LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Leptin is an adipocyte-secreted hormone, and deficiency of either leptin or its receptor has been shown to cause morbid obesity in animals and in humans. 17728393 2007
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Leptin replacement rescues the phenotype of morbid obesity and hypogonadism in leptin-deficient adults. 18854428 2008
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Leptin therapy reverses morbid obesity related to congenital leptin deficiency and appears to possibly treat lipodystrophy, a finding which has led to the approval of leptin for the treatment of lipodystrophy in the USA and Japan. 26313897 2015
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Leptin receptors belong to glycoprotein 130 (gp130) family of cytokine receptors and exist in six isoforms (LEPR a-f), and all the isoforms are encoded by LEPR gene; out of these isoforms, the LEPR-b receptor is the 'longest form,' and in most of the cases, mutations in this isoform cause severe obesity. 27313173 2016
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE Leptin levels were higher in patients with severe obesity (p < 0.001). 31210052 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Therapeutic disease CTD_human A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease CTD_human A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants. 26179253 2015
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE At the time of follow-up, AMS children exhibited 3-fold lower prevalence of severe obesity (11 vs. 35%, P = 0.004), greater insulin sensitivity (homeostasis model assessment of insulin resistance index 3.4 +/- 0.3 vs. 4.8 +/- 0.5, P = 0.02), improved lipid profile (cholesterol/high-density lipoprotein cholesterol 2.96 +/- 0.11 vs 3.40 +/- 0.18, P = 0.03; high-density lipoprotein cholesterol 1.50 +/- 0.05 vs. 1.35 +/- 0.05 mmol/liter, P = 0.04), lower C-reactive protein (0.88 +/- 0.17 vs. 2.00 +/- 0.34 microg/ml, P = 0.004), and leptin (11.5 +/- 1.5 vs.19.7 +/- 2.5 ng/ml, P = 0.005) and increased ghrelin (1.28 +/- 0.06 vs.1.03 +/- 0.06 ng/ml, P = 0.005) than BMS offspring (AMS vs. BMS, respectively, for all). 19820018 2009
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Circulating miRNAs showed significant association with plasma levels of adipokines; adiponectin, leptin, and L/A ratios in adolescents with severe obesity. 30309709 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity. 31067764 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Congenital leptin deficiency, caused by a very rare mutation in the gene encoding leptin, leads to severe obesity, hyperphagia and impaired satiety. 23799059 2013
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Early-onset severe obesity due to complete deletion of the leptin gene in a boy. 29040067 2017
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Homozygous Leptin(145E/145E) mutant mice exhibited morbid obesity, accompanied by adipose hypertrophy, energy imbalance, and liver steatosis. 21151569 2010
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE However, the leptin 25CAG allele may be linked to morbid obesity in this population. 11140377 2000
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE In order to examine the involvement of leptin in the ossification of spinal ligaments (OSL), the present study examined (i) serum levels of leptin and insulin in OSL patients and controls, (ii) serum leptin levels in children of OSL females with severe obesity, (iii) the expression of leptin receptor mRNA in human spinal ligaments, and (iv) effects of leptin on cultured human ligament cells. 10673363 2000
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE In rodents, homozygous mutations in genes encoding leptin or the leptin receptor cause early-onset morbid obesity, hyperphagia and reduced energy expenditure. 9537324 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE In this issue, we have gathered together a group of essays by some of the world leaders in leptin research, including an overview by Dr Jeffrey Friedman who, in his seminal article in December 1994, described the adipocyte-derived hormone, the lack of which was responsible for the severe obesity in ob/ob mice and suggested that it should be named leptin. 25143632 2014
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Indeed, mutations in the gene's encoding leptin and its cognate receptor cause severe obesity in humans. 12481551 2002
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE Our aim was to investigate the regulation of the gene expression of leptin in subcutaneous adipose tissue biopsies in morbid obesity before and after biliopancreatic diversion (BPD). 12033286 2002
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease CTD_human Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 15070752 2004
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Therapeutic disease CTD_human Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 15070752 2004
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Rare mutations in the leptin (LEP) gene cause severe obesity. 15937081 2005
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE SH2B1 is well-known as an adaptor protein, and deletion of SH2B1 results in severe obesity and both leptin and insulin resistance. 31739166 2020
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE The discovery of the adipocyte hormone leptin and the demonstration that severe obesity in ob/ob and db/db mice results from mutation of genes encoding leptin and its receptor, respectively, ushered in a new era of obesity research. 23722910 2013