Preferred Label : Glycogen storage disease II;
Symbol : GSD2;
CISMeF acronym : AMD; GSD II; GSD2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cardiomegalia glycogenica diffusa; Acid maltase deficiency; AMD; Pompe disease; Alpha-1,4-glucosidase deficiency; Gsd II; Glycogenosis, generalized, cardiac form; Acid alpha-glucosidase deficiency; Gaa deficiency;
Description : Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal
storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and
muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement
of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the alpha-1,4-glucosidase gene (GAA, 606800.0002);
Laboratory abnormalities : Elevated serum creatine kinase; Elevated AST and LDH, especially infantile-onset; Presence of vacuoles on muscle biopsy; Deficiency of alpha-1,4-glucosidase (acid maltase);
Prefixed ID : #232300;
Origin ID : 232300;
UMLS CUI : C0017921;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT