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: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		0.400 GermlineCausalMutation disease ORPHANET IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. 18159214 2008
CUI: C1856184
Disease: HEMIHYPERPLASIA, ISOLATED
HEMIHYPERPLASIA, ISOLATED 		0.300 GermlineCausalMutation disease ORPHANET IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. 18159214 2008
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 CausalMutation disease CLINVAR
CUI: C4225307
Disease: GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES 		0.600 CausalMutation disease CLINVAR
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.900 AlteredExpression phenotype BEFREE The infant with IUGR has a higher serum level of IGF2 if has A/G IGF2-ApaI genotype and higher values of IGF2R if it has the A/A genotype. 28460554 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.900 AlteredExpression phenotype LHGDN Placental IGF2 expression in normal and intrauterine growth restricted (IUGR) pregnancies. 17919721 2008
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.900 AlteredExpression phenotype LHGDN A break point 184 kb upstream of the paternally derived IGF2 gene, separating it from some telomeric enhancers, resulted in reduced expression in some mesoderm-derived adult tissues causing intrauterine growth retardation, short stature, lactation failure, and insulin resistance with altered fat distribution. 18728168 2008
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.900 AlteredExpression phenotype BEFREE The increase in the transcription of IGF2 and IGF1R in IUGR term placentas may represent a counter regulatory mechanism in response to the growth retardation. 9491374 1998
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.900 AlteredExpression phenotype BEFREE In placentas from pregnancies with IUGR an overexpression of the IGF-2 and the insulin-like growth factor binding protein (IGFBP)-3 genes was found. 21823995 2011
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.900 AlteredExpression phenotype BEFREE At lower significance, we found IGF2 mRNA decreased and CDKN1C mRNA increased in the IUGR cases. 16125225 2006
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 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 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 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 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 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 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
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 AlteredExpression disease BEFREE Previous reports have demonstrated that expression of insulin-like growth factor 2 (IGF2) is altered in hepatoblastoma. 10789725 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 AlteredExpression disease BEFREE H19 and IGF-2 allele-specific expression in hepatoblastoma. 10732739 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 AlteredExpression disease BEFREE Our results suggest that H19 may play a role as a common imprinted tumor suppressor gene in "sporadic" hepatoblastomas but may at times work independently of IGF2 expression. 10404060 1999
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 AlteredExpression disease LHGDN Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma. 14695992 2004
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 AlteredExpression disease BEFREE Therefore, abnormal methylation was found to be correlated with altered regulation of igf2 and h19 expression in human hepatoblastoma and may be involved in the genesis of this tumor. 9462704 1998
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 AlteredExpression disease BEFREE In the present study, in order to investigate IGF2 gene imprinting status at the cellular level, allelic analysis was performed of IGF2 gene expression transcribed from the P1 and P3 promoters, using reverse transcription polymerase chain reaction (RT-PCR) on human fetal liver and hepatoblastoma. 9713365 1998