SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 CausalMutation disease CLINVAR
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CTD_human
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease GENOMICS_ENGLAND Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. 5823961 1969
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 14508504 2003
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease UNIPROT X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 14508504 2003
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism. 18367445 2008
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 AlteredExpression disease BEFREE Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development. 18550699 2008
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development. 18550699 2008
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease UNIPROT Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development. 18550699 2008
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome. 19206178 2009
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease UNIPROT Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome. 19206178 2009
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome. 19206178 2009
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE Snyder-Robinson syndrome (SRS) is a form of X-linked mental retardation resulting from mutations in spermine synthase (SMS), which impact neurodevelopment and cognitive outcome. 19277733 2009
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Mouse models to investigate the function of spermine. 19641749 2009
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN There was also an increase in dcAdoMet in cells derived from patients with Snyder-Robinson syndrome, a rare X-linked recessive human disease caused by SMS gene mutations that greatly reduce the content of spermine synthase. 20950271 2011
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN They also provide a potential animal model for Snyder-Robinson syndrome (SRS), a rare human inherited disease due to a loss of SpmS activity. 21318872 2011
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease BEFREE Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). 21318891 2011
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN To investigate the mutability of the SMS, we carried out in silico analysis and in vitro experiments of the effects of amino acid substitutions at the missense mutation sites (G56, V132 and I150) that have been shown to cause SRS. 21647366 2011
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE To investigate the mutability of the SMS, we carried out in silico analysis and in vitro experiments of the effects of amino acid substitutions at the missense mutation sites (G56, V132 and I150) that have been shown to cause SRS. 21647366 2011
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN It was shown that gene defects resulting in amino acid changes of the wild type SMS cause Snyder-Robinson syndrome, which is a mild-to-moderate mental disability associated with osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. 23468611 2013
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE It was shown that gene defects resulting in amino acid changes of the wild type SMS cause Snyder-Robinson syndrome, which is a mild-to-moderate mental disability associated with osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. 23468611 2013
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 23696453 2013
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 23696453 2013