Details of Disease

General Information of Disease (ID: DIS322OY)

Disease Name Lethal congenital glycogen storage disease of heart
Synonyms
glycogen storage disease of heart, lethal congenital; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; glycogen storage disease of heart; fatal congenital hypertrophic cardiomyopathy due to GSD; PRKAG2 glycogen storage disease; phosphorylase kinase deficiency of heart; fatal congenital nonlysosomal cardiac glycogenosis; glycogen storage disease caused by mutation in PRKAG2; fatal congenital hypertrophic cardiomyopathy due to glycogenosis
Definition Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.
Disease Hierarchy
DIS5DQIA: PRKAG2-related cardiomyopathy
DISYGNOB: Disorder of glycogen metabolism
DIS322OY: Lethal congenital glycogen storage disease of heart
Disease Identifiers
MONDO ID
MONDO_0009867
MESH ID
C564888
UMLS CUI
C1849813
OMIM ID
261740
MedGen ID
337919
Orphanet ID
439854
SNOMED CT ID
1230303001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKAG2 OTHTAM54 Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.