Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Alias:
Glycogen Storage Disease Type I
Glycogenosis Type 1
Glycogen Storage Disease Due to G6p Deficiency
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type 1
Gsd Due to G6p Deficiency
Hepatorenal Glycogenosis
Glycogenosis Type I
Von Gierke Disease
G6p Deficiency
Gsd Type I
Gsd Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency, also known as glycogen storage disease type i, is related to glycogen storage disease ia and glycogen storage disease, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency is G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are seizure and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
2
16
105

Medical Symptom

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

Gene & Mutation

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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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