KEGG   DISEASE: Familial adenomatous polyposisHelp
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
Human diseases [BR:br08402]
 Digestive system diseases
  Gastrointestinal diseases
   H01025  Familial adenomatous polyposis
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2E92  Benign neoplasm of digestive organs
     H01025  Familial adenomatous polyposis
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
hsa04810  Regulation of actin cytoskeleton
hsa05200  Pathways in cancer
hsa05210  Colorectal cancer
hsa03410  Base excision repair
Gene
APC [HSA:324] [KO:K02085]
MUTYH [HSA:4595] [KO:K03575]
Other DBs
ICD-11: 2E92.4
ICD-10: D12.6
MeSH: D011125
OMIM: 175100 608456
Reference
  Authors
Half E, Bercovich D, Rozen P
  Title
Familial adenomatous polyposis.
  Journal
Orphanet J Rare Dis 4:22 (2009)
DOI:10.1186/1750-1172-4-22
Reference
  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)
DOI:10.1016/j.yexcr.2011.08.010

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