von Hippel-Lindau disease

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von Hippel-Lindau disease

Etymology: Eugen von Hippel, German ophthalmologist, 1867-1939; Arvid Lindau, Swedish pathologist, 1892-1958
a hereditary disease characterized by congenital, tumorlike vascular nodules in the retina and hemangioblastomas of the cerebellar hemispheres. Similar spinal cord lesions; cysts of the pancreas, kidneys, and other viscera; seizures; and mental retardation may be present. Also called cerebroretinal angiomatosis, Lindau-von Hippel disease, retinocerebral angiomatosis. Compare Hippel's disease.
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von Hippel-Lindau disease

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 ?
Pheochromocytoma has long been estimated to be hereditary in 10-15% of cases and may occur as part of Von Hippel-Lindau disease (VHL Gene), MEN (Multiple Endocrine Neoplasia) Syndrome Type IIA (medullary carcinoma of thyroid, pheochromocytoma, and parathyroid adenoma) (RET gene) or MEN IIB (medullary carcinoma of thyroid, Pheochromocytoma, Marfan's and neurofibromatosis) (NF1 gene).
An estimated 20 to 50% of hypernephromas are associated with Von Hippel-Lindau disease.
Plasma normetanephrine and metanephrine for detecting pheochromocytoma In von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
This tumor may be associated with the neurocutaneous syndrome von Hippel-Lindau disease (2, 3).
Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma.
Endolymphatic sac tumor (ELST) is a papillary epithelial neoplasm arising within the endolymphatic sac/ duct that shows a high association with von Hippel-Lindau disease (VHL).
Retinal capillary hacmangioma occurs more frequently in Von Hippel-Lindau disease as opposed to NF.
13, 2010 /PRNewswire/ -- The second episode in a three-part series on Grey's Anatomy features a patient with von Hippel-Lindau disease (VHL).
Milenka, from Chile, has Von Hippel-Lindau disease which is a rare inherited genetic condition.
Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterised by the abnormal growth of tumours (angiomatosis) in certain parts of the body.
Elaine suffers from pre-cancerous cysts and tumours caused by the extremely rare von Hippel-Lindau disease (VHL).