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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
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Inheritance

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How is von Hippel-Lindau (VHL) disease inherited?

Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease.

In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease.[1]

In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition.[1] This is called a de novo mutation.

When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.