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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 |
|---|---|---|---|
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 8908 | GYG2 | glycogenin 2 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9526 | MPDU1 | mannose-P-dolichol utilization defect 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | |
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9HAW7 | UDP-glucuronosyltransferase 1A7 | |
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NQR9 | Glucose-6-phosphatase 2 |
- 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 |
