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Von Hippel-Lindau disease

An evidence-led atlas of VHL hereditary tumor predisposition, organ-specific risks, molecular diagnosis, lifelong surveillance, and organ-preserving care.

von Hippel-Lindau disease · VHL syndrome

MONDO:0008667Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 1d89e9715eb3

Disease class
VHL disease is a hereditary tumor-predisposition disorder increasing benign and malignant tumor risks in multiple organs.
Core mechanism
It is caused by a germline pathogenic VHL variant and is inherited in an autosomal-dominant manner.
Genes or cause
Tumor types, age at onset, and severity can vary substantially within a family.
Typical features
Retinal and CNS hemangioblastomas, clear-cell renal carcinoma, and renal cysts are major manifestations.
Variability
Pheochromocytoma, pancreatic cysts or neuroendocrine tumors, and endolymphatic-sac tumors can also occur.
Diagnosis
Diagnosis can be established by clinical criteria or a heterozygous pathogenic VHL variant.
Management
A variant of uncertain significance alone neither confirms nor excludes VHL disease.
Treatment and research
Age-based surveillance repeats retinal examination, brain and spine MRI, abdominal imaging, blood pressure and metanephrines, and hearing tests.
Reading evidence
Renal tumors are managed by size, growth, and location with an emphasis on preserving kidney function.
Key caution
Symptomatic or growing CNS lesions may require surgery or other specialist treatment.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a glance

VHL disease is a hereditary tumor-predisposition disorder increasing benign and malignant tumor risks in multiple organs.

Retinal and CNS hemangioblastomas, clear-cell renal carcinoma, and renal cysts are major manifestations.

How the disease works

It is caused by a germline pathogenic VHL variant and is inherited in an autosomal-dominant manner.

Tumor types, age at onset, and severity can vary substantially within a family.

Why experiences vary

Pheochromocytoma, pancreatic cysts or neuroendocrine tumors, and endolymphatic-sac tumors can also occur.

Diagnosis and management

Diagnosis can be established by clinical criteria or a heterozygous pathogenic VHL variant.

Treatment status

A variant of uncertain significance alone neither confirms nor excludes VHL disease.

Age-based surveillance repeats retinal examination, brain and spine MRI, abdominal imaging, blood pressure and metanephrines, and hearing tests.

Reading clinical trials

Lifelong multidisciplinary care involves genetics, ophthalmology, neurosurgery, urology, endocrinology, and hearing specialists.

Topics for a clinical visit

Clinical discussion should cover germline testing, current lesions, surveillance schedule, organ-preserving treatment, and family testing.

Medical notice

This material is for disease education and is not a personal diagnosis or treatment instruction.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.