Aortic Valve Disease 1 (AOVD1)

Alias:
Aortic Valve Disease
Bicuspid Aortic Valve
Bicuspid Aortic Valve Disease
Aortic Valve Disorder
Familial Bicuspid Aortic Valve
Aortic Valve Calcification
Aovd1
Bav
Abnormality of the Aortic Valve
Aortic Valve, Calcification of
Calcification of Aortic Valve
Aortic Valve Disease, Type 1
Bicommissural Aortic Valve
Aortic Stenosis, Calcific
Calcific Aortic Stenosis
Aortic Valve, Bicuspid
Aortic Valve Disease 2
Familial Bav
Aovd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aortic Valve Disease 1, also known as aortic valve disease, is related to aortic valve insufficiency and loeys-dietz syndrome 4. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Cefazolin and Vancomycin have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, and related phenotypes are bicuspid aortic valve and coarctation of aorta
Related ID:
MESH:D000082862
ICD11:1328968452

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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112
1513
23

Medical Symptom

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

Gene & Mutation

#
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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