DISEASES

Disease-gene associations mined from literature

Human genes for von Hippel-Lindau disease

Von Hippel-Lindau disease [DOID:14175]

Von Hippel–Lindau (VHL) is a rare, autosomal dominant genetic condition:555 in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma ( clear cell variety) and pheochromocytoma. VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.

Synonyms:  von Hippel-Lindau disease,  DOID:14175,  von HippelLindau disease,  von Hippel-Lindau disorder,  von Hippel-Lindau syndrome ...