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 Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients. 30352407 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease. 12618761 2003
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
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 BEFREE A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic phaeochromocytoma tumours. 11323050 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations. 19522821 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Here we explore the underlying molecular basis of three cases of paraganglioma or pheochromocytoma that came to our attention due to apparent maternal transmission of an SDHD mutation. 25300370 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 22025150 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Allelic losses of the SDHB gene were present in two phaeochromocytoma and one insulinoma cases and allelic losses of SDHD were present in one phaeochromocytoma case. 18510707 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Succinate dehydrogenase complex, subunit D (SDHD) mutations cause pheochromocytoma/paraganglioma syndrome. 23493432 2013
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Up to 30% of pheochromocytomas and paragangliomas are associated with germline RET, Von Hippel-Lindau (VHL), neurofibromatosis type I (NF1), and succinate dehydrogenase subunits (SDHB, SDHC, and SDHD) mutations. 20236688 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease LHGDN Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease LHGDN Novel SDHD germ-line mutations in pheochromocytoma patients. 17576205 2007
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE A G12S variant of the SDHD gene was found in one patient affected by a PHEO. 17102085 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations. 11404820 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE SDHB, SDHC, and SDHD molecular screening is important in all HNPs, with or without primary indicators of paraganglioma syndrome, to orient mutation-driven clinical screening for additional HNPs and pheochromocytoma. 17102086 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE In this study, both the risk of paraganglioma and phaeochromocytoma formation, and the risk of developing associated symptoms were investigated in 243 family members with the SDHD.D92Y founder mutation. 19584903 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE The aim of this study was to determine whether SDHB and SDHD gene mutations in patients with pheochromocytoma/paraganglioma could be determined using a salivary sample. 26916530 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Germline mutations in Von Hippel-Lindau (VHL), succinate dehydrogenase subunit B (SDHB), SDHC, and SDHD have been detected in individuals with synchronous or metachronous pheochromocytoma/paraganglioma (PHEO/PGL) and renal cell carcinoma (RCC). 25800244 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation. 29545045 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Combining our results with those from two other large studies in which both SDHB and SDHD have been analysed, SDHB mutations were most commonly associated with phaeochromocytoma susceptibility and SDHD with the development of HNPGL (P = 0.025). 14974914 2003
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE We also investigated 202 paragangliomas or pheochromocytomas for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC and SDHD loci by BAC array comparative genomic hybridization. 20484225 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. 23162105 2013