What is the cause of von Hippel-Lindau (VHL) disease?

Updated: Jul 20, 2020
  • Author: Michael A Blake, MBBCh, MRCPI, FRCR; Chief Editor: George T Griffing, MD  more...
  • Print

VHL disease is caused by mutations in the VHL gene. [16]  This gene encodes a protein that plays a role in cilia formation, regulation of cellular senescence, and the oxygen-sensing pathway.

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!