Ebstein Anomaly

Alias:
Ebstein's Anomaly
Ebstein's Anomaly of Common Atrioventricular Valve
Ebstein's Anomaly of Right Atrioventricular Valve
Ebstein's Anomaly of Tricuspid Valve
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ebstein Anomaly, also known as ebstein's anomaly, is related to ebstein malformation of the tricuspid valve and cardiomyopathy, dilated, 1e. An important gene associated with Ebstein Anomaly is CDK8 (Cyclin Dependent Kinase 8), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include heart and bone marrow, and related phenotypes are sudden cardiac death and atrial septal defect
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
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19
213
9

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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