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Disease Profile
Muir-Torre 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
Adult
ICD-10
L72.8
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)
Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; Keratoacanthoma
Categories
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;
Summary
Muir-Torre
Symptoms
The most common internal
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 | ||
Adenoma sebaceum | 0009720 | |
30%-79% of people have these symptoms | ||
Colon cancer | 0003003 | |
Neoplasm of the stomach |
Stomach tumor
|
0006753 |
5%-29% of people have these symptoms | ||
Breast carcinoma |
Breast cancer
|
0003002 |
Endometrial carcinoma | 0012114 | |
Hematological neoplasm | 0004377 | |
Laryngeal carcinoma | 0012118 | |
Malignant genitourinary tract tumor | 0006758 | |
Neoplasm of the liver |
Liver cancer
Liver tumor
[ more ] |
0002896 |
Renal neoplasm |
Renal tumors
|
0009726 |
Salivary gland neoplasm | 0100684 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Basal |
0002671 | |
Benign gastrointestinal tract tumors |
Non-cancerous GI tumors
|
0006719 |
Benign genitourinary tract neoplasm | 0006778 | |
Carcinoma | 0030731 | |
Colonic diverticula | 0002253 | |
Duodenal adenocarcinoma | 0006771 | |
Sebaceous gland carcinoma | 0030410 |
Cause
Not everyone diagnosed with MTS will have a detectable mutation in one of these genes.[3] Other, unidentified genes may also play a role in the development of the condition.
Diagnosis
- History of one or more sebaceous
tumors - Age younger than 60 years at first presentation of sebaceous tumors
- Personal history of Lynch-related
cancers Family history of Lynch-related cancers[5]
The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have
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 Supporting this Disease
-
Colon Cancer Alliance
1025 Vermont Ave, NW
Suite 1066
Washington, DC 20005
Toll-free: (877) 422-2030 (Helpline)
Telephone: +1-202-628-0123 (Office)
Website: https://www.ccalliance.org/ -
Fight Colorectal Cancer
134 West Park Central Square
Suite 210
Springfield, MO 65806
Toll-free: 1-877-427-1211 (Helpline)
Telephone: +1-703-548-1225 (Office)
E-mail: [email protected]
Website: https://fightcolorectalcancer.org/ -
Lynch Syndrome International (LSI)
P.O. Box 19
Madison, CT 06443
E-mail: [email protected]
Website: https://lynchcancers.com/
If you would like someone to call you from LSI, please email the Executive Director ([email protected]) or a leave a message in the Facebook messaging section.
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.
- The American Society of Clinical Oncology provides information on Muir-Torre syndrome. Click on the link to view this information.
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 Muir-Torre syndrome. Click on the link to view a sample search on this topic.
References
- Torre-Muir syndrome. DermNet NZ. January 24, 2015; https://www.dermnetnz.org/systemic/torre-muir.html.
- Victor A. McKusick. MUIR-TORRE SYNDROME; MRTES. OMIM. October 10, 2014; https://www.omim.org/entry/158320.
- Muir-Torre Syndrome. Cancer.Net (American Society of Clinical Oncology). September, 2014; https://www.cancer.net/cancer-types/muir-torre-syndrome.
- Victor G Prieto. Muir-Torre Syndrome. Medscape. May 9, 2014; https://emedicine.medscape.com/article/1093640-overview.
- Patricia Tai. Muir-Torre syndrome. UpToDate. Waltham, MA: UpToDate; January 5, 2015;
- MSH2. Genetics Home Reference. May, 2013; https://ghr.nlm.nih.gov/gene/MSH2.
- Lynch Syndrome. GeneReviews. May 22, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1211/.
- Prieto VG. Muir-Torre syndrome. eMedicine. January 29, 2010; https://emedicine.medscape.com/article/1093640-overview. Accessed 6/2/2011.
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