Glycogen Storage Disease Ixa1 (GSD9A1)

Alias:
Glycogen Storage Disease Ixa2
Glycogen Storage Disease, Type Ixa2
Glycogen Storage Disease, Type Ixa1
Gsd9a1
Glycogen Storage Disease Viii, Formerly
Hepatic Phosphorylase Kinase Deficiency
Liver Glycogenosis, X-Linked, Type I
Storage Disease, Glycogen, Type Ixa1
X-Linked Liver Glycogenosis Type Ii
Glycogen Storage Disease Type Viii
X-Linked Liver Glycogenosis Type I
Glycogen Storage Disease, Type Ix
Glycogen Storage Disease Viii
Glycogen Storage Disease Ixa
Glycogen Storage Disease Via
Glycogen Storage Disease 9a
X-Linked Liver Glycogenosis
Gsd Viii, Formerly
Gsd8, Formerly
Gsd-Viii
Gsd-Ixa
Gsd-Via
Gsd9a2
Gsd9a
Xlg1
Xlg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Ixa1, also known as glycogen storage disease ixa2, is related to glycogen storage disease and glycogen storage disease viii. An important gene associated with Glycogen Storage Disease Ixa1 is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver, and related phenotypes are hepatomegaly and hypoglycemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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1
4
54

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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