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 ?
Elsevier revealed on Friday the launch of a partnership with VHL Alliance for a new, content-rich module on PracticeUpdate, with focus on von Hippel-Lindau Disease (VHL), which is a rarely diagnosed and often mistreated disease that currently afflicts one in every 36,000 people in the US.
Tumors of the endolymphatic sac in von Hippel-Lindau disease.
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease.
An evaluation of the Danish national clinical guidelines for von Hippel-Lindau (VHL).
Clear cell endocrine pancreatic tumor, particularly in the setting of von Hippel-Lindau disease, is known to closely mimic metastatic CCRCC, because tumor cells in this group of neoplasm may be arranged in cords, nests, and tubules, all of which can be seen with central hemorrhage, simulating CCRCC.
Endolymphatic sac tumors in von Hippel-Lindau disease.
When Jeff, Clarice's husband, was diagnosed with von Hippel-Lindau (VHL) Syndrome in 1992, Clarice decided to have her two children screened for the mutation behind VHL.
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).
The aim of this study was to investigate the association of Von Hippel-Lindau (VHL) gene status, vascular endothelial growth factor receptor (VEGFR) or stem cell factor receptor (KIT) expression, and their relationships with characteristics and clinical outcome of advanced ccRCC.
The Natural History of Cerebellar Hemangioblastomas in von Hippel-Lindau Disease.
Other causes of pheochromocytoma that need to be ruled out include von Hippel-Lindau syndrome, multiple endocrine neoplasia Type 2B (MEN 2B) and paraganglioma syndromes.
Most of PHEO are sporadic but in different genetic disorders, PHEO is associated mainly with multiple endocrine neoplasia type 2, von Hippel-Lindau disease or neurofibromatosis type 1 (NF-1) [3].