Difference between revisions of "Juvenile polyposis syndrome"
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'''Juvenile polyposis syndrome''', abbreviated '''JPS''', is an inherited condition due to a mutation in SMAD4.<ref>{{OMIM| | '''Juvenile polyposis syndrome''', abbreviated '''JPS''', is an autosomal dominant inherited condition due to a mutation in SMAD4<ref name=omim600993>{{OMIM|600993}}</ref> or BMPR1A.<ref name=omim601299>{{OMIM|601299}}</ref> | ||
It is characterized by [[juvenile polyps]]. | ==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]].<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = '' | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301642 }}</ref> | |||
Note: | |||
*SMAD4 is also associated with ''[[hereditary hemorrhagic telangiectasia syndrome]]''.<ref name=omim600993>{{OMIM|600993}}</ref> | |||
==Criteria for Dx of JPS== | |||
One of the following:<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = '' | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301642 }}</ref> | |||
#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== | ==See also== | ||
*[[Gastrointestinal polyps]]. | *[[Gastrointestinal polyps]]. | ||
*[[Peutz-Jeghers syndrome]]. | |||
*[[Intestinal polyposis]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Latest revision as of 16:23, 4 November 2012
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.