ORPHA:266
Autosomal dominant limb-girdle muscular dystrophy type 1A
inactive · moved to ORPHA:98911Distal myotilinopathy
Synonyms: LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Distal myotilinopathy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant limb-girdle muscular dystrophy type 1A | LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency |
| fr | Dystrophie musculaire des ceintures autosomique dominante type 1A | Dystrophie musculaire des ceintures par déficit en myotiline · LGMD1A |
| de | Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1A | Gliedergürtelmuskeldystrophie durch Myotilin-Mangel · LGMD1A |
| es | Distrofia muscular de cinturas autosómica dominante tipo 1A | Distrofia muscular de cinturas por deficiencia de miotilina · LGMD1A |
| it | Distrofia muscolare dei cingoli, autosomica dominante, tipo 1A | Distrofia muscolare dei cingoli da deficit di miotilina · LGMD1A |
| nl | Autosomaal dominante limb-girdle-spierdystrofie type 1A | Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1A · Autosomaal dominante ledemaatgordel-spierdystrofie type 1A · LGMD1A · Limb-girdle-spierdystrofie door myotilinedeficiëntie |
| pt | Distrofia muscular das cinturas dos membros autossómica dominante tipo 1A | Distrofia muscular das cinturas dos membros por deficiência de miotilina |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 1A | Dystrofia obręczowo-kończynowa z powodu niedoboru miotiliny · LGMD1A |
| cs | Autozomálně dominantní pletencová svalová dystrofie, typ 1A | LGMD1A · Pletencová svalová dystrofie způsobená deficitem myotilinu |
| uk | Аутосомно-домінантна мязова дистрофія скелетних мязів кінцівок, тип 1А | LGMD1A · Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту міотиліну |
| zh | 1A型常染色体显性遗传肢带肌营养不良 | 肌节蛋白所致所致肢带型肌营养不良症 |
| tr | Otozomal dominant ekstremite kavşak tip kas distrofisi tip 1A | LGMD1A · Miyotilin eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C4304304 | E | validated | |
| GARD | 10229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
No children.
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/266
- This record as JSON: /data/d/266.json