHAT
rasp
sit
ski
ATP binding cassette subfamily A member 5
NPHP18
NY-REN-58
FBHH
Familial benign hypercalcemia
Familial benign hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
pancreatic carboxypeptidase A
UNC45
NON RARE IN EUROPE: HeFH
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
SRY-related HMG-box gene 11
ADNP homeobox 1
ADNP1
KIAA0784
activity-dependent neuroprotective protein
activity dependent neuroprotector homeobox
CLIP-170
CLIP170
CYLN1
restin
CAP-Gly domain containing linker protein 1
DustyPK
KIAA0472
RIP5
dual serine/threonine and tyrosine protein kinase
MCSP
PHGPx
phospholipid hydroperoxidase
selenoprotein GPX4
DFNB102
KIAA1032
Munc13-1
S29
uS14
MIX17 homolog A
MIX17A
coiled-coil-helix-coiled-coil-helix domain containing 10
glutamine tRNA ligase
SETD5A
PNG-1
PNG1
peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
ZPB1
rubicon
rundataxin
Las1
NKA
Non-ketotic hyperglycinemia
Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
Canada AND has_birth_prevalence_average_value : 1.59 AND has_birth_prevalence_range : 1-9 / 100 000
Finland AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000
Israel AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000
Portugal AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000
Saudi Arabia AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Specific population AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000
CRSP77
DRIP80
SRB4
TRAP80
MyoIC
NMI
Unconventional myosin-Ic
myr2
Hyperglycerolemia
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD).
TAT1
Testis anion transporter 1
DNAHC1
HDHC7
HL-11
HL11
XLHSRF-1
KIAA1601
SLAP
Sarcolemmal-associated protein
Flegel disease
A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.
Idiopathic retinal perivasculitis
Idiopathic retinal vasculitis
A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.
KIAA1354
KIAA1439
NFI-L
AF-9
AF9
YEATS3
OST1
oligosaccharyltransferase 1 homolog (S. cerevisiae)
oligosaccharyltransferase complex subunit (non-catalytic)
OTT
OTT1
one twenty-two
BSAC
KIAA1438
MAL
MKL
MRTF-A
basic, SAP and coiled-coil domain
megakaryocytic acute leukemia
myocardin-related transcription factor A
myocardin related transcription factor A
Acropigmentation of Dohi
A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities.
Japan AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
Chromosomal region associated with a hereditary disorder but without any precision on the possible associated gene.
DNA sequence translated into protein.
RNA transcript not translated into protein.
HO57
V-ATPase subunit B2
TUWD12
JKTBP
laAUF1
heterogeneous nuclear ribonucleoprotein D like
DIFF48
KIAA0386
MYONAP
myogenesis-related and NCAM-associated protein homolog (chicken)
RHO family interacting cell polarization regulator 2
TI-VAMP
VAMP-7
KDM3C
KIAA1380
lysine demethylase 3C
JM1
C21
DC42
F-box-like/WD repeat-containing protein TBL1XR1
IRA1
TBL1-related protein
TBLR1
BPEG
KIAA1297
MYLK6
SPEGalpha
SPEGbeta
striated muscle preferentially expressed protein kinase
DPZF
ODA-8S
zinc finger and BTB domain containing 20
KIAA1577
FBX14
FBXO14
Fbx31
leukocyte antigen-related tyrosine phosphatase
leukocyte common antigen related
protein tyrosine phosphatase receptor type F
ANILLIN
Scraps
scra
HLP type 1
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial chylomicronemia syndrome
ODA10
outer dynein arm docking complex subunit 3
GAP1M
Ras GTPase-activating protein 2
COD
Sm-B/B'
SmB/SmB'
snRNP-B
small nuclear ribonucleoprotein polypeptides B and B1
CLP1-related pontocerebellar hypoplasia
PCH10
A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.
A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
NON RARE IN EUROPE: CRVO
NON RARE IN EUROPE: Central retinal vein occlusion
Mild PRPP synthetase superactivity
Mild PRPS1 superactivity
A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.
Mild phosphoribosylpyrophosphate synthetase superactivity
Severe PRPP synthetase superactivity
Severe PRPS1 superactivity
A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.
Severe phosphoribosylpyrophosphate synthetase superactivity
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
Hirata disease
A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.
Europe AND has_point_prevalence_average_value : 0.017 AND has_point_prevalence_range : <1 / 1 000 000
Worldwide AND has_cases/families_value : 404.0 (Case(s))
Autosomal dominant late-onset Parkinson disease
LOPD
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).
A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
Intermediate cystinosis
Juvenile cystinosis
A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.
Adult-onset cystinosis
Non-nephropathic cystinosis
Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary eosinophilic gastrointestinal disease
OBSOLETE: Proton-pump inhibitor-responsive esophageal eosinophilia
Non-tuberculous mycobacterial lung disease
A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.
Pulmonary non-tuberculous mycobacterial infection
A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).
Worldwide AND has_birth_prevalence_range : 1-5 / 10 000
Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.
GEKA
Generalized eruptive keratoacanthomas of Grzybowski
Grzybowski syndrome
Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.
Europe AND has_point_prevalence_average_value : 7.8 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
FDLAB syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
Traboulsi syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Monosomy 13q12.3
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Xia-Gibbs syndrome
A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
DST-related epidermolysis bullosa simplex
EBS due to BP230 deficiency
A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
Epidermolysis bullosa simplex due to BP230 deficiency
EBS due to exophilin 5 deficiency
A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.
Epidermolysis bullosa simplex due to exophilin 5 deficiency
PFE
Primary retention of teeth
A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.
Worldwide AND has_cases/families_value : 314.0 (Case(s))
Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Ramsay Hunt syndrome
Hsh155
PRPF10
Prp10
SAP155
SF3b155
SSAT
diamine N-acetyltransferase 1
spermidine/spermine N1-acetyltransferase 1
enamel matrix protein
HIF-1
HYPB
KIAA1732
KMT3A
SET domain containing 2, histone lysine methyltransferase
DT1P1A10
WGG motif containing 1
WGG1
escortin
40S ribosomal protein S28
S28
eS28
NON RARE IN EUROPE: Familial hypertriglyceridemia
NON RARE IN EUROPE: HLP type 4
NON RARE IN EUROPE: Hyperlipoproteinemia type 4
CSQ1
PDIB1
calmitine
calsequestrin 1, fast-twitch, skeletal muscle
VNUT
ATP(CTP):tRNA nucleotidyltransferase
CCA-adding enzyme
CCA1
CGI-47
MtCCA
major histocompatibility complex, class I, C
CT76
cancer/testis antigen 76
synaptonemal complex central element protein 1
BCNG-1
HAC-2
hyperpolarization activated cyclic nucleotide gated potassium channel 1
INDY
NACT
Na(+)/citrate cotransporter
mINDY
mammalian INDY homolog (Drosophila)
Kv2.1
potassium voltage-gated channel subfamily B member 1
Hyperornithinemia
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Ornithine aminotransferase deficiency
Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.
UNQ655
ubiquinol-cytochrome c reductase complex assembly factor 3
N-Deacetylase-N-sulfotransferase 1
NST1
[Heparan sulfate]-glucosamine N-sulfotransferase 1
heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1
Genetic craniofacial cleft
S20
uS10
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
Worldwide AND has_cases/families_value : 111.0 (Case(s))
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
KIAA1771
ZIR2
CBP-interacting protein 3
CIP3
EAP2
OIP2
Opa interacting protein 2
RRP43
Rrp43p
NON RARE IN EUROPE: Adenocarcinoma of the lung
Kernicterus
NON RARE IN EUROPE: NAION
NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy
OBSOLETE: Variola
NON RARE IN EUROPE: SIDS
NON RARE IN EUROPE: Sudden infant death syndrome
A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.
Germany AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
Neonatal severe primary hyperparathyroidism
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
CAH
A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.
Belgium AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000
China AND has_point_prevalence_average_value : 1.36 AND has_point_prevalence_range : 1-9 / 100 000
Cuba AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000
Czech Republic AND has_birth_prevalence_average_value : 7.98 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 13.35 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 12.8 AND has_birth_prevalence_range : 1-5 / 10 000
India AND has_birth_prevalence_average_value : 38.8 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 6.65 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 5.35 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 7.65 AND has_birth_prevalence_range : 1-9 / 100 000
New Zealand AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000
Sweden AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000
Switzerland AND has_birth_prevalence_average_value : 9.3 AND has_birth_prevalence_range : 1-9 / 100 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000
PUR-ALPHA
PUR1
PURALPHA
RGS-PX2
radial fiber and mitotic spindle
radmis
Esophageal carcinoma, salivary gland type
A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.
Belgium AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Carcinoma of esophagus, salivary gland type
Undifferentiated esophageal carcinoma
A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.
Austria AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.115 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.101 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000
Gastric squamous cell carcinoma
A rare epithelial tumour of stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.
Austria AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.176 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.115 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.079 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.137 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.115 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000
Proline oxidase deficiency
A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).
KIF10
PPP1R61
protein phosphatase 1, regulatory subunit 61
DIB1
DIM1
HsT161
SNRNP15
U5-15kD
similar to S. pombe dim1+
SDR2E1
TDPGD
short chain dehydrogenase/reductase family 2E, member 1
SAS-6
SAS6
EWI-3
POT1 and TIN2 organizing protein
Pip1
Ptop
TIN2 interacting protein 1
Tint1
Tpp1
ACD shelterin complex subunit and telomerase recruitment factor
ASK2
MAPKKK6
MEKK6
apoptosis signal regulating kinase 2
mitogen-activated protein kinase kinase kinase 6
ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Australia AND has_birth_prevalence_average_value : 5.26 AND has_birth_prevalence_range : 1-9 / 100 000
Austria AND has_birth_prevalence_average_value : 4.02 AND has_birth_prevalence_range : 1-9 / 100 000
Canada AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000
Czech Republic AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000
Denmark AND has_birth_prevalence_average_value : 11.1 AND has_birth_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 16.1 AND has_birth_prevalence_range : 1-5 / 10 000
Greece AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000
Israel AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Italy AND has_birth_prevalence_average_value : 4.35 AND has_birth_prevalence_range : 1-9 / 100 000
Japan AND has_birth_prevalence_average_value : 1.96 AND has_birth_prevalence_range : 1-9 / 100 000
Netherlands AND has_birth_prevalence_average_value : 11.49 AND has_birth_prevalence_range : 1-5 / 10 000
Portugal AND has_birth_prevalence_average_value : 8.5 AND has_birth_prevalence_range : 1-9 / 100 000
Spain AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000
United Kingdom AND has_birth_prevalence_average_value : 7.25 AND has_birth_prevalence_range : 1-9 / 100 000
United States AND has_birth_prevalence_average_value : 5.85 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 6.85 AND has_point_prevalence_range : 1-9 / 100 000
Medium chain acyl-CoA dehydrogenase deficiency
HSPC264
Sotos syndrome 2
A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.
Secondary PAP
A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.
Secondary pulmonary alveolar proteinosis
SCD syndrome
A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.
Alpha-1,4-glucosidase acid deficiency, late-onset
GSD due to acid maltase deficiency, late-onset
GSD type 2, late-onset
GSD type II, late-onset
Glycogen storage disease type 2, late-onset
Glycogen storage disease type II, late-onset
Glycogenosis type 2, late-onset
Glycogenosis type II, late-onset
Pompe disease, late-onset
A rare form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year.
Worldwide AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000
Glycogen storage disease due to acid maltase deficiency, late-onset
MAGP2
MP25
microfibril-associated glycoprotein-2
DYT24
Dystonia 24
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Dystonia 23
A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.
Adult-onset cervical dystonia, DYT23 type
Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.
Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Bleeding disorder due to CalDAG-GEFI deficiency
EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency
A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
EBV-induced lymphoproliferative disease due to CTPS1 deficiency
Culler-Jones syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Worldwide AND has_cases/families_value : 112.0 (Case(s))
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Transient abnormal myelopoiesis
Transient myeloproliferative disease
A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.
A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
Europe AND has_birth_prevalence_average_value : 6.67 AND has_birth_prevalence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 6.68 AND has_point_prevalence_range : 1-9 / 100 000
KWWH type IV
Keratoderma with woolly hair type IV
Woolly hair-palmoplantar hyperkeratosis syndrome
Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
Woolly hair-palmoplantar keratoderma syndrome
A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
COXPD20
A rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).
Combined oxidative phosphorylation defect type 20
COXPD21
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Combined oxidative phosphorylation defect type 21
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).
Rare genetic odontal or periodontal disorder
Anti-IgLON5 disease
Anti-IgLON5 syndrome
A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.
LonHS
Mitochondrial ATP-dependent protease Lon
PIM1
hLON
Idiopathic and/or familial pulmonary arterial hypertension
A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.
China AND has_point_prevalence_average_value : 6.25 AND has_point_prevalence_range : 1-9 / 100 000
France AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000
Idiopathic/heritable pulmonary arterial hypertension
eIF-1A
eIF-4C
eukaryotic translation initiation factor 1A X-linked
crumbs cell polarity complex component 2
CAMII
PHKD2
phosphorylase kinase subunit delta 2
prepro-calmodulin 2
Sak
DFNA67
KIAA0772
ORP-2
PKC-mu
PKCM
PKD
PKD1
OBSOLETE: PHGDH deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency
Hereditary clear cell renal cell adenocarcinoma
Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.
Hereditary clear cell renal cell carcinoma
Antiviral innate immune response receptor RIG-I
RIG-1
RIG-I
RIG1
RNA helicase RIG-I
retinoic acid inducible gene I
BAH
CASQ2BP1
HAAH
JCTN
humbug
junctate
junctin
NUDR
SPN
ZMYND5
ATP/GTPbinding protein
HEAB
hClp1
polyribonucleotide 5'-hydroxyl-kinase
cleavage factor polyribonucleotide kinase subunit 1
Hyperthermia of anesthesia
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.
protein kinase cAMP-dependent type I regulatory subunit beta
SLAC2-B
synaptotagmin-like homologue lacking C2 domains b
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
SCA38
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
SCN due to JAGN1 deficiency
Severe congenital neutropenia due to jagunal homolog 1 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.
Severe congenital neutropenia due to JAGN1 deficiency
NTT4
Sodium-dependent neutral amino acid transporter SLC6A17
neurotransmitter transporter 4
Ectodermal dysplasia-short stature syndrome
Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
Worldwide AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000
ML 3 gamma
ML III gamma
Mucolipidosis type 3 gamma
Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
ARX-related encephalopathy-brain malformation spectrum
NON RARE IN EUROPE: Cortisol-producing adrenal tumor
DORV with subaortic or doubly committed VSD
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.
Rare gastric carcinoma
Hereditary cancer of stomach
Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.
OBSOLETE: Gastric carcinoma, salivary gland type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Carcinoma of esophagus, salivary gland type
OBSOLETE: Carcinoma of stomach, salivary gland type
Undifferentiated gastric carcinoma
Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.
Austria AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.764 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.328 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 2.743 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 0.211 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.221 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.399 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 2.571 AND has_annual_incidence_range : 1-9 / 100 000
Lithuania AND has_annual_incidence_average_value : 0.877 AND has_annual_incidence_range : 1-9 / 1 000 000
Malta AND has_annual_incidence_average_value : 0.251 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.386 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.456 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Rare tumor of small bowel
Mesenchymal tumor of small bowel
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Rare carcinoma of small bowel
Squamous cell carcinoma of the small bowel
Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.
Austria AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
Squamous cell carcinoma of the small intestine
NET of the small intestine
Neuroendocrine neoplasm of the small intestine
Neuroendocrine tumor of small bowel
Neuroendocrine tumor of the small intestine
Appendiceal epithelial tumor
A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.
Belgium AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000
Rare rectal epithelial tumor
Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
Familial hyperthyroidism due to mutations in TSH receptor
Rectal squamous cell carcinoma
A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.
Austria AND has_annual_incidence_average_value : 0.126 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.088 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.113 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.149 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.346 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.116 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.143 AND has_annual_incidence_range : 1-9 / 1 000 000
A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.
Austria AND has_annual_incidence_average_value : 0.238 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.485 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.269 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.253 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.105 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Iceland AND has_annual_incidence_average_value : 0.256 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.299 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.499 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.287 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.144 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.217 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.406 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.382 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000
Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.
Austria AND has_annual_incidence_average_value : 0.923 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.707 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.268 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.251 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.568 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 1.096 AND has_annual_incidence_range : 1-9 / 100 000
Germany AND has_annual_incidence_average_value : 1.307 AND has_annual_incidence_range : 1-9 / 100 000
Ireland AND has_annual_incidence_average_value : 0.416 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.872 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.238 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.153 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.621 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 1.071 AND has_annual_incidence_range : 1-9 / 100 000
Poland AND has_annual_incidence_average_value : 0.411 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.603 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.194 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.331 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 1.712 AND has_annual_incidence_range : 1-9 / 100 000
United Kingdom AND has_annual_incidence_average_value : 1.038 AND has_annual_incidence_range : 1-9 / 100 000
Squamous cell carcinoma of the anal canal
EPM8
PME type 8
Progressive myoclonic epilepsy due to CERS1 deficiency
Progressive myoclonus epilepsy type 8
A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.
Rare pancreatic epithelial tumor
Pancreatic squamous cell carcinoma
A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.
Austria AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Pancreatic acinar cell carcinoma
A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.
Bulgaria AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000
Pancreatic mucinous cystadenocarcinoma
A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.
Czech Republic AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Mucinous cystadenocarcinoma of the pancreas
IPMN
Pancreatic intraductal papillary mucinous carcinoma
Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.
Czech Republic AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000
Intraductal papillary mucinous carcinoma of pancreas
Frantz tumor
Solid pseudopapillary carcinoma of pancreas
Solid pseudopapillary neoplasm of the pancreas
A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.
Czech Republic AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Pancreatic solid pseudopapillary neoplasm
Pancreatic serous cystadenocarcinoma
A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.
Belgium AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
OGCT of pancreas
Osteoclastic giant cell tumor of pancreas
Pancreatic osteoclastic giant cell tumor
Pancreatic undifferentiated carcinoma with osteoclast-like giant cells
Undifferentiated carcinoma of pancreas with osteoclast-like giant cells
A rare type of pancreatic ductal adenocarcinoma characterized by composition of non-neoplastic osteoclast-like multinucleated giant cells, a mononuclear histiocytic component, and the neoplastic cells, which vary from spindle-shaped to epithelioid and can be very large and pleomorphic. Clinical features of pancreatic ductal adenocarcinoma include abdominal pain, nausea, weight loss, jaundice, and new-onset diabetes.
Czech Republic AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Microphthalmia-coloboma-rhizomelic skeletal dysplasia
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
Congenital myopathy with myasthenic-like onset
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive muscular dystrophy due to LAP1B deficiency
Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
LGMD type 2Y
LGMD2Y
Muscular dystrophy with progressive weakness, distal contractures and rigid spine
TOR1AIP1-related LGMD
A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
TOR1AIP1-related limb-girdle muscular dystrophy
Qualitative or quantitative defects of Torsin-1A-interacting protein 1
Rare malignant epithelial tumor of liver and IBT
Rare malignant epithelial tumor of liver and intrahepatic biliary tract
Carcinoma of liver and IBT
Carcinoma of liver and intrahepatic biliary tract
Adenocarcinoma of the liver and IBT
A rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.
Austria AND has_annual_incidence_average_value : 0.715 AND has_annual_incidence_range : 1-9 / 1 000 000
Belgium AND has_annual_incidence_average_value : 0.201 AND has_annual_incidence_range : 1-9 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.753 AND has_annual_incidence_range : 1-9 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.659 AND has_annual_incidence_range : 1-9 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.471 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.412 AND has_annual_incidence_range : 1-9 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.309 AND has_annual_incidence_range : 1-9 / 1 000 000
France AND has_annual_incidence_average_value : 0.262 AND has_annual_incidence_range : 1-9 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.582 AND has_annual_incidence_range : 1-9 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.157 AND has_annual_incidence_range : 1-9 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.642 AND has_annual_incidence_range : 1-9 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.206 AND has_annual_incidence_range : 1-9 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.426 AND has_annual_incidence_range : 1-9 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.267 AND has_annual_incidence_range : 1-9 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.481 AND has_annual_incidence_range : 1-9 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.365 AND has_annual_incidence_range : 1-9 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.154 AND has_annual_incidence_range : 1-9 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.471 AND has_annual_incidence_range : 1-9 / 1 000 000
Switzerland AND has_annual_incidence_average_value : 0.467 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000
Adenocarcinoma of the liver and intrahepatic biliary tract
Undifferentiated carcinoma of liver and IBT
Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.
Austria AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000
Estonia AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000
Latvia AND has_annual_incidence_average_value : 0.049 AND has_annual_incidence_range : <1 / 1 000 000
Lithuania AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000
Spain AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Squamous cell carcinoma of liver and IBT
Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.
Czech Republic AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Squamous cell carcinoma of liver and intrahepatic biliary tract
Intrahepatic bile duct cystadenocarcinoma
Austria AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Bulgaria AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000
Portugal AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000
Adenocarcinoma of the gallbladder and EBT
A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.
Europe AND has_annual_incidence_average_value : 2.62 AND has_annual_incidence_range : 1-9 / 100 000
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Squamous cell carcinoma of gallblader and EBT
A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.
Croatia AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.124 AND has_annual_incidence_range : 1-9 / 1 000 000
Europe AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000
France AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
ApoA-I deficiency
Familial apoA-I deficiency
Familial hypoalphalipoproteinemia
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Inherited digestive cancer-predisposing syndrome
SAVI
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
STING-associated vasculopathy with onset in infancy
Rare epithelial tumor of small bowel
Rare epithelial tumor of small intestine
NON RARE IN EUROPE: Familial hypobetalipoproteinemia
DSI
GIT
P4Hbeta
PDI
PDIA1
PO4HB
PROHB
collagen prolyl 4-hydroxylase beta
protein disulfide isomerase family A, member 1
protein disulfide isomerase-associated 1
KIAA0755
RIC-4
RIC4
SEC9
SNAP-25
resistance to inhibitors of cholinesterase 4 homolog
msk
myocardial SNF1-like kinase
76P
GCP4
gamma-ring complex protein 76 kDa
gamma-tubulin complex protein 4
RE2
Marshall syndrome with periodic fever
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
SCEH
short chain enoyl-CoA hydratase
nNOS
Hypopigmentation-deafness syndrome
Hypopigmentation-hearing loss syndrome
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
DAN
deadenylation nuclease
ESSS
NP17.3
Np15
complex I NP17.3 subunit
NADH:ubiquinone oxidoreductase subunit B11
IGNT
Ii blood group
NAGCT1
ULG3
unassigned linkage group 3
glucosaminyl (N-acetyl) transferase 2 (I blood group)
A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.
A rare primary immunodeficiency, without an associated lymphocyte deficit, characterized by impaired neutrophil maturation and/or function, associated with severe infections, diverse comorbidities, and/or an increased risk of leukemic transformation.
China AND has_point_prevalence_average_value : 25.7 AND has_point_prevalence_range : 1-5 / 10 000
France AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000
Iran, Islamic Republic of AND has_point_prevalence_average_value : 0.077 AND has_point_prevalence_range : <1 / 1 000 000
PHACES syndrome
Pascual-Castroviejo syndrome type 2
A rare infantile hemangioma characterized by the association of anomalies of Posterior fossa brain malformations, segmental infantile large facial or neck Hemangiomas, Arterial anomalies (usually of the head and neck or the arteries supplying the brain), aortic coarctation and other Cardiac anomalies, and Eye abnormalities (acronym PHACE). Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES.
AD hypocalcemia
A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with disproportionately low/normal levels of parathyroid hormone (PTH) and persistent normal or elevated renal calcium excretion.
Denmark AND has_point_prevalence_average_value : 0.161 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_point_prevalence_average_value : 3.9 AND has_point_prevalence_range : 1-9 / 100 000
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Worldwide AND has_birth_prevalence_average_value : 3.0303 AND has_birth_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 3.0303 AND has_point_prevalence_range : 1-9 / 100 000
ALD
X-ALD
X-linked ALD
A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.
Israel AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000
Norway AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000
United States AND has_birth_prevalence_average_value : 2.0639 AND has_birth_prevalence_range : 1-5 / 10 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Creeping myiasis
Cwc24
RNF113
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xp22.3 microdeletion syndrome
CHET9
JJAZ1
KIAA0160
SUZ12 polycomb repressive complex 2 subunit
TAZ
WW domain containing transcription regulator 1
SemE
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Sema-Z2
coll-2
Combined immunodeficiency with childhood-onset Kaposi sarcoma
Combined immunodeficiency with impaired immunity to HHV-8
Combined immunodeficiency with impaired immunity to human herpes virus 8
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
Combined immunodeficiency due to OX40 deficiency
ISCU-related myopathy
Myopathy due to succinate dehydrogenase and aconitase deficiency
Myopathy with exercise intolerance, Swedish type
A rare disorder of energy metabolism characterized clinically by myopathy with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes, succinate dehydrogenase and aconitase.
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Primary immunodeficiency with predisposition to severe viral infection
Serotonergic syndrome
Serotonin storm
Serotonin toxicity
Serotonin toxidrome
A rare neurologic disease characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs) and recreational stimulants.
Primary immunodeficiency with post-MMR vaccine viral infection
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.
Acute tricyclic antidepressant poisoning
A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others.
Acute poisoning by drugs with membrane-stabilizing effect
FK506 binding protein 12-rapamycin associated protein 2
FKBP-rapamycin associated protein
FKBP12-rapamycin complex-associated protein 1
RAFT1
RAPT1
dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
mTOR
mammalian target of rapamycin
rapamycin and FKBP12 target 1
rapamycin associated protein FRAP2
rapamycin target protein
ISLET1
Isl-1
Neurogenic scapuloperoneal amyotrophy, New England type
SPSMA
Scapuloperoneal neuronopathy
A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.
Late-onset SPMD with hyaline bodies
Late-onset scapuloperoneal syndrome, myopathic type
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
X-linked SPMD
X-linked scapuloperoneal syndrome
A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.
X-linked scapuloperoneal muscular dystrophy
SPOAN and SPOAN-related disorder
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
Spastic paraplegia due to partial TFG deficiency
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Autosomal recessive spastic paraplegia type 57
Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
United States AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000
Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.
Vesicourachal diverticulum
Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.
Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis
2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia
Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Kv10.1
eag
eag1
ether-a-go-go 1
h-eag
hEAG
potassium voltage-gated channel subfamily H member 1
APCL
adenomatous polyposis coli like
APC regulator of Wnt signaling pathway 2
CALDAG-GEFI
calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I
GATD5
GATD5A
GL009
CD182
CMKAR2
LAG1
UOG1
KIAA1518
SIP
steroid receptor coactivator interacting protein
SLC53A1
SYG1
solute carrier family 53 (phosphate exporter), member 1
xenotropic and polytropic retrovirus receptor 1
MZIP4
Spo22
TGC1
TSGA3
ZIP4 homolog (S. cerevisiae)
ZIP4H
GABA transporter 1
GABATHG
GABATR
GAT-1
GAT1
Sodium- and chloride-dependent GABA transporter 1
hGAT-1
ACZ
KIAA0559
aczonin
IL17-RL
CGI-PDE
cGMP-inhibited 3',5'-cyclic phosphodiesterase A
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
Normosmic congenital hypogonadotropic hypogonadism
HELO1
LAP1B
LAP1C
lamina associated polypeptide 1B
threonine tRNA ligase 2, mitochondrial
threonyl-tRNA synthetase 2, mitochondrial
HOIL-1-interacting protein
HOIP
Paul
ZIBRA
FANCT
HSPC150
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
Netherlands AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
A rare developmental disorder of the ciliopathy group characterized by oral, facial and digital malformations associated with microcephaly and cerebral malformations such as corpus callosum agenesis and vermis hypoplasia with molar tooth sign. Oral manifestations include gingival frenulae, lingual hamartomas, cleft/lobulated tongue and a cleft palate. Facial features can include telecanthus and an upslanting palpebral fissures. Digital malformations encompass hands postaxial polydactyly and duplication of the hallux.
ACT35
CD134
OX40
MNADK
mitochondrial NAD kinase
C2 domain containing 3 centriole elongation regulator
ELP79
EMAP
HuEMAP
STAT113
signal transducer and activator of transcription 2
ATC2
CRN
Lrp4
PRSC
TMPRSS10
DCDC2A
KIAA1154
NPHP19
nephronophthisis 19
LSM16
LSM16 homolog (EDC3, S. cerevisiae)
YJEFN2
SOS Ras/Rho guanine nucleotide exchange factor 2
Alpha-MPP
KIAA0123
MAS2
peptidase, mitochondrial processing subunit alpha
PI4K-ALPHA
phosphatidylinositol 4-kinase III alpha
phosphatidylinositol 4-kinase IIIa
phosphatidylinositol 4-kinase IIIα
pi4K230
PRO180
WWFQ154
DNA damage regulated autophagy modulator 2
COX25
HSPC009
MITRAC12
hCOA3
PXYLT2
XT-II
protein xylosyltransferase 2
BM-40
ONT
cysteine-rich protein
secreted protein acidic and rich in cysteine
secreted protein acidic and cysteine rich
BAF180
PB1
SMARCH1
Rare genetic autonomic nervous system disorder
OBSOLETE: HI syndrome
OBSOLETE: Hypomelanosis of Ito
OBSOLETE: Pigmentary mosaicism, Ito type
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Hypopigmentation of the skin
Familial Gigantiform cementoma
Multiple ossifying fibroma
A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.
LUTO
A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
EPM7
MEAK
Myoclonus epilepsy and ataxia due to potassium channel mutation
PME type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
Progressive myoclonus epilepsy type 7
A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.
SLC59A1
sodium-dependent LPC symporter 1
sodium-dependent lysophosphatidylcholine symporter 1
MFSD2 lysolipid transporter A, lysophospholipid
RSP3
Genetic otorhinolaryngological malformation
OBSOLETE: Congenital absence of toes
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic limb reduction defect
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Proximal del(3)p(25.3) syndrome
Proximal monosomy 3p25.3 syndrome
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
CIDEC-related FPLD
FPLD5
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.
CIDEC-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.
LIPE-related familial partial lipodystrophy
Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.
RNase H1
JBTS23
Talpid3
A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.
Short stature-advanced bone age-early-onset osteoarthritis syndrome
OBSOLETE: ACAN-related skeletal dysplasia
CMT2 due to TFG mutation
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Lethal neonatal rigidity-multifocal seizure syndrome
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.
Lethal neonatal spasticity-epileptic encephalopathy syndrome
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
COG2-related congenital disorder of glycosylation
A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Ruijs-Aalfs syndrome
A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.
Progeroid features-hepatocellular carcinoma predisposition syndrome
CAID syndrome
Chronic atrial dysrhythmia-intestinal motility disorder
A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.
Chronic atrial and intestinal dysrhythmia syndrome
RI-CMT type D
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
HPP
Phosphoethanolaminuria
Rathbun disease
A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.
China AND has_point_prevalence_average_value : 0.0208 AND has_point_prevalence_range : <1 / 1 000 000
5q23 microdeletion syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.
Contractures-developmental delay-Pierre Robin syndrome
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intellectual disability-loss of expressive language-facial dysmorphism syndrome
SETBP1 haploinsufficiency disorder
SETBP1-HD
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
ALPS due to CTLA4 haploinsuffiency
CHAI
CTLA-4 haploinsufficiency with autoimmune infiltration disease
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
NLRC4-related MAS
NLRC4-related autoinflammatory syndrome with MAS
NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
NLRC4-related infantile enterocolitis-autoinflammatory syndrome
NLRC4-related macrophage activation syndrome
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
THBD-related bleeding disorder
THBD-related coagulopathy
Thrombomodulin-related coagulopathy
A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.
Thrombomodulin-related bleeding disorder
CAGSSS
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.
Microcephalic primordial dwarfism-insulin resistance syndrome
A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.
Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Retinal dystrophy-juvenile cataract-short stature syndrome
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
CID-MIA/early-onset IBD
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
Combined immunodeficiency-multiple intestinal atresia
A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
PXE-like syndrome with retinitis pigmentosa
A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
JPO1
LSH
PASG
SALNR
SMARCA6
SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
Senescence Associated Long Non-coding RNA
proliferation-associated SNF2-like protein
E1k
KGD1
OGDC-E1
OGDH2
ATF6A
ATP6alpha
activating transcription factor 6 alpha
CAP102
alpha-E-catenin
OSC
Oxidosqualene-lanosterol cyclase
Mitochondrial outer membrane protein
APPL
DCC-interacting protein 13-alpha
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.
PHKD3
phosphorylase kinase subunit delta 3
prepro-calmodulin 3
FSAP
HABP
HGFAL
PHBP
factor VII activating protein
plasma hyaluronan binding protein
Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
CD16 deficiency
A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
OBSOLETE: MYH7-related late-onset SPMD
OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal dominant myosin storage myopathy
OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy
PP2C-DELTA
Wip1
protein phosphatase 2C, delta isoform
wild-type p53-induced phosphatase 1
protein phosphatase, Mg2+/Mn2+ dependent 1D
BWR1A
ITM
TSSC5
imprinted multi-membrane-spanning polyspecific transporter-like gene 1
organic cation transporter like 2
KBF1
NF-kB1
NF-kappaB
NFKB-p50
NFkappaB
Nuclear factor NF-kappa-B p105 subunit
MITA
MPYS
NET23
STING
endoplasmic reticulum IFN stimulator
stimulator of interferon genes
stimulator of interferon response cGAMP interactor 1
A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.
Ketoacidosis due to monocarboxylate transporter-1 deficiency
POLZ
REV3
polymerase, DNA, zeta
REV3 like, DNA directed polymerase zeta catalytic subunit
A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.
RARS-related autosomal recessive hypomyelinating leukodystrophy
Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.
PCNA-related progressive neurodegenerative photosensitivity syndrome
A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.
STAT3-related early-onset multisystem autoimmune disease
FAR1 deficiency
PFCRD
Peroxisomal fatty acyl-CoA reductase 1 disorder
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.
Severe autosomal recessive macrothrombocytopenia
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
PERM
A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.
Progressive encephalomyelitis with rigidity and myoclonus
Mahvash disease
A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.
A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.
Uteroplacental vascular insufficiency
A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others.
Worldwide AND has_point_prevalence_average_value : 33.0 AND has_point_prevalence_range : 1-5 / 10 000
Childhood AIS
Childhood arterial ischemic stroke
Pediatric AIS
A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.
NAE
Necrolytic acral erythema
A rare skin disease characterized initially by erythematous patches with superficial necrosis, at later stages by hyperkeratotic plaques with a rim of dusky erythema, of exclusively acral distribution with a predilection for the lower extremities, and universal association with hepatitis C virus infection. Patients typically experience pruritus or pain. Serum zinc levels may or may not be decreased, although oral zinc supplementation often improves the condition.
Zinc-responsive necrolytic acral erythema
Chronic obstetric brachial plexus injury
Chronic obstetric brachial plexus palsy
Non-recovering OBPI
Non-recovering OBPL
A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.
Non-recovering obstetric brachial plexus lesion
EMARDD
A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
KCNQ2-DEE
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
Worldwide AND has_cases/families_value : 11.0 (Family(ies))
KCNQ2-related developmental and epileptic encephalopathy
Leukocyte chemotactic factor-2 amyloidosis
A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.
Apolipoprotein A-IV amyloidosis
A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.
Beta2-microglobulinic amyloidosis
Familial cerebral amyloid angiopathy
ITM2B-related amyloidosis
ITM2B-related cerebral amyloid angiopathy
A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.
Cutaneous PAN
Cutaneous periarteritis nodosa
Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.
Primary PAN
Primary periarteritis nodosa
Secondary PAN
Secondary periarteritis nodosa
Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).
Single-organ PAN
Single-organ periarteritis nodosa
Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.
Systemic PAN
Systemic periarteritis nodosa
Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Autosomal recessive severe congenital neutropenia
Fatal congenital hypertrophic cardiomyopathy due to GSD
Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Croupous bronchitis
Fibrinous bronchitis
Pseudo-membranous bronchitis
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
Italy AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic posterior hypospadias
Congenital CNIII lesion
Congenital third cranial nerve palsy
A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.
Benign congenital sixth cranial nerve palsy
Congenital CNVI palsy
A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.
WD40-repeat protein upregulated in HCC
WDRPUH
cilia and flagella associated protein 52
P73
Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
NSTI
A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.
Interstitial lung disease due to surfactant protein C deficiency
A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis with hepatic involvement
Interstitial lung and liver disease
PAP, Reunion island type
Pulmonary alveolar proteinosis, Reunion island type
A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
FCCTX
A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes.
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
Isolated SHPK deficiency
A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Straatsma syndrome
OBSOLETE: Extensive peripapillary myelinated nerve fibers
CHR-RPE
Combined hamartoma of the retina and RPE
A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.
Combined hamartoma of the retina and retinal pigment epithelium
A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.
A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.
Worldwide AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000
Bradbury-Eggleston syndrome
Idiopathic orthostatic hypotension
PAF
Pure dysautonomia
Pure idiopatic dysautonomia
A rare sporadic neurodegenerative disease characterized by slowly progressive symptoms of orthostatic hypotension (OH), and other symptoms of generalised dysautonomia related to the impairment of the sympathetic component of the autonomic nervous system.
CGI-151
KIAA0992
SIH002
palladin, cytoskeletal associated protein
CNG2
OCNC1
OCNCALPHA
OCNCa
OCNCalpha
cyclic nucleotide gated channel subunit alpha 2
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal recessive isolated optic atrophy
OBSOLETE: Autosomal recessive optic atrophy, OPA9 type
KIAA1870
Early-onset posterior subcapsular cataract
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
Australia AND has_birth_prevalence_average_value : 35.4 AND has_birth_prevalence_range : 1-5 / 10 000
Australia AND has_point_prevalence_range : 1-5 / 10 000
Bahrain AND has_birth_prevalence_average_value : 33.7 AND has_birth_prevalence_range : 1-5 / 10 000
Bahrain AND has_point_prevalence_range : 1-5 / 10 000
Bangladesh AND has_birth_prevalence_average_value : 76.9 AND has_birth_prevalence_range : 6-9 / 10 000
Bosnia and Herzegovina AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000
Bosnia and Herzegovina AND has_point_prevalence_range : 1-5 / 10 000
Brazil AND has_annual_incidence_average_value : 97.0873 AND has_annual_incidence_range : 6-9 / 10 000
Brazil AND has_birth_prevalence_average_value : 73.35 AND has_birth_prevalence_range : 6-9 / 10 000
China AND has_birth_prevalence_average_value : 49.1 AND has_birth_prevalence_range : 1-5 / 10 000
China AND has_point_prevalence_range : 1-5 / 10 000
Cyprus AND has_birth_prevalence_average_value : 55.5 AND has_birth_prevalence_range : 1-5 / 10 000
Czech Republic AND has_birth_prevalence_average_value : 34.76 AND has_birth_prevalence_range : 1-5 / 10 000
Denmark AND has_birth_prevalence_average_value : 29.4 AND has_birth_prevalence_range : 1-5 / 10 000
Estonia AND has_birth_prevalence_average_value : 35.0 AND has_birth_prevalence_range : 1-5 / 10 000
Estonia AND has_point_prevalence_range : 1-5 / 10 000
Europe AND has_birth_prevalence_average_value : 38.0 AND has_birth_prevalence_range : 1-5 / 10 000
France AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
Germany AND has_birth_prevalence_average_value : 30.2 AND has_birth_prevalence_range : 1-5 / 10 000
Greece AND has_birth_prevalence_average_value : 57.0 AND has_birth_prevalence_range : 6-9 / 10 000
Iran, Islamic Republic of AND has_birth_prevalence_average_value : 150.0 AND has_birth_prevalence_range : >1 / 1000
Ireland AND has_birth_prevalence_average_value : 45.0 AND has_birth_prevalence_range : 1-5 / 10 000
Italy AND has_birth_prevalence_average_value : 45.5 AND has_birth_prevalence_range : 1-5 / 10 000
Latvia AND has_birth_prevalence_average_value : 15.5 AND has_birth_prevalence_range : 1-5 / 10 000
Latvia AND has_point_prevalence_range : 1-5 / 10 000
Lebanon AND has_birth_prevalence_average_value : 54.8 AND has_birth_prevalence_range : 1-5 / 10 000
Mexico AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000
New Zealand AND has_birth_prevalence_average_value : 36.0 AND has_birth_prevalence_range : 1-5 / 10 000
New Zealand AND has_point_prevalence_range : 1-5 / 10 000
Pakistan AND has_birth_prevalence_average_value : 62.5 AND has_birth_prevalence_range : 6-9 / 10 000
Poland AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000
Specific population AND has_birth_prevalence_average_value : 37.3 AND has_birth_prevalence_range : 1-5 / 10 000
Taiwan, Province of China AND has_birth_prevalence_average_value : 50.2 AND has_birth_prevalence_range : 1-5 / 10 000
Thailand AND has_birth_prevalence_average_value : 16.0 AND has_birth_prevalence_range : 1-5 / 10 000
Thailand AND has_point_prevalence_range : 1-5 / 10 000
Turkey AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000
Turkey AND has_point_prevalence_range : 1-5 / 10 000
United Arab Emirates AND has_birth_prevalence_average_value : 63.7 AND has_birth_prevalence_range : 6-9 / 10 000
United Kingdom AND has_birth_prevalence_average_value : 57.0 AND has_birth_prevalence_range : 6-9 / 10 000
United States AND has_birth_prevalence_range : 1-5 / 10 000
United States AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000
Heavy chain amyloidosis
A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.
SRC1 and TIF2-associated modulatory protein
STAMP
tubulin polyglutamylase TTLL5
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
Non-specific early-onset epileptic encephalopathy
KCa3.1
hIKCa1
hKCa4
hSK4
intermediate conductance calcium-activated potassium channel
small conductance calcium-activated potassium channel 4
potassium calcium-activated channel subfamily N member 4
NUP84
nuclear pore complex protein Nup107
CD16a
Fc gamma receptor IIIa
FcGRIIIA
FcgammaRIIIa
DALRD1
arginine tRNA ligase 1, cytoplasmic
Porphyria cutanea tarda type I
Porphyria cutanea tarda type II
A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype).
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.
CSCR
A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached.
A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.
Hypothalamic adipsic hypernatraemia syndrome
Lymphoplasmacytic lymphoma without Immunoglobulin M production
A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia.
Lymphoplasmacytic lymphoma without IgM production
MHAC
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
NMC
A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.
Worldwide AND has_cases/families_value : 310.0 (Case(s))
Worldwide AND has_point_prevalence_average_value : 2.0E-4 AND has_point_prevalence_range : <1 / 1 000 000
Puerperal psychosis
A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.
Spontaneous cerebrospinal fluid leak
A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.
Worldwide AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
Classic SMS
Classic SPS
Classic stiff man syndrome
X-linked dominant erythropoietic protoporphyria
X-linked dominant protoporphyria
XLDPP
XLPP
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.
Familial orthostatic tachycardia due to norepinephrine transporter deficiency
Orthostatic intolerance due to NET deficiency
POTS due to NET deficiency
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
Postural orthostatic tachycardia syndrome due to NET deficiency
OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
HIV-related cancer
A rare neoplastic disease characterized by occurrence in association with human immunodeficiency virus (HIV) infection. Kaposi sarcoma, aggressive B-cell lymphomas, and invasive cervical cancer are considered AIDS-defining cancers, while a variety of other cancers are known to be related to HIV, including Hodgkin lymphoma, hepatocellular carcinoma, and lung, anal, oral cavity and oropharyngeal, vulvar, and penile cancer. The majority of cancers in AIDS patients are associated with co-infection with oncogenic viruses, such as Epstein-Barr virus, human herpesvirus 8, and human papillomavirus.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using HIV-associated cancer
OBSOLETE: HIV-related oropharyngeal cancer
OBSOLETE: HIV-related hepatocellular carcinoma
OBSOLETE: HIV-related vulvovaginal cancer
OBSOLETE: HIV-related Non-Hodgkin lymphoma
Focal stiff-person syndrome
Stiff leg syndrome
A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin.
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
Familial nonpolyposis colon cancer
Familial nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer
A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.
DNAJB2-related CMT2
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.
DNAJB2-related Charcot-Marie-Tooth disease type 2
Congenital nephrosis-cerebral ventriculomegaly syndrome
VMCKD
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.
MFDA
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.
Mandibulofacial dysostosis with alopecia
Hypotrichosis, Marie Unna type
MUHH
Marie Unna congenital hypotrichosis
A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
Monosomy 11q22.2q22.3
A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.
COXPD23
A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.
Combined oxidative phosphorylation defect type 23
A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.
46,XX ovarian dysgenesis-short stature syndrome
Monosomy 20q11
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Cerebellofaciodental syndrome
A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.
CHOPS syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CIDE-3
Fsp27
cell death inducing DFFA like effector c
COPA syndrome
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
Autoimmune interstitial lung disease-arthritis syndrome
SPG73
A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Autosomal dominant spastic paraplegia type 73
HSL
Kv3.1
potassium voltage-gated channel subfamily C member 1
PLACK syndrome
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
BIR1
G protein-activated inward rectifier potassium channel 2
GIRK2
KATP2
Kir3.2
hiGIRK2
potassium inwardly rectifying channel subfamily J member 6
Idiopathic phalangeal acroosteolysis
A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).
COXPD24
Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.
Combined oxidative phosphorylation defect type 24
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II
Evans syndrome associated with primary immunodeficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TRIANGLE disease
A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.
Europe AND has_point_prevalence_average_value : 0.97 AND has_point_prevalence_range : 1-9 / 1 000 000
CFAP116
FAP116
MIP-T3
MIPT3
microtubule interacting protein that associates with TRAF3
HUMPMKI
PMK
PMKA
MPD
diphosphomevalonate decarboxylase
mevalonate pyrophosphate decarboxylase
farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase
BRCA1-associated protein required for ATM activation protein 1
COX6AL
cytochrome c oxidase subunit VIa liver isoform
APOP-1
MGC2562
apoptogenic protein 1
ARSDR1
MDT1
SDR7C1
androgen-regulated short-chain dehydrogenase/reductase 1
short chain dehydrogenase/reductase family 7C, member 1
CARK
MMS21
NSE2
ZMIZ7
zinc finger, MIZ-type containing 7
NSE2 SUMO ligase component of SMC5/6 complex
isoleucine tRNA ligase 2, mitochondrial
isoleucyl-tRNA synthetase 2, mitochondrial
CLAN
CLAN1
CLANA
CLANB
CLANC
CLAND
CLR2.1
NOD-like receptor C4
ipaf
nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4
BRAM1
BS69
KIAA0042
NY-BR-85
DNA damage-targeting VCP (p97) adaptor
DVC1
Spartan
SprT-like domain at the N terminus
ribose 5-phosphate epimerase
SHK
A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.
K-Cl cotransporter 2
KCC2
KIAA1176
hKCC2
Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.
Syndromic autoimmune enteropathy due to LRBA deficiency
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
LEM domain containing 7
LEM-domain protein 4
LEMD7
Lem4
ankyrin repeat and LEM domain containing 2
LGMD due to POMK deficiency
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Limb-girdle muscular dystrophy due to POMK deficiency
CPD
Cupidin
DFNA68
HOMER-2
HOMER-2A
HOMER-2B
Vesl-2
DIPB
MC7
MGCR1
MGCR1-PEN
probable tumor suppressor protein MN1
MN1 proto-oncogene, transcriptional regulator
A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin.
Kv1.2
potassium voltage-gated channel subfamily A member 2
EEF1AL
HS1
eukaryotic translation elongation factor 1 alpha 2
GGR
AGM1
PAGM
acetylglucosamine phosphomutase
phosphoacetylglucosamine mutase
PKACg
protein kinase cAMP-activated catalytic subunit gamma
SDR10E1
short chain dehydrogenase/reductase family 10E, member 1
Marchiafava-Micheli disease
PNH
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
United Kingdom AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 3.81 AND has_point_prevalence_range : 1-9 / 100 000
PMCA2
plasma membrane Ca2+ pump 2
plasma membrane calcium-transporting ATPase 2
ATPase plasma membrane Ca2+ transporting 2
Primary immunodeficiency with multifaceted aberrant lymphoid immunity
A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.
CID due to DOCK2 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency
A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.
Combined immunodeficiency due to DOCK2 deficiency
AgP
Juvenile periodontitis
Susceptibility to localized juvenile periodontitis
A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.
Autosomal dominant spastic paraplegia type 9A
AD-SPG9B
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.
Autosomal dominant spastic paraplegia type 9B
AR-SPG9B
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.
Autosomal recessive spastic paraplegia type 9B
A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.
A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.
KTOC
Odontogenic keratocystoma
A rare odontogenic tumor characterized by an unilocular or multilocular cyst most commonly located in the posterior body and lower ramus of the mandible, often surrounding the crown of the third molar. Histopathologically, the lesion shows a lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. Patients may be asymptomatic or present with local infection and/or signs and symptoms of mass effect. Recurrence is rare after complete surgical removal. Some patients have multiple cysts (metachronous or synchronous), especially in the context of nevoid basal cell carcinoma syndrome (Gorlin syndrome).
A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).
Mitochondrial pyruvate carrier deficiency
Cortical visual impairment
A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare hereditary hemochromatosis
A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.
Biological anomaly without phenotypic characterization
PPAP
Polymerase proofreading-related adenomatous polyposis
Polymerase proofreading-related polyposis
Isolated neck extensor myopathy
A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
TACH syndrome
Tremor-ataxia-central hypomyelination syndrome
COXPD25
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.
Combined oxidative phosphorylation defect type 25
A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
CMT2V
Hereditary adult-onset painful axonal polyneuropathy
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.
Autosomal dominant Charcot-Marie-Tooth disease type 2V
A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.
Progressive scapulohumeroperoneal distal myopathy
A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.
Partial duplication of chromosome 19p
Partial trisomy of chromosome 19p
Partial trisomy of the short arm of chromosome 19
Partial duplication of the short arm of chromosome 19 syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
China AND has_point_prevalence_average_value : 6.46 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_annual_incidence_average_value : 6.25 AND has_annual_incidence_range : 1-9 / 100 000
Europe AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000
CDG syndrome type Iz
CDG-Iz
CDG1Z
Carbohydrate deficient glycoprotein syndrome type Iz
Congenital disorder of glycosylation type 1z
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
Zika virus infection
Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.
Brazil AND has_annual_incidence_average_value : 58.8 AND has_annual_incidence_range : 1-5 / 10 000
Brachyolmia, Hobaek/Toledo type
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Lichtenstein-Knorr syndrome
Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
SCAR19
A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.
Progressive autosomal recessive ataxia-deafness syndrome
A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.
Isolated focal non-epidermolytic palmoplantar keratoderma
A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.
Regressive spondylometaphyseal dysplasia
Extrathoracic heart
A rare congenital non-syndromic heart malformation characterized by life-threatening complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.
ALRP
CVARP
MCARP
APC-binding protein EB1
EB1
EB2
RP1
microtubule associated protein RP/EB family member 2
OBSOLETE: Familial infantile gigantism due to a point mutation
OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using X-linked acrogigantism
OBSOLETE: X-linked acrogigantism due to a point mutation
M40
OK/SW-cl.56
Tubb5
beta1-tubulin
class I beta-tubulin
OBSOLETE: Familial infantile gigantism due to Xq26 microduplication
OBSOLETE: Familial infantile gigantism due to dup(X)q(26)
OBSOLETE: X-LAG due to dup(X)q(26)
OBSOLETE: X-linked acrogigantism due to Xq26 microduplication
HMT
KIAA0790
SH3D6A
APOER
CD91
LRP1A
transforming growth factor-β receptor type V
transforming growth factor-alpha receptor type V
transforming growth factor-ß receptor type V
CD120b
TNF-R-II
TNF-R75
TNFBR
TNFR80
T-cell-specific surface glycoprotein
ET-A
ETA-R
hET-AR
GTPBG3
MSS1
MTGP1
THDF1
minichromosome maintenance 9 homologous recombination repair factor
hcp-1
mitosin
BRF
TFIIIB90
hBRF
BRF1 general transcription factor IIIB subunit
AF5Q31
ALL1 fused gene from 5q31
MCEF
HEP-COP
alpha-COP
proxenin
xenin
CATL1
CPT1P
CPTIC
TPPII
SLM5
asparagine tRNA ligase 2, mitochondrial (putative)
asparaginyl-tRNA synthetase 2, mitochondrial
cytovillin 2
RNF206
TRIP
ring finger protein 206
CFAP256
GlyBP
JBTS25
ROC22
glycine, glutamate, thienylcyclohexylpiperidine binding protein
JBTS26
KATNIP
GIST
Gastrointestinal stromal sarcoma
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000
Hong Kong AND has_annual_incidence_average_value : 1.82 AND has_annual_incidence_range : 1-9 / 100 000
Hong Kong AND has_point_prevalence_average_value : 14.5 AND has_point_prevalence_range : 1-5 / 10 000
Korea, Republic of AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000
Sweden AND has_point_prevalence_average_value : 12.9 AND has_point_prevalence_range : 1-5 / 10 000
United States AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000
A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).
Bulgaria AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000
Croatia AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000
Czech Republic AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000
Finland AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000
Germany AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000
Ireland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000
Italy AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000
Netherlands AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Norway AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000
Poland AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000
Slovakia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000
Slovenia AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000
United Kingdom AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000
CD191
CKR-1
MIP1aR
NKG2-F
ILAS1-AS1
A-LAP
ARTS-1
ERAAP1
KIAA0525
PILS-AP
adipocyte-derived leucine aminopeptidase
aminopeptidase regulator of TNFR1 shedding
puromycin-insensitive leucyl-specific aminopeptidase
NON RARE IN EUROPE: Primary bile acid malabsorption
A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever.
ANKCLP
SKD3
ankyrin-repeat containing bacterial clp fusion
suppressor of potassium transport defect 3
A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.
A rare disorder due to poisoning caused by toxins in the bite of a venomous snake. Envenoming can also be caused by spraying of venom into the eyes. Depending on venom composition and other factors, consequences range from local tissue damage to potentially life-threatening systemic effects. Severe manifestations include paralysis, bleeding disorders, kidney failure, or permanent disability and limb amputation due to severe local tissue destruction. Children may suffer more severe effects because of their lower body mass. Immediate medical attention, in particular administration of antivenom, is critical.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Fragile X syndrome
OBSOLETE: Symptomatic form of fragile X syndrome in female carriers
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.
A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.
Idiopathic hypertrophic pachymeningitis
A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.
Küttner tumor
A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels.
IgG4-related submandibular gland disease
A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.
IgG4-related eosinophilic angiocentric fibrosis
A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.
NRSF
XBR
neuron-restrictive silencer factor
PIG-Y
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
phosphatidylinositol glycan anchor biosynthesis class Y
NET
norepinephrine transporter
FAM22H
NUT
nuclear protein in testis
FSHRG4
HUNK1
HUNKI
MCAP
chromosome-associated protein
female sterile homeotic related gene 4
mitotic chromosome-associated protein
CNK2
KIAA0902
KSR2
connector enhancer of kinase suppressor of Ras 2
ERdj6
HP58
P58
P58IPK
endoplasmic reticulum DNA J domain-containing protein 6
interferon-induced, double-stranded RNA-activated protein kinase inhibitor
p58(IPK)
protein kinase inhibitor of 58 kDa
DnaJ heat shock protein family (Hsp40) member C3
AMP deaminase deficiency
Myoadenylate deaminase deficiency
A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.
Adenosine monophosphate deaminase deficiency
Heterotaxy
Heterotaxy syndrome
A rare developmental defect during embryogenesis characterized by abnormal arrangement of the thoraco-abdominal organs across the left-right axis of the body. By definition, it does not include situs inversus totalis (total mirror-imagery).
United States AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000
A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.
RAP1
Gem
40S ribosomal protein S15
RIG
S15
homolog of rat insulinoma
insulinoma protein
uS19
Aiolos
A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.
A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished.
A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.
Familial congenital nasolacrimal duct obstruction
75 kDa glucose-regulated protein
GRP75
PBP74
Stress-70 protein, mitochondrial
mortalin
mortalin2
mot-2
mthsp75
heat shock protein family A (Hsp70) member 9
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.
X-linked lissencephaly with abnormal genitalia
Tay syndrome
Trichothiodystrophy type E
Trichothiodystrophy with congenital ichthyosis
Au-Kline syndrome
HNRNPK-related neurodevelopmental disorder
Okamoto syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.
Congenital insensitivity to pain with severe intellectual disability
SCAR17
Spinocerebellar ataxia autosomal recessive type 17
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.
FEOM
A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.
Congenital fibrosis of extraocular muscles
CHED
HOVO2
A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.
FAMIN
fatty acid metabolismimmunity nexus
fatty acid metabolismâimmunity nexus
isocyanic acid synthase
CARD containing molecule enhancing NF-kB
CARD-containing apoptotic signaling protein
CARD-containing proapoptotic protein
CARD-like apoptotic protein
CARMEN
CIPER
CLAP
c-E10
caspase-recruiting domain-containing protein
mE10
A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
Japan AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000
United Kingdom AND has_point_prevalence_average_value : 0.26 AND has_point_prevalence_range : 1-9 / 1 000 000
Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.
Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.
United Kingdom AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000
Incessant infant ventricular tachycardia
A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).
PMA
A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.
A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.
A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.
Adie syndrome
Tonic pupil-tendon areflexia syndrome
A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.
United States AND has_annual_incidence_average_value : 4.7 AND has_annual_incidence_range : 1-9 / 100 000
A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.
Korea, Republic of AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000
A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.
A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. There have been no further description in the literature since 2004.
Worldwide AND has_cases/families_value : 2700.0 (Case(s))
H-type tracheoesophageal fistula
A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.
Australia AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000
Australia AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Benign epithelial tumor of salivary glands
OBSOLETE: Pleomorphic salivary gland adenoma
Acute radiation sickness
A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration.
A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.
Worldwide AND has_cases/families_value : 826.0 (Case(s))
NTHL1-related adenomatous polyposis
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immune dysregulation disease with immunodeficiency
OBSOLETE: Type 1 interferonopathy with immunodeficiency
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.
AGR16
Gpcr13
Ichthyosis bullosa of Siemens
SEI
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.
DNase1 hypersensitivity, chromosome 6, site 1
BLTP5C
KIAA1421
PARK23
bridge-like lipid transfer protein family member 5C
NHE-3
Sodium/hydrogen exchanger 3
COX
COX8-2
COX8L
VIII
VIII-L
Deletion 1p35.2
Monosomy 1p35.2
A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia, and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.
IMNEPD
A rare multisystemic syndrome characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.
Infantile multisystem neurologic-endocrine-pancreatic disease
HSAN1E
HSN1E
Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.
Hereditary sensory neuropathy-deafness-dementia syndrome
Xq28 contiguous gene deletion syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
X-linked myotubular myopathy-abnormal genitalia syndrome
Hereditary SB-NET
Hereditary SI-NET
Hereditary neuroendocrine tumor of small bowel
Small bowel hereditary neuroendocrine tumor
Small intestine hereditary neuroendocrine tumor
A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.
Hereditary neuroendocrine tumor of small intestine
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.
RNF124
URCC
VIP36-like
VIPL
KIAA0208
KIAA0095
nuclear pore complex protein Nup93
KIAA0225
nuclear pore complex protein Nup205
VGR1
CGI-129
SLC54A1
Autosomal congenital ichthyosis, Harlequin type
Ichthyosis congenita, Harlequin type
A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.
GATD4
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.
Autosomal dominant mitochondrial myopathy with exercise intolerance
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Pseudohypoparathyroidism
OBSOLETE: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OBSOLETE: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
PPP1R143
Sodium/hydrogen exchanger 1
protein phosphatase 1, regulatory subunit 143
Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.
SGF
A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.
Invasive candidiasis-deep dermatophytosis syndrome
A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.
Predisposition to invasive fungal disease due to CARD9 deficiency
A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.
RPA1
RPA190
RPO1-4
5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase
DCS-1
DCS1
HINT-5
HINT5
HSL1
HSPC015
histidine triad nucleotide binding protein 5
m7GpppX diphosphatase
COQ4-related neonatal encephalomyopathy
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Arboleda-Tham syndrome
KAT6A syndrome
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
Worldwide AND has_cases/families_value : 76.0 (Case(s))
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
ASCT-1
ASCT1
SATT
alanine/serine/cysteine/threonine transporter
neutral amino acid transporter A
ANOAC
Axonal neuropathy-optic atrophy-cognitive deficit syndrome
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Syndromic sensorineural deafness due to COXPD
Syndromic sensorineural hearing loss due to COXPD
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.
X-linked intellectual disability-short stature-overweight syndrome
CCSK
Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.
OTSCC
Oral tongue squamous cell carcinoma
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Squamous cell carcinoma of the oral cavity
Squamous cell carcinoma of the oral tongue
A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.
X-linked intellectual disability-hypotonia-movement disorder syndrome
EPM9
PME type 9
Progressive myoclonic epilepsy due to LMNB2 deficiency
Progressive myoclonus epilepsy type 9
A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).
HJS1
PPP2R5D-related Houge-Janssens syndrome
PPP2R5D-related neurodevelopmental disorder
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.
HJS2
PPP2R1A-related Houge-Janssens syndrome
PPP2R1A-related neurodevelopmental disorder
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Martsolf-like syndrome
A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
MMDS4
A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.
Multiple mitochondrial dysfunctions syndrome type 4
FMLP
FPR
N-formylpeptide receptor
fMet-Leu-Phe receptor
FTDCR1B
HSNIK
NIK
serine/threonine protein-kinase
mitogen-activated protein kinase kinase kinase 14
KIAA0209
MINDS syndrome
Smith-Kingsmore syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
DFNA71
KIAA0856
RC3
rabconnectin 3
BIT1
Bcl-2 inhibitor of transcription
CFAP37
CGI-147
PTH2
cilia and flagella associated protein 37
hDrn1
human Dbr1 associated ribonuclease 1
BP1
DLX8
CHC22
CLH22
CLTD
CSBP
TUNP
transformation upregulated nuclear protein
heterogeneous nuclear ribonucleoprotein K
RHOM1
TTG1
ZNF912
NTH1
OCTS3
KIAA0545
SPAR3
spine-associated RapGAP 3
spineâassociated RapGAP 3
signal induced proliferation associated 1 like 3
HNT
hindsight homolog (drosophila)
ras responsive element binding protein 1
KIAA0079
NON RARE IN EUROPE: Specific language impairment
Idiopathic SCAD
A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.
Idiopathic spontaneous coronary artery dissection
Polymorphous hemangioendothelioma
A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.
A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.
Dabska tumor
PILA
Primary intralymphatic angioendothelioma
A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.
Papillary intralymphatic angioendothelioma
Congenital haemangioma
Haemangioma congénitale
Partially involuting congenital haemangioma
A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.
Partially involuting congenital hemangioma
Mixed cystic lymphangioma
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.
Mixed macro and microcystic lymphatic malformation
SCA41
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
SCA42
A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare vascular tumor
OBSOLETE: Vascular tumor with associated anomalies
Rare capillary malformation with associated anomalies
Common cystic lymphatic malformation
A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.
OBSOLETE: Primary lymphedema with associated anomalies
Rare vascular malformation of major vessels
TF2E2
TFIIE beta subunit
TFIIE-B
Transcription initiation factor IIE subunit beta
general transcription factor IIE subunit 2
APE
Akt-phosphorylation enhancer
GIV
GRDN
Galpha-interacting vesicle-associated protein
HkRP1
girders of actin filaments
girdin
AOA4
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.
CALLA
CD10
NEP
enkephalinase
neprilysin
neutral endopeptidase
SED, Stanescu type
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.
Spondyloepiphyseal dysplasia, Stanescu type
SPG75
A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.
Autosomal recessive spastic paraplegia type 75
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
RPL10-related X-linked intellectual disability
RPL10-related neurodevelopmental disorder
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
7q36.3 microduplication syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
BCG1
HCA10
JCL-1
MAGE-D2
MAGED
MGC8386
breast cancer associated gene 1
hepatocellular carcinoma associated protein
hepatocellular carcinoma-associated protein HCA10
melanoma-associated antigen D2
MYOD
PUM
bHLHc1
myoblast determination protein 1
BM28
DFNA70
KIAA0030
cdc19
mitotin
minichromosome maintenance complex component 2
DFNA66
Endolyn
MGC-24
MGC-24v
MUC-24
Sialomucin core protein 24
deafness, autosomal dominant 66
multi-glycosylated core protein 24
Cdc14A1
Cdc14A2
DFNB105
cdc14
SAS
sialic acid synthase
Immunodeficiency due to a complement cascade component deficiency
Immunodeficiency due to a complement regulatory deficiency
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal systemic lupus erythematosus
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Primary lymphedema
Genetic hemangiolymphangioma
Genetic complex vascular malformation with associated anomalies
NON RARE IN EUROPE: Juvenile idiopathic scoliosis
Lethal multiple congenital anomalies/dysmorphic syndrome
ADSL deficiency
Adenylosuccinase deficiency
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
QK3
Sterol C5-desaturase deficiency
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase
CGI-92
ISA2
DNA repair protein XRCC4
X-ray repair, complementing defective, repair in Chinese hamster
hXRCC4
MRP-S
RP-S7
RPMS7
uS7m
PP2A-Aalpha
PP2AA
PR65A
Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
protein phosphatase 2, 65kDa regulatory subunit A
protein phosphatase 2A structural subunit A, alpha isoform
protein phosphatase 2A, regulatory subunit A, alpha isoform
protein phosphatase 2 scaffold subunit Aalpha
B56D
B56delta
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
protein phosphatase 2 regulatory subunit B'delta
THO2
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
transmembrane anterior posterior transformation 1
KIAA1972
ring finger and SPRY domain containing 1
CAMP
CHAMP
chromosome alignment-maintaining phosphoprotein
chromosome alignment maintaining phosphoprotein 1
AFG2
ATPase family gene 2 homolog (S. cerevisiae)
SPAF
DNA polymerase alpha 1, catalytic subunit
protein phosphatase 1 regulatory subunit 15B
OVCA1
ovarian tumor suppressor candidate 1
S-MAG
SIGLEC-4A
SIGLEC4
SIGLEC4A
sialic acid binding Ig-like lectin 4A
transient receptor potential cation channel subfamily C member 3
Cav3.1
NBR13
calcium voltage-gated channel subunit alpha1 G
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild.
Europe AND has_annual_incidence_average_value : 15.0 AND has_annual_incidence_range : 1-5 / 10 000
Europe AND has_point_prevalence_average_value : 16.6 AND has_point_prevalence_range : 1-5 / 10 000
Italy AND has_annual_incidence_average_value : 9.9 AND has_annual_incidence_range : 1-9 / 100 000
KIAA2005
sterile alpha motif domain containing 9 like
CCP5
cytosolic carboxypeptidase 5
NERCC
NERCC1
Nek8
FRP-4
FRPHE
FRZB-2
frpHE
KMT8C
PRISM
KIAA0551
MAP4K7
PCNSL
Primary CNS lymphoma
Primary brain lymphoma
Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.
Sweden AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000
United States AND has_annual_incidence_average_value : 0.44 AND has_annual_incidence_range : 1-9 / 1 000 000
DSPG1
SLRR1A
biglycan proteoglycan
FZD11
frizzled family member 11
G2AN
GIIA
GIIalpha
GluII
KIAA0088
mannosyl-oligosaccharide alpha-1,3-glucosidase
neutral alpha-glucosidase AB
CLC4
ClC-4
human CDC45
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
NON RARE IN EUROPE: Adrenal incidentaloma
Familial rectal pain
A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.
KIAA1843
UNC-80
LPA4
P2RY9
P2Y5-LIKE
P2Y9
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.
United States AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000
RSPH16A
TSARG6
radial spoke 16 homolog A (Chlamydomonas)
DnaJ heat shock protein family (Hsp40) member B13
outer dynein arm docking complex subunit 4
CITK
CRIK
KIAA0949
STK21
serine/threonine kinase 21
citron rho-interacting serine/threonine kinase
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
Spastic paraplegia-severe developmental delay-epilepsy syndrome
SBIDDS
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.
Short stature-brachydactyly-obesity-global developmental delay syndrome
NON RARE IN EUROPE: Infantile capillary hemangioma
LEM2
NET25
lamina-associated polypeptide-emerin-MAN1 domain containing 2
DYRK1A syndrome
A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndrome due to a point mutation
Intellectual disability syndrome due to a DYRK1A point mutation
Verrucous haemangioma
Verrucous hemangioma
A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting.
Cutaneovisceral angiomatosis-thrombocytopenia syndrome
MLT
Multifocal lymphangioendotheliomatosis with thrombocytopenia
A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.
B-cell expansion with NF-kB and T-cell anergy disease
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.
Catastrophic APS
A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.
A rare renal tumor characterized by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumor) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, hematuria, and/or polycythemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythemia or hematuria. Metanephric stromal tumor typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or hemorrhage.
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.
Poland AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000
A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.
CDG syndrome type IIL
CDG-IIL
CDG2L
Congenital disorder of glycosylation type 2l
Congenital disorder of glycosylation type IIL
A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.
Drug-induced methemoglobinemia
A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.
Worldwide AND has_cases/families_value : 242.0 (Case(s))
Acetaminophen poisoning
A rare intoxication due to a medical product occurring as a result of accidental or intentional overdosing of paracetamol (acetaminophen). Patients may develop gastroenteritis within hours and hepatotoxicity within 24 to 72 hours after ingestion, potentially leading to acute liver injury and liver failure. Possible non-hepatic sequelae include renal failure, thrombocytopenia, pancreatitis, and subendocardial myocyte necrosis. Chronic paracetamol poisoning may be asymptomatic or include all signs and symptoms potentially occurring in acute poisoning.
Iceland AND has_annual_incidence_average_value : 16.0 AND has_annual_incidence_range : 1-5 / 10 000
NON RARE IN EUROPE: Gastric adenocarcinoma
NON RARE IN EUROPE: Adenocarcinoma of stomach
HFZ5
This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare parenchymal liver disease
OBSOLETE: Disorder with acute infantile liver failure
A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.