ORPHA:84093
Hereditary thermosensitive neuropathy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary thermosensitive neuropathy | |
| fr | Neuropathie thermosensible héréditaire | |
| de | Neuropathie, hereditäre thermosensitive | |
| es | Neuropatía termosensible hereditaria | |
| it | Neuropatia termosensibile ereditaria | |
| nl | Erfelijke thermosensitieve neuropathie | |
| pt | Neuropatia termossensitiva hereditária | |
| pl | Dziedziczna neuropatia termowrażliwa | |
| cs | Hereditární termosenzitivní neuropatie | |
| uk | Спадкова термочутлива нейропатія | |
| zh | 遗传性热敏神经病 | |
| tr | Kalıtsal ısıya duyarlı nöropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602107 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.Y | NTBT | index | validated |
| MONDO | 0011197 | E | validated | |
| MeSH | C566575 | E | validated | |
| UMLS | C1865856 | 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 (1):
- ORPHA:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 9191787[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9191787[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/84093
- This record as JSON: /data/d/84093.json