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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Colorectal cancer, hereditary nonpolyposis; Hereditary nonpolyposis colorectal cancer; HNPCC;
Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases;
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||
|80%-99% of people have these symptoms|
Pain in stomach
[ more ]
[ more ]
|30%-79% of people have these symptoms|
Excessive, persistent worry and fear
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder
[ more ]
|Death in early adulthood||0100613|
|Death in infancy||
Lethal in infancy
[ more ]
|Increased intracranial pressure||
Rise in pressure inside skull
Intermittent migraine headaches
[ more ]
Low or weak muscle tone
|Nausea and vomiting||0002017|
|5%-29% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
|Benign neoplasm of the
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
Difficulty articulating speech
Disorder of involuntary muscle movements
Flexed joint that cannot be straightened
[ more ]
[ more ]
Paralysis or weakness of one side of body
[ more ]
|Neoplasm of the skeletal system||
|Neoplasm of the thyroid gland||0100031|
Cancer of early nerve cells
Pins and needles feeling
[ more ]
Noncancerous tumor in pituitary gland
|Urinary tract neoplasm||0010786|
|Visual field defect||
Partial loss of field of vision
To read detailed diagnostic strategies, please visit the following link from GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1211/#hnpcc.Diagnosis
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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.
- 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
syndromeentitled, Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.
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 colorectal
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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.
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.
- 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.
- 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.