lethal congenital glycogen storage disease of heart Disease Ontology Browser

Disease Ontology Browser

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.

Disease References using Mouse Models (2)

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Myh6-PRKAG2*T400N)1Feah/0	involves: FVB/N	J:162180	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Myh6-tTA)55Rbns/0 Tg(Myh6/tetO-PRKAG2*N488I)1Chib/0	Not Specified	J:145090	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/25/2025 MGI 6.24