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 GeneticVariation disease BEFREE We assessed the efficacy and safety of recombinant human insulin-like growth factor 1 (IGF-1) therapy over a period of 7.5 years in a child with severe IGF-1 deficiency. 19517134 2010
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 GeneticVariation disease BEFREE We have recently reported a patient with a homozygous partial deletion of the insulin-like growth factor-I (IGF-I) gene, resulting in IGF-I deficiency, insulin resistance, and short stature. 10770174 2000
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 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 GeneticVariation disease BEFREE The polymorphisms identified in the upstream core polyadenylation signal at IGF1 exon 6 do not cause IGF1 deficiency as well as pre- and postnatal growth impairment, in contrast to previously reported data. 17895313 2007
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 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 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 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 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 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 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 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 There are eight known genetic causes of short stature characterized by low serum IGF-1 (IGF-1 deficiency, IGFD) and normal GH secretion. 23182818 2012
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE The recent biosynthesis of insulin-like growth factor I has enabled the successful treatment of these patients, accelerating their growth, reducing their obesity, and normalizing their metabolic abnormalities resultant from the insulin-like growth factor I deficiency. 8374676 1993
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.800 Biomarker disease BEFREE These changes were not observed in iLID mice with a short-term (2 days) IGF-I depletion, despite a 70% reduction in their circulating IGF-I levels, indicating that a sustained IGF-I deficiency was necessary to alter the neutrophil phenotype. 29644002 2018
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 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 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 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 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 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 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 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