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glycogen storage disease IXb
Summary
- Synonym
-
- GSD IXb
- GSD due to liver and muscle phosphorylase kinase deficiency
- GSD type 9B
- GSD type IXb
- GSD9B
- glycogen storage disease type 9B
- glycogen storage disease type IXb
- glycogenosis due to liver and muscle phosphorylase kinase deficiency
- glycogenosis type 9B
- glycogenosis type IXb
- Definition
- A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
- Super Class
- glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111041
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2992 | GYG1 | glycogenin 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5213 | PFKM | phosphofructokinase, muscle | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 | |
| 5230 | PGK1 | phosphoglycerate kinase 1 |
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 |
