familial adenomatous polyposis 2
Findings
No curated finding names familial adenomatous polyposis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas.
Definition from the Mondo Disease Ontology (MONDO:0012041), read 2026-09-29. CC BY 4.0.
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.
- Colorectal polyposisHPOHP:0200063
- Very frequent (80% to 99% of cases)
- Adenocarcinoma of the colonHPOHP:0040276
- Frequent (30% to 79% of cases)
- Adenomatous colonic polyposisHPOHP:0005227
- Frequent (30% to 79% of cases)
- Large intestinal polyposisHPOHP:0030255
- Frequent (30% to 79% of cases)
- Rectal polyposisHPOHP:0100896
- Frequent (30% to 79% of cases)
- Colon cancerHPOHP:0003003
- 5 of 12 reported patients
- Congenital hypertrophy of retinal pigment epitheliumHPOHP:0007649
- Very rare (1% to 4% of cases)
Reported absent (1)
- Gastrointestinal desmoid tumorHPOHP:0100245
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.
- MUTYHHGNC:7527
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: familial adenomatous polyposis 2
- Also called
- adenomas, multiple colorectal, autosomal recessivecolorectal adenomatous polyposis, autosomal recessivefamilial adenomatous polyposis, 2familial adenomatous polyposis, type 2FAP2MAPMUTYH-associated polyposisMUTYH-related adenomatous polyposisMUTYH-related AFAP