VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Since no pathogenic mutations were detected in the von Hippel-Lindau (VHL) gene, we can rule out that VHL deficiency is causing the general reduction of OXPHOS enzymes observed in the PCs investigated. 21196298 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Pheochromocytomas are rare catecholamine-producing tumors derived in more than 30% of cases from mutations in 9 tumor-susceptibility genes identified to date, including von Hippel-Lindau tumor suppressor (VHL); succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB); and succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD). 21262951 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age. 20583150 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE 40 (98%) hemangioblastomas expressed angptl4 whereas all pheochromocytomas (n = 23) and pancreatic tumors (n = 25) were angptl4-negative, whatever their VHL status. 20454689 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. 20205103 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE This study provides evidence that targeting tyrosine kinase receptors such as the vascular endothelial growth factor pathway and the platelet-derived growth factor-beta receptor may have value in the treatment of VHL-related tumors including pheochromocytoma. 19017755 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. 19574279 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene. 19649731 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Our data suggest an unexpected association between pseudohypoxia and loss of p53, which leads to a distinct Warburg effect in VHL-related pheochromocytomas. 19763184 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 19215943 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE The prevalence of germ line mutations within the RET-protooncogene and the tumor suppressor genes SDHB, SDHD, and VHL in pheochromocytomas (PC) varies in recent studies from 12 to 24%, if one look at them collectively. 19399650 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the beta -domain of the VHL protein (pVHL). 18584357 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Global transcription analysis of KIF1B beta mutant pheochromocytomas revealed that these tumors are transcriptionally related to pheochromocytomas with RET and NF1 mutations but independent from SDH- and VHL-associated tumors. 18726616 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Human genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients.3. 18307724 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease LHGDN Mutations of VHL gene were detected in a Chinese family with nonsyndromic pheochromocytoma. 17680521 2007
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing. 18209888 2007
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas. 17102089 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE This case revealed a VHL sequence variant IVS2+43 A>G, which was also found in one other unrelated sporadic pheochromocytoma. 17102081 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Finally, discovery of a shared activation of the hypoxic response in pheochromocytomas with mutations in VHL and SDH genes and uncovering of a common JunB-mediated apoptosis defect in the major hereditary groups of pheochromocytoma have provided a mechanistic basis for the clinical similarities between these distinct syndromes. 16357557 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Constitutional loss of function mutations in the VHL gene are responsible for the VHL syndrome, a dominantly inherited familial cancer syndrome predisposing to a variety of neoplasms, including pheochromocytoma. 16506218 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Somatic VHL gene alterations are implicated in the pathogenesis of MEN2 pheochromocytomas. 16707008 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. 16954163 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE A proportion of PCCs occurs in hereditary cancer syndromes, including multiple endocrine neoplasia Type 2 (MEN2), caused by mutations in the RET proto-oncogene, von Hippel-Lindau (VHL) disease, caused by VHL gene abnormalities, and the pheochromocytoma-paraganglioma (PCC-PGL) syndrome, caused by mutations in SDHB and SDHD. 17102083 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE In patients with PHEO and/or PGL genetic testing for germline mutations in SDHD and SDHB has been recommended, in addition to the PHEO susceptibility genes VHL and RET. 17102077 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE A total of five unrelated Chinese families with non-syndromic familial pheochromocytomas were screened for VHL gene mutation by polymerase chain reaction (PCR) and subsequent direct sequencing. 17102088 2006