ORPHA:102015
Autosomal recessive limb-girdle muscular dystrophy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 recessive limb-girdle muscular dystrophy | |
| fr | Dystrophie musculaire des ceintures autosomique récessive | |
| de | Gliedergürtelmuskeldystrophie, autosomale-rezessive | |
| es | Distrofia muscular de cinturas autosómica recesiva | |
| it | Distrofia muscolare dei cingoli, autosomica recessiva | |
| nl | Autosomaal recessieve limb-girdle-spierdystrofie | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie · Autosomaal recessieve ledemaatgordel-spierdystrofie |
| pt | Distrofia muscular das cinturas dos membros autossómica recessiva | |
| pl | Autosomalana recesywna dystrofia obręczowo-kończynowa | |
| cs | Autozomálně recesivní svalové dystrofie končetinového pletence | |
| uk | Аутосомно-рецесивна мязова дистрофія кінцівок і поясів | |
| zh | 常染色体隐性遗传肢体带状肌营养不良 | |
| tr | Otozomal resesif ekstremite-kuşak kas distrofisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C70.41 | E | specific | validated |
| MONDO | 0015152 | E | validated | |
| MONDO | 15152 | E | validated | |
| MeSH | C538640 | E | validated | |
| UMLS | C2931907 | 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:263Limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases
Children (27):
- ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12
- ORPHA:653725Autosomal recessive limb-girdle muscular dystrophy, type 28
- ORPHA:476084BVES-related limb-girdle muscular dystrophy
- ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1
- ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
- ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2
- ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9
- ORPHA:206554Fukutin-related limb-girdle muscular dystrophy R13
- ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:565837Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
- ORPHA:445110Limb-girdle muscular dystrophy due to POMK deficiency
- ORPHA:480682POGLUT1-related limb-girdle muscular dystrophy R21
- ORPHA:206564POMGNT1-related limb-girdle muscular dystrophy R15
- ORPHA:565899POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14
- ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:424261TOR1AIP1-related limb-girdle muscular dystrophy
- ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18
- ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8
- ORPHA:34514Telethonin-related limb-girdle muscular dystrophy R7
- ORPHA:140922Titin-related limb-girdle muscular dystrophy R10
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/102015
- This record as JSON: /data/d/102015.json