Difference between revisions of "Juvenile polyposis syndrome"

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'''Juvenile polyposis syndrome''', abbreviated '''JPS''', is an autosomal dominant inherited condition classically due to a mutation in SMAD4.<ref>{{OMIM|600993}}</ref>
'''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>  


==General==
It is characterized by ([[hamartomatous]]) [[juvenile polyps]].  
It is characterized by ([[hamartomatous]]) [[juvenile polyps]].  


Individuals with JPS have an increased risk of cancer.
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]].


==References==
==References==

Revision as of 02:27, 27 September 2011

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:

Criteria for Dx of JPS

One of the following:[3]

  1. Five juvenile polyps in the colorectum.
  2. "Multiple" juvenile polyps through-out GI tract.
  3. Juvenile polyp + family history of JPS.

Note:

  • "Multiple" is not defined.

See also

References

  1. ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 600993
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 601299
  3. ↑ 3.0 3.1 Pagon, RA.; Bird, TD.; Dolan, CR.; Stephens, K.; Larsen Haidle, J.; Howe, JR.. Juvenile Polyposis Syndrome. PMID 20301642.
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