 Summary Information
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Location: 3p26-p25
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| Gene Database Entries for VHL
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OMIM
GeneCard (Weizmann Institute)
Human Gene Mutation Database (Cardiff, UK)
Tumor Gene Database
Swiss-Prot
Locus Link
UniGene
GenAtlas
GDB
Nomenclature (search for VHL)
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| Other Related Resources
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von Hippel-Lindau Syndrome and the VHL Gene (National Center for Biotechnology Information) an overview of von Hippel-Lindau Syndrome and the VHL gene. Links to other gene databases.
VHL Mutations Database (Universal Mutation Database, France)
Medline Search: VHL (PubMed)
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Medline Search: Von Hippel-Lindau Syndrome (PubMed)
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- Medline Search: cancer AND gene AND VHL[TI] (PubMed)
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| von Hippel-Lindau disease
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von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterised by the development of
vascular tumours of the central nervous system and retina, renal carcinomas, pheochromocytomas, pancreatic islet cell tumours, endolymphatic
sac tumours, and benign cysts affecting a variety of organs. VHL is a dominantly inherited syndrome associated with germline mutations of the VHL tumour suppressor gene located on chromosome 3p25. Inactivation or loss of the remaining wild-type allele in
a susceptible cell may lead to tumour development.
Richards FM, et al. Molecular genetic analysis of von Hippel-Lindau disease. J Intern Med 1998; 243(6):527-33 Related articles (PubMed)
Webster AR, et al. An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet 1998; 63(4):1025-35 Related articles (PubMed)
Maher ER, Kaelin WG von Hippel-Lindau disease. Medicine (Baltimore) 1997;76(6):381-91 Related articles (PubMed)
Medline Search: cancer AND von Hippel-Lindau (PubMed)
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 Resources by Disease Type
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| VHL and Renal Cell Carcinoma
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Fleming S Renal cancer genetics: von Hippel Lindau and other syndromes. [Review] Int J Dev Biol 1999;43(5 Spec No):469-71 Related articles (PubMed)
Neumann HP, et al. Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol 1998; 160(4):1248-54 Related articles (PubMed)
Shuin T, et al. Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res 1994; 54(11):2852-5 Related articles (PubMed)
Medline Search: renal carcinoma AND vhl AND gene (PubMed)
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Renal Cell Carcinoma Genetics
Renal Cell Carcinoma : Clinical and Epidemiological Information
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| VHL and CNS haemangioblastomas
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Glasker S, et al. The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. J Neurol Neurosurg Psychiatry. 1999; 67(6):758-62 Related articles (PubMed)
Kanno H, et al. Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res 1994; 54(18):4845-7 Related articles (PubMed)
Medline Search: haemangioblastomas AND von Hippel-Lindau disease (PubMed)
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Brain and CNS Tumours : Clinical and Epidemiological Information
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[Home] This page created: 09/10/1999 Last revised: 29/04/2003 © Copyright 1999-
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