Polymerase proofreading-related adenomatous polyposis
MONDO:0018653Mondo
Findings
No curated finding names Polymerase proofreading-related adenomatous polyposis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
7 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.
- Adenomatous colonic polyposisHPOHP:0005227
- Frequent (30% to 79% of cases)
- Colorectal polyposisHPOHP:0200063
- Frequent (30% to 79% of cases)
- Endometrial carcinomaHPOHP:0012114
- Frequent (30% to 79% of cases)
- Adenocarcinoma of the colonHPOHP:0040276
- Occasional (5% to 29% of cases)
- Brain neoplasmHPOHP:0030692
- Occasional (5% to 29% of cases)
- Breast carcinomaHPOHP:0003002
- Occasional (5% to 29% of cases)
- Neoplasm of the rectumHPOHP:0100743
- Occasional (5% to 29% 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: Polymerase proofreading-related adenomatous polyposis
- Also called
- PPAP