von Hippel-Lindau disease


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von Hippel-Lindau disease

Molecular medicine An AD condition characterized by retinal angioma, CNS hemangioblastoma, renal cysts and CA, pheochromocytoma, pancreatic cysts, polycythemia 2º to ↑ erythropoietin production, epididymal cystadenoma.

Hippel disease

, von Hippel-Lindau disease (hip′ĕl) (von hip′ĕl-lin′dow″)
[Eugen von Hippel, Ger. ophthalmologist, 1867–1939; Arvid Lindau, Swedish pathologist, 1892–1958]
Angiomatosis of the retina and various areas of the body including the central nervous system, spinal cord, and visceral organs.

von Hippel-Lindau disease

An autosomal dominant genetic disorder with incomplete penetrance due to a mutation on chromosome 3. The principal feature is a single or multiple tumour of blood-forming tissue (haemangioblastoma) in the retina, the cerebellum, the brainstem or the spinal cord. These are highly vascular lesions that may grow dangerously at puberty or during pregnancy. Some secrete erythropoietin that leads to a large over-production of red blood cells. (Eugen von Hippel, 1867–1939, German ophthalmologist; and Arvid Lindau, b. 1892, Swedish pathologist).
References in periodicals archive ?
Molecular genetic analysis of von Hippel-Lindau disease. J Int Med 1998; 243:527-33.
Familial and genetic researches on three Chinese families with von Hippel-Lindau disease. Neurol Res 2009;31:743-7.
Choyke et al., "Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents," American Journal of Human Genetics, vol.
Clear cell endocrine pancreatic tumor mimicking renal cell carcinoma: a distinctive neoplasm of von Hippel-Lindau disease. Am J Surg Pathol.
[2] Nonstandard abbreviations: MEN2, multiple endocrine neoplasia type 2; VHL, von Hippel-Lindau disease; NF1, neurofibromatosis type 1; SDH, succinate dehydrogenase; MN, metanephrine; NMN, normetanephrine; 3MT, 3-methoxytyramine.
Management of renal cell carcinoma in von Hippel-Lindau disease. European Journal of Clinical Investigation, 29(1), 68-75.
Another example of early detection is von Hippel-Lindau disease, a hereditary syndrome characterized by tumors and cysts in multiple organ systems.
Von Hippel-Lindau disease is a hereditary cancer syndrome caused by a germline mutation in or deletion of the VHL gene, and patients are at risk for developing tumors and fluid-filled sacs (cysts) in a number of organs.
Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: histopathological and molecular genetic analysis.
Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: A description of a Nova Scotia cohort.