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References OMIM Gene GeneReviews HGMD HGNC
last update : 13/07/2006
Symbol JPHT
Location 18q21.2
Name juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Other name(s)
  • JP/HHT syndrome
  • JPS/HHT syndrome
  • Corresponding gene SMAD4
    Main clinical features
  • juvenile polyposis coli generalized, cutaneous telangiectasia, and pulmonary arteriovenous malformations, associated to mild digital clubbing, subperiosteal thickening of metacarpals
  • Genetic determination autosomal dominant
    Function/system disorder digestive tract/gastrointestinal
    Type disease