Muscular dystrophy, limb-girdle, autosomal recessive 3

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 3;

Symbol : LGMDR3;

CISMeF acronym : DMDA2; LGMD2D; LGMDR3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Duchenne-like autosomal recessive muscular dystrophy, type 2; Adhalinopathy, primary; DMDA2; LGMD2D; Muscular dystrophy, limb-girdle, type 2d;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-sarcoglycan gene (SGCA, 600119.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #608099;

Détails

Origin ID

608099;

UMLS CUI

C2936332;

Automatic exact mappings (from CISMeF team)
- sarcoglycan alpha [ORDO Gene]
Currated CISMeF NLP mapping
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 [ORDO Disease]
- Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) [SNOMED CT concept]
- Limb-Girdle Muscular Dystrophy Type 2D [NCIt concept]
- autosomal recessive limb-girdle muscular dystrophy type 2D [DO Concept]
- limb girdle muscular dystrophy type 2d [Disease (Nov.)]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2D [DO Concept]
Genes related to phenotype
- Sarcoglycan, alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Cardiomyopathy [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Juvenile onset [HPO term]
- Limb-girdle muscle atrophy [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Limb-girdle muscular dystrophy [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Unsteady gait [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Sarcoglycanopathies [MeSH concept]
- Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) [SNOMED CT concept]
- Limb-Girdle Muscular Dystrophy Type 2D [NCIt concept]
Validated automatic mappings to NTBT
- sarcoglycanopathies [MeSH Descriptor]

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