Familial Adenomatous Polyposis 3 (FAP3)

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Disease Ontology 12 DOID:0080411 OMIM 58 616415 MeSH 45 D011125 ICD10 via Orphanet 35 D12.6

Orphanet 60 ORPHA454840 MedGen 43 C4225157 CN231254 SNOMED-CT via HPO 70 118601006 126488004 126847008 126885006 128929007 1338007 188675007 1929004 254570009 254701007 254838004 254878006 258211005 275265005 28899001 363406005 372130007 402815007 408644002 700423003 79883001 more

OMIM : ⁵⁸ Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). (616415)

MalaCards based summary : Familial Adenomatous Polyposis 3, also known as fap3, is related to tuberous sclerosis and tuberous sclerosis 2. An important gene associated with Familial Adenomatous Polyposis 3 is NTHL1 (Nth Like DNA Glycosylase 1). Affiliated tissues include colon, skin and breast, and related phenotypes are adenomatous colonic polyposis and colon cancer

Disease Ontology : ¹² A familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : ⁷⁶ Familial adenomatous polyposis 3: A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

Clinical features from OMIM:

616415

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 3

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 3.