| 释义 |
Hippel disease von Hip·pel-Lin·dau syn·drome (făn hip'el lan'dow), [MIM*193300] a type of phacomatosis, consisting of retinal vascular malformations, which may be multiple and bilateral, associated with hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with renal cell carcinomas or cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance due to mutation in the von Hippel-Lindau gene (VHL) on 3p. Synonym(s): cerebroretinal angiomatosis, Hippel disease, Lindau disease, von Hippel disease
von Hip·pel-Lin·dau syn·drome (făn hip'el lan'dow), [MIM*193300] a type of phacomatosis, consisting of retinal vascular malformations, which may be multiple and bilateral, associated with hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with renal cell carcinomas or cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance due to mutation in the von Hippel-Lindau gene (VHL) on 3p. Synonym(s): cerebroretinal angiomatosis, Hippel disease, Lindau disease, von Hippel diseaseHippel 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. |