This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Von Hippel-Lindau syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Von Hippel-Lindau (VHL) disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3.

  • the von Hippel-Lindau tumor suppressor gene (VHL) is located on the short arm of chromosome 3 (3p25-26) (1)

Von Hippel-Lindau disease is a hereditary cancer syndrome predisposing carriers to the development of a panel of highly vascularized tumours such as central nervous system and retinal hemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas, pheochromocytomas and pancreatic neuroendocrine tumors. The disease is the foremost cause of inherited renal cell carcinomas, which is induced by germline mutations of the VHL tumor-suppressor gene also inactivated in most sporadic renal cell carcinomas.

This disorder is not rare (2):

  • about one in 36000 livebirths
  • inherited as a highly penetrant autosomal dominant trait (ie, with a high individual risk of disease) with a high carriage rate of the causative gene in close relatives

Mean age at diagnosis is the mid-20s, often with retinal angioma as the first manifestation (3)


Related pages

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.