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 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 A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma. 22946750 2013
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease LHGDN However, although many groups have reported VHL germline mutations in different countries, no previous report has described VHL gene mutations in VHL disease and/or pheochromocytoma patients in Korea. 16142346 2005
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE A recurrent synonymous VHL variant (c.414A>G, p.Pro138Pro) confers susceptibility to PHEO and VHL disease through splice disruption, leading to VHL dysfunction. 30946460 2019
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 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 Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant. 10627136 1998
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE It is unknown, however, whether VHL gene alterations would be associated with tumorigenesis in hereditary, MEN 2-related pheochromocytoma. 11821960 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE In a previous study of 65 VHL kindreds with defined VHL mutations we detected significant differences between VHL families with and without phaeochromocytoma such that missense mutations were more common and large deletions or protein truncating mutations less frequent in phaeochromocytoma positive families. 8730290 1996
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 VHL gene mutation analysis also provides a basis for investigating the genetic basis of familial phaeochromocytoma and renal cell carcinoma, and apparently isolated retinal angiomas. 9681854 1998
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 However, despite the complete absence of other clinical manifestations of the vHL disease (besides pheochromocytomas), a previously undescribed germline missense mutation in the vHL tumor suppressor gene was found (C775G transversion with a predicted substitution of a leucine by a valine at codon 259 in the putative vHL protein). 8772572 1996
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE We hypothesised that PC/PGLs containing SDHx or VHL mutations, and succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours (GISTs), would overexpress miR-210 relative to non-SDH or -VHL-mutated counterparts. miR-210 was analysed by quantitative PCR in i) 39 PC/PGLs, according to genotype (one SDHA, five SDHB, seven VHL, three NF1, seven RET, 15 sporadic, one unknown) and pathology (18 benign, eight atypical, 11 malignant, two unknown); ii) 18 GISTs, according to SDHB immunoreactivity (nine SDH-deficient and nine SDH-proficient) and iii) two novel SDHB-mutant neurosphere cell lines. miR-210 was higher in SDHx- or VHL-mutated PC/PGLs (7.6-fold) compared with tumours without SDHx or VHL mutations (P=0.0016). miR-210 was higher in malignant than in unequivocally benign PC/PGLs (P=0.05), but significance was lost when benign and atypical tumours were combined (P=0.08). 24623741 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Germline mutations in the susceptibility genes RET, SDHB, SDHD, and VHL have been reported in 7.5-24% of patients with pheochromocytoma (Pheo) or paraganglioma (PGL) and sporadic presentation. 22270996 2012
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 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 GeneticVariation disease BEFREE VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma. 25773797 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE This germline point mutation in the VHL gene is often detected in type 2 VHL disease with pheochromocytoma. 11510758 2001
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 Biomarker disease HPO
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR
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 This case revealed a VHL sequence variant IVS2+43 A>G, which was also found in one other unrelated sporadic pheochromocytoma. 17102081 2006