autosomal recessive limb-girdle muscular dystrophy type 2A
Information
- Disease name
- autosomal recessive limb-girdle muscular dystrophy type 2A
- Disease ID
- DOID:0110275
- Description
- "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7720071]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0110274
- Cross Reference ID (Disease Ontology)
- GARD:3845
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.0
- Cross Reference ID (Disease Ontology)
- MIM:253600
- Cross Reference ID (Disease Ontology)
- ORDO:267
- Exact Synonym (Disease Ontology)
- Leyden-Moebius muscular dystrophy
- Exact Synonym (Disease Ontology)
- LGMD2A
- Exact Synonym (Disease Ontology)
- limb-girdle muscular dystrophy due to calpain deficiency
- Exact Synonym (Disease Ontology)
- muscular dystrophy, limb-girdle, type 2A
- Exact Synonym (Disease Ontology)
- pelvofemoral muscular dystrophy
- Exact Synonym (Disease Ontology)
- primary calpainopathy
- OrphaNumber from OrphaNet (Orphanet)
- 267