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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 ...
The most common cause of death in people with VHL disease is a type of slow-growing tumor in your central nervous system called hemangioblastoma. This type of tumor occurs in 13 to 72 percent of ...
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.
VHL normally functions as a tumor suppressor gene and thus when not functioning normally results in the development of benign and malignant tumors as well as cysts. Some of the most common manifestations include hemangioblastomas in the retina and central nervous system, clear cell renal cell carcinomas , pheochromocytomas , endolymphatic sac ...
Around 20% to 25% of hemangioblastoma cases are caused by VHL. It affects 1 in 36,000 people. Hemangioblastomas are usually single tumors. Multiple tumors can appear. But that typically happens ...
This can cause increased head size in infants. Other symptoms of ependymomas are: nausea and vomiting (more frequent in the morning) low energy. irritability. difficulty walking (an ependymoma can ...
Benign. The tumor doesn’t contain cancerous cells. Premalignant or precancerous. It contains abnormal cells that have the potential to become cancerous. Malignant. The tumor contains cancerous ...
Belzutifan is indicated for treatment of adults with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumors (pNET), not requiring immediate surgery.
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