Disease: Paraganglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Although the tumour appeared to be sporadic in a patient with no personal or familial history of paraganglioma and/or pheochromocytoma, we have identified a new mutation (392delC) of the succinate dehydrogenase-B (SDHB) gene in the genomic DNA extracted from the leukocytes of the patient. 15476441 2004
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Among 18 patients, we identified a novel heterozygous nonsense mutation at codon 168 resulting in a CAG (glutamine) to TAG (stop) substitution (Q168X) in the SDHB gene in a patient diagnosed with solitary sporadic PGL. 20505258 2010
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE We performed a retrospective analysis of 71 subjects with metastatic pheochromocytoma and paraganglioma (30 subjects with mutation of succinate dehydrogenase enzyme subunit B (SDHB) gene and 41 subjects without SDHB mutation). 18310297 2008
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas (HPGL). 15987702 2005
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE We report a family with malignant sympathetic paragangliomas (PGL) exhibiting a new type of germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. 14715873 2004
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 Biomarker disease BEFREE We studied 14 cases of this entity and investigated the usefulness of SDHB protein staining by immunohistochemistry (IHC) as a diagnostic tool to identify patients with bladder paragangliomas that could be associated with SDHB gene mutations, as these patients have a more aggressive disease. 26457353 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case. 19415531 2009
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE In addition, germline SDHD and SDHB mutations may cause phaeochromocytoma susceptibility with or without associated head and neck paragangliomas. 12351569 2002
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Histopathology and genetic analysis ultimately revealed the patient to have suffered from a paraganglioma type 4 syndrome with a missense mutation of the SDHB gene. 24429046 2014
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 Biomarker disease CTD_human We report a 13-year-old African American boy with diffusely metastatic PGL and compound heterozygous mutation leading to a novel splice donor region DNA sequence variant in the SDHB gene. 19927285 2010
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Mutations in genes encoding succinate dehydrogenase and its anchoring subunits (SDH genes) are at the origin of hereditary head and neck paraganglioma (PGL) and a subset of apparently sporadic pheochromocytoma. 19145771 2009
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE SDHB mutation carriers are predisposed to developing paragangliomas (PGLs). 25047027 2014
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 Biomarker disease BEFREE Since human PGL cell lines are not available, we used the neuroblastoma cell line (SK-N-AS) stably transfected with the wild-type human SDHB or different SDHB-mutated constructs carrying some significant mutations found in our patients affected by PGLs. 24595825 2014
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE As SDH mutations are virtually always germline, we conclude that approximately 15% of all pheochromocytomas or paragangliomas are associated with germline SDH mutation and that immunohistochemistry can be used to triage genetic testing. 20236688 2010
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 AlteredExpression disease BEFREE SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC, or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and neurofibromatosis type 1. 19576851 2009
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE The paraganglioma-pheochromocytoma syndromes (SDHx) comprise familial gene mutations, of which the SDHB gene mutation carries a high rate of malignancy. 28752085 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (<i>SDHB</i>) or <i>SDHD</i> gene mutations. 28454217 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease LHGDN We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA. 11897817 2002
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 AlteredExpression disease BEFREE Forty percent of paragangliomas are linked to genetic syndromes, most commonly due to mutations of the succinate dehydrogenase (SDH) enzyme complex and are collectively known as paraganglioma syndromes, of which five are described. 30551795 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Array-based comparative genomic hybridisation (aCGH) analysis and multiplex ligation-dependent probe amplification (MLPA) revealed a novel deletion of exon 1-3 in the SDHB gene, suspected to predispose to paraganglioma (PGL)/pheochromocytoma (PHEO) syndrome type 4. 29292578 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 Biomarker disease BEFREE Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma-pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2. 26067997 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene. 24599702 2014
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Genetic screening confirmed the diagnosis of Carney-Stratakis syndrome, an SDH-D germline mutation leading to GIST and multifocal paragangliomas. 25883251 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Our results do not confirm SDHB mutations as a major prognostic parameter in MPP and suggest additional key molecular events involved in MPP tumor progression. 30715419 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE The presence of mutations within SDHB and SDHD in two of the three samples of familial PGLs and absence of mutations in sporadic cases is consistent with the significant contribution of these genes to familial but not sporadic PGL. 15479192 2004