lethal congenital glycogen storage disease of heart (DOID:0090101)
Alliance: disease page
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
Alt IDs: OMIM:261740, ICD10CM:E74.0+, ICD10CM:G73.6*, ORDO:439854
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.