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MUTYH-related attenuated familial adenomatous polyposis

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.
Uniprot Description A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.
Mondo Term and Equivalent IDs
MONDO:0012041:  MUTYH-related attenuated familial adenomatous polyposis
GARD:0010805: 
MESH:C563924: 
NCIT:C96520: 
Orphanet:247798: 
UMLS:C1837991: