VHL Disease

Marta Barontini, Patricia L.M. Dahia

Research output: Contribution to journalReview articlepeer-review

48 Scopus citations


von Hippel-Lindau disease (VHL) disease increases susceptibility to several malignancies, including renal cell carcinoma, haemangioblastomas of the central nervous system or retina and phaeochromocytomas. The VHL tumour suppressor gene, responsible for the disease, encodes for a major regulator of the hypoxic response by targeting the transcription factor hypoxia inducible factor (HIF) for degradation. In this review, we present a synopsis of clinical features of the disease and emphasise unique aspects of VHL syndrome in the paediatric population. Genotype-phenotype associations based on the risk of phaeochromocytoma have pointed to the existence of additional, HIF-independent functions of VHL that remain underexplored. We also examine the progress on these pleiotropic roles of VHL, which contribute to explain clinical features of VHL disease. These advances have important translational implications and are likely to offer a new host of therapeutic options to individuals affected by the disease in the future.

Original languageEnglish (US)
Pages (from-to)401-413
Number of pages13
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number3
StatePublished - Jun 2010


  • HIF
  • VHL
  • angiogenesis
  • haemangioblastoma
  • hereditary tumour
  • hypoxia
  • paraganglioma
  • phaeochromocytoma
  • renal carcinoma
  • von Hippel-Lindau disease

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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