KEGG   DISEASE: H01025Help
Entry
H01025                      Disease                                

Name
Familial adenomatous polyposis
Description
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.
Category
Gastrointestinal disease
BRITE hierarchy
Pathway
Wnt signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Colorectal cancer
Base excision repair
Gene
APC [HSA:324] [KO:K02085]
MUTYH [HSA:4595] [KO:K03575]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19822006 (description, gene)
  Authors
Half E, Bercovich D, Rozen P
  Title
Familial adenomatous polyposis.
  Journal
Orphanet J Rare Dis 4:22 (2009)
Reference
PMID:21884696 (description)
  Authors
Burgess AW, Faux MC, Layton MJ, Ramsay RG
  Title
Wnt signaling and colon tumorigenesis--a view from the periphery.
  Journal
Exp Cell Res 317:2748-58 (2011)

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