ORPHA:140459
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive hereditary demyelinating motor and sensory neuropathy | |
| fr | Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique récessive | |
| de | Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-rezessive | |
| es | Neuropatía desmielinizante sensitivo-motora hereditaria autosómica recesiva | |
| it | Neuropatia motoria e sensoriale demielinizzante ereditaria autosomica recessiva | |
| nl | Autosomaal recessieve erfelijke demyeliniserende motorische en sensorische neuropathie | |
| pt | Neuropatia sensitiva e motora hereditária desmielinizante autossómica recessiva | |
| pl | Autosomalna recesywna dziedziczna demielinizująca neuropatia ruchowa i czuciowa | |
| cs | Autozomálně recesivní hereditární demyelinizační motorická a senzorická neuropatie | |
| uk | Аутосомно-рецесивна спадкова демієлінізуюча моторна та сенсорна нейропатія | |
| zh | 常染色体隐性遗传脱髓鞘性运动和感觉神经病 | |
| tr | Otozomal resesif kalıtsal demiyelinizan motor ve duyusal nöropati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15361 | E | validated | |
| UMLS | C5680677 | 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:476116Demyelinating hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
Children (7):
- ORPHA:64749Charcot-Marie-Tooth disease type 4
- ORPHA:90103Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:64748Dejerine-Sottas syndrome
- ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:686999Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
- ORPHA:453533Polyendocrine-polyneuropathy syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/140459
- This record as JSON: /data/d/140459.json