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glycogen storage disease IXd
Summary
- Synonym
-
- GSD IXd
- GSD due to muscle phosphorylase kinase deficiency
- GSD type 9D
- GSD type 9E
- GSD type IXd
- GSD type IXe
- GSD9D
- X-linked muscke glycogenosis
- glycogen storage disease due to muscle phosphorylase kinase deficiency
- glycogen storage disease type 9D
- glycogen storage disease type 9E
- glycogen storage disease type IXd
- glycogen storage disease type IXe
- glycogenosis due to muscle phosphorylase kinase deficiency
- glycogenosis type 9D
- glycogenosis type 9E
- glycogenosis type IXd
- glycogenosis type IXe
- muscle phosphorylase kinase deficiency
- Definition
- A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
- Super Class
- X-linked recessive disease glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111040
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
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 |
