2. Academic Validation
  3. von Hippel-Lindau disease: a clinical and scientific review

von Hippel-Lindau disease: a clinical and scientific review

  • Eur J Hum Genet. 2011 Jun;19(6):617-23. doi: 10.1038/ejhg.2010.175.
Eamonn R Maher 1,  Hartmut Ph Neumann,  Stéphane Richard
Affiliations

Affiliation

  • 1 Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Institute of Biomedical Research, Birmingham, UK. [email protected]
PMID: 21386872 DOI: 10.1038/ejhg.2010.175
Abstract

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.

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