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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 ...
Some common symptoms of VHL disease include: headaches. poor balance. dizziness. weakness in your limbs. hearing loss in one ear. high blood pressure. The onset of symptoms from VHL disease can ...
A hemangioblastoma tends to press against the cerebellum and brainstem. Common symptoms of one include: Headache. Loss of coordination. Imbalance. Nausea. Vomiting. The cerebellum is a small area ...
Hemangioblastoma are among the rarest central nervous system tumors, accounting for less than 2%. Hemangioblastomas usually occur in adults, yet tumors may appear in VHL syndrome at much younger ages. Men and women are approximately at the same risk.
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The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the VHL gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease, which is characterized by hemangioblastomas of the brain, spinal cord and retina. It is also associated with kidney and pancreatic lesions.
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