Von hippel-lindau syndrome

Causes

What gene changes cause von Hippel-Lindau syndrome?

Von Hippel-Lindau syndrome is caused by gene changes or mutations in the VHL gene. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. When there is an unexpected change in a gene, the function organized by the gene will not occur properly. The VHL gene is classified as a tumor suppressor gene because it plays a role in the regulation of other genes and control of cell division. One of its jobs is to prevent cells from growing and dividing too rapidly or in an uncontrolled way. Another role is the formation of the extracellular matrix that provides structural support to tissues in the spaces between cells. Accordingly, a nonworking VHL results in cells and the matrix between them growing abnormally and lead to cysts and tumors.

To find a medical professional nearby who can discuss information about gene changes in the VHL gene and von Hippel-Lindau syndrome, a listing of medical geneticists can be found at the American College of Medical Geneticists website. Genetic counselors can be found in a particular area by searching on the National Society of Genetic Counselor's website

References
  • Von Hippel-Lindau syndrome. Online Mendelian Inheritance in Man (OMIM) website. Accessed September 8, 2016. http://omim.org/entry/193300
  • Von Hippel-Lindau syndrome. Genetics Home Reference website. Accessed September 8, 2016. https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
Show More Content Like This

More Causes Content

How does the gene change cause symptoms in von Hippel-Lindau syndrome?

Can you have von-Hippel Lindau without a gene mutation?

What makes von-Hippel Lindau worse?

How does the gene change cause symptoms in von Hippel-Lindau syndrome?

Von Hippel-Lindau (VHL) syndrome is caused by a change in a gene called VHL. The VHL gene is a tumor suppressor gene. These types of genes help to control the growth and life cycle of cells. Specifically, they can influence how cells grow and divide and ensure that cells die off at the proper time. The VHL gene produces a protein called the VHL protein. This protein is involved in controlling how cells grow and divide and die off. Without this protein, certain cells may grow and divide rapidly and/or in an uncontrolled manner. This leads to the development of the tumors and cysts that affect people with VHL.

References
  • 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/
Can you have von-Hippel Lindau without a gene mutation?

Von Hippel-Lindau (VHL) syndrome is typically identified based on clinical features and/or finding a disease-causing or pathogenic variant in the VHL via genetic testing. Signs and symptoms of VHL can be found via physical exam, lab testing on blood and urine, or imaging (like ultrasound or magnetic resonance imaging (MRI). Some key findings that can lead to a diagnosis of VHL include:

  • A family history of VHL
  • A hemangioblastoma (non-cancerous tumors are made of newly-formed blood vessels) of the retina, spine, or brain
  • Multiple kidney or pancreatic cysts (sacs of fluid)
  • Renal cell carcinoma (a type of kidney cancer)
  • Pheochromocytomas (a tumor of the adrenal gland that often causes high blood pressure)
  • 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)

Not everyone who has VHL has a pathogenic variant found on their initial genetic test. The typical first test, referred to as a gene sequencing test or "spell-checking" of the VHL gene identifies a change in 85% of individuals with a clinical diagnosis of VHL. An additional genetic test, called genetic deletion/duplication testing, may be required next to look for large added or deleted chunks of DNA. This test can find an additional 11% of disease causing gene changes in an individual who tests negative on a VHL gene sequencing test. Having said this, having a disease causing gene change in the VHL gene or a diagnosis of von-Hippel Lindau (VHL) syndrome does not guarantee that someone will get cancer. Although cancer risks are much higher for those who have been diagnosed with VHL, not everyone who has it will go on to develop cancer.

References
  • Accessed on October 19, 2019: GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1463/)
  • 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/
What makes von-Hippel Lindau worse?

Individuals with VHL may wish to exposures that can increase the chance for cancer or disease complications such as:

  • Tobacco products since they are considered a risk factor for kidney cancer.
  • Chemicals and industrial toxins known to affect VHL-involved organs should be avoided.
  • Contact sports should be avoided if adrenal or pancreatic lesions are present.
References
  • Accessed on October 19, 2019: GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1463/)
  • 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/

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me