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Metadata
ID DOID:0090101
Name lethal congenital glycogen storage disease 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.
https://ghr.nlm.nih.gov/gene/PRKAG2#conditions, https://www.omim.org/entry/261740
Xrefs

ICD10CM:E74.0+

ICD10CM:G73.6*

OMIM:261740

ORDO:439854

Synonyms

fatal congenital hypertrophic cardiomyopathy due to glycogenosis [EXACT]

fatal congenital hypertrophic cardiomyopathy due to GSD [EXACT]

fatal congenital nonlysosomal cardiac glycogenosis [EXACT]

phosphorylase kinase deficiency of heart [EXACT]

Parent Relationships

is_a glycogen storage disease

is_a physical disorder

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