Von hippel-lindau syndrome


What is von Hippel-Lindau syndrome?

Von Hippel-Lindau (VHL) syndrome is a rare inherited disorder caused by changes (alterations) in a gene called VHL. In VHL, benign (non-cancerous) tumors, cancerous tumors, and cysts develop in different parts of the body. These may include:

  • Hemangioblastomas: 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.
  • Renal (kidney) cysts: sacs of fluid that form in the kidneys
  • Clear Cell Renal cell carcinomas: a type of kidney cancer
  • Pheochromocytomas: a tumor of the adrenal gland that often causes high blood pressure.
  • Pancreatic cysts: sacs of fluid that form in the pancreas
  • Neuroendocrine tumors: cancer of the neuroendocrine cells
  • Endolymphatic sac tumors: rare tumors of the petrous temporal bone found at the base of the skull
  • Epididymal cysts: sacs of fluid that form in the epididymis (tightly coiled tube in men where the sperm matures).
  • Broad ligament cysts: sacs of fluid that form in the female pelvis

The symptoms of VHL usually become apparent during young adulthood. VHL can be very different in one person when compared to another, even among members of the same family.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/von-hippel-lindau-syndrome/overview/42893 • DATE UPDATED: 2019-11-27


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/

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