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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:0000978 | Bruising susceptibility |
| HP:0001114 | Xanthelasma |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001397 | Hepatic steatosis |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001538 | Protuberant abdomen |
| HP:0001733 | Pancreatitis |
