FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.130 Biomarker disease BEFREE Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 30050099 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.130 Biomarker disease BEFREE ACC = adrenal cortical carcinoma; APA = aldosterone-producing adenoma; APCC = aldosterone-producing cell cluster; CAH = congenital adrenal hyperplasia; CT = computed tomography; DOTATATE = [<sup>68</sup>Ga]-DOTA(0)-Tyr(3)-octreotate; FDG = fluorodeoxyglucose; FH = fumarate hydratase; MR = miner-alocorticoid; MDH2 = malate dehydrogenase 2; PCC = pheochromocytoma; PET = positron emission tomography; PGL = paraganglioma; SCS = subclinical cortisol-secreting; SDHB = succinate dehydrogenase subunit B; TCGA = The Cancer Genome Atlas. 28332880 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.130 GeneticVariation disease BEFREE Succinate dehydrogenase and fumarate hydratase are mitochondrial proteins of the TCA cycle and the respiratory chain and when mutated lead to tumours of the nervous system known as paragangliomas and pheochromocytomas, and in the case of fumarate hydratase, cutaneous and uterine leiomyomas and renal cell cancer. 20304625 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.130 GeneticVariation disease CLINVAR