von Hippel-Lindau disease: A clinical and scientific review.

Eamonn Maher; HP Neumann; S Richard

doi:10.1038/ejhg.2010.175

von Hippel-Lindau disease: A clinical and scientific review.

Eamonn Maher, HP Neumann, S Richard

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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.European Journal of Human Genetics advance online publication, 9 March 2011; doi:10.1038/ejhg.2010.175.

Original language	English
Journal	European Journal of Human Genetics
DOIs	https://doi.org/10.1038/ejhg.2010.175
Publication status	Published - 9 Mar 2011

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10.1038/ejhg.2010.175

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title = "von Hippel-Lindau disease: A clinical and scientific review.",

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.European Journal of Human Genetics advance online publication, 9 March 2011; doi:10.1038/ejhg.2010.175.",

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AB - 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.European Journal of Human Genetics advance online publication, 9 March 2011; doi:10.1038/ejhg.2010.175.

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von Hippel-Lindau disease: A clinical and scientific review.

Abstract

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