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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
