Von Hippel-Lindau disease (VHL) is a rare genetic disorder associated with an increased risk of developing certain tumors. People who have VHL disease may have tumors and/or cysts in up to ten parts of the body, including the brain, spine, eyes, kidneys, pancreas, adrenal glands, inner ears, reproductive tract, liver and lung.
Most VHL tumors are benign (not cancerous), but benign VHL tumors can still be very serious. As they grow, these tumors and the associated cysts can cause increased pressure on the structure around them. This pressure can create symptoms including severe pain or other problems.
VHL disease is caused by a deletion or disease-causing change (variant) in the VHL gene. VHL disease is different in every affected person, even within the same family. Since it is impossible to predict how and when the disease will present for each person, it is important to check regularly for possible VHL manifestations throughout a person’s lifetime.
Every day matters for patients, researchers, and families who rely on NORD's trusted information.
We can’t keep these resources free and growing without your help.
Please donate today — and power the future of rare disease progress.
Whether you’re a patient, researcher, student, or advocate — we’re here for you.
If you’ve found NORD’s resources helpful, please consider donating.
Your support keeps this information free, updated, and available for everyone who needs it.