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GENATLAS PHENOTYPE
last update : 22-02-2016
Symbol FTACC
Location 17q24.1
Name familial tooth agenesis, colorectal cancer syndrome
Other name(s)
  • Oligodontia-colorectal cancer syndrome
  • Corresponding gene AXIN2
    Main clinical features
  • severe permanent tooth agenesis (oligodontia) and predisposition to colorectal cancer
  • Genetic determination autosomal dominant
    Function/system disorder neoplasia
    digestive tract/gastrointestinal
    Type disease
    Gene product
    Name axin 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     Arg656Stop (PMID:15042511)
    insertion     1994-1995insG (PMID:15042511)
    Remark(s)