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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:0000939 | Osteoporosis |
| HP:0011463 | Childhood onset |
| HP:0001510 | Growth delay |
| HP:0000660 | Lipemia retinalis |
| HP:0002254 | Intermittent diarrhea |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001892 | Abnormal bleeding |
| HP:0003128 | Lactic acidosis |
| HP:0000823 | Delayed puberty |
| HP:0004322 | Short stature |
