Disease: hereditary paraganglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE SDH deficiency may result from germline SDHA, SDHB, SDHC, or SDHD mutations and is found in autosomal-dominant familial paraganglioma/pheochromocytoma and Carney-Stratakis syndrome, describing the combination of paraganglioma and gastrointestinal stromal tumor (GIST). 29339836 2018
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Hereditary paraganglioma (PGL)-pheochromocytoma (PCC) syndrome is a genetic disorder caused by a mutation of the tumor suppressor gene SDHD that results in a predisposition for head and neck PGLs and PCCs. 28902732 2017
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 Biomarker disease BEFREE The succinate dehydrogenase (SDH) complex exerts a fundamental role in mitochondrial cellular respiration and mutations in its encoding genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHx) lead to a number of inherited endocrine cancer predisposition syndromes, including familial paraganglioma/pheochromocytoma. 24781345 2014
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 Biomarker disease BEFREE The analysis of the Hif1α pathway in SDHD-ESR tissues and in two newly derived cell lines after complete SdhD loss -a requirement for hereditary paraganglioma type-1 tumor formation in humans- partially recapitulated the "pseudo-hypoxic" response and rendered inconsistent results. 24465590 2014
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE SDHD mutations predispose carriers to hereditary paraganglioma syndrome. 23586964 2013
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE This is the first report of the c.337-340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member. 22441002 2013
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Hereditary paraganglioma syndrome associated with SDHD gene mutations: a patient with multicentric presentation treated with radiotherapy. Case report. 21617718 2011
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Thus, we report a novel punctual mutation in the SDHD gene, which is related to familial paraganglioma: the deletion was c.165_169 + 14del. 21619495 2011
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Hereditary paraganglioma (PGL) is characterized by the development of highly vascularized paraganglionic tumors as a result of germline mutations in the SDHB, SDHC or SDHD subunit genes of succinate dehydrogenase (SDH; mitochondrial complex II), or in the Von Hippel-Lindau tumor-suppressor gene. 20111059 2010
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 Biomarker disease BEFREE Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. 19368708 2009
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). 17973943 2008
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Hereditary paraganglioma (PGL) is characterised by genetic predisposition to the development of highly vascular tumours of the paraganglionic tissues and caused by germ line inactivating mutations in the SDHB, SDHC and SDHD subunits of mitochondrial succinate dehydrogenase enzyme complex (SDH; mitochondrial complex II). 18978332 2008
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Inactivating mutations of SDHD, which is mapped to 11q23 and encodes the cybS subunit of succinate dehydrogenase, predispose to hereditary paraganglioma (PGL) and/or pheochromocytoma. 18211978 2008
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Germ line mutations in the SDHB, SDHC or SDHD genes cause hereditary paraganglioma (PGL) tumors which show constitutive activation of homeostatic mechanisms induced by oxygen deprivation (hypoxia). 17487275 2007
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma. 17041923 2006
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. 16405730 2006
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation. 15905695 2005
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 Biomarker disease BEFREE Mutations within three genes, SDHB, SDHC, and SDHD, encoding distinct subunits of a hetero-oligomeric protein known as the mitochondrial complex II, a component of the mitochondrial electron transport chain and the Krebs cycle have been implicated in the pathogenesis of hereditary paraganglioma (PGL). 15479192 2004
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 Biomarker disease BEFREE Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. 15531530 2004
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Analysis at the genomic level of 67 tumour samples and 37 cell lines revealed at least 2 bona-fide mutations in cell lines without allelic loss at 11q23: a 4bp-deletion causing skip of exon 3 resulting in a premature stop codon in cell line N206, and a Y93C mutation in cell line NMB located in a region affected by germline SDHD mutations causing hereditary paraganglioma. 15331017 2004
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822 2003
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 Biomarker disease BEFREE Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). 11897817 2002
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE While mutations in SDHA display a phenotype resembling other mitochondrial and Krebs cycle gene defects, those in SDHB, SDHC and SDHD cause hereditary paraganglioma. 11692162 2001
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Thus, inactivation of the SDHD gene in hereditary paraganglioma is associated with a complete loss of mitochondrial complex II activity and with a high expression of angiogenic factors. 11605159 2001
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		0.100 GeneticVariation disease BEFREE Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322 2001