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Molecular biology and pathogenesis of von Hippel-Lindau disease

Sharon E Plon, MD, PhD
Eric Jonasch, MD
Section Editors
Michael B Atkins, MD
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Michael E Ross, MD


von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. VHL is diagnosed in approximately 1 in 36,000 people [1-3].

The initial manifestations of disease can occur in childhood or adolescence, or later (mean age approximately 26 years). The spectrum of VHL-associated tumors includes:

Hemangioblastomas of the central nervous system

Retinal hemangioblastomas

Clear cell renal cell carcinomas (RCCs)


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Literature review current through: Sep 2016. | This topic last updated: Nov 25, 2015.
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