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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.
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.
Von Hippel–Lindau disease: It can be associated with Von Hippel–Lindau disease and is a rare genetic multi-system disorder characterized by the abnormal growth of tumours in the body. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure.
It is usually solitary and found in the body or tail of the pancreas, and may be associated with von Hippel–Lindau syndrome. [2] In contrast to some of the other cyst-forming tumors of the pancreas (such as the intraductal papillary mucinous neoplasm and the pancreatic mucinous cystadenoma), serous cystic neoplasms are almost always entirely ...
The von Hippel–Lindau tumor suppressor gene generally has a germline mutation. This suppressor gene is also called elongin binding protein and G7 protein. The VHL protein is involved in up-regulation of hypoxic response via the [[hypoxia inducible factor [HIF]-1 alpha]]. Mutations generally prevent the production of any functional VHL protein ...
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Hereditary bilateral, multifocal kidney tumors similar to those seen in BHD can occur with von Hippel–Lindau disease (clear cell renal cell carcinoma), hereditary papillary renal cancer (papillary renal cell carcinoma), and hereditary leiomyomatosis and renal cell cancer syndrome. They are differentiated with examination of the tumors' histology.
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