Juvenile polyposis syndrome
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Juvenile polyposis syndrome, abbreviated JPS, is an autosomal dominant inherited condition due to a mutation in SMAD4[1] or BMPR1A.[2]
General
It is characterized by (hamartomatous) juvenile polyps.
Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get colorectal carcinoma.[3]
Note:
- SMAD4 is also associated with hereditary hemorrhagic telangiectasia syndrome.[1]
Criteria for Dx of JPS
One of the following:[3]
- Five juvenile polyps in the colorectum.
- "Multiple" juvenile polyps through-out GI tract.
- Juvenile polyp + family history of JPS.
Note:
- "Multiple" is not defined.
See also
References
- ↑ Jump up to: 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 600993
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 601299
- ↑ Jump up to: 3.0 3.1 Pagon, RA.; Bird, TD.; Dolan, CR.; Stephens, K.; Larsen Haidle, J.; Howe, JR.. "Juvenile Polyposis Syndrome". . PMID 20301642.