vi medicine informatics




Von Hippel-Lindau disease, AD disorder » abnormal blood vessel growth. The overgrowth of blood vessels leads to angiomas and hemangioblastomas in the retina, brain, and spinal cord, as well as in other regions of the body. Patients also show cystic growths in the kidneys and pancreas, pheochromocytomas, islet cell tumors, and clear-cell renal carcinoma. The disease is due to a loss of function mutation in the VHL tumor suppressor gene on the short arm of chromosome 3. According to the ”two-hit hypothesis,” tumor suppressor genes require the loss of function of both alleles to cause expression of the disease.

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