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GENATLAS PHENOTYPE
last update : 6/02/2008
Symbol SVAS
Location 7q11.23
Name supravalvular aortic stenosis
Other name(s) supravalvular aortic stenosis, Eisenberg type
Corresponding gene ELN
Main clinical features
  • localized or diffuse narrowing of the ascending aorta resulting from thickening of the aortic media, leading to ventricular hypertrophy, fibrillative and congestive heart failure, affecting other major arteries, occuring as an isolated disease (ELN defect) or as part of the Williams syndrome, see WBS
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name elastin (ELN)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency