Children's Hospital Colorado

Von Hippel-Lindau Disease

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What is Von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) disease is a rare, genetic multisystem disorder in which cancerous and non-cancerous tumors grow in different parts of the body. A multisystem disorder or disease means that it affects multiple organs and tissues within the body.

Children with VHL disease are at a higher risk of developing kidney cancer (renal cell carcinoma) and kidney cysts. Slow-growing hemangioblastomas tumors, which have many blood vessels, may develop in the brain, spinal cord, retinas of the eyes and near the inner ear. Cysts (fluid-filled sacs) may also develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands located at the top of the kidney (pheochromocytomas) or the pancreas.

What causes Von Hippel-Lindau disease?

VHL is an autosomal dominant condition that can be inherited or can arise as a new genetic mutation. The mutation affects the VHL gene on chromosome 3, which leads to the loss of control over cellular growth in certain parts of the body.

Who gets Von Hippel-Lindau disease?

The disease is caused by a genetic mutation, which can be inherited, or passed on, from a parent or relative. It can also form as a new genetic mutation, meaning that it did not previously exists in a relative. Genes are made up of deoxyribonucleic acid (DNA), which is the blueprint for how your body is formed and how it functions.

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