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

N. diseases: 93; N. variants: 26
Disease: Leigh Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 GeneticVariation disease BEFREE Short chain enoyl-CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable neurological decline and early mortality. 30848071 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 GeneticVariation disease BEFREE Rare mutations in ECHS1 as well as in HIBCH, the enzyme downstream in the valine degradation pathway, have been associated with LS or LS-like disorders. 26099313 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 Biomarker disease BEFREE We report on a boy with ECHS1 deficiency who was diagnosed with Leigh syndrome at 21 months of age. 25393721 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 Biomarker disease CTD_human Rare mutations in ECHS1 as well as in HIBCH, the enzyme downstream in the valine degradation pathway, have been associated with LS or LS-like disorders. 26099313 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 Biomarker disease CTD_human Deficiency of ECHS1 or HIBCH should be considered in children with Leigh disease. 25125611 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 Biomarker disease BEFREE Deficiency of ECHS1 or HIBCH should be considered in children with Leigh disease. 25125611 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.440 GeneticVariation disease CLINVAR