Von hippel-lindau syndrome
What is von Hippel-Lindau syndrome?
Von Hippel-Lindau (VHL) syndrome is a rare disorder in which tumors and cysts develop in different parts of the body. These tumors may be benign (non-cancerous) or cancerous. People may have tumors called hemangioblastomas. These tumors are made up of newly-formed blood vessels. The tumors are non-cancerous, but can cause serious problems depending on where in the body they are located, which often includes the brain, spinal cord or eyes. There is an increased risk of developing a form of kidney cancer called renal cell carcinoma. Some people develop a pheochromocytoma, a tumor of the adrenal gland. Pheochromocytomas may not cause symptoms or can cause high blood pressure. The symptoms of VHL usually become apparent during young adulthood. VHL can be very different in one person when compared to another. This is true even among members of the same family. The type of tumors or cysts that form may not be the same, and the severity of the disorder can also be very different. VHL is caused by changes (alterations) in a gene called VHL. This gene alteration can be passed on from parent to child.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/von-hippel-lindau-syndrome/overview/42893 • DATE UPDATED: 2016-09-27
Von Hippel-Lindau syndrome. Genetics Home Reference website. Accessed September 8, 2016. https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/