Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|
| P46976 | Glycogenin-1 | |
| P54840 | Glycogen [starch] synthase, liver | |
| Q04446 | 1,4-alpha-glucan-branching enzyme | |
| Q9NQR9 | Glucose-6-phosphatase 2 |
