Juvenile Polyposis Syndrome (JPS)

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OMIM 57 174900 Disease Ontology 12 DOID:0050787 Orphanet 59 ORPHA2929 ICD10 via Orphanet 34 D12.6 UMLS via Orphanet 74 C0345893

MedGen 42 C0345893 C1832940 C1868081 KEGG 37 H01023 SNOMED-CT via HPO 69 263681008 367004 36440009 432788009 165397008 271737000 21522001 57773001 236068001 405729008 35327006 49723003 166690008 43339004 363406005 119247004 78809005 87252009 254570009 408644002 more UMLS 73 C0345893 C4025294

NIH Rare Diseases : ⁵³ Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract. A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp and not the age at which the polyps develop. Most people with JPS have some polyps by the age of age 20. The number of polyps in affected people vary. While some people may have only four or five polyps over their lifetime, others (even in the same family) may have more than 100. If the polyps are left untreated, they can result in bleeding and anemia. Most juvenile polyps are benign, although over time they can become cancerous. In families with JPS, the risk for developing a GI cancer ranges from 9% to 50%. Most of this risk is due to colon cancer. The incidence of colorectal cancer in people with JPS is 17%-22% by the age of 35 and as high as 68% by the age of 60. Cancers of the stomach, upper GI tract, and pancreas have also been observed. To date, mutations in two genes are known to cause JPS: BMPR1A and SMAD4.  Management of JPS includes routine colonoscopy with removal of any polyps to reduce the risk of bleeding, intestinal obstruction, and colon cancer. When the number of polyps is large, removal of all or part of the colon or stomach may become needed. Additional screening can include upper endoscopy, complete blood count, and monitoring for symptoms such as rectal bleeding and/or anemia abdominal pain, constipation, diarrhea, or change in stool size, shape, and/or color.

MalaCards based summary : Juvenile Polyposis Syndrome, also known as juvenile intestinal polyposis, is related to juvenile polyposis of infancy and polyposis, skin pigmentation, alopecia, and fingernail changes. An important gene associated with Juvenile Polyposis Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. The drugs Pancrelipase and Metformin have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and brain, and related phenotypes are failure to thrive and hypokalemia

Disease Ontology : ¹² An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.

Genetics Home Reference : ²⁵ Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.

OMIM : ⁵⁷ 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 syndrome-1 (158350). 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. (174900)

UniProtKB/Swiss-Prot : ⁷⁵ Juvenile polyposis syndrome: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.

Wikipedia : ⁷⁶ Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in... more...

GeneReviews: NBK1469

Clinical features from OMIM:

174900

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance	GR00210-A	9.46	APC BMPR1A PTEN STK11
2	Decreased sensitivity to paclitaxel	GR00112-A-0	8.96	PTEN SMAD4
3	Increased mitotic index	GR00110-A-0	8.8	BMPR1A SMAD4 STK11

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