IGF1, insulin like growth factor 1, 3479

N. diseases: 1206; N. variants: 36
Disease: Insulin-Like Growth Factor I Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease CTD_human
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE IGF-I deficiency is associated with prenatal and post-natal growth failure and may arise primarily as a result of GH receptor/post-receptor abnormalities or defects in the synthesis and transport of IGF-I. 10549306 1999
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND IGF-I deficiency is transmitted as an autosomal recessive trait and is caused by homozygous mutations in the IGF1 gene. 21396584 2011
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 GeneticVariation disease BEFREE IGF-I deficiency is a common feature in SS without defined etiology; an Indel in the IGF1 gene was associated with SS. 23596138 2013
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency. 31539878 2019
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. 14684690 2003
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 GermlineCausalMutation disease ORPHANET A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. 14684690 2003
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE A partial IGF-1 deficiency murine model was used to investigate IGF-1's effects on liver by comparing wild-type controls, heterozygous igf1<sup>+/-</sup>, and heterozygous mice treated with IGF-1 for 10 days. 28124277 2017
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Additionally, the impact of IGF-1 deficiency on a damaged liver was investigated in mice with a partial deficit of this hormone (Hz Igf1 <sup>+/-</sup>). 28472963 2017
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 AlteredExpression disease BEFREE Age-related decline in circulating IGF-1 levels results in functional impairment of the cerebral microvessels; however, the mechanistic role of IGF-1 deficiency in impaired hippocampal microvascularization remains elusive. 27613724 2016
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Although IGFD can develop at any level of the GH-releasing hormone (GHRH)-GH-IGF axis, a differentiation should be made between GHD (absent to low GH in circulation) and IGFD (normal to high GH in circulation). 21274339 2010
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE At the lower end of the GHRH-IGF-1 axis, primary IGF-1 deficiency and IGF-1 resistance due to defects within the IGF-1 and IGF-1 receptor (IGF-1R) genes account for approximately 10-15% of all cases with intrauterine and postnatal growth retardation. 23182819 2012
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Based on numerous studies indicating pleiotropic effects of IGF-1 during aging, we compared the central and peripheral effects of circulating IGF-1 deficiency on tissue mitochondrial function using an inducible liver IGF-1 knockout (LID). 31732912 2020
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Because Insulin-like-Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be considered as a form of IGF-I deficiency (IGFD). 21396573 2011
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Commentary - A Homozygous Mutation in the Highly Conserved Tyr60 of the Mature IGF1 Peptide Broadens the Spectrum of IGF1 Deficiency. 31614333 2019
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Endocrine evaluations (normal provocative GH tests; low serum IGF-I, -3.7 SDS, and IGF-binding protein-3, -4.5 SDS) were consistent with GHI and IGFD. 22419735 2012
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 CausalMutation disease CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 AlteredExpression disease BEFREE In our previous reports, liver- or pancreatic-specific IGF-I deficiency caused no decrease in β-cell mass; a general and β-cell-enriched IGF-I overexpression caused no change in normal islet cell growth. 19876774 2010
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). 28502327 2017
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 GermlineCausalMutation disease ORPHANET Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. 8857020 1996
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. 8857020 1996
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 GeneticVariation disease BEFREE Long-term auxological and pubertal outcome of patients with hereditary insulin-like growth factor-I deficiency (Laron and growth hormone-gene deletion syndrome) treated with recombinant human insulin-like growth factor-I. 20543555 2011
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Our data showed that blood levels of growth hormone, which stimulates IGF-1 production in liver, were increased but could not overcome the IGF-1 deficiency. 31791247 2019
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE Primary Insulin like growth factor 1 (IGF - 1) deficiency in short stature can present with normal or elevated growth hormone (GH) production. 30197657 2018
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE The aim of this work was to confirm that heterozygous Igf-1 (+/-) mice (Hz) may be considered as an appropriate animal model to study conditions of IGF-1 deficiency, focusing on early ages. 24043429 2014