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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycogen storage disease VIII
Summary
- Synonym
-
- Glycogen storage disease 8
- glycogen storage disease type VIII
- glycogenosis type VIII
- hepatic glycogen phosphorylase kinase deficiency
- Definition
- A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
- Super Class
- X-linked recessive disease glycogen storage disease
External Links
- Disease Ontology
- DOID:2751
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P35575 | Glucose-6-phosphatase catalytic subunit 1 |
