ORPHA:140465
Autosomal dominant distal hereditary motor neuropathy
Synonyms: Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy
- 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 distal hereditary motor neuropathy | Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy |
| fr | Neuropathie motrice distale héréditaire autosomique dominante | Amyotrophie spinale distale autosomique dominante · dHMN autosomique dominante · dSMA autosomique dominante |
| de | Neuropathy, motorische, distale, hereditäre, autosomal-dominante | Autosomal-dominante dHMN · Spinale Muskelatrophie, distale, autosomal-dominante |
| es | Neuropatía motora distal hereditaria autosómica dominante | Atrofia muscular espinal distal autosómica dominante · dHMN autosómica dominante |
| it | Neuropatia motoria ereditaria distale autosomica dominante | Atrofia muscolare spinale distale autosomica dominante · dHMN autosomica dominante |
| nl | Autosomaal dominante distale erfelijke motorische neuropathie | Autosomaal dominante dHMN · Autosomaal dominante distale spinale musculaire atrofie · Autosomaal dominante distale spinale spieratrofie |
| pt | Neuropatia motora hereditária distal autossómica dominante | |
| pl | Autosomalna dominująca dystalna dziedziczna neuropatia ruchowa | Autosomalna dominująca dHMN · Autosomalny dominujący dystalny rdzeniowy zanik mięśni |
| cs | Autozomálně dominantní distální hereditární motorická neuropatie | Autozomálně dominantní dHMN · Autozomálně dominantní distální spinální svalová atrofie |
| uk | Автосомно-домінантна дистальна спадкова моторна нейропатія | Аутосомно-домінантний dHMN · Аутосомно-домінантна дистальна спінальна мязова атрофія |
| zh | 常染色体显性遗传远端型遗传运动神经病 | 常染色体显性遗传远端脊髓性肌萎缩 |
| tr | Otozomal dominant distal kalıtsal motor nöropati | Otozomal dominant dHMN · Otozomal dominant distal spinal kas atrofi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015362 | E | validated | |
| MONDO | 15362 | E | validated | |
| UMLS | C5548212 | E | validated | |
| GARD | 19926 | 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:53739Distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases
Children (8):
- ORPHA:1216Autosomal dominant congenital benign spinal muscular atrophy
- ORPHA:100998Autosomal dominant spastic paraplegia type 17
- ORPHA:139518Distal hereditary motor neuropathy type 1
- ORPHA:139525Distal hereditary motor neuropathy type 2
- ORPHA:139536Distal hereditary motor neuropathy type 5
- ORPHA:139589Distal hereditary motor neuropathy type 7
- ORPHA:476093HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- ORPHA:397744MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss 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/140465
- This record as JSON: /data/d/140465.json