Glycogen Storage Disease Vi (GSD6)

Alias:
Glycogen Storage Disease Type Vi
Hers Disease
Hepatic Glycogen Phosphorylase Deficiency
Glycogenosis Type Vi
Gsd Type Vi
Gsd Vi
Gsd6
Glycogen Storage Disease Due to Liver Glycogen Phosphorylase Deficiency
Glycogenosis Due to Liver Glycogen Phosphorylase Deficiency
Gsd Due to Liver Glycogen Phosphorylase Deficiency
Liver Glycogen Phosphorylase Deficiency
Glycogen Storage Disease, Type Vi
Hepatic Phosphorylase Deficiency
Glycogen Storage Disease Type 6
Glycogen Storage Disease 6
Glycogenosis Type 6
Hers' Disease
Gsd Type 6
Phosphorylase Deficiency Glycogen-Storage Disease of Liver
Hepatophosphorylase Deficiency Glycogenosis
Liver Phosphorylase Deficiency Syndrome
Storage Disease, Glycogen, Type Vi
Liver Phosphorylase Deficiency
Glycogen Storage Disease Vib
Gsd-Vi
Her
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Vi, also known as glycogen storage disease type vi, is related to glycogen storage disease ixb and glycogen storage disease ii. An important gene associated with Glycogen Storage Disease Vi is PYGL (Glycogen Phosphorylase L), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Affiliated tissues include liver and skeletal muscle, and related phenotypes are hepatomegaly and increased hepatic glycogen content
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-9/100000
13
63
28

Medical Symptom

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

Gene & Mutation

#
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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