juvenile polyposis syndrome
Findings
No curated finding names juvenile polyposis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
Definition from the Mondo Disease Ontology (MONDO:0017380), read 2026-09-29. CC BY 4.0.
Features
55 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.
- Juvenile colonic polyposisHPOHP:0012198
- Obligate (100% of cases)
- Juvenile gastrointestinal polyposisHPOHP:0004784
- Obligate (100% of cases)
- Rectal polyposisHPOHP:0100896
- Obligate (100% of cases)
- Intestinal polypHPOHP:0005266
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Occasional (5% to 29% of cases)
- Hamartomatous polyposisHPOHP:0004390
- Frequent (30% to 79% of cases)
- Small intestinal polyposisHPOHP:0030256
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Chronic fatigueHPOHP:0012432
- Occasional (5% to 29% of cases)
- Clubbing of fingersHPOHP:0100759
- Occasional (5% to 29% of cases)
Show the remaining 43
- Colon cancerHPOHP:0003003
- 20% of reported patients
- Occasional (5% to 29% of cases)
- Duodenal adenocarcinomaHPOHP:0006771
- Occasional (5% to 29% of cases)
- EdemaHPOHP:0000969
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
- BMPR1AHGNC:1076
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SMAD4HGNC:6770
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- ENGHGNC:3349
- Limited · ClinGen · Autosomal dominant · 2022
Where it sits
Other names
7 names
Resolves to: juvenile polyposis syndrome
- Also called
- JIPJPSjuvenile gastrointestinal polyposisjuvenile intestinal polyposisjuvenile multiple polyps syndromejuvenile polyposispolyposis, juvenile intestinal