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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 |
|---|---|---|---|
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2548 | GAA | alpha glucosidase | |
| 2582 | GALE | UDP-galactose-4-epimerase | |
| 2584 | GALK1 | galactokinase 1 | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2717 | GLA | galactosidase alpha |
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 |
