COX5A, cytochrome c oxidase subunit 5A, 9377

N. diseases: 171; N. variants: 3
Disease: Cytochrome-c Oxidase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.350 GermlineCausalMutation disease ORPHANET Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. 28247525 2017
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.350 Biomarker disease BEFREE The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. 21266382 2011
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.350 Biomarker disease BEFREE The accumulation of H(2)S over time causes progressive COX deficiency in animal tissues and human cells, which is associated with reduced amount of COX holoenzyme, and of several COX subunits, including mitochondrially encoded cytochrome c oxidase 1 (MTCO1), MTCO2, COX4, and COX5A. 20812865 2011
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.350 Biomarker disease BEFREE Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency. 18499082 2008
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.350 GeneticVariation disease BEFREE Our report of two patients with isolated COX deficiency and new mutations in COX subunit genes may help to draw more attention to this type of mtDNA defects and provide new aspects for counselling affected families. 16288875 2005
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.350 GeneticVariation disease BEFREE No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. 9402980 1997