Hereditary sensory and autonomic neuropathy type 6
Synonyms: HSAN6 · Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 6 | HSAN6 · Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures |
| fr | Neuropathie héréditaire sensitive et autonomique type 6 | Dysautonomie familiale avec contractures · HSAN6 · NHSA6 · Neuropathie héréditaire sensitive et autonomique type VI |
| de | Neuropathie, autonome hereditäre sensorische, Typ 6 | Dysautonomie, familiäre, mit Kontrakturen · HSAN6 · Neuropathie, autonome hereditäre sensorische, Typ VI |
| es | Neuropatía sensitiva autonómica hereditaria tipo 6 | Disautonomía familiar con contracturas · HSAN6 · Neuropatía sensitiva autonómica hereditaria tipo VI |
| it | Neuropatia autonomica e sensoriale ereditaria, tipo 6 | Disautonomia familiare con contratture · HSAN6 |
| nl | Erfelijke sensorische en autonome neuropathie type 6 | Erfelijke sensorische en autonome neuropathie type VI · Familiale dysautonomie met contracturen · HSAN6 |
| pt | Neuropatia sensitiva e autonómica hereditária tipo 6 | Disautonomia familiar com contraturas · HSAN6 |
| pl | Dziedziczna neuropatia zmysłowa i autonomiczna typu 6 6 | HSAN6 · Rodzinna dysautonomia z przykurczami · Dziedziczna neuropatia zmysłowa i autonomiczna typu 6 VI |
| cs | Hereditární senzorická a autonomní neuropatie, typ 6 | Familiární dysautonomie s kontrakturami · HSAN6 |
| uk | Спадкова сенсорна та автономна нейропатія, тип 6 | Сімейна дисавтономія з контрактурами · Спадкова сенсорна та автономна нейропатія VI типу · HSAN6 |
| zh | 遗传性感觉自主神经病6型 | 遗传性感觉自主神经病VI型 |
| tr | Kalıtsal duyusal ve otonomik nöropati tip 6 | HSAN6 · Kontraktürler ile seyreden ailesel disotonomi · Kalıtsal duyusal ve otonom nöropati tip VI |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614653 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0013839 | E | validated | |
| UMLS | C3539003 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DST | Disease-causing germline mutation(s) in | Assessed | HGNC:1090 | ENSG00000151914 | 113810 | 6p12.1 | dystonin | 22522446[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22522446[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314381
- This record as JSON: /data/d/314381.json