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von Hippel-Lindau Disease

More information in Books or onNLM PubMed
Definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.      Other names Lindau Disease; Cerebelloretinal Angiomatosis, Familial; von Hippel Lindau Syndrome; von Hippel Lindau Disease; Syndrome, von Hippel-Lindau; Lindaus Disease; Hippel Lindau Disease; Familial Cerebelloretinal Angiomatosis; Familial Cerebelloretinal Angiomatoses; Familial Cerebello-Retinal Angiomatoses; Familial Cerebello Retinal Angiomatosis; Cerebelloretinal Angiomatoses, Familial; Lindau's Diseases; Cerebello-Retinal Angiomatosis, Familial; Cerebello-Retinal Angiomatoses, Familial; Angiomatosis, Familial Cerebelloretinal; Angiomatosis, Familial Cerebello-Retinal; Angiomatoses, Familial Cerebelloretinal; Angiomatoses, Familial Cerebello-Retinal; von Hippel-Lindau Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
Vhlh protein, mouse  EC 6.3.2.19   *Von Hippel-Lindau Tumor Suppressor Protein von Hippel-Lindau Disease. Mol Cell Biol 2004 Oct;24(20):9038-47

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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