Phosphorylase Kinase Deficiency (GSDIX)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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5
18
56

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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