AGK, acylglycerol kinase, 55750

N. diseases: 60; N. variants: 15
Disease: Cataract and cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease BEFREE Mutations in AGK cause Sengers syndrome, which is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. 28712726 2017
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease BEFREE The dual function of AGK as lipid kinase and constituent of the TIM22 complex reveals that disturbances in both phospholipid metabolism and mitochondrial protein biogenesis contribute to the pathogenesis of Sengers syndrome. 28712724 2017
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease BEFREE Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593 2017
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease BEFREE Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). 25178427 2015
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease BEFREE A common mitochondrial cause for 3-methylglutaconic aciduria appears to be disruption of the architecture of the mitochondrial membranes, as in Barth syndrome (tafazzin deficiency), Sengers syndrome (acylglycerol kinase deficiency) and MEGDEL syndrome (impaired remodelling of the mitochondrial membrane lipids because of SERAC1 mutations). 25595726 2015
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease BEFREE Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families. 25208612 2014
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease CTD_human Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196 2013
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease BEFREE Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196 2013
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 CausalMutation disease CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731 2012
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GermlineCausalMutation disease ORPHANET Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome. 22284826 2012
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease BEFREE Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome. 22284826 2012
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease GENOMICS_ENGLAND [Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. 3560758 1986
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation disease CLINVAR