ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE The m.9185 T > C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS). 31500933 2020
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 Biomarker disease BEFREE MT-ATP6 is associated with some cases of Leigh disease; clinical outcomes in our cohort ranged from death from neurodegenerative disease in early childhood to clinically and developmentally normal after several years of follow-up. 29307858 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Here, we report an atypical case of LS in a 9-year-old boy associated with a novel variation in MT-ATP6 gene. 29929013 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE The result of mutational analysis revealed the absence of mitochondrial mutations in MT-ATP6 gene and the presence of a known homozygous splice site mutation c.516-517delAG in sibling patients added to the presence of a novel double het mutations in LS patient (c.752-18 A > C/c. c.751 + 16G > A). 29481804 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 Biomarker disease BEFREE Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. 30140060 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. 29602698 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? 29116603 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Pathogenic mutations in MT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, while MT-ATP8 is less frequently mutated in patients with mitochondrial disease. 27502083 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6 (referred to as Atp6p in yeast) are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot-Marie-Tooth (CMT), and ataxia telangiectasia. 24316278 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation. 24153443 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 CausalMutation disease CLINVAR A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 23266623 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). 23266623 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 CausalMutation disease CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. 23631824 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE The rare T8993C mutation in the MT-ATP6 gene is generally considered to be clinically milder, but there is marked clinical heterogeneity ranging from asymptomatic carriers to fatal infantile Leigh syndrome. 22819295 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE The diagnosis of Leigh syndrome was subsequently confirmed by genetic study which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene. 22348497 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood. 22577227 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. 20546952 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease UNIPROT A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy. 17352390 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 Biomarker disease BEFREE Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further. 18461509 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 CausalMutation disease CLINVAR Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. 18461509 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.500 GeneticVariation disease BEFREE A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy. 17352390 2007