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juvenile-polyposis-syndrome
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome (JPS) is caused by germline SMAD4 (~20%) or BMPR1A (~25%) mutations; hamartomatous GI polyps with CRC risk ~40-50% by age 60; SMAD4-JPS patients also have hereditary hemorrhagic telangiectasia features; colonoscopy from age 15.
Entry Metadata
| Field | Value |
|---|---|
| ID | juvenile-polyposis-syndrome |
| Name | Juvenile Polyposis Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toSmad4
connects-toTgf Beta
connects-toColorectal Cancer
connects-toApc
connects-toPten
connects-toPeutz Jeghers Syndrome
connects-toLarge Intestine
connects-toLynch Syndrome
connects-toFap
connects-toStomach
connects-toGastric Cancer
connects-toMutyh Associated Polyposis
connects-toIntestinal Epithelium
Sources
- Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998;280(5366):1086-1088. · PubMed 9582123
- Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44(11):702-709. · PubMed 17601924