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 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
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 CausalMutation disease CLINVAR Germline FH mutations presenting with pheochromocytoma. 25004247 2014
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Structural basis of fumarate hydratase deficiency. 21445611 2011
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. 2314594 1990
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. 16597677 2006
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. 16575891 2006
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Fumarase: a paradigm of dual targeting and dual localized functions. 21929734 2011
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF. 17182618 2007
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 GeneticVariation disease BEFREE Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 8200987 1994
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800 1997
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. 16237213 2005
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 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 GeneticVariation disease CLINVAR Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. 19470762 2009
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800 1997
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 Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 12761039 2003
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 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 Molecular and biochemical investigations in fumarase deficiency. 16510303 2006
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 21404119 2011
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Fumarase: a paradigm of dual targeting and dual localized functions. 21929734 2011
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 21398687 2011