Glycogen Storage Disease Ib (GSD1B)

Alias:
Glucose-6-Phosphate Transport Defect
Glycogen Storage Disease Type 1b
G6p Translocase Deficiency
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib
Glycogenosis Due to Glucose-6-Phosphatase Transport Defect Type Ib
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1b
Glycogen Storage Disease Due to G6p Deficiency Type Ib
Gsd Due to G6p Deficiency Type 1b
Gsd Due to G6p Deficiency Type Ib
Glycogen Storage Disease Type Ib
Gsd Due to G6pt Deficiency
G6p Deficiency Type Ib
Glycogenosis Type 1b
Glycogenosis Type Ib
Gsd Type 1 Non a
G6pt Deficiency
Gsd Type 1b
Gsd Type Ib
Gsd Ib
Gsd1b
Gsdib
Glycogen Storage Disease, Type Ib
Glycogen Storage Disease 1b
Gsd-Ib
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Ib, also known as glucose-6-phosphate transport defect, is related to glycogen storage disease ic and glycogen storage disease. An important gene associated with Glycogen Storage Disease Ib is SLC37A4 (Solute Carrier Family 37 Member 4). The drugs Empagliflozin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are hepatomegaly and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
1-9/100000
1
6
95

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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