hyperplastic polyposis syndrome
Findings
No curated finding names hyperplastic polyposis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
Definition from the Mondo Disease Ontology (MONDO:0015524), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Colorectal polyposisHPOHP:0200063
- Very frequent (80% to 99% of cases)
- Adenomatous colonic polyposisHPOHP:0005227
- Frequent (30% to 79% of cases)
- Gastric diverticulumHPOHP:0100808
- Frequent (30% to 79% of cases)
- Neoplasm of the large intestineHPOHP:0100834
- Occasional (5% to 29% of cases)
- Biliary tract neoplasmHPOHP:0100574
- Very rare (1% to 4% of cases)
- Bladder carcinomaHPOHP:0002862
- Very rare (1% to 4% of cases)
- Breast carcinoma
Show the remaining 2
- Prostate cancerHPOHP:0012125
- Very rare (1% to 4% of cases)
- SchwannomaHPOHP:0100008
- Very rare (1% to 4% 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.
- RNF43HGNC:18505
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: hyperplastic polyposis syndrome
- Also called
- serrated polyposis