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glycogen storage disease Ia
Summary
- Definition
- A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
- Super Class
- autosomal recessive disease glycogen storage disease I
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001733 | Pancreatitis |
| HP:0000822 | Hypertension |
| HP:0003077 | Hyperlipidemia |
| HP:0000105 | Enlarged kidney |
| HP:0002149 | Hyperuricemia |
| HP:0003593 | Infantile onset |
| HP:0001114 | Xanthelasma |
| HP:0000093 | Proteinuria |
| HP:0001943 | Hypoglycemia |
| HP:0003162 | Fasting hypoglycemia |
