POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE (1) Mitochondrial disorders(2) are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation. 23836942 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. 23248042 2012
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118 2003
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE POLG1 is a major disease gene in mitochondrial disorders. 15689359 2005
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE POLG, the gene encoding the catalytic subunit of pol gamma, is a major locus for a wide spectrum of mitochondrial diseases with more than 100 known disease mutations. 19513667 2009
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE POLG1 encodes mitochondrial DNA polymerase and is one of the causative genes for a Mendelian-inheritance mitochondrial disease, which is occasionally accompanied by mood disorders. 27987238 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE POLG mutations are the most common cause of inherited mitochondrial disorders, with as many as 2% of the population carrying these mutations. 30451971 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects. 17310215 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes. 20927567 2011
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1. 22237560 2012
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. 30936349 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE An analysis of the POLG1 gene should be performed for all patients with suspected mitochondrial disease before the introduction of valproate therapy, and treatment with valproic acid should be avoided in these patients. 25065347 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Clinical diagnosis of POLG-related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders. 26169155 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group CTD_human Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. 18716558 2008
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 CausalMutation group CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE Defects in the mitochondrial DNA replication enzyme, polymerase γ, are an important cause of mitochondrial disease with ∼25% of all adult diagnoses attributed to mutations in the POLG gene. 22189570 2012
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25% adult mitochondrial diseases. 25118206 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Distal upper limb myopathy/cachexia is not previously described with dominant POLG mutations and our observations further highlight the diverse clinical spectrum of POLG-related mitochondrial disorders. 22933815 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders. 25160553 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. 24011957 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Infectious stress triggers a POLG-related mitochondrial disease. 31655921 2020
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group BEFREE Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). 23545419 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 Biomarker group BEFREE Missense mutations in the gene for polymerase gamma 1 (POLG1) cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by the accumulation of multiple, large-scale deletions of mitochondrial DNA. 20513108 2010
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group LHGDN Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268 2006
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.500 GeneticVariation group LHGDN Molecular studies in the POLG gene should be addressed in patients with mitochondrial disease, particularly in those with PEO, and multiple mtDNA deletions. 16401742 2006