Glycogen Storage Disease 0, Muscle (GSD0B)

Alias:
Muscle Glycogen Synthase Deficiency
Muscle Glycogen Storage Disease 0
Gsd0b
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency
Storage Disease, Glycogen, Type 0, Muscle
Gsd 0b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease 0, Muscle, also known as muscle glycogen synthase deficiency, is related to glycogen storage disease due to muscle and heart glycogen synthase deficiency and glycogen storage disease 0, liver. An important gene associated with Glycogen Storage Disease 0, Muscle is GYS1 (Glycogen Synthase 1). Affiliated tissues include heart and skin, and related phenotypes are left ventricular hypertrophy and stroke

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
1
8
9

Medical Symptom

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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
No Data Found!
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