familial adenomatous polyposis 1
Findings
No curated finding names familial adenomatous polyposis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP).
Definition from the Mondo Disease Ontology (MONDO:0021056), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 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
- 31 of 31 reported patients
- Congenital hypertrophy of retinal pigment epitheliumHPOHP:0007649
- 37 of 41 reported patients
- Duodenal polyposisHPOHP:0004783
- 90% of reported patients
- Colon cancerHPOHP:0003003
- 7 of 31 reported patients
- Adrenocortical adenomaHPOHP:0008256
- 13% of reported patients
- Gastrointestinal desmoid tumorHPOHP:0100245
- 10% of reported patients
- OsteomaHPO
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.
- APCHGNC:583
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)
Other names
3 names
Resolves to: familial adenomatous polyposis 1
- Also called
- adenoma, periampullary, somaticAPC-related adenomatous polyposisFAP1