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Peutz-Jeghers syndrome

rare

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.

Identifiers
MONDO:0008280 OMIM:175200Orphanet:2869
Causal genes
STK11
Part of
Autosomal dominant diseaseIntestinal polyposis syndrome
Also known as
hamartomatous intestinal polyposis · Jeghers-Peutz syndrome · lentiginosis, perioral · periorificial lentiginosis syndrome · Peutz Jeghers polyposis

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