ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. 27905109 2017
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. 27221955 2016
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 26000322 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 26000322 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 26251176 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25393721 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 26251176 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN Clinical and biochemical characterization of four patients with mutations in ECHS1. 26081110 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25393721 2015
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CLINGEN Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase. 8012501 1993
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 CausalMutation disease CLINVAR
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease CTD_human
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND