Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE Without the identification of SDHB deficiency, this patient's personal and familial predisposition to PC, PGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis. 30482207 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE Despite the established role of SDHB/SDHA immunohistochemistry as a valuable tool to identify patients at risk for familial succinate dehydrogenase-related pheochromocytoma/paraganglioma syndromes, the reproducibility of the assessment methods has not as yet been determined. 25720320 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Since the discovery of first mutations in the succinate dehydrogenase D (SDHD) gene, which encodes the smallest subunit of mitochondrial complex II (SDH), genetic studies have revealed a major role for mutations in SDH subunit genes, primarily in SDHB and SDHD, in predisposition to both familial and non-familial PPGLs. 26113606 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Germline mutations in SDH genes are responsible for 6% and 9% of sporadic paragangliomas and phaeochromocytomas, respectively, 29% of paediatric cases, 38% of malignant tumours and more than 80% of familial aggregations of paraganglioma and phaeochromocytoma. 19522823 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs. 17119341 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE In the case of pheochromocytoma and paraganglioma, the demonstration that three genes encoding three succinate dehydrogenase subunits (SDHD, SDHB, SDHC), belonging to the complex II of the respiratory chain in the mitochondria, are involved in the genetics of familial and especially in apparently sporadic phaeochromocytomas have dramatically modified our practice. 16001332 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE In addition, we analysed 34 cases of HNPGL (30 isolated cases with single tumours, three isolated cases with multiple tumours and one familial case with multiple tumours) for somatic and germline mutations in SDHB, SDHC and SDHD. 14974914 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Recent studies suggest that germline SDHD and SDHB mutations are an important cause of familial and isolated phaeochromocytoma. 12351569 2002
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. 11897817 2002