Von hippel-lindau disease.
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-alpha (HIF1-alpha). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.
Hes
Frederik J
FJ
Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden. f.j.hes@lumc.nl.
Höppener
Jo Wm
JW
Luijt
Rob B van der
RB
Lips
Cornelis Jm
CJ