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Diseases

Genetic and Rare Diseases Information Center (GARD)

Von Hippel-Lindau disease


Other Names for this Disease
  • VHL syndrome
  • VHL
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
  • Familial cerebelloretinal angiomatosis
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Cause

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What causes Von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.[1]
Last updated: 2/2/2016

References
  1. Von Hippel-Lindau Syndrome. Genetics Home Reference. July, 2012; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome.


Other Names for this Disease
  • VHL syndrome
  • VHL
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
  • Familial cerebelloretinal angiomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.