Disease: Paraganglioma of head and neck ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE Carriers of <i>SDHB</i> truncating variants displayed a trend towards increased risk of PPGL, and all three SDH genes showed a trend towards over-representation of missense variants in HNPGL cases. 31492822 2020
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 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: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE We evaluated VHL, SDHB and SDHD mutation testing in cohorts of patients with non-syndromic PPGL and head and neck paraganglioma (HNPGL). 23072324 2013
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE Multiple head and neck paragangliomas are common in patients with SDHD mutations, while malignant head and neck paraganglioma is mostly seen in patients with SDHB mutations. 22584701 2012
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits. 21224366 2011
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE A rapidly recurrent head and neck paraganglioma is a very rare finding in an SDH mutation carrier, suggesting a gene-environment interaction. 20592014 2010
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 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: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 18551016 2008
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE 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
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE Paraganglioma syndrome includes head and neck paraganglioma and pheochromocytoma, and is classified according to the three susceptibility genes involved, SDHB, SDHC, and SDHD. 17102086 2006
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 GeneticVariation disease BEFREE Germline mutations in the succinate dehydrogenase (SDH) (mitochondrial respiratory chain complex II) subunit B gene, SDHB, cause susceptibility to head and neck paraganglioma and phaeochromocytoma. 15505628 2004
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 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: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		0.200 Biomarker disease HPO