ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE ARX and CDKL5 genes were identified as linked to the most frequent genetic causes of West Syndrome. 30236769 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE Common causes of ISs were excluded by brain magnetic resonance imaging (MRI), metabolic screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications. 26138355 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine expansions and missense variants resulting in infantile spasms. 26306640 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations. 27798109 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms). 24236044 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE Polyalanine (polyA)-expansion-encoding mutations of aristaless-related homeobox (ARX) cause a spectrum of X-linked ID (XLID) diseases and chronic epilepsy, including infantile spasms. 23246292 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. 20538404 2011
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GermlineCausalMutation disease ORPHANET ARX spectrum disorders: making inroads into the molecular pathology. 20506206 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation. 19232548 2009
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease LHGDN [ARX--one gene--many phenotypes]. 18975239 2009
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE The same ARX gene mutation has been reported in patients with infantile spasms, but was absent in the present case. 18823727 2009
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease LHGDN This combination of early infantile spasms followed by a complex movement disorder contributes further to extent the pleiotropy of the ARX-linked "interneuronopathy" and should lead the clinician to ARX mutation screening. 18468866 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE There are very few affected females with ARX related infantile spasms. 18462864 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease LHGDN ARX gene testing should be considered in boys with infantile spasms and dyskinetic cerebral palsy in the absence of a consistent perinatal history. 17664401 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE ARX gene testing should be considered in boys with infantile spasms and dyskinetic cerebral palsy in the absence of a consistent perinatal history. 17664401 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE ARX is a crucial gene for the development of interneurons in the fetal brain, and a polyalanine expansion mutation of ARX causes mental retardation and seizures, including those of West syndrome, in males. 17668384 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease LHGDN Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. 17613295 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. 16235064 2006
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms. 16806828 2006
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). 16015284 2005
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). 15689447 2005
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease LHGDN Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 15726411 2005
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 GeneticVariation disease BEFREE The striking epileptogenicity of X-linked lissencephaly with abnormal genitalia and West's syndrome associated with ARX mutations i s considered to be caused by a disorder of interneurons involving a tangentialmigration disorder. 15921244 2005
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease BEFREE Our data suggest expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation. 15533998 2004
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease LHGDN Our data suggest expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation. 15533998 2004