IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
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 A subset of RS cases were recently shown to have mosaic hypomethylation within the H19/IGF2 imprinting center, predicted to silence paternally expressed IGF2 in early development. 18473334 2008
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 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 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 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 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 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 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 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 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 Biomarker disease CTD_human 53% of the 201 patients initially enrolled fulfilled the criteria for SRS and about 40% of them exhibited an epimutation at the H19-IGF2 locus. 19066168 2009
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 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 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 In humans, germline-derived or post-zygotically acquired imprinting defects at IC1 are associated with aberrant activation or repression of IGF2, resulting in the congenital growth disorders Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes, respectively. 18365005 2008
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 CausalMutation disease CLINVAR
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 AlteredExpression disease BEFREE These results suggest (1) characteristic phenotype and reduced IGF2 expression in the epimutation-positive placentas; (2) similarities and differences in the epigenetic control of the IGF2-H19 domain between leukocytes and placentas; (3) a positive role of the IGF2 expression level, as reflected by the methylation index, in the determination of body and placental growth in epimutation-positive patients, except for the brain where IGF2 is expressed biallelically; (4) involvement of placental dysfunction in prenatal growth failure; and (5) relevance of both (epi)genetic factor(s) and environmental factor(s) to SRS in epimutation-negative patients. 18607558 2008
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 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 Biomarker disease BEFREE IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. 18159214 2008
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 AlteredExpression disease BEFREE The median IGF-II serum level in SRS was 441 microg/liter (range, 238-875). 16940449 2006
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 GeneticVariation disease BEFREE 53% of the 201 patients initially enrolled fulfilled the criteria for SRS and about 40% of them exhibited an epimutation at the H19-IGF2 locus. 19066168 2009