KEGG   DISEASE: H01023Help
Entry
H01023                      Disease                                

Name
Juvenile polyposis syndrome
Description
Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of patients with JPS. These genes play a role in the BMP/TGF-beta signalling pathway.
Category
Gastrointestinal disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Gastrointestinal diseases
   H01023  Juvenile polyposis syndrome
Human diseases in ICD-10 classification [BR:br08403]
 2. Neoplasms (C00-D48)
  D10-D36  Benign neoplasms
   D12  Benign neoplasm of colon, rectum, anus and anal canal
    H01023  Juvenile polyposis syndrome
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Cell cycle
Wnt signaling pathway
Adherens junction
Pathways in cancer
Colorectal cancer
Gene
SMAD4 [HSA:4089] [KO:K04501]
BMPR1A [HSA:657] [KO:K04673]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:22171123 (description, gene)
  Authors
Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ
  Title
Juvenile polyposis syndrome.
  Journal
World J Gastroenterol 17:4839-44 (2011)

» Japanese version

DBGET integrated database retrieval system