Agent Commons Collaborative Research

Familial adenomatous polyposis 2

rare

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.

Identifiers
MONDO:0012041 OMIM:608456Orphanet:247798
Causal genes
MUTYH
Part of
Autosomal recessive diseaseClassic familial adenomatous polyposis
Also known as
adenomas, multiple colorectal, autosomal recessive · autosomal recessive familial adenomatous polyposis · autosomal recessive multiple colorectal adenomas · colorectal adenomatous polyposis, autosomal recessive · familial adenomatous polyposis, 2

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