Disease: Russell-Silver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE We report deletions close to the boundaries of ICR1 on the paternal allele in one familial and two sporadic cases of SRS with ICR1 hypomethylation. 27701793 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. 26691664 2016
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE The hypomethylation does not spread equally throughout the IGF2/ICR1/H19 locus, and some loci could have normal MI, which may lead to underdiagnosis of patients with RSS with ICR1 hypomethylation. 25395389 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE Forty-six Likely-SRS patients (76.7%) displayed either 11p15 ICR1 hypomethylation (n=35; 58.3%) or maternal UPD of chromosome 7 (mUPD7) (n=11; 18.3%). 25951829 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE We previously identified a subset of RSS patients with 11p15 ICR1 and multilocus hypomethylation. 25044976 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 PosttranslationalModification disease BEFREE ICR1 methylation defects cause abnormal expression of imprinted genes, leading to Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS). 24299031 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE We suggest that the occurrence of CHD in SRS with 11p15 ICR1 hypomethylation is not coincidental, but specific to this genotype. 23401077 2013
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE To the best of our knowledge, this is the first report of a patient with maternally inherited trans-duplication of the entire imprinting control region 1 (ICR1) among the 11p15.5 duplications reported in SRS patients. 23225375 2013
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 PosttranslationalModification disease BEFREE DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 21863054 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE For this purpose, 18 children with SRS (11 with ICR1 hypomethylation) and 9 children small for gestational age (SGA), serving as controls, were recruited. 22248018 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE Fibroblast cultures from one patient with SRS due to ICR1 demethylation and controls were established. 22170793 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE A loss of DNA methylation (LOM) at ICR1 is identified in over 50% of patients with Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, spared cranial growth, frequent body asymmetry and severe feeding difficulties. 23182821 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). 21458801 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 AlteredExpression disease BEFREE Most frequently, SRS is caused by altered gene expression on chromosome 11p15 due to hypomethylation of the telomeric imprinting center (ICR1) that is present in at least 40% of the patients. 21910219 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Patients with ICR1 hypomethylation are more likely to have classical features of SRS, including asymmetry; patients with mUPD7 are more likely to have learning difficulties, particularly speech problems, although these are usually mild. 21349887 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 PosttranslationalModification disease BEFREE A promoter element of IGF2, IGF2P0, is differentially methylated equivalently to the H19-ICR, though in a small number of SRS cases this association is disrupted--that is, hypomethylation affects either H19-ICR or IGF2P0. 21278389 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 PosttranslationalModification disease BEFREE DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 20007505 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 AlteredExpression disease BEFREE To further characterize the role of epimutations in RSS we evaluated the methylation status at both 11p15.5 imprinting control regions (ICRs): ICR1 associated with H19/IGF2 expression and ICR2 (KvDMR1) associated with CDKN1C expression in a series of 35 patients with RSS. 20082469 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 PosttranslationalModification disease BEFREE Thus we assume that genomic mutations of MBD3 are not relevant for the aetiology of the ICR1 hypomethylation and therefore for SRS. 20004753 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE ICR1 hypomethylation was more likely to be scored as 'classical' SRS. 20685669 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS. 19066168 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE H19 ICR hypomethylation was found in 62% of SRS patients but in no SGA children. 19017756 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. 19755383 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE In a previous study' we showed that the ICR1 epimutation is not present in growth retarded patients with dysmorphisms not typical for SRS, but its role in the development of isolated growth restriction needed to be further elucidated. 18404973 2008
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE These results show that ICR1 hypomethylation occurs more often in SRS patients than as previously thought as well as in isolated hemihypoplasia. 18159214 2008