Myopathy, autophagic vacuolar, infantile-onset

Preferred Label : Myopathy, autophagic vacuolar, infantile-onset;

Type : Phenotype or locus, molecular basis unknown;

Description : Infantile-onset autophagic vacuolar myopathy is characterized by increased cardiac and skeletal muscle glycogen with normal acid maltase (GAA; 606800). Skeletal muscle biopsy shows characteristic intracytoplasmic vacuoles that stain for sarcolemmal proteins and complement proteins. Similar pathologic findings are seen in Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, and X-linked myopathy with excessive autophagy (XMEA; 310440), which has been mapped to Xq28.;

Inheritance : Autosomal recessive; Isolated cases;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : %609500;

Details

Origin ID

609500;

UMLS CUI

C2931230;

HPO term(s)
- Autophagic vacuoles [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Global developmental delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Isolated cases [HPO term]
- Myopathy [HPO term]
- Neonatal hypotonia [HPO term]
- Sporadic [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Vacuolar myopathy [MeSH concept]
- vacuolar myopathy [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Vacuolar myopathy [MeSH concept]
- vacuolar myopathy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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