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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 ...
Von Hippel-Lindau disease is a genetic disorder that’s most often inherited, but could also be a de novo genetic mutation. It causes your VHL proteins to be faulty, which then leads to ...
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.
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.
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 ...
VHL causes a mutation of the VHL gene. This leads to the growth of benign tumors in many different parts of the body. The condition is diagnosed at an early age. There is no cure or prevention for ...
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A gluten-free diet can be healthy and satisfying, but you need to know what foods to avoid and what to enjoy. This article provides a comprehensive list of 84 gluten-free foods, as well as tips on ...