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VHL syndrome (Von Hippel-Lindau syndrome) is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. In families with a medical history of VHL syndrome, the presence of one tumor associated with the disorder is considered diagnostic.
Genetic testing involves studying the VHL gene for disease-causing changes (variants or mutations). All that’s needed for this test is a blood sample.
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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 (a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes) that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
Von Hippel–Lindau disease – Wikipedia
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