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 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 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 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 Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 19215943 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Mutational analysis of the vhl gene in patients with familial phaeochromocytoma may permit specific diagnosis of von Hippel-Lindau disease, and is a good method for the identification of asymptomatic individuals at risk of von Hippel-Lindau disease. 9156047 1997
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease UNIPROT Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study. 31383958 2020
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Most familial cases of pheochromocytoma and/or paraganglioma and 10-20% sporadic cases carry germline mutations in VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, or MAX. 22328163 2012
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease UNIPROT Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 9663592 1998