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Disease Profile
Lynch 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
D48.9
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)
Colorectal cancer, hereditary nonpolyposis; Hereditary nonpolyposis colorectal cancer; HNPCC;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases;
Summary
Lynch
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Colon cancer | 0003003 | |
Constipation | 0002019 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Glioblastoma multiforme | 0012174 | |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Death in early adulthood | 0100613 | |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Depressivity |
Depression
|
0000716 |
Hypertonia | 0001276 | |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Irritability |
Irritable
|
0000737 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Muscular |
Low or weak muscle tone
|
0001252 |
Nausea and vomiting | 0002017 | |
Rectal tumor
|
0100743 | |
0001250 | ||
5%-29% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Agnosia | 0010524 | |
Amaurosis fugax | 0100576 | |
Basal |
0002671 | |
Benign neoplasm of the |
0100835 | |
Cardiac diverticulum | 0100571 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Difficulty articulating speech
|
0001260 | |
Dysgraphia | 0010526 | |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hepatocellular carcinoma | 0001402 | |
Intestinal polyposis | 0200008 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Neoplasm of the skeletal system |
Skeletal tumor
|
0010622 |
Neoplasm of the thyroid gland | 0100031 | |
Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
Ovarian neoplasm |
Ovarian tumor
|
0100615 |
Pancreatic adenocarcinoma | 0006725 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Pituitary adenoma |
Noncancerous tumor in pituitary gland
|
0002893 |
Urinary tract neoplasm | 0010786 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
Cause
Diagnosis
To read detailed diagnostic strategies, please visit the following link from GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1211/#hnpcc.Diagnosis
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative, launched by the CDC National Office of Public Health Genomics developed an evidence report for Lynch
syndrome entitled, Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Leucovorin(Brand name: Leucovorin calcium®) Manufactured by Bedford Laboratories
FDA-approved indication: For use in combination with 5-fluorouracil to prolong survival in the palliative treatment of patients with advanced colorectalcancer .
National Library of Medicine Drug Information Portal
Medline Plus Health 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 Supporting this Disease
-
AMC Cancer Research Center
3401 Quebec St, Suite 3200
Denver, CO 80207
Toll-free: 800-321-1557
Telephone: 303-233-6501
Fax: 303-239-3400
E-mail: [email protected]
Website: https://www.amc.org/ -
CCARE Lynch Syndrome
127 W. Oak
Unit C
Chicago, IL 60610
Telephone: 312-725-9769
Fax: 847-267-0746
E-mail: [email protected]
Website: https://www.fightlynch.org/ -
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 -
Cancer Hope Network
2 North Road, Suite A
Chester, NJ 07930
Toll-free: 1-877-467-3638 (1-877-HOPENET)
Telephone: +1-908-879-4039
Fax: +1-908-879-6518
E-mail: [email protected]/
Website: https://www.cancerhopenetwork.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
- Lynch Syndrome International (LSI) provides Lynch syndrome information For Survivors and For Professionals. Click on For Survivors or For Professionals to visit the LSI Web site and view the information pages.
- Genetics Home Reference (GHR) contains information on Lynch syndrome. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
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) lists the subtypes and associated genes for Lynch syndrome in a table called Phenotypic Series. Each entry in OMIM includes 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 Lynch syndrome. Click on the link to view a sample search on this topic.
References
- Lynch syndrome. Genetics Home Reference Web site. April 11, 2017; https://ghr.nlm.nih.gov/condition=lynchsyndrome.
- Kohlmann W & Gruber S. Lynch syndrome. GeneReviews. May 22, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1211/.
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