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General Information
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| Term |
lethal congenital glycogen storage disease of heart |
ID (Ontology) |
DOID:0090101 (Human Disease) |
| 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. |
| Also Known As |
"fatal congenital hypertrophic cardiomyopathy due to glycogenosis" ; "fatal congenital hypertrophic cardiomyopathy due to GSD" ; "fatal congenital nonlysosomal cardiac glycogenosis" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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lethal congenital glycogen storage disease of heart | 1 | for disease ribbon | lethal congenital glycogen storage disease of heart | 1 | model of | lethal congenital glycogen storage disease of heart | 1 |
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Relationships