GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
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 		0.100 GeneticVariation disease BEFREE Derangements of GH peak were detected in 61.5% of studied patients while IGF-1 deficiency was detected in 71% of the population. 31527400 2019
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 AlteredExpression disease BEFREE Additionally, we found that the inability of growth hormone to restore the IGF-1 deficiency was associated with suppressed expression and signaling of growth hormone receptor in liver. 31791247 2019
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 AlteredExpression disease BEFREE Two patients showed IGF‑1 deficiency with normal growth hormone level. 31115572 2019
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 GeneticVariation 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 		0.100 Biomarker disease BEFREE Pre-treatment growth and IGF-I deficiency as main predictors of response to growth hormone therapy in neural models. 29242356 2018
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in <i>ARID1B</i> patients. 28695822 2017
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE A 2-year longitudinal study was performed to estimate the prevalence of GH and/or IGF-1 deficiency in clinically isolated syndrome (CIS) patients and their correlation with conversion to MS in IFN treated patients. 27982500 2017
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE It is well documented that the cardiovascular system is an important target organ for growth hormone (GH) and insulin-like growth factor (IGF)-1 in humans, and GH /IGF-1 deficiency significantly increases the risk for cardiovascular diseases (CVD). 29375617 2017
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 deficiency. 27030147 2016
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 GeneticVariation disease BEFREE The critical importance of STAT5B in human IGF-I production was confirmed with the identification of the first homozygous, autosomal recessive, STAT5B mutation in a young female patient who phenotypically resembled patients with classical growth hormone insensitivity (GHI) syndrome (Laron syndrome) due to mutations in the GHR gene, presenting with severe postnatal growth failure and marked IGF-I deficiency. 26703237 2016
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 AlteredExpression disease BEFREE Individuals with Laron syndrome carry mutations in the GHR gene resulting in severe congenital IGF-1 deficiency and elevated GH serum levels leading to short stature as well as perturbed lipid and glucose metabolism. 26510874 2015
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE Also, mouse models with developmental GH/IGF-I deficiency/resistance are less susceptible to genetic- or chemical-induced mammary tumorigenesis. 25085903 2014
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 GeneticVariation disease BEFREE Mutations in the human growth hormone receptor gene (GHR) are the most common cause of growth hormone insensitivity (GHI) syndrome and insulin-like growth factor (IGF-1) deficiency. 24296660 2013
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 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 		0.100 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 		0.100 GeneticVariation disease BEFREE Insulin-like growth factor-I deficiency in children with growth hormone insensitivity: current and future treatment options. 19627167 2009
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations. 18073295 2008
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 GeneticVariation disease BEFREE There are currently four known genetic causes of GH insensitivity/primary IGF deficiency: GH receptor deficiency (also known as Laron syndrome or GH insensitivity syndrome), IGF-1 deficiency, signal transducer and activator of transcription 5b (STAT5b) deficiency and acid labile subunit (ALS) deficiency. 17986822 2007
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE Since low dose injection of growth hormone (GH) normalized the response to exogenous insulin in RPTPsigma-/- mice, we propose that the insulin hypersensitivity observed in RPTPsigma-/- mice is secondary to their neuroendocrine dysplasia and GH/IGF-1 deficiency. 16998539 2006
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.100 Biomarker disease BEFREE Partial growth hormone (GH) insensitivity can be defined as the clinical and biochemical features of IGF-I deficiency without GH deficiency and in the absence of the dysmorphic features of Laron syndrome. 10698589 1999