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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 |
|---|---|---|---|
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 2992 | GYG1 | glycogenin 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3098 | HK1 | hexokinase 1 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 3956 | LGALS1 | galectin 1 |
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: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 |
