Familial adenomatous polyposis 1
Familial adenomatous polyposis 1
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).
Also known as adenoma, periampullary, somatic, APC-related adenomatous polyposis, familial adenomatous polyposis 1, FAP1 — per MONDO