Glycogen Storage Disease Ixa

Alias:
Glycogen Storage Disease Type Ixa
Glycogen Storage Disease Type 9a
Glycogenosis Type Ixa
Glycogenosis Type 9a
Gsd Type Ixa
Gsd Type 9a
Gsd9a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Ixa, also known as glycogen storage disease type ixa, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and glycogen storage disease ixc. An important gene associated with Glycogen Storage Disease Ixa is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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10
43
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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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