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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 226 | ALDOA | aldolase, fructose-bisphosphate A | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2027 | ENO3 | enolase 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9HAW7 | UDP-glucuronosyltransferase 1A7 | |
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NQR9 | Glucose-6-phosphatase 2 |
- 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 |
