Learn About Von Hippel-Lindau (VHL) Syndrome

What is the definition of Von Hippel-Lindau (VHL) Syndrome?

Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

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What are the causes of Von Hippel-Lindau (VHL) Syndrome?

Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.

How prevalent is Von Hippel-Lindau (VHL) Syndrome?

The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.

Is Von Hippel-Lindau (VHL) Syndrome an inherited disorder?

Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.

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What are the latest Von Hippel-Lindau (VHL) Syndrome Clinical Trials?
A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas

Summary: The purpose of this study is to learn more about the growth of brain and spinal cord tumors and cysts that develop in association with them in patients with von Hippel-Lindau disease. It will examine how fast the tumors grow and try to determine what factors (for example, puberty , pregnancy, menopause, blood proteins, etc.) affect their growth. Patients between the ages of 8 and 75 years who are ...

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Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders

Summary: We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definiti...

Who are the sources who wrote this article ?

Published Date: October 01, 2018Published By: National Institutes of Health

What are the Latest Advances for Von Hippel-Lindau (VHL) Syndrome?
Spinal leptomeningeal hemangioblastomatosis occurring without craniospinal surgery in von Hippel-Lindau disease.
FDA Approval Summary: Belzutifan for von Hippel-Lindau Disease-Associated Tumors.
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Suprasellar paraganglioma in a clinical setting of von Hippel-Lindau syndrome.