Von Hippel–Lindau Disease

Von Hippel-Lindau disease.

Von Willebrand disease

hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis 1996;22:254–8. 8 Delaunay J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol 2004;41:165–72. 9 Carella M, Stewart G, Ajetunmobi JF et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus ...

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 activ...

[Von Hippel-Lindau disease].

In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...

Defining von Willebrand disease.

for repeat testing. The authors’ conclusion that it should be considered for screening patients requires further consideration and study but conceivably, this assay should improve the future of VWD diagnosis. Conflict-of-interest disclosure: P.D.J. has received research funding from Bayer, CSL Behring, and Octapharma; and honoraria for educational talks from Baxalta, CSL Behring, and Octapharma. n