/familial adenomatous polyposis 2

familial adenomatous polyposis 2

Rare Disease

MONDO:0012041

Also Known As

FAP2MAPMUTYH-associated polyposisMUTYH-related AFAPMUTYH-related adenomatous polyposisMUTYH-related attenuated FAPMUTYH-related attenuated familial adenomatous polyposisMUTYH-related attenuated familial polyposis coliadenomas, multiple colorectal, autosomal recessivecolorectal adenomatous polyposis, autosomal recessivefamilial adenomatous polyposis 2familial adenomatous polyposis, 2familial adenomatous polyposis, type 2MAP syndromeMYH-associated polyposisautosomal recessive familial adenomatous polyposisautosomal recessive multiple colorectal adenomas

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.