Aortic Valve Disease 2 (AOVD2)

Alias:
Aortic Valve Stenosis
Aortic Stenosis
Rheumatic Aortic Stenosis
Rheumatic Aortic Valve Stenosis
Bicuspid Aortic Valve
Aovd2
Rheumatic Aortic Valve Stenosis with Insufficiency
Rheumatic Aortic Stenosis with Regurgitation
Rheumatic Aortic Stenosis with Incompetence
Rheumatic Aortic Valve Obstruction
Aortic Insufficiency with Stenosis
Aortic Valve Disease, Type 2
Rheumatic Aortic Obstruction
Rheumatic Aortic Stricture
Aortic Valve Regurgitation
Valvular Aortic Stenosis
Aortic Valve Obstruction
Aortic Valve Stricture
Obstructed Aorta Valve
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aortic Valve Disease 2, also known as aortic valve stenosis, is related to aortic valve insufficiency and holt-oram syndrome. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Propofol and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, and related phenotypes are coarctation of aorta and calcification of the aorta
Related ID:
MESH:D001024
ICD11:145623962

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
40
472
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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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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