Muscular dystrophy, limb-girdle, autosomal recessive 4

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 4;

Symbol : LGMDR4;

CISMeF acronym : LGMD2E; LGMDR4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2E; Muscular dystrophy, limb-girdle, type 2e;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-sarcoglycan gene (SGCB, 600900.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #604286;

Détails

Origin ID

604286;

UMLS CUI

C1858593;

Currated CISMeF NLP mapping
- Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 [NCIt concept]
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) [SNOMED CT concept]
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 [ORDO Disease]
- Beta-sarcoglycanopathy [MeSH concept]
- Limb-girdle muscular dystrophy, type 2E [MeSH concept]
- autosomal recessive limb-girdle muscular dystrophy type 2E [DO Concept]
- beta-sarcoglycanopathy [MeSH Supplementary Concept]
- limb-girdle muscular dystrophy, type 2E [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2E [DO Concept]
Genes related to phenotype
- Sarcoglycan, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle pseudohypertrophy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial muscle weakness, late [HPO term]
- Joint contractures late [HPO term]
- Juvenile onset [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Onset usually in childhood but sometimes to middle age [HPO term]
- Pelvic girdle muscle atrophy [HPO term]
- Proximal amyotrophy [HPO term]
- Scapular winging [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
ORDO concept(s)
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 [NCIt concept]
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) [SNOMED CT concept]
- Limb-girdle muscular dystrophy, type 2E [MeSH concept]
- limb-girdle muscular dystrophy, type 2E [MeSH Supplementary Concept]

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