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GENATLAS PHENOTYPE
last update : 29/06/2006
Symbol FAVD1
Location 9q34.3
Name familial aortic valve disease 1
Other name(s) bicuspid aortic valve 1
Corresponding gene NOTCH1
Other symbol(s) CHD
Main clinical features
  • aortic stenosis, including hypoplastic left heart, with calcifications of the aortic valve in adults
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type malformation
    Gene product
    Name Notch homolog 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   haploinsufficiency frameshift and nonsense mutations
    Remark(s)