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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:0000670 | Carious teeth |
| HP:0000696 | Delayed eruption of permanent teeth |
| HP:0000704 | Periodontitis |
| HP:0000787 | Nephrolithiasis |
| HP:0000821 | Hypothyroidism |
| HP:0000822 | Hypertension |
| HP:0000823 | Delayed puberty |
| HP:0000858 | Irregular menstruation |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
