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 ?
A source of morbid hearing loss in von Hippel-Lindau disease.
Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease.
Table 1 Von Hippel-Lindau Disease Resources American Brain Tumor Association http://www.
Von Hippel-Lindau disease and endocrine tumor susceptibility.
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease.
Molecular cytogenetic characterization of early and late renal cell carcinomas in von Hippel-Lindau disease.
Two cases of bile duct NET, reported in patients with von Hippel-Lindau disease, may be related to the propensity for patients with von Hippel-Lindau syndrome to develop neuroendocrine tumors.
Tumors that arise from the endolymphatic sac tend to be low-grade adenocarcinomas; a few cases are associated with von Hippel-Lindau disease.
Von Hippel-Lindau disease, type 2, is further classified into 3 subcategories based on the presence or absence of RCC.
5,24) Metastatic clear cell RCC should also be differentiated from a clear cell carcinoid tumor of the gallbladder, which has been reported both in patients with von Hippel-Lindau disease and in patients without von Hippel-Lindau disease.
Of the incidentally detected cases, some are found during examination of patients for other reasons, including von Hippel-Lindau disease (VHLD), while others are detected at autopsy.