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 		0.600 GeneticVariation disease BEFREE We assessed a detailed investigation of the methylation status of the 11p15 ICR1 CBS1-7, IGF2DMR0 and H19DMR (H19 promoter) in a population of controls (n=50) and RSS carrying (n=104) or not (n=65) carrying a hypomethylation at the 11p15 ICR1 region. 25395389 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease BEFREE On the other hand, the recent identification of unexpected genetic defects in BWS and SRS patients also brought new insights into the mechanisms of 11p15 imprinting regulation. 23240093 2013
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker 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 		0.600 Biomarker disease BEFREE Those new findings have direct consequences in molecular testing, risk assessment and genetic counseling of BWS and SRS patients. 22150955 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregulation of IGF2 and bi-allelic expression of H19. 21278389 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 AlteredExpression disease BEFREE The H19 gene is abundantly expressed by the human placenta and is implicated in the pathogenesis of congenital growth disorders such as Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes. 21129773 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE Hypomethylation of the differentially methylated region (DMR) of the H19 gene and uniparental disomy of maternal chromosome 7 is present in ∼45% of the patients with SRS so more than half of these patients have no known genetic etiology. 20830799 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker 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 		0.600 Biomarker disease CTD_human Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. 19066168 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE Half of all patients with RSS have hypomethylation of the differentially methylated region of the H19 gene on chromosome 11p15.5. 19814617 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND In addition, we show that complete hypomethylation of the H19 promoter is found in two of three patients with the full clinical spectrum of Silver-Russell syndrome. 16532391 2006
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE In addition, we show that complete hypomethylation of the H19 promoter is found in two of three patients with the full clinical spectrum of Silver-Russell syndrome. 16532391 2006
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease BEFREE This review has briefly considered some of the vast amount of information that has been gathered on genomic imprinting and its role in PWS, AS, BWS and Russell-Silver syndrome. 8879984 1996