OBO ID: DOID:0090101
Term Name: lethal congenital glycogen storage disease of heart Search Ontology:
Synonyms:
  • fatal congenital hypertrophic cardiomyopathy due to glycogenosis
  • fatal congenital hypertrophic cardiomyopathy due to GSD
  • fatal congenital nonlysosomal cardiac glycogenosis
  • phosphorylase kinase deficiency of heart
Definition: A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (2)
References:
  • ICD10CM:E74.0+
  • ICD10CM:G73.6*
  • OMIM:261740
  • ORDO:439854
Ontology: Human Disease   ( DOID:0090101 )
Relationships
is a type of:
OTHER lethal congenital glycogen storage disease of heart PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRKAG2 Glycogen storage disease of heart, lethal congenital 261740
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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