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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 |
|---|---|---|---|
| 5836 | PYGL | glycogen phosphorylase L | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6476 | SI | sucrase-isomaltase | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 6519 | SLC3A1 | solute carrier family 3 member 1 | |
| 7086 | TKT | transketolase | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 7360 | UGP2 | UDP-glucose pyrophosphorylase 2 | |
| 7368 | UGT8 | UDP glycosyltransferase 8 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14561 | Acyl carrier protein, mitochondrial | |
| O15488 | Glycogenin-2 | |
| O43451 | Maltase-glucoamylase | |
| O60760 | Hematopoietic prostaglandin D synthase | |
| O75352 | Mannose-P-dolichol utilization defect 1 protein | |
| P00338 | L-lactate dehydrogenase A chain | |
| P00558 | Phosphoglycerate kinase 1 | |
| P04075 | Fructose-bisphosphate aldolase A | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A |
- 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 |
