RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
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 		0.170 AlteredExpression group BEFREE Each brother presented with intellectual disability and clinical and radiographic features consistent with CLS. qRT-PCR analyses performed on mRNA from the peripheral blood of the three siblings revealed a marked reduction of RPS6KA3 levels suggesting a loss-of-function mechanism. 31512387 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 GeneticVariation group BEFREE The Coffin-Lowry syndrome (CLS) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with growth retardation. 29627578 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 GeneticVariation group BEFREE Analysis of this family suggests that RPS6KA3 duplication is responsible for mild ID, ADHD, and localization-related epilepsy, and possibly for PDD. 23985797 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 GeneticVariation group BEFREE A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3. 21930553 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 AlteredExpression group BEFREE The loss of RSK2 activity in humans leads to Coffin-Lowry syndrome, which is manifested by mental retardation, growth deficits, skeletal deformations, and psychosis. 16537434 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 GeneticVariation group BEFREE Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position. 12599187 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 GeneticVariation group LHGDN X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). 11896450 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.170 Biomarker group HPO