Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 GeneticVariation group BEFREE Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. 27835968 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 GeneticVariation group BEFREE Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific Na(+)/K(+)-ATPase α3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and cognitive deficits. 27549929 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 GeneticVariation group BEFREE Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only. 25359261 2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 GeneticVariation group BEFREE ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. 25447930 2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE In addition, a combination of next-generation and traditional Sanger sequencing has expanded the phenotypic spectrum associated with some of the dystonia plus (ATP1A3) and paroxysmal (PRRT2) loci. 24136457 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of movement disorders. 23622412 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE In just over a year, four new genes have been shown to cause primary dystonia (CIZ1, ANO3, TUBB4A and GNAL), PRRT2 has been identified as the cause of paroxysmal kinesigenic dystonia and other genes, such as SLC30A10 and ATP1A3, have been linked to more complicated forms of dystonia or new phenotypes. 23775978 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium-potassium pump (Na(+)/K(+)-ATPase). 22067897 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE It was found that partial selective pharmacological block of the sodium pumps in the cerebellum and basal ganglia of mice recapitulates all of the salient features of DYT12, including dystonia and parkinsonism induced by stress. 22422472 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. 22924536 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia. 17516473 2007
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. 17282997 2007
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 GeneticVariation group BEFREE Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. 15260953 2004
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker group BEFREE Although RDP itself is a rare condition, it is important because it has clinical and biochemical similarities to both Parkinson's disease and dystonia. 10443882 1999