ORPHA:1764
Familial dysautonomia
Synonyms: HSAN3 · Hereditary sensory and autonomic neuropathy type 3 · Hereditary sensory and autonomic neuropathy type III · Riley-Day syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial dysautonomia | HSAN3 · Hereditary sensory and autonomic neuropathy type 3 · Hereditary sensory and autonomic neuropathy type III · Riley-Day syndrome |
| fr | Dysautonomie familiale | HSAN3 · NHSA3 · Neuropathie héréditaire sensitive et autonomique type 3 · Neuropathie héréditaire sensitive et autonomique type III · Syndrome de Riley-Day |
| de | Dysautonomie, familiäre | HSAN3 · Neuropathie, autonome hereditäre sensorische, Typ 3 · Neuropathie, autonome hereditäre sensorische, Typ III · Riley-Day Syndrom |
| es | Disautonomía familiar | HSAN3 · Neuropatía sensitiva autonómica hereditaria tipo 3 · Neuropatía sensitiva autonómica hereditaria tipo III · Síndrome de Riley-Day |
| it | Disautonomia familiare | Neuropatia autonomica e sensoriale ereditaria, tipo 3 · Sindrome di Riley-Day |
| nl | Familiale dysautonomie | Erfelijke sensorische en autonome neuropathie type 3 · Erfelijke sensorische en autonome neuropathie type III · HSAN 3 · Syndroom van Riley-Day |
| pt | Disautonomia familiar | Neuropatia autonómica e sensitiva hereditária tipo 3 · Síndrome Riley-Day |
| pl | Dysautonomia rodzinna | HSAN3 · Zespół Riley'a i Day'a · Dziedziczna neuropatia czuciowa i autonomiczna typu 3 · Dziedziczna neuropatia czuciowa i autonomiczna typu III |
| cs | Familiární dysautonomie | HSAN3 · Hereditární senzorická a autonomní neuropatie, typ III · Rileyův-Dayův syndrom · Riley-Dayův syndrom |
| uk | Сімейна дисавтономія | Спадкова сенсорна та автономна нейропатія типу 3 · Спадкова сенсорна та автономна нейропатія III типу · HSAN3 · Синдром Райлі-Дея |
| zh | 家族性自主神经功能异常 | 遗传性感觉和自主神经病III型 |
| tr | Ailesel disotonomi | HSAN3 · Riley-Day sendromu · Kalıtsal duyusal ve otonom nöropati tip 3 · Kalıtsal duyusal ve otonom nöropati tip III |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223900 | E | validated | |
| ICD-10 | G90.1 | E | specific | validated |
| ICD-11 | 8C21.1 | E | specific | validated |
| MONDO | 0009131 | E | validated | |
| MeSH | D004402 | E | validated | |
| UMLS | C0013364 | E | validated | |
| GARD | 7581 | E | validated | |
| MedDRA | 10039179 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98604Congenital alacrima
rare genetic diseases; rare ophthalmic disorders - ORPHA:448426Genetic primary orthostatic hypotension
rare genetic diseases - ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:182058Primary orthostatic hypotension
rare neurological diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5959 | ENSG00000070061 | 603722 | 9q31.3 | elongator complex protein 1 | 20301359[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 18.5 / 100 000 | Specific population | Value and class | Validated | 27317387[PMID]_3652488[PMID]_4322121[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000522 | Alacrima | |
| HP:0003457 | EMG abnormality | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001510 | Growth delay | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0001265 | Hyporeflexia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0009830 | Peripheral neuropathy | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0200020 | Corneal erosion | |
| HP:0001288 | Gait disturbance | |
| HP:0000822 | Hypertension | |
| HP:0001252 | Hypotonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0002585 | Abnormality of the peritoneum | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0001063 | Acrocyanosis | |
| HP:0010885 | Avascular necrosis | |
| HP:0007957 | Corneal opacity | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100820 | Glomerulopathy | |
| HP:0001100 | Heterochromia iridis | |
| HP:0002902 | Hyponatremia | |
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
| HP:0002797 | Osteolysis | |
| HP:0002757 | Recurrent fractures | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0001649 | Tachycardia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1764
- This record as JSON: /data/d/1764.json