Muscular dystrophy, limb-girdle, autosomal recessive 5

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 5;

Symbol : LGMDR5;

CISMeF acronym : DMDA; DMDA1; LGMD2C; SCARMD; LGMDR5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adhalin deficiency, secondary; Muscular dystrophy, duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Sarcoglycan, gamma, deficiency of; DMDA; SCARMD; Severe childhood autosomal recessive muscular dystrophy, north african type; Maghrebian myopathy; DMDA1; LGMD2C; Muscular dystrophy, limb-girdle, type 2c;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gamma sarcoglycan gene (SGCG, 253700.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #253700;

Details

Origin ID

253700;

UMLS CUI

C0410173;

Automatic exact mappings (from CISMeF team)
- sarcoglycan gamma [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) [SNOMED CT concept]
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 [ORDO Disease]
- Limb-girdle muscular dystrophy, type 2C [MeSH concept]
- Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) [SNOMED CT concept]
- autosomal recessive limb-girdle muscular dystrophy type 2C [DO Concept]
- limb girdle muscular dystrophy type 2c [Disease (Nov.)]
- limb-girdle muscular dystrophy, type 2C [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2C [DO Concept]
Genes related to phenotype
- Sarcoglycan, gamma [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle pseudohypertrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Gowers sign [HPO term]
- Hyperlordosis [HPO term]
- Muscle fiber necrosis [HPO term]
- Muscular dystrophy [HPO term]
- Pneumonia [HPO term]
- Rapidly progressive [HPO term]
- Restrictive ventilatory defect [HPO term]
- Right ventricular dilatation [HPO term]
- Right ventricular hypertrophy [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 [ORDO Disease]
- Limb-girdle muscular dystrophy, type 2C [MeSH concept]
- Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) [SNOMED CT concept]
- limb-girdle muscular dystrophy, type 2C [MeSH Supplementary Concept]

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