Von Hippel–Lindau disease
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Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement.[3] 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.[4][5][6]
Quick Facts Other names, Specialty ...
Von Hippel–Lindau disease | |
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Other names | Familial cerebello retinal angiomatosis[1] |
Locations of the main types of cysts and tumors in Von Hippel–Lindau disease.[2] | |
Specialty | Medical genetics, neurology |
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