familial adenomatous polyposis 1

Rare Disease

MONDO:0021056

Also Known As

adenomatous polyposis coliAPC-related adenomatous polyposisFAP1adenoma, periampullary, somaticfamilial adenomatous polyposis 1Gardner syndromeadenomatous polyposis coli, attenuatedadenomatous polyposis of the colonbrain tumor-polyposis syndrome 2familial adenomatous polyposis, attenuatedfamilial polyposis of the colonpolyposis, adenomatous intestinal

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).