Von Hippel-Lindau (VHL) disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3.
Von Hippel-Lindau disease is a hereditary cancer syndrome predisposing carriers to the development of a panel of highly vascularized tumours such as central nervous system and retinal hemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas, pheochromocytomas and pancreatic neuroendocrine tumors. The disease is the foremost cause of inherited renal cell carcinomas, which is induced by germline mutations of the VHL tumor-suppressor gene also inactivated in most sporadic renal cell carcinomas.
This disorder is not rare (2):
Mean age at diagnosis is the mid-20s, often with retinal angioma as the first manifestation (3)
Last reviewed 01/2018