ORPHA:34517
Autosomal dominant limb-girdle muscular dystrophy type 1E
inactive · moved to ORPHA:98909Desminopathy
Synonyms: LGMD1E
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant limb-girdle muscular dystrophy type 1E | LGMD1E |
| fr | Dystrophie musculaire des ceintures autosomique dominante type 1E | = en |
| de | Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1E | = en |
| es | Distrofia muscular de cinturas autosómica dominante tipo 1E | = en |
| it | Distrofia muscolare dei cingoli, autosomica dominante, tipo 1E | = en |
| nl | Autosomaal dominante limb-girdle-spierdystrofie type 1E | Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1E · Autosomaal dominante ledemaatgordel-spierdystrofie type 1E · LGMD1E |
| pt | Distrofia muscular das cinturas dos membros autossómica dominante tipo 1E | |
| pl | Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1E | = en |
| cs | Autozomálně dominantní pletencová svalová dystrofie, typ 1E | = en |
| uk | Аутосомно-домінантна кінцівково-поясна м’язова дистрофія, тип 1Е | = en |
| zh | 常染色体显性肢带肌营养不良症1E型 | = en |
| tr | Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1E | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C3148763 | 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/34517
- This record as JSON: /data/d/34517.json