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Disease Profile

Juvenile polyposis syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

D12.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

JPS; Polyposis juvenile intestinal; PJI;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;

Summary

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.[1][2]

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.[1][2] 

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.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Juvenile colonic polyposis
0012198
Juvenile gastrointestinal polyposis
0004784
Rectal polyposis
0100896
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Anemia
Low number of red blood cells or hemoglobin
0001903
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Multiple gastric polyps
0004394
Small intestinal polyposis
0030256
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Chronic fatigue
Chronic extreme exhaustion
0012432
Clubbing
Clubbing of fingers and toes
0001217
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

0100759
Colon cancer
0003003
Duodenal adenocarcinoma
0006771
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hamartomatous stomach polyps
0004795
Hematochezia
Rectal bleeding
0002573
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Intussusception
0002576
Large forehead
Increased size of forehead
0002003
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Neoplasm of the small intestine
Small intestine tumor
0100833
Rectal prolapse
Rectum protrudes through anus
0002035
Rectocele
0100822
Short chin
Decreased height of chin
Short lower third of face

[ more ]

0000331
Spontaneous, recurrent epistaxis
Recurring nosebleed
Spontaneous, recurrent nosebleed

[ more ]

0004406
Stomach cancer
0012126
1%-4% of people have these symptoms
Abnormal onset of bleeding
0040231
Anasarca
0012050
Brain abscess
0030049
Cerebral arteriovenous malformation
0002408
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Extrahepatic portal hypertension
0004941
Hemangioblastoma
0010797
Hepatic arteriovenous malformation
0006574
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoproteinemia
Decreased protein levels in blood
0003075
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Mucosal telangiectasiae
0100579
Multiple lipomas
Multiple fatty lumps
0001012
Narrow mouth
Small mouth
0000160
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

0002894
Protein-losing enteropathy
0002243
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonary arteriovenous malformation
0006548
Transient ischemic attack
Mini stroke
0002326
Visceral angiomatosis
0100761
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Hypoalbuminemia
Low blood albumin
0003073
Hypokalemia
Low blood potassium levels
0002900

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Juvenile polyposis syndrome. This website is maintained by the National Library of Medicine.

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile polyposis syndrome. Click on the link to view a sample search on this topic.

        References

        1. Larsen Haidle J and JR Howe. Juvenile Polyposis Syndrome. GeneReviews. 05/22/2014; https://www.ncbi.nlm.nih.gov/books/NBK1469/.
        2. Juvenile polyposis syndrome. Genetics Home Reference (GHR). 10/2013; https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome.