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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Von Hippel-Lindau disease


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


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What causes Von Hippel-Lindau disease?

VHL disease is caused by a mutation (alteration) in the VHL gene.[1] 

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 VHL disease.[2][1]
Last updated: 5/20/2013

References
  1. Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome. Accessed 7/5/2011.
  2. Schimke RN, Collins DL, and Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews Web site. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vhl. Accessed 2/9/2009.