ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE α-Thalassemia X-linked intellectual disability (ATR-X) syndrome is a neurodevelopmental disorder caused by mutations in the ATRX gene that encodes a SNF2-type chromatin-remodeling protein. 31713968 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein. 29785027 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and nonsyndromic intellectual disability. 28093507 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. 26860117 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE After genetic counseling of syndromic intellectual disability in males with ATRX duplication, the woman elected to terminate the pregnancy. 28600056 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. 26753516 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome. 25976463 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE ATRX was identified over 20 years ago as the gene responsible for a rare developmental disorder characterized by α-thalassemia and intellectual disability. 26646632 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome is a genetic syndrome caused by mutation of the ATRX gene associated with chromatin remodeling. 25936994 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE The mutation in ATRX most likely explains the ID, whereas MAGT1 disruption could be linked to abnormal skin findings, as normal magnesium homeostasis is necessary for skin health. 24130152 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. 24458433 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability. 21267006 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. 20602808 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis. 19291773 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group LHGDN We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. 17296936 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. 17296936 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. 16955409 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 AlteredExpression group LHGDN De novo and acquired forms of alpha thalassemia. 16537041 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE These findings suggest that mutations in ATRX may cause mental retardation in females, if the X chromosome carrying mutated ATRX is not properly inactivated. 16100724 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. 12116232 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE Given that molecular investigation of XNP/ATR-X mutations is made onerous by the length of the gene transcript, we carried out a prenatal diagnosis in a fetus at risk for ATR-X syndrome by initially determining the XNP/ATR-X gene haplotype before considering gene sequencing. 11559911 2001
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Mutations in the ATRX gene on the human X chromosome cause X-linked alpha-thalassemia and mental retardation. 11069290 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features. 10632111 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE These data provide insights into the understanding of the functional significance of XNP/ATR-X mutations. 11015451 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. 11449489 2000