Muscular dystrophy, limb-girdle, autosomal dominant 4

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

Symbol : LGMDD4;

CISMeF acronym : LGMD1I; LGMDD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 1i; LGMD1I;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calpain 3 gene (CAPN3, 114240.0011);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #618129;

Details

Origin ID

618129;

UMLS CUI

C4748295;

Automatic exact mappings (from CISMeF team)
- Calpain-3-related limb-girdle muscular dystrophy D4 [ORDO Disease]
Currated CISMeF NLP mapping
- Calpain-3-related limb girdle muscular dystrophy D4 (disorder) [SNOMED CT concept]
Genes related to phenotype
- Calpain 3 [OMIM gene]
HPO term(s)
- Abdominal wall muscle weakness [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait disturbance [HPO term]
- Hyperlordosis [HPO term]
- Muscle fiber splitting [HPO term]
- Myalgia [HPO term]
- Myopathy [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Scapular winging [HPO term]
ORDO concept(s)
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Calpain-3-related limb girdle muscular dystrophy D4 (disorder) [SNOMED CT concept]

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