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 CausalMutation disease CGI
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease CLINVAR
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 Biomarker disease HPO
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Inactivating SDHB mutations were detected in two of the five kindreds with familial pheochromocytoma, two of the three kindreds with pheochromocytoma and paraganglioma susceptibility, and 1 of the 24 cases of sporadic pheochromocytoma. 11404820 2001
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 GeneticVariation disease BEFREE Our findings indicate that mutations in SDHB may be associated with metastatic, yet clinically indolent, abdominal paraganglioma in some families. 12213855 2002
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 AlteredExpression disease BEFREE In order to characterize phenotypic effects of these mutations, the present study investigated the immunohistochemical expression of the catalytic subunits of complex II (flavoprotein and iron protein), SDH enzyme activity, and mitochondrial morphology in a series of 22 head and neck paragangliomas. 14595761 2003
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Recently, three more genes (SDHD, SDHB, and SDHC) which are all related subunits of the mitochondrial complex II have been identified to cause susceptibility to pheochromocytoma and/or paraganglioma. 14674304 2004
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease LHGDN Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance. 14685938 2004
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance. 14685938 2004
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 Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. 14974914 2003
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas. 15328326 2004
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 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
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE The majority (>70%) of hereditary extraadrenal PCs [catecholamine-secreting paragangliomas (PGL)] are accounted for by germline intragenic mutations in SDHB, SDHC, or SDHD. 15531530 2004
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE While SDHD and -- to a lesser degree -- SDHB mutations have been found in many cases of hereditary PGL, SDHC mutations are rare. 15883704 2005
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 Biomarker disease BEFREE Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paraganglioma and pheochromocytoma. 15883710 2005
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 Location, number of tumors, malignancy, and age were different: more carotid body tumors were found in SDHC (13/22 [59%]) than in sporadic HNPs (29/90 [32%], P = .03), as well as fewer instances of multiple tumors in SDHC (2/22) than in SDHD (24/42; P<.001), 0 malignant tumors in SDHC vs 6/15 in SDHB (P = .002), and younger age at diagnosis in SDHC than in sporadic HNPs (45 vs 52 years; P = .03). 16249420 2005
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE We identified 3 heterozygous SDHB deletions (3/24) in 3 independent cases with paraganglioma: 1 whole SDHB deletion and 2 deletions exclusively affecting exon 1. 16258955 2006
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Germline mutations of SDHD and SDHB are a major cause of the hereditary forms of the tumors paraganglioma and pheochromocytoma. 16288654 2005
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease BEFREE Mutation screening of genes associated to VHL (VHL), MEN (RET), and familial PGL (SDH-B, -C, and -D) showed that all cases had germline deletions in the SDHB gene. 16304664 2006
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 GeneticVariation disease LHGDN In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma. 16405730 2006