Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000991 | Xanthomatosis |
| HP:0003623 | Neonatal onset |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0012522 | Spider hemangioma |
| HP:0000083 | Renal insufficiency |
| HP:0010280 | Stomatitis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001946 | Ketosis |
| HP:0002884 | Hepatoblastoma |
