Molecular bases in vonhippel-Lindau Disease

Von Hippel-Lindau disease is an autosomal dominant disorder that is characterized by the development of various benign and malignant tumors and cysts, in the central nervous system, retinal hemangioblastoma, pheocromocytoma and renal cell carcinoma. The VHL tumor suppressor gene, which is located on chromosome 3p25-26 is responsible for this disease. The molecular diagnosis of VHL and the identification of the corresponding gene, is a remarkable progress in the understanding of the molecular basis of the pathogenesis of VHL disease.