Polyposis, Juvenile Intestinal malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases
Aliases & Descriptions for Polyposis, Juvenile Intestinal:
Orphanet epidemiological data:53
juvenile polyposis syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy
generalized juvenile polyposis/juvenile polyposis coli:
Inheritance: Autosomal dominant; Age of onset: All ages
polyposis, juvenile intestinal:
Inheritance: autosomal dominant inheritance
Penetrance: no studies have examined the proportion of individuals with known germline pathogenic variants for jps who develop polyps. it is expected to be higher than 90%; however, some family members may not develop polyps until middle age. in some instances, hht-related symptoms in individuals with smad4 pathogenic variants may be present prior to the onset of polyps [author, personal observations]...
Global: Genetic diseases, Rare diseases
Anatomical: Gastrointestinal diseases
Rare gastroenterological diseases
NIH Rare Diseases:47 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. Last updated: 5/11/2015
MalaCards based summary: Polyposis, Juvenile Intestinal, also known as juvenile polyposis syndrome, is related to colorectal cancer and pancreatic cancer, and has symptoms including malabsorption, gastrointestinal hemorrhage and intestinal polyposis. An important gene associated with Polyposis, Juvenile Intestinal is SMAD4 (SMAD Family Member 4), and among its related pathways are IL-2 Gene Expression in Activated and Quiescent T-Cells and ALK2 signaling events. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are liver/biliary system and limbs/digits/tail.
Disease Ontology:11 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:51 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of... (174900) more...
UniProtKB/Swiss-Prot:69 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.
GeneReviews for NBK1469
Human phenotypes related to Polyposis, Juvenile Intestinal:63 (show all 34)
Interventional clinical trials:
Search NIH Clinical Center for Polyposis, Juvenile Intestinal
MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:35
Colon, Small intestine, Pancreas, Smooth muscle, Heart, Brain, Skin
MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal:40 (show all 25)
UniProtKB/Swiss-Prot genetic disease variations for Polyposis, Juvenile Intestinal:69 (show all 11)
Clinvar genetic disease variations for Polyposis, Juvenile Intestinal:5 (show all 81)
Search GEO for disease gene expression data for Polyposis, Juvenile Intestinal.
Pathways related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:(show all 21)
Cellular components related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:
Biological processes related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:(show all 31)
Molecular functions related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet