Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome (JPHT)

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome, also known as juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, is related to generalized juvenile polyposis/juvenile polyposis coli and juvenile polyposis syndrome. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include liver and brain, and related phenotypes are mitral valve prolapse and mitral regurgitation