Von Hippel–Lindau disease

Also known as

  • VHL

A rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumours.

Condition details

Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with hemangioblastomas (blood vessel tumors) of the brain, spinal cord, and eye. The eye tumors are also called retinal angiomas. People with VHL also have an increased risk of developing clear cell renal cell carcinoma (a specific type of kidney cancer) and pheochromocytoma (a tumor of the adrenal gland). Kidney cysts (a closed sac usually filled with fluid), pancreatic cysts, epididymal cystadenomas (tumors near a man’s testicles), and endolymphatic sac tumors (tumors of the ear, which may cause hearing loss) are also features of VHL.

I would like to edit or add detail to this database entry

Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult


Affected genes identified to date

  • VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3. The official name of this gene is “von Hippel-Lindau tumor suppressor
  • E3 ubiquitin protein ligase.”

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

How many are affected?

1 in 36,000. About 20% of people with VHL do not have any family history of the condition. They have a de novo (new) mutation in the VHL gene.

Support groups and organisations

No groups found

Known experts

No experts found

I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here