Hereditary sodium channelopathy-related small fibers neuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sodium channelopathy-related small fibers neuropathy | |
| fr | Neuropathie héréditaire des petites fibres due à une canalopathie sodique | |
| de | Hereditäre Natrium-Ionenkanalkrankheit-assoziierte Small-Fiber-Neuropathie | |
| es | Neuropatía de fibras finas hereditaria ligada a canalopatías de sodio | |
| it | Neuropatia a piccole fibre correlata a canalopatia del sodio ereditaria | |
| nl | Hereditaire natriumkanalopathie-gerelateerde dunnevezelneuropathie | |
| pt | Neuropatia de pequenas fibras relacionada com canalopatia do sódio hereditária | |
| pl | Dziedziczna neuropatia małym włókien związana z kanałopatią sodową | |
| cs | Neuropatie malých vláken související s kanalopatií sodíkových kanálů | |
| uk | Спадкова нейропатія дрібних волокон, повязана з натрієвою каналопатією | |
| zh | 钠离子通道相关小纤维神经病变 | |
| tr | Sodyum kanalopatiye-ilişkili küçük lif nöropatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133020 | NTBT | validated | |
| OMIM | 615551 | BTNT | validated | |
| ICD-10 | G99.1 | NTBT | attributed | not yet validated |
| MONDO | 0017629 | E | validated | |
| UMLS | C5925033 | 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:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN10A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10582 | ENSG00000185313 | 604427 | 3p22.2 | sodium voltage-gated channel alpha subunit 10 | 23115331[PMID] |
| SCN11A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10583 | ENSG00000168356 | 604385 | 3p22.2 | sodium voltage-gated channel alpha subunit 11 | 24776970[PMID] |
| SCN9A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10597 | ENSG00000169432 | 603415 | 2q24.3 | sodium voltage-gated channel alpha subunit 9 | 21698661[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 21698661[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/306577
- This record as JSON: /data/d/306577.json