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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycogen storage disease IXc
Summary
- Synonym
-
- GSD type 9C
- GSD type IXc
- GSD9C
- glycogen storage disease type 9C
- glycogen storage disease type IXc
- glycogenosis type 9C
- glycogenosis type IXc
- Definition
- A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
- Super Class
- autosomal recessive disease glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111043
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 226 | ALDOA | aldolase, fructose-bisphosphate A | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2027 | ENO3 | enolase 3 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2548 | GAA | alpha glucosidase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15488 | Glycogenin-2 | |
| O43451 | Maltase-glucoamylase | |
| P00338 | L-lactate dehydrogenase A chain | |
| P00558 | Phosphoglycerate kinase 1 | |
| P04075 | Fructose-bisphosphate aldolase A | |
| P06280 | Alpha-galactosidase A | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08237 | ATP-dependent 6-phosphofructokinase, muscle type | |
| P09467 | Fructose-1,6-bisphosphatase 1 | |
| P10253 | Lysosomal alpha-glucosidase |
