Familial Adenomatous Polyposis 4 (FAP4)

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Disease Ontology 12 DOID:0080412 OMIM 58 617100 MeSH 45 D011125

Orphanet 60 ORPHA480536 MedGen 43 C4310719 CN238101 SNOMED-CT via HPO 70 146801000119103 23730008 255033000 255034006 258211005 363406005 372143007 38713004 399505005 44598004 711329002 78809005 87252009 95315005 more

OMIM : ⁵⁸ Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). (617100)

MalaCards based summary : Familial Adenomatous Polyposis 4, is also known as fap4. An important gene associated with Familial Adenomatous Polyposis 4 is MSH3 (MutS Homolog 3). Affiliated tissues include colon, skin and thyroid, and related phenotypes are adenomatous colonic polyposis and colorectal polyposis

Disease Ontology : ¹² A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has material basis in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.

UniProtKB/Swiss-Prot : ⁷⁶ Familial adenomatous polyposis 4: 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. FAP4 inheritance is autosomal recessive.

Clinical features from OMIM:

617100

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 4

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 4.