单词 | von hippel-lindau disease |
释义 | von Hippel-Lindau diseasevon Hippel-Lindau diseaseMolecular 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″)von Hippel-Lindau diseaseAn 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).See VHLD |
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