ORPHA:206650
Autosomal dominant distal myopathy
- 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 myopathy | |
| fr | Myopathie distale autosomique dominante | |
| de | Myopathie, distale, autosomal-dominante | |
| es | Miopatía distal autosómica dominante | |
| it | Miopatia distale, autosomica dominante | |
| nl | Autosomale dominante distale myopathie | |
| pt | Miopatia distal autossómica dominante | |
| pl | Autosomalna dominująca miopatia dystalna | |
| cs | Autozomálně dominantní distální myopatie | |
| uk | Аутосомно-домінантна дистальна міопатія | |
| zh | 常染色体显性远端肌病 | |
| tr | Otozomal dominant distal miyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016108 | E | validated | |
| MONDO | 16108 | E | validated | |
| UMLS | C5680803 | 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:599Distal myopathy
rare genetic diseases; rare neurological diseases
Children (24):
- ORPHA:329478Adult-onset distal myopathy due to VCP mutation
- ORPHA:399058Alpha-B crystallin-related late-onset myopathy
- ORPHA:708133Autosomal dominant ACTN2-related distal myopathy
- ORPHA:708123Autosomal dominant distal nebulin myopathy
- ORPHA:199340BAG3-related myofibrillar myopathy
- ORPHA:700188Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
- ORPHA:700170DNAJB4-related distal myopathy
- ORPHA:708126DNAJB6-related distal myopathy
- ORPHA:98909Desminopathy
- ORPHA:488650Distal myopathy, Tateyama type
- ORPHA:603Distal myopathy, Welander type
- ORPHA:98911Distal myotilinopathy
- ORPHA:63273FLNC-related handgrip and calf weakness-distal myopathy
- ORPHA:399086HNRNPA1-related adult-onset distal myopathy
- ORPHA:476093HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- ORPHA:399081KLHL9-related early-onset distal myopathy
- ORPHA:59135Laing distal myopathy
- ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type
- ORPHA:397744MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:98897Oculopharyngodistal myopathy
- ORPHA:696063PLIN4-related distal myopathy
- ORPHA:700154TARDBP-related predominantly upper-limb distal myopathy
- ORPHA:609Tibial muscular dystrophy
- ORPHA:600Vocal cord and pharyngeal distal myopathy
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206650
- This record as JSON: /data/d/206650.json