Supravalvular Aortic Stenosis (SVAS)

Alias:
Supravalvar Aortic Stenosis
Svas
Aortic Stenosis, Supravalvular
Supravalvar Aortic Stenosis, Eisenberg Type
Supra-Valvular Aortic Stenosis
Stenosis, Aortic Supravalvular
Stenosis, Supravalvular Aortic
Supravalvular Stenosis, Aortic
Aortic Supravalvular Stenosis
Aortic Stenosis Supravalvular
Aortic Stenosis, Supravalvar
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Supravalvular Aortic Stenosis, also known as supravalvar aortic stenosis, is related to aortic valve disease 2 and aortic valve insufficiency. An important gene associated with Supravalvular Aortic Stenosis is ELN (Elastin), and among its related pathways/superpathways are Extracellular matrix organization and 7q11.23 copy number variation syndrome. The drugs Iodine and Cadexomer iodine have been mentioned in the context of this disorder. Affiliated tissues include heart and smooth muscle, and related phenotypes are arrhythmia and supravalvular aortic stenosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/100000
27
184
59

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
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