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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 |
|---|---|---|---|
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5257 | PHKB | phosphorylase kinase regulatory subunit beta | |
| 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 |
