von Hippel-Lindau disease: a clinical and scientific review

Eamonn R Maher, Hartmut Ph Neumann, Stéphane Richard

Research output: Contribution to journalReview articlepeer-review


The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.

Original languageEnglish
Pages (from-to)617-23
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number6
Publication statusPublished - 9 Mar 2011


  • Adrenal Gland Neoplasms
  • Carcinoma, Renal Cell/diagnosis
  • Genes, Dominant
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Hemangioblastoma/diagnosis
  • Humans
  • Magnetic Resonance Imaging
  • Mass Screening
  • Pheochromocytoma/diagnosis
  • Von Hippel-Lindau Tumor Suppressor Protein/genetics
  • von Hippel-Lindau Disease/complications


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