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glycogen storage disease Ia
Summary
- Definition
- A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
- Super Class
- autosomal recessive disease glycogen storage disease I
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 57818 | G6PC2 | glucose-6-phosphatase catalytic subunit 2 | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001402 | Hepatocellular carcinoma |
| HP:0000295 | Doll-like facies |
| HP:0002240 | Hepatomegaly |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0001538 | Protuberant abdomen |
| HP:0000787 | Nephrolithiasis |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0001997 | Gout |
| HP:0003199 | Decreased muscle mass |
