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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 |
|---|---|---|---|
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5255 | PHKA1 | phosphorylase kinase regulatory subunit alpha 1 | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6476 | SI | sucrase-isomaltase | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 8908 | GYG2 | glycogenin 2 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 57818 | G6PC2 | glucose-6-phosphatase catalytic subunit 2 | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 |
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 |
