Glycogen Storage Disease Viii

Alias:
Glycogen Storage Disease Type Viii
Glycogen Storage Disease 8
Glycogenosis Type Viii
Hepatic Glycogen Phosphorylase Kinase Deficiency
Glycogen Storage Disease, Type Ix
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Viii, also known as glycogen storage disease type viii, is related to glycogen storage disease ixa1 and phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Viii is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Digestion and absorption. Affiliated tissues include liver and skeletal muscle.
Related ID:
MESH:D006015

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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5
20
35

Medical Symptom

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

Gene & Mutation

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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
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IF
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