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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.
Belzutifan, sold under the brand name Welireg, is an anti-cancer medication used for the treatment of von Hippel–Lindau disease-associated renal cell carcinoma. [9] [11] [12] [13] It is taken by mouth. [9] Belzutifan is an hypoxia-inducible factor-2 alpha (HIF-2α) inhibitor. [9] [14] [15]
Locations of the main types of cysts and tumors in Von Hippel–Lindau disease. [55] Von Hippel-Lindau (VHL) disease is an autosomal dominant condition caused by mutations of the VHL gene. [56] Approximately one-in-five cases are de novo rather than familial and it has nearly complete penetrance. [57] VHL occurs in an estimated 1 in 36,000 ...
Von Hippel–Lindau disease is a rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumors. The most common tumors in Von Hippel–Lindau disease are central nervous system and retinal hemangioblastomas, clear cell renal carcinomas, pheochromocytomas, pancreatic neuroendocrine tumours, pancreatic ...
Although not officially categorized as multiple endocrine neoplasia syndromes, Von Hippel–Lindau disease [2] and Carney complex [3] are two other autosomal dominant endocrine tumor syndromes with features that overlap the clinical features of the MEN syndromes.
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 ...
Gaucher's disease: Legius syndrome: Marfan syndrome: McCune–Albright syndrome: Multiple endocrine neoplasia type 1: Neurofibromatosis type 1: Neurofibromatosis type 1-like syndrome: Noonan syndrome: Peutz–Jeghers syndrome: Silver–Russell syndrome: Tuberous sclerosis: Von Hippel–Lindau disease