SMAD4 and hereditary hemorrhagic telangiectasia: For example, Juvenile polyposis syndrome[MIM:174900], Pancreatic cancer (PNCA) [MIM:260350], syndrome phenotype consisting of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300], Colorectal cancer (CRC) [MIM:114500], Myhre syndrome (MYHRS) [MIM:139210], and Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] are all caused by mutations in SMAD4 [UniProt: Q13485].