Juvenile polyposis syndrome

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;

Détails

Origin ID

174900;

UMLS CUI

C0345893;

Automatic exact mappings (from CISMeF team)
- Juvenile gastrointestinal polyposis [ICD-11 More detail]
- Juvenile gastrointestinal polyposis [HPO term]
- SMAD4 wt Allele [NCIt concept]
- juvenile polyposis coli [MeSH concept]
- juvenile polyposis of stomach [MeSH concept]
Currated CISMeF NLP mapping
- Generalized juvenile polyposis/juvenile polyposis coli [ORDO Disease]
- Juvenile Polyposis Syndrome [NCIt concept]
- Juvenile polyposis syndrome [MeSH concept]
- Juvenile polyposis syndrome [ORDO Disease]
- Juvenile polyposis syndrome (disorder) [SNOMED CT concept]
- juvenile polyposis [Disease (Nov.)]
- juvenile polyposis syndrome [DO Concept]
- juvenile polyposis syndrome [MeSH Supplementary Concept]
- juvenile polyposis syndrome [SNOMED Notion]
DO Cross reference
- juvenile polyposis syndrome [DO Concept]
False automatic mappings
- Japan [NCIt concept]
Genes related to phenotype
- Bone morphogenetic protein receptor, type ia [OMIM gene]
- Smad family member 4 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clubbing [HPO term]
- Colon cancer [HPO term]
- Diarrhea [HPO term]
- Duodenal adenocarcinoma [HPO term]
- Failure to thrive [HPO term]
- Hematochezia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypokalemia [HPO term]
- Intussusception [HPO term]
- Multiple gastric polyps [HPO term]
- Neoplasm of the stomach [HPO term]
- Rectal bleeding [HPO term]
- Rectal prolapse [HPO term]
ORDO concept(s)
- Generalized juvenile polyposis/juvenile polyposis coli [ORDO Disease]
- Juvenile polyposis syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized juvenile polyposis/juvenile polyposis coli [ORDO Disease]
- Juvenile Polyposis Syndrome [NCIt concept]
- Juvenile polyposis syndrome [MeSH concept]
- Juvenile polyposis syndrome [ORDO Disease]
- Juvenile polyposis syndrome [MedDRA Preferred Term]
- Juvenile polyposis syndrome (disorder) [SNOMED CT concept]
- juvenile polyposis [Disease (Nov.)]
- juvenile polyposis syndrome [MeSH Supplementary Concept]
- juvenile polyposis syndrome [SNOMED Notion]
- juvenile polyposis syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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