Glycogen Storage Disease of Heart, Lethal Congenital (GSDH)

Alias:
Lethal Congenital Glycogen Storage Disease of Heart
Phosphorylase Kinase Deficiency of Heart
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis
Storage Disease, Glycogen, Type of Heart, Lethal Congenital
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd
Glycogen Storage Disease of Heart Lethal Congenital
Fatal Congenital Nonlysosomal Cardiac Glycogenosis
Fatal Congenital Nonlysosomal Heart Glycogenosis
Congenital Nonlysosomal Cardiac Glycogenosis
Glycogen Storage Disease of Heart
Gsdh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease of Heart, Lethal Congenital, also known as lethal congenital glycogen storage disease of heart, is related to fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease. An important gene associated with Glycogen Storage Disease of Heart, Lethal Congenital is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include heart and kidney, and related phenotypes are increased myocardial glycogen content and congestive heart failure

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
--
1
10
28

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
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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
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IF
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