FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Fumarase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 30050099 2019
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 28300276 2017
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report. 28747166 2017
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 28300276 2017
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease BEFREE Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. 28747166 2017
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene. 25913776 2016
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. 26574848 2016
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871 2016
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871 2016
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome. 25750977 2015
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients. 26457356 2015
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer. 25923021 2015
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Hereditary leiomyomatosis associated with renal cell carcinoma. 25477250 2015
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Germline FH mutations presenting with pheochromocytoma. 25004247 2014
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663 2014
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. 25292446 2014
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. 22764886 2013
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Fumarase deficiency in dichorionic diamniotic twins. 24182348 2013
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. 23612258 2013
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. 22565324 2012
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. 22127509 2012
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Mild fumarase deficiency and a trial of low protein diet. 22595425 2012
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. 22069215 2012
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR JAAD Grand Rounds quiz. A 46-year-old man with agminated papules on the buttock. Reed syndrome. 22243733 2012