Muscular dystrophy, limb-girdle, autosomal recessive 26

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 26;

Symbol : LGMDR26;

CISMeF acronym : LGMDR26;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the popeye domain-containing protein 3 gene (POPDC3, 605824.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #618848;

Details

Origin ID

618848;

UMLS CUI

C5394268;

Genes related to phenotype
- Popeye domain-containing protein 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Difficulty running [HPO term]
- Falls [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Highly elevated creatine kinase [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Muscle fiber necrosis [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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