" /> Juvenile polyposis syndrome - CISMeF





Preferred Label : Juvenile polyposis syndrome;

Symbol : JPS;

CISMeF acronym : JIP; JPS; PJI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polyposis, juvenile intestinal; Juvenile intestinal polyposis; Polyposis, familial, of entire gastrointestinal tract; PJI; JIP;

Included titles and symbols : Juvenile polyposis of stomach; Juvenile polyposis coli;

Description : Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden disease (158350) and in Bannayan-Zonana syndrome (153480). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.;

Inheritance : Autosomal dominant;

Prefixed ID : #174900;

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28/04/2025


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