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Disease Profile
Juvenile polyposis syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
JPS; Polyposis juvenile intestinal; PJI;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;
Summary
Juvenile polyposis
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
Management of JPS includes routine
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 |
|
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 |
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 |
|
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 |
|
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 |
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 |
| 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 | ||
| 0000006 | ||
| Hypoalbuminemia |
Low blood albumin
|
0003073 |
| Hypokalemia |
Low blood potassium levels
|
0002900 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The differential diagnosis should include other syndromes associated with polyposis including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, familial adenomatous polyposis and Peutz-Jeghers syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Hereditary Colon Cancer Foundation
3519 NE 15th Avenue
Unit 518
Portland, OR 97212
Telephone: +1-334-740-8657
E-mail: [email protected]
Website: https://www.hcctakesguts.org/
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
- Larsen Haidle J and JR Howe. Juvenile Polyposis Syndrome. GeneReviews. 05/22/2014; https://www.ncbi.nlm.nih.gov/books/NBK1469/.
- Juvenile polyposis syndrome. Genetics Home Reference (GHR). 10/2013; https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome.