Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency

Alias:
Glycogen Storage Disorder Due to Hepatic Glycogen Synthase Deficiency
Glycogen Storage Disease Due to Liver Glycogen Synthase Deficiency
Gsd Due to Hepatic Glycogen Synthase Deficiency
Glycogen Storage Disease Type 0a
Glycogenosis Type 0a
Gsd Type 0a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency, also known as glycogen storage disorder due to hepatic glycogen synthase deficiency, is related to glycogen storage disease and glycogen storage disease 0, liver. An important gene associated with Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency is GYS2 (Glycogen Synthase 2). Affiliated tissues include liver and heart, and related phenotypes are irritability and ketonuria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
8
18

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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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
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IF
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