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Genetic syndromes and other conditions

Von Hippel-Lindau disease (VHL)

An inherited disease. Growths and cysts form in organs such as the brain, spinal cord, eyes, kidneys and pancreas. Some of the growths can be cancer.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Genetic syndromes and other conditions” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The VHL gene stops cells from multiplying out of control. When the gene does not work, growths and fluid-filled sacs, called cysts, form in many organs. The growths most often appear at a young age. But symptoms can begin at any age.

Which symptoms can occur?

Symptoms vary depending on where the growth is.

  • Headache, vomiting and weakness due to growths in the brain or spinal cord
  • Problems with balance and hand–foot coordination
  • Loss of vision due to growths in the eye
  • Cysts in the kidneys and pancreas (common)
  • An increased risk of kidney cancer
  • A growth in the adrenal gland; sweating, headache and high blood pressure
  • Hearing loss due to a growth in the inner ear (in about 1 in 10 people)

How is it diagnosed?

The diagnosis is made with a genetic test of the VHL gene. Finding a growth typical of VHL also leads to the diagnosis. After diagnosis, regular screening begins even if there are no symptoms.

Treatment and care

Small growths are easier to treat. This is why regular MRI, eye, and blood and urine screening is done. Growths are usually removed with surgery; care is taken to save the organ. For growths in the eye, laser or freezing treatment is used. There is also an approved medicine treatment specifically for the disease for some growths. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is passed on through dominant inheritance. For each child of an affected parent, the chance of passing it on is 1 in 2. Most people get the gene from an affected parent. About one in five have a new change. Genetic testing and counselling are recommended for family members at risk.

Source: MedlinePlus Genetics: Von Hippel-Lindau syndrome · NORD: Von Hippel-Lindau Disease

Key facts

How is it inherited?
Autosomal dominant
When does it usually start?
Adolescence, Adulthood, Childhood
Gene(s) involved
VHL

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about VHL

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 11 active interventional studies for this disease. 8 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:892

No separate ICD-11 code; WHO classifies this disease under: 5A75

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.