hereditary mixed polyposis syndrome
Findings
No curated finding names hereditary mixed polyposis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
Definition from the Mondo Disease Ontology (MONDO:0011023), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- HematocheziaHPOHP:0002573
- Very frequent (80% to 99% of cases)
- Hyperplastic colonic polyposisHPOHP:0012183
- Very frequent (80% to 99% of cases)
- Adenomatous colonic polyposisHPOHP:0005227
- Frequent (30% to 79% of cases)
- Colon cancerHPOHP:0003003
- Frequent (30% to 79% of cases)
- Colorectal polyposisHPOHP:0200063
- Frequent (30% to 79% of cases)
- Juvenile colonic polyposisHPOHP:0012198
- Frequent (30% to 79% of cases)
- Neoplasm of the gastrointestinal tractHPOHP:0007378
- Frequent (30% to 79% of cases)
- Rectal polyposisHPOHP:0100896
- Frequent (30% to 79% of cases)
- Refractory anemiaHPOHP:0005505
- Frequent (30% to 79% of cases)
- Adenocarcinoma of the colonHPOHP:0040276
- Occasional (5% to 29% of cases)
- IntussusceptionHPOHP:0002576
- Occasional (5% to 29% of cases)
Show the remaining 6
- Neoplasm of the rectumHPOHP:0100743
- Occasional (5% to 29% of cases)
- Duodenal adenocarcinomaHPOHP:0006771
- Very rare (1% to 4% of cases)
- Endometrial carcinomaHPOHP:0012114
- Very rare (1% to 4% of cases)
- Gastrointestinal desmoid tumorHPOHP:0100245
- Very rare (1% to 4% of cases)
- Prostate cancerHPOHP:0012125
- Very rare (1% to 4% of cases)
- Thyroid carcinomaHPOHP:0002890
- Very rare (1% to 4% of cases)
Genes
2 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.
Where it sits
Other names
1 name
Resolves to: hereditary mixed polyposis syndrome
- Also called
- HMPS