Von Hippel-Lindau disease

Vicki Couch, Noralane M. Lindor, Pamela S. Karnes, Virginia V. Michels

Research output: Contribution to journalReview articlepeer-review

78 Scopus citations


An autosomal dominant tumor predisposition syndrome, von HippeI-Lindau disease (VHL) is characterized by the presence of benign and malignant tumors. Hallmark lesions include retinal angiomas, hemangioblastomas of the cerebellum and spinal cord, and renal cell carcinomas. Affected persons may also have angiomatous or cystic lesions of the kidneys, pancreas, and epididymis, as well as adrenal pheochromocytomas. In this article, we discuss the clinical features and diagnostic criteria for this clinically underdiagnosed condition. An update on recent findings regarding the molecular genetics of VHL is provided, including a discussion of the evolving understanding of genotype-phenotype correlations. Understanding the molecular and functional aspects of this condition will lead to the development of strategies for the management and treatment of inherited and sporadic VHL- associated tumors.

Original languageEnglish (US)
Pages (from-to)265-272
Number of pages8
JournalMayo Clinic proceedings
Issue number3
StatePublished - 2000

ASJC Scopus subject areas

  • General Medicine


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