lethal congenital glycogen storage disease of heart

Summary
Synonym
  • fatal congenital hypertrophic cardiomyopathy due to GSD
  • fatal congenital hypertrophic cardiomyopathy due to glycogenosis
  • fatal congenital nonlysosomal cardiac glycogenosis
  • phosphorylase kinase deficiency 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.
Super Class
glycogen storage disease physical disorder
External Links
Disease Ontology
DOID:0090101
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
51422 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2
53632 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
108099 Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
241113 Prkag3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024