The Von Hippel Lindau VHL Gene Video
Von Hippel-Lindau disease The Von Hippel Lindau VHL Gene.The Von Hippel Lindau VHL Gene - me? Thanks
Von Hippel—Lindau syndrome VHL is a dominantly inherited hereditary cancer syndrome predisposing to a variety of malignant and benign tumors of the eye, brain, spinal cord, kidney, pancreas, and adrenal glands. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. Individuals with VHL syndrome inherit one mutation in the VHL protein that causes the protein's normal function to be lost or altered. Over time, sporadic mutation in the second copy of the VHL protein can lead to carcinomas, in particular we have hemangioblastomas affecting the liver and the kidneys, renal and vaginal clear cells adenocarcinomas. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This complex is involved in the ubiquitination and degradation of a hypoxia-inducible factor HIF , which is a transcription factor that plays a central role in the regulation of gene expression by oxygen.
Slow-growing hemgioblastomas — benign tumors with many blood vessels Hippdl may develop in the brain, spinal cord, …. 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 suppressor gene on chromosome 3p Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.
Von Hippel-Lindau Disease (VHL) Information Page
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How is VHL inherited? Normally, every cell has 2 copies of each gene: 1 …. In general, treatment for kidney cancer is similar regardless of whether a patient has VHL. It is important to discuss with your doctor the following screening options, as each individual is different: 1. Yearly eye examination to look forQuestions to Ask The Health Care TeamIf you are concerned about your risk for developing cancer, talk with your doctor.
Consider asking the following questions of your doctor: 1. Von Hippel—Lindau syndrome VHL is a dominantly inherited hereditary cancer syndrome predisposing to a variety of malignant and benign tumors of the eye, brain, spinal cord, kidney, pancreas, and adrenal glands. A germline mutation of this gene is ….
VHL syndrome is inherited in an autosomal dominant manner and is caused by a change that affects the VHL gene, a tumor -suppressor gene, on chromosome 3. Patients and doctors enter symptoms, answer questions, and find a list of matching causes — sorted by probability.]
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