Von Hippel-Lindau (VHL) SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.
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.
Umberto Capitanio practices practicing medicine in Milan, Italy. Mr. Capitanio is rated as an Elite expert by MediFind in the treatment of Von Hippel-Lindau (VHL) Syndrome. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Renal Cell Carcinoma (RCC), Prostate Cancer, Von Hippel-Lindau (VHL) Syndrome, Nephrectomy, and Prostatectomy.
Francesco Montorsi practices practicing medicine in Milan, Italy. Mr. Montorsi is rated as an Elite expert by MediFind in the treatment of Von Hippel-Lindau (VHL) Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Prostate Cancer, Bladder Cancer, Renal Cell Carcinoma (RCC), Prostatectomy, and Cystectomy.
Rogel Cancer Center
Tobias Else is an Endocrinologist practicing medicine in Ann Arbor, Michigan. Dr. Else is rated as an Elite provider by MediFind in the treatment of Von Hippel-Lindau (VHL) Syndrome. He is also highly rated in 105 other conditions, according to our data. His clinical expertise encompasses Adrenal Cancer, Adrenocortical Carcinoma, Adrenal Gland Adenoma, Neuroendocrine Tumor, and Thyroidectomy. Dr. Else is board certified in Endocrinology, Diabetes & Metabolism and Internal Medicine. Dr. Else is currently accepting new patients.
Background: \- To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some pe...
Summary: Researchers are looking for new ways to treat advanced solid tumors and von Hippel-Lindau (VHL)-related tumors: * Advanced means the cancer has spread to other parts of the body (metastatic) or cannot be removed with surgery * Solid tumors are cancers mostly in body organs and tissues, not in the blood or other body liquids * VHL-related tumors are tumors caused by VHL disease. VHL disease is pass...
Published Date: October 01, 2018
Published By: National Institutes of Health