ORPHA:140453
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- 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 | Autosomal dominant hereditary demyelinating motor and sensory neuropathy | |
| fr | Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique dominante | |
| de | Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-dominante | |
| es | Neuropatía desmielinizante sensitivo-motora hereditaria autosómica dominante | |
| it | Neuropatia motoria e sensoriale demielinizzante ereditaria autosomica dominante | |
| nl | Autosomaal dominante erfelijke demyeliniserende motorische en sensorische neuropathie | |
| pt | Neuropatia sensitiva e motora desmielinizante hereditária autossómica dominante | |
| pl | Autosomalna dominująca dziedziczna demielinizująca neuropatia ruchowa i czuciowa | |
| cs | Autozomálně dominantní hereditární demyelinizační motorická a senzorická neuropatie | |
| uk | Аутосомно-домінантна спадкова демієлінізуюча моторна та сенсорна нейропатія | |
| zh | 常染色体显性遗传脱髓鞘性运动和感觉神经病 | |
| tr | Otozomal dominant kalıtsal demiyelinizan motor ve duyusal nöropati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15359 | E | validated | |
| UMLS | C5680673 | E | validated | |
| GARD | 19923 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:476116Demyelinating hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
Children (11):
- ORPHA:140481Autosomal dominant slowed nerve conduction velocity
- ORPHA:65753Charcot-Marie-Tooth disease type 1
- ORPHA:64748Dejerine-Sottas syndrome
- ORPHA:640Hereditary neuropathy with liability to pressure palsies
- ORPHA:280598Hereditary sensorimotor neuropathy with hyperelastic skin
- ORPHA:84093Hereditary thermosensitive neuropathy
- ORPHA:631248Mitchell Syndrome
- ORPHA:139512Neuropathy with hearing impairment
- ORPHA:476394PMP2-related Charcot-Marie-Tooth disease type 1
- ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome
- ORPHA:3115Roussy-Lévy 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/140453
- This record as JSON: /data/d/140453.json