/Peutz-Jeghers syndrome

Peutz-Jeghers syndrome

Rare Disease

MONDO:0008280

Also Known As

Jeghers-Peutz syndromePJSPeutz Jeghers SyndromePeutz Jeghers colon polypPeutz's syndromePeutz-Jeghers polyp of small intestinePeutz-Jeghers small bowel hamartomaPeutz-Jeghers syndromeSTK11-related Peutz-Jeghers syndromecolonic hamartomatous polypgastric Peutz-Jeghers polyphamartomatous intestinal polyposispolyps and spots syndromePeutz Jeghers polyposislentiginosis, perioralperiorificial lentiginosis syndromepolyposis, hamartomatous intestinalpolyps-and-Spots syndrome

Definition

An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.