Peutz-Jeghers syndrome
Findings
No curated finding names Peutz-Jeghers syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008280), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Bloody diarrheaHPOHP:0025085
- 1 of 1 reported patient
- Hamartomatous polyposisHPOHP:0004390
- 1 of 1 reported patient
- Hypermelanotic maculeHPOHP:0001034
- 1 of 1 reported patient
- Intestinal bleedingHPOHP:0002584
- 1 of 1 reported patient
- IntussusceptionHPOHP:0002576
- 2 of 2 reported patients
- Labial melanotic maculeHPO
Show the remaining 29
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Multiple lentiginesHPOHP:0001003
- Very frequent (80% to 99% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Frequent (30% to 79% of cases)
- Abnormality of the gallbladderHPOHP:0005264
- Occasional (5% to 29% of cases)
- Abnormality of the noseHPOHP:0000366
- Occasional (5% to 29% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STK11HGNC:11389
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: Peutz-Jeghers syndrome
- Also called
- hamartomatous intestinal polyposisJeghers-Peutz syndromePeutz Jeghers SyndromePeutz's syndromePJSpolyps and spots syndromeSTK11-related Peutz-Jeghers syndrome