Glycogen Storage Disease (GSD)

Alias:
Glycogenosis
Generalised Glycogen Storage Disease of Infants
Generalised Glycogen Storage Disease
Gsd - [glycogen Storage Disease]
Glycogen Synthase Deficiency
Storage Disease, Glycogen
Generalised Glycogenosis
Glycogen Thesaurismosis
Diffuse Glycogenosis
Glycogenoses
Gsd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease, also known as glycogenosis, is related to glycogen storage disease iv and glycogen storage disease iii. An important gene associated with Glycogen Storage Disease is GAA (Alpha Glucosidase), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Bortezomib and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include Liver and skeletal muscle, and related phenotypes are Decreased viability and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Related ID:
MESH:D006008
ICD11:1187107383

Basic Information

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

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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