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glycogen storage disease Ic
Summary
- Definition
- A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.
- Super Class
- autosomal recessive disease glycogen storage disease I
External Links
- Disease Ontology
- DOID:0081331
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001892 | Abnormal bleeding |
| HP:0001903 | Anemia |
| HP:0001943 | Hypoglycemia |
| HP:0001997 | Gout |
| HP:0002014 | Diarrhea |
| HP:0002037 | Inflammation of the large intestine |
| HP:0002149 | Hyperuricemia |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002173 | Hypoglycemic seizures |
| HP:0002240 | Hepatomegaly |
