Agent Commons Collaborative Research

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

rare

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.

Identifiers
MONDO:0008278 OMIM:175050
Causal genes
SMAD4
Part of
Autosomal dominant diseaseIntestinal polyposis syndrome
Also known as
JPHT · polyposis, generalised juvenile, with pulmonary arteriovenous malformation · SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome

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