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Disease Profile
Peutz-Jeghers 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.
1-9 / 1 000 000
Age of onset
Adolescent
ICD-10
Q85.8
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)
Polyposis, hamartomatous intestinal; PJS; Polyps-and-spots syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;
Summary
Peutz-Jeghers
Symptoms
People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported
Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older.[1][2]
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal pigmentation of the oral mucosa | 0100669 | |
Gastrointestinal carcinoma | 0002672 | |
Multiple lentigines | 0001003 | |
30%-79% of people have these symptoms | ||
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
5%-29% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Abnormality of the gallbladder | 0005264 | |
Abnormality of the ureter | 0000069 | |
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
Biliary tract neoplasm | 0100574 | |
Breast carcinoma |
Breast cancer
|
0003002 |
Cervix cancer | 0030079 | |
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
Esophageal neoplasm |
Esophageal tumor
|
0100751 |
Gastrointestinal infarctions |
Death of digestive organ tissue due to poor blood supply
|
0005244 |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
Melanonychia | 0100644 | |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Nasal polyposis | 0100582 | |
Neoplasm of the colon |
Colon tumor
|
0100273 |
Neoplasm of the lung |
Lung tumor
|
0100526 |
Neoplasm of the nose |
Nasal tumor
Nose cancer
Tumor of the nose
[ more ] |
0012720 |
Neoplasm of the rectum |
Rectal tumor
|
0100743 |
Neoplasm of the small intestine |
Small intestine tumor
|
0100833 |
Pancreatic adenocarcinoma | 0006725 | |
Rectal prolapse |
Rectum protrudes through anus
|
0002035 |
Renal |
Cancer starting in small tubes in kidneys
|
0005584 |
Stomach cancer | 0012126 | |
Vomiting |
Throwing up
|
0002013 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Biliary tract abnormality | 0001080 | |
Bladder polyp | 0031261 | |
Clubbing |
Clubbing of fingers and toes
|
0001217 |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] |
0100759 |
Enlarged male breast
|
0000771 | |
Hamartomatous polyposis | 0004390 | |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
Intestinal bleeding | 0002584 | |
Intussusception | 0002576 | |
Iron deficiency anemia | 0001891 | |
Labial melanotic macule | 0032454 | |
Neoplasm of the pancreas |
Cancer of the pancreas
Pancreatic tumor
[ more ] |
0002894 |
Oral melanotic macule | 0032451 | |
Ovarian cyst | 0000138 | |
Precocious puberty with Sertoli cell tumor | 0008204 | |
Uterine neoplasm |
Uterine tumor
|
0010784 |
Cause
Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.[4]
Diagnosis
GeneReviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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
|
---|
Differential diagnoses include juvenile polyposis syndrome, hereditary mixed polyposis syndrome, the PTEN hamartoma tumor syndromes, and Carney complex.
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.
Social Networking Websites
- Peutz-Jeghers Syndrome Online Support Group is an online discussion forum where members dealing with Peutz-Jeghers Syndrome can share advice and support with other patients and caregivers.
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org -
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
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Peutz-Jeghers syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Peutz-Jeghers syndrome. Click on the link to view a sample search on this topic.
References
- Thomas J McGarrity, MD, Christopher I Amos, PhD, Marsha L Frazier, PhD, and Chongjuan Wei, PhD. Peutz-Jeghers Syndrome. GeneReviews. July 2013; https://www.ncbi.nlm.nih.gov/books/NBK1266/.
- Thomas M Attard, MD, FAAP, FACG. Peutz-Jeghers Syndrome. Medscape Reference. December 2014; https://emedicine.medscape.com/article/182006-overview.
- Dawn Provenzale, MD, MS. Genetic/Familial High-Risk Assessment: Colorectal. National Comprehensive Cancer Network. February 2014; Accessed 3/15/2015.
- Peutz-Jeghers syndrome. Genetics Home Reference. February 2013; https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome.
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