ORPHA:98497
Genetic peripheral neuropathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic peripheral neuropathy | |
| fr | Neuropathie périphérique génétique | |
| de | Neuropathie, periphere, genetisch bedingte | |
| es | Neuropatía periférica genética | |
| it | Malattia genetica dei nervi periferici | |
| nl | Genetische perifere neuropathie | |
| pt | Neuropatia periférica, genética | |
| pl | Genetyczna neuropatia obwodowa | |
| cs | Geneticky podmíněné periferní neuropatie | |
| uk | Генетично обумовлена периферична нейропатія | |
| zh | 遗传性周围神经系统疾病 | |
| tr | Genetik periferik nöropati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681733 | 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 (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98496Rare peripheral neuropathy
rare neurological diseases
Children (15):
- ORPHA:459033Ataxia-oculomotor apraxia type 4
- ORPHA:166Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
- ORPHA:231013Congenital trigeminal anesthesia
- ORPHA:53739Distal hereditary motor neuropathy
- ORPHA:391384Familial episodic pain syndrome
- ORPHA:2809Familial recurrent peripheral facial palsy
- ORPHA:643Giant axonal neuropathy
- ORPHA:140471Hereditary sensory and autonomic neuropathy
- ORPHA:306577Hereditary sodium channelopathy-related small fibers neuropathy
- ORPHA:35069PLA2G6-related neurodegeneration, infantile-onset
- ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:169464Primary CD59 deficiency
- ORPHA:207015Rare hereditary disease with peripheral neuropathy
- ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1
- ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2
Codes that Orphanet moved or referred to this one:
- ORPHA:2679OBSOLETE: Infantile axonal neuropathy referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 40 / 100 000 | Worldwide | Value and class | Not yet validated | 22961002[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/98497
- This record as JSON: /data/d/98497.json