IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
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 		0.700 AlteredExpression disease BEFREE Furthermore, while both IGF2 mutations and H19/IGF2:IG-DMR epimutations lead to SRS, a certain degree of phenotypic difference is observed between the two groups, probably due to the different IGF2 expression pattern in target tissues. 31544945 2020
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE Functional experiments were then used to link these genes into a regulatory pathway.ResultsWe report the first mutations of the PLAG1 gene in humans, as well as new mutations in HMGA2 and IGF2 in six sporadic and/or familial cases of SRS. 28796236 2018
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE We identified, through whole-exome sequencing, a de novo IGF2 indel mutation leading to frameshift (NM_000612.5:c.110_117delinsAGGTAA, p.(Leu37Glnfs*31)) in a patient with Silver-Russell syndrome, ectrodactyly, undermasculinized genitalia, developmental delay, and placental hypoplasia. 28489339 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE Our study provides further evidence that IGF2 mutation may be another mechanism of SRS, and we consider that IGF2 should be included in a disease specific gene panel in case it is designed for SRS routine diagnostics. 28848601 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE However, no paternal deletions of ICR1 have ever been associated with hypomethylation of the IGF2/H19 domain in SRS. 27701793 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE Here, we assess the value of IGF-2 in relation to SRS. 28675902 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). 28870985 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE This study shows that paternal IGF2/H19 domain triplication results in BWS, gives additional support to the hypothesis that the maternal amplification of IGF2/H19 domain may lead to the manifestation of SRS and underlines difficulties of genetic counseling in patients with CNVs involving the 11p15.5 region. 27612309 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE Insulin-like growth factor 2 (a major fetal growth factor) has been implicated in the pathophysiology of SRS, as the principle molecular mechanism underlying the disease is loss of methylation of the 11p15 region, including the imprinted insulin-like growth factor 2 gene. 27386972 2016
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE Loss of imprinting at the IGF2/ICR1/H19 domain results in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome and Russell Silver syndrome (RSS). 25395389 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 AlteredExpression disease BEFREE Furthermore, the dysmorphic features of affected family members are consistent with a role of deficient IGF-II levels in the cause of the Silver-Russell syndrome. 26154720 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Furthermore, the dysmorphic features of affected family members are consistent with a role of deficient IGF-II levels in the cause of the Silver-Russell syndrome. 26154720 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE The aim of this in-vitro study was to examine: 1) if IGF-I- and IGF-II-induced fibroblast growth is different in SRS children with IGF2/H19 hypomethylation compared to controls; and 2) whether there is IGF-I insensitivity in this subgroup of SRS children due to IGF-I post-receptor signaling defects. 25066218 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 AlteredExpression disease BEFREE We investigated whether common variation in copy number in the BWS/SRS 11p15 region or altered methylation levels at IGF2/H19 ICR or KCNQ10T1 ICR was associated with SGA. 24934635 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. 24038823 2013
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE These findings suggest as causative in SRS a defective mechanism necessary for establishment or maintenance of imprinting marks, which affects imprinted loci in general with low specificity and the IGF2/H19 locus with high specificity, implying the existence of some structural peculiarities at the IGF2/H19 locus. 22248018 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE Our case of growth restriction, premature pubarche and insulin resistance in the absence of body asymmetry or other features of SRS adds to the expanding phenotype of IGF2/H19 methylation abnormalities. 22646060 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 AlteredExpression disease BEFREE The two alternative chromatin conformations are differently favoured in BWS and SRS likely predisposing the locus to the activation of IGF2 or H19, respectively. 21282187 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 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 		0.700 GeneticVariation disease BEFREE Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. 20385510 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 Biomarker disease BEFREE Silver-Russell syndrome (SRS) describes a uniform malformation syndrome characterized by intrauterine and postnatal growth restriction and morphological abnormalities including a small triangular face, relative macrocephaly, asymmetry of the head and limbs, and clinodactyly V. In >38% of SRS cases a hypomethylation of the H19/IGF2 DMR in 11p15 can be detected. 19632365 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 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 		0.700 Biomarker disease BEFREE The role of 11p15 disturbances in the aetiology of Silver-Russell syndrome (SRS) is well established: in addition to hypomethylation of the H19/IGF2 differentially methylated regions, five patients with a duplication of maternal 11p15 material have been described. 20503324 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation 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 		0.700 AlteredExpression disease BEFREE Our results are consistent with the idea that reduced expression of IGF2 plays a role in the aetiology of the human imprinting-related growth-deficit disorder, Silver-Russell syndrome. 20062522 2010