Genetic Disorder Reference Sheet: Von Hippel-Lindau Syndrome

An inherited disorder characterized by the formation of benign and malignant tumors and cysts throughout the body, Von Hippel-Lindau syndrome (VHL) occurs with an altered VHL tumor suppressor gene with autosomal dominant transmission. Estimated incidence is 1 in 36,000 people, both males and females equally, and the mean age of onset is 26 years. About 20% of patients with VHL are the first person in their family to have the pathogenic variant (i.e., de novo). The diagnosis is made with germ­line biomarker testing.