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.

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Photos of affected individuals

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  • 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

Symptoms

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

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