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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:0000093 | Proteinuria |
| HP:0000105 | Enlarged kidney |
| HP:0000121 | Nephrocalcinosis |
| HP:0000132 | Menorrhagia |
| HP:0000147 | Polycystic ovaries |
| HP:0000155 | Oral ulcer |
| HP:0000230 | Gingivitis |
| HP:0000293 | Full cheeks |
| HP:0000311 | Round face |
| HP:0000421 | Epistaxis |
