| H01023 | |
| H number | H01023 |
| 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 |
| Network | nt06507(H01023) TGFB signaling |
| Gene | SMAD4 [HSA:4089] [KO:K04501] BMPR1A [HSA:657] [KO:K04673] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 2E92.40 ICD-10: D12.6 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 |