Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease BEFREE The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia. 30451971 2019
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 Biomarker disease BEFREE Specific EEG markers in POLG1 Alpers' syndrome. 30103161 2018
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease BEFREE A defect in the POLG gene is another common observation in most of the cases leading to Alpers syndrome. 29375674 2018
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR De novo mtDNA point mutations are common and have a low recurrence risk. 27450679 2017
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 Biomarker disease BEFREE Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. 28430993 2017
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? 29302508 2017
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms. 25914719 2015
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease BEFREE Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome. 25660390 2015
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. 26095671 2015
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. 23921535 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. 24508722 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease BEFREE POLG mutations are associated with Alpers-Huttenlocher syndrome; however, no prior studies have examined the role of acute human herpesvirus 6 infection in these patients presenting with severe neurological disease. 25160553 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR A national perspective on prenatal testing for mitochondrial disease. 24642831 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. 25281868 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease 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: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 Biomarker disease BEFREE We recommend POLG gene testing for patients with intractable seizures and at least one elevated CSF lactate or suggestive brain MRI changes (predominantly abnormal T2 -weighted thalamic signal) with or without status epilepticus, epilepsia partialis continua, or liver manifestations typical for Alpers disease, especially when the disease course is progressive. 23448099 2013
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 GeneticVariation disease BEFREE Neurons may be the primary target of mitochondrial dysfunction in brains of patients with Alpers disease related to POLG1 mutations. 22537151 2013
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
1.000 CausalMutation disease CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194 2013