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References OMIM Gene GeneReviews HGMD HGNC
last update : 29/11/2005
Symbol JPS2
Location 10q23.31
Name juvenile polyposis syndrome
Corresponding gene PTEN
Other symbol(s) JPS, JIP
Main clinical features
  • diarrhea, hemorrhage, protein losing enteropathy, characterized by the development throughout the digestive tract of hamartomatous polyps
  • Genetic determination
    Related entries Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene product
    Name protein tyrosine phosphatase (PTEN)
    Gene mutationChromosome rearrangementEffectComments
    various types     germline point mutations
    deletion     large genomic deletions