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)
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