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|
|Neoplasm of the colon||
|Neoplasm of the nervous system||
Tumor of the nervous system
|Neoplasm of the pancreas||
Cancer of the pancreas
Pancreatic tumor[ more ]
|Neoplasm of the skin||
Tumor of the skin[ more ]
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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 hereditary breast and ovarian cancer syndrome and constitutional mismatch repair deficiency syndrome (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My children are undergoing a genetic test for Li-Fraumeni syndrome because their father was believed to have it. If they have this condition, what happens when they want to start a family to make sure this condition is not passed on? See answer
How does this syndrome begin in a lineage? Is the TP53 gene mutation a sudden and spontaneous mutation at conception? Does it have environmental causes? Is it a gradual generational erosion of gene integrity finally resulting in the full mutation that causes this syndrome? Are some TP53 genes mutated worse than others? We are trying to trace this through our family tree. See answer
If my father had a TP53 mutation, does that mean all his children have the mutation or each has a 50% chance of having it? If my father had the mutation and I do not have it, do my own children have a chance of having it or are they and all successive generations in the clear? If my family clearly meets the criteria for diagnosing this condition, but no one demonstrates the TP53 mutation in genetic testing, is it possible to determine if a given relative never diagnosed with cancer has the predisposition? See answer