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 Most commonly, up to 25% of all PC-PGLs are associated with mutations in one of the succinate dehydrogenase (SDH) enzyme subunit genes. 31498738 2020
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 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 Paraganglioma of the Vagina Associated With Germline SDHB Mutation: Report of a Case With Review of the Literature. 31851064 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE SDHB mutations are found in an increasing number of neoplasms, most notably in paragangliomas and pheochromocytomas (PPGLs). 31216007 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127. 31705439 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE In multivariate models for association with survival, age (HR 1.04 [95% CI 1.02-1.06]) and metastases (HR 6.13 [95% CI 2.86-13.13]) but neither paraganglioma or SDHB mutation remained significant. 30893643 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma. 30977831 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 GeneticVariation disease BEFREE Germline pathogenic variants in <i>SDHB/SDHC</i>/<i>SDHD</i> are the most frequent causes of inherited phaeochromocytomas/paragangliomas. 29386252 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE SDH status should be considered for all patients with paraganglioma as it may be important for patients' lifelong follow-up as well as for familial considerations. 29575826 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease CTD_human Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. 30013182 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE Moreover, known epigenetic alterations triggered by mutated SDHB in paragangliomas suggest that underexpressed SDHB in oligodendrogliomas may support and possibly enhance the epigenetic reprogramming induced by the IDH-mutation. 29890994 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE Here, we report a unique case of a patient with a primary left ventricular cardiac paraganglioma (PGL) and describe the role of a medical genetics assessment leading to the identification of a rare variant in the SDHB gene to be the causative etiology of this cardiac tumor. 28891197 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE However, negative SDHB immunostaining has also been found in a subset of PGLs that lack SDHx mutations. 29126304 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE Thus, we characterized SDHB and FH IHC in a large cohort of PGL/PCC patients (n = 41) at our institution who were evaluated for hereditary PGL/PCC syndromes. 29079178 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE However, there are no models for SDH-deficient paragangliomas. 29967109 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE In summary, the present study identified a potential role for the tumor microenvironment in influencing phenotypic features of SDHB-mutated PGLs, providing a basis for the use of therapies targeted towards the tumor microenvironment. 30159755 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE In this study, we investigated mutations of SDH genes in six HPPS patients from four Japanese pedigrees using peripheral blood lymphocytes (from one patient with pheochromocytoma and five patients with neck paraganglioma) and tumor tissues (from two patients with paraganglioma). 29925701 2018
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 AlteredExpression disease BEFREE 3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau. 28332883 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE All wild-type PCCs/PGLs exhibited SDHB immunoreactivity, while immunostaining for SDHA was positive in 93.8% cases and weakly diffuse in one (6.2%). 28179334 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 Biomarker disease BEFREE CT = computed tomography HNP = head and neck paraganglioma IQR = interquartile range PGL = paraganglioma PPGL = pheochromocytoma and paraganglioma SDH = succinate dehydrogenase. 27967220 2017
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 GeneticVariation disease BEFREE Mutations in mitochondrial complex II (succinate dehydrogenase; SDH) genes predispose to paraganglioma tumors that show constitutive activation of hypoxia responses. 28204537 2017