von Hippel-Lindau Disease

**Definition:** An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.

**Tree numbers:** - C10.562.925 - C14.907.077.925 - C16.131.077.245.750 - C16.320.184.750

**Synonyms:** - Cerebelloretinal Angiomatosis, Familial - Familial Cerebello-Retinal Angiomatosis - Hippel-Lindau Disease - Lindau Disease - Lindau's Disease - von Hippel-Lindau Syndrome - Angiomatosis Retinae - VHL Syndrome