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Von Hippel Lindau

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Von Hippel Lindau

An inherited disorder characterized by the formation of tumours and fluid-filled sacs (cysts) in many different parts of the body. Tumours may be either non-cancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

Von Hippel-Lindau is caused by changes in the VHL gene which normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. A change in the VHL gene can be passed on to family members in an autosomal dominant pattern and increase an individual’s risk of developing tumours or cysts. However, the second copy of the VHL gene must be altered in order to trigger tumour and cyst formation in von Hippel-Lindau syndrome. This second change can occur at any point in a person’s life.

Information from Genetics Home Reference, US National Library of Medicine: Von Hippel Lindau

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