Myopathy, distal, 6, adult-onset, autosomal dominant

Preferred Label : Myopathy, distal, 6, adult-onset, autosomal dominant;

Symbol : MPD6;

CISMeF acronym : MPD6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actinin, alpha-2 gene (ACTN2, 102573.0010);

Laboratory abnormalities : Increased serum creatine kinase (in some patients);

Prefixed ID : #618655;

Details

Origin ID

618655;

UMLS CUI

C5203349;

Genes related to phenotype
- Actinin, alpha-2 [OMIM gene]
HPO term(s)
- Autophagic vacuoles [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Gait disturbance [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Internally nucleated skeletal muscle fibers [HPO term]
- Proximal muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Z-band streaming [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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