ORPHA:265
Autosomal dominant limb-girdle muscular dystrophy type 1C
inactive · moved to ORPHA:97238Rippling muscle disease
Synonyms: LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 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 Rippling muscle disease
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant limb-girdle muscular dystrophy type 1C | LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency |
| fr | Dystrophie musculaire des ceintures autosomique dominante type 1C | Dystrophie musculaire des ceintures par déficit en cavéoline-3 · LGMD1C |
| de | Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1C | Gliedergürtelmuskeldystrophie durch Calveolin-3 -Mangel · LGMD1C |
| es | Distrofia muscular de cinturas autosómica dominante tipo 1C | Distrofia muscular de cinturas por deficiencia de caveolina-3 · LGMD1C |
| it | Distrofia muscolare dei cingoli, autosomica dominante, tipo 1C | Distrofia muscolare dei cingoli da deficit di caveolina-3 · LGMD1C |
| nl | Autosomaal dominante limb-girdle-spierdystrofie type 1C | Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1C · Autosomaal dominante ledemaatgordel-spierdystrofie type 1C · LGMD1C · Limb-girdle-spierdystrofie door caveoline-3-deficiëntie |
| pt | Distrofia muscular das cinturas dos membros autossómica dominante tipo 1C | Distrofia muscular das cinturas dos membros por deficiência de caveolina-3 |
| pl | Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1C | Dystrofia obręczowo-kończynowa z powodu niedoboru kaweoliny-3 · LGMD1C |
| cs | Autozomálně dominantní pletencová svalová dystrofie, typ 1C | LGMD1C · Pletencová svalová dystrofie způsobená deficitem kaveolinu 3 |
| uk | Аутосомно-домінантна мязова дистрофія скелетних мязів кінцівок, тип 1С | LGMD1C · Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту кавеоліну-3 |
| zh | 1C型常染色体显性遗传肢带肌营养不良 | LGMD1C |
| tr | Otozomal dominant ekstremite kavşak tip kas distrofisi tip 1C | Kaveolin-3 eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi · LGMD1C |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1832567 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/265
- This record as JSON: /data/d/265.json