lethal congenital glycogen storage disease of heart
Information
- Disease name
- lethal congenital glycogen storage disease of heart
- Disease ID
- DOID:0090101
- Description
- "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." [url:https\://ghr.nlm.nih.gov/gene/PRKAG2#conditions, url:https\://www.omim.org/entry/261740]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2747
- Cross Reference ID (Disease Ontology)
- ICD10CM:E74.0+
- Cross Reference ID (Disease Ontology)
- ICD10CM:G73.6*
- Cross Reference ID (Disease Ontology)
- MIM:261740
- Cross Reference ID (Disease Ontology)
- ORDO:439854
- Exact Synonym (Disease Ontology)
- fatal congenital hypertrophic cardiomyopathy due to glycogenosis
- Exact Synonym (Disease Ontology)
- fatal congenital hypertrophic cardiomyopathy due to GSD
- Exact Synonym (Disease Ontology)
- fatal congenital nonlysosomal cardiac glycogenosis
- Exact Synonym (Disease Ontology)
- phosphorylase kinase deficiency of heart