Glycogen Storage Disease Ia (GSD1A)
Alias:
Glycogen Storage Disease Type I
Von Gierke Disease
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia
Glycogen Storage Disease I
Hepatorenal Form of Glycogen Storage Disease
Hepatorenal Glycogenosis
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia
Glycogen Storage Disease Due to G6p Deficiency Type Ia
Glucose-6-Phosphate Transport Defect
Gsd Due to G6p Deficiency Type 1a
Gsd Due to G6p Deficiency Type Ia
Glucose-6-Phosphatase Deficiency
Glycogen Storage Disease Type 1a
Glycogen Storage Disease, Type I
G6p Deficiency Type 1a
Von Gierke's Disease
Glycogenosis Type Ia
Gsd Type 1a
Gsd1a
Gsdia
Deficiency of Glucose-6-Phosphatase
Storage Disease, Glycogen, Type 1a
Glycogen Storage Disease Type Ia
Glucose-6-Phosphate Deficiency
Glycogen Storage Disease 1a
Glycogen Storage Disease 1
Glycogenosis Type I
Gsd Type I
Gsd Ia
Gsd-Ia
Gsd I
Gsd1
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to fanconi-bickel syndrome and glycogen storage disease v, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Ia is G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. 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 hepatomegaly and hyperlipidemia
Related ID:
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
26
184
229
Medical Symptom
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Description
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HPO Source Accession
No data available
Gene & Mutation
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Name
MGI
Related Gene
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References Literature
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Comparison
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