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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 |
|---|---|---|---|
| 4023 | LPL | lipoprotein lipase | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 4245 | MGAT1 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| 4534 | MTM1 | myotubularin 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5213 | PFKM | phosphofructokinase, muscle | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5236 | PGM1 | phosphoglucomutase 1 |
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 |
