KEGG   DISEASE: Juvenile polyposis syndrome
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
Neoplasm
Brite
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
     H01023  Juvenile polyposis syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06507  TGFB signaling
   H01023  Juvenile polyposis syndrome
Pathway
hsa04350  TGF-beta signaling pathway
Network
nt06507 TGFB signaling
Gene
SMAD4 [HSA:4089] [KO:K04501]
BMPR1A [HSA:657] [KO:K04673]
Other DBs
ICD-11: 2E92.40
MeSH: C537702
OMIM: 174900
Reference
PMID:22171123
  Authors
Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ
  Title
Juvenile polyposis syndrome.
  Journal
World J Gastroenterol 17:4839-44 (2011)
DOI:10.3748/wjg.v17.i44.4839

» Japanese version

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Disease (1)   
   OMIM (1)   
All databases (1)   

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