von Hippel–Lindau disease

In von Hippel–Lindau disease haemangioblastomas develop
throughout the brain and spinal cord, characteristically
affecting the cerebellum and retina. Renal, hepatic and
pancreatic cysts also occur. The risk of clear cell carcinoma of
the kidney is high and increases with age. Phaeochromocytomas
occur but are less common. The syndrome follows autosomal
dominant inheritance, and clinical, biochemical and
radiological screening is recommended for affected family
members and those at risk, to permit early treatment of
problems as they arise. The VHL gene on chromosome 3 has
been cloned, and identification of mutations allows predictive
testing in the majority of families.