/juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Rare Disease

MONDO:0008278

Also Known As

SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndromejuvenile polyposis/hereditary hemorrhagic telangiectasia syndromeJP/Hht syndromeJPHTjPS/Hhtjuvenile polyposis with hereditary hemorrhagic telangiectasiapolyposis, generalised juvenile, with pulmonary arteriovenous malformationpolyposis, generalized juvenile, with pulmonary arteriovenous malformationtelangiectasia, hereditary hemorrhagic, with juvenile polyposis coli

Definition

An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias.