juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
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.
MONDO:0017380
juvenile polyposis syndrome
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015185
intestinal polyposis syndrome
is_a
JPHT
related
SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome
exact
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
exact
polyposis, generalised juvenile, with pulmonary arteriovenous malformation
related