Von Hippel–Lindau disease

Von Hippel–Lindau disease
Other namesFamilial cerebello retinal angiomatosis
Locations of the main types of cysts and tumors in Von Hippel–Lindau disease.
SpecialtyMedical genetics, neurology 

Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.

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