Phosphorylase Kinase Deficiency (GSDIX)

Phosphorylase Kinase Deficiency(来自ICD-11)
别称:
Glycogen Storage Disease Type Ix
Phosphorylase B Kinase Deficiency
Phk Deficiency
Gsdix
Deficiency of Phosphorylase Kinase
Glycogen Storage Disease, Type Ix
Gsd Ix
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phosphorylase Kinase Deficiency, also known as glycogen storage disease type ix, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and glycogen storage disease ixb. An important gene associated with Phosphorylase Kinase Deficiency is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver and skeletal muscle, and related phenotypes are Decreased viability and Decreased substrate adherent cell growth
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基础信息

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参考文献
MALACARDS
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Unknown
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5
18
56

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