ORPHA:36386
Hereditary sensory and autonomic neuropathy type 1
Synonyms: Hereditary sensory and autonomic neuropathy type I · HSAN1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy type 1 | Hereditary sensory and autonomic neuropathy type I · HSAN1 |
| fr | Neuropathie héréditaire sensitive et autonomique type 1 | HSAN1 · NHSA1 · Neuropathie héréditaire sensitive et autonomique type I |
| de | Neuropathie, autonome hereditäre sensorische, Typ 1 | HSAN1 · Neuropathie, autonome hereditäre sensorische, Typ I |
| es | Neuropatía sensitiva autonómica hereditaria tipo 1 | HSAN1 · Neuropatía sensitiva autonómica hereditaria tipo I |
| it | Neuropatia autonomica e sensoriale ereditaria, tipo 1 | |
| nl | Erfelijke sensorische en autonome neuropathie type 1 | Erfelijke sensorische en autonome neuropathie type I · HSAN 1 |
| pt | Neuropatia autonómica e sensitiva hereditária tipo 1 | Doença de Morvan |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna typu 1 | HSAN1 · Dziedziczna neuropatia czuciowa i autonomiczna typu I |
| cs | Hereditární senzorická a autonomní neuropatie, typ 1 | = en |
| uk | Спадкова сенсорна та вегетативна нейропатія, тип 1 | Спадкова сенсорна та автономна нейропатія I типу · HSAN1 |
| zh | 遗传性感觉和自主神经病变1型 | 遗传性感觉和自主神经病I型 |
| tr | Kalıtsal duyusal ve otonom nöropati tip 1 | HSAN1 · Kalıtsal duyusal ve otonom nöropati tip I |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162400 | BTNT | validated | |
| OMIM | 613640 | BTNT | validated | |
| OMIM | 613708 | BTNT | validated | |
| OMIM | 615632 | BTNT | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C21.0 | E | specific | validated |
| MONDO | 0018213 | E | validated | |
| UMLS | C0020071 | E | validated | |
| GARD | 6635 | 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 (3):
- ORPHA:140474Autosomal dominant hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:352309Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11231 | ENSG00000198513 | 606439 | 14q22.1 | atlastin GTPase 1 | 21194679[PMID] |
| ATL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24526 | ENSG00000184743 | 609369 | 11q13.1 | atlastin GTPase 3 | 24459106[PMID] |
| SPTLC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11277 | ENSG00000090054 | 605712 | 9q22.31 | serine palmitoyltransferase long chain base subunit 1 | 11242114[PMID] |
| SPTLC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11278 | ENSG00000100596 | 605713 | 14q24.3 | serine palmitoyltransferase long chain base subunit 2 | 20920666[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 18348718[PMID] |
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
29 annotations · validated 2021-09-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002270 | Abnormality of the autonomic nervous system | |
| HP:0007078 | Decreased amplitude of sensory action potentials | |
| HP:0002936 | Distal sensory impairment | |
| HP:0002141 | Gait imbalance | |
| HP:0031060 | Impaired ability to dress oneself | |
| HP:0001324 | Muscle weakness | |
| Frequent (79-30%) | ||
| HP:0002460 | Distal muscle weakness | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0000962 | Hyperkeratosis | |
| HP:0007550 | Hypohidrosis or hyperhidrosis | |
| HP:0006937 | Impaired distal tactile sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0009763 | Limb pain | |
| HP:0007021 | Pain insensitivity | |
| HP:0001026 | Penetrating foot ulcers | |
| HP:0001058 | Poor wound healing | |
| HP:0200042 | Skin ulcer | |
| HP:0003376 | Steppage gait | |
| HP:0010834 | Trophic changes related to pain | |
| Occasional (29-5%) | ||
| HP:0012735 | Cough | |
| HP:0003693 | Distal amyotrophy | |
| HP:0100287 | EMG: slow motor conduction | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0002540 | Inability to walk | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0002821 | Neuropathic arthropathy | |
| HP:0002754 | Osteomyelitis | |
| HP:0002756 | Pathologic fracture | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25042817[PMID]_18348718[PMID]_20301564[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36386
- This record as JSON: /data/d/36386.json