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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:0000790 | Hematuria |
| HP:0006280 | Chronic pancreatitis |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0002723 | Absence of bactericidal oxidative respiratory burst in phagocytes |
| HP:0001942 | Metabolic acidosis |
