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 GeneticVariation disease BEFREE Mutations in the spermine synthase gene are associated with Snyder Robinson mental retardation syndrome. 30967493 2019
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. 31580924 2019
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE Patients with Snyder-Robinson Syndrome (SRS) exhibit deficient Spermidine Synthase (SMS) gene expression, which causes neurodevelopmental defects and osteoporosis, often leading to extremely fragile bones. 31659216 2019
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. 29348635 2018
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease BEFREE Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. 29348635 2018
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis enzyme, cause Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, little is known about the neuropathogenesis of the disease. 29097652 2017
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE Since dimerization and structural stability are equally important for the wild type function of SpmSyn, it is proposed that the SRS caused by mutations occurring in the N-domain of SpmSyn is a result of dysfunctional mutant proteins being partially unfolded and degraded by the proteomic machinery of the cell or being unable to form a homo-dimer. 26761001 2016
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Clinical exome sequencing identified a novel missense mutation in the spermine synthase gene (SMS) that causes Snyder-Robinson syndrome (SRS). 26174906 2016
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Since dimerization and structural stability are equally important for the wild type function of SpmSyn, it is proposed that the SRS caused by mutations occurring in the N-domain of SpmSyn is a result of dysfunctional mutant proteins being partially unfolded and degraded by the proteomic machinery of the cell or being unable to form a homo-dimer. 26761001 2016
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE Clinical exome sequencing identified a novel missense mutation in the spermine synthase gene (SMS) that causes Snyder-Robinson syndrome (SRS). 26174906 2016
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 Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker disease CLINGEN Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. 25888122 2015
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease BEFREE This investigation deals with a particular SRS-causing mutation, the G56S mutation, which was shown computationally and experimentally to destabilize the SMS homo-dimer and thus to abolish SMS enzymatic activity. 25340632 2014
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 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 UNIPROT We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X). 23897707 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 GENOMICS_ENGLAND We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X). 23897707 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
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation disease UNIPROT 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 We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X). 23897707 2013
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 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