von Hippel-Lindau disease

(redirected from 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 ?
Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members.
Von Hippel-Lindau disease is a rare, hereditary cancer syndrome in which affected individuals have a mutation and/or deletion of the tumor suppressor VHL gene, and are at risk for the development of multiple tumors including renal cell cancer.
Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment.
It may also be related with von Hippel-Lindau disease, von Recklinghausen syndrome and polycystic kidney disease (5).
M2 EQUITYBITES-February 12, 2018-Elsevier signs partnership with VHL Alliance on PracticeUpdateFree virtual resource about von Hippel-Lindau Disease
The differential diagnosis of renal cysts with autosomal dominant inheritance pattern include ADPKD, tuberous sclerosis, medullary cystic kidney disease and Von Hippel-Lindau disease.
Binet et al., "Management of von Hippel-Lindau disease: An interdisciplinary review," Oncology Research and Treatment, vol.
von Hippel-Lindau disease (vHLD) is a rare autosomal dominant disorder and can present by benign and malignant tumors of the eyes, central nervous system, kidneys, adrenals, and pancreas.
Sigmund et al., "Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease," The New England Journal of Medicine, vol.
The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss for several months.
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.