LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
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 GeneticVariation disease BEFREE Leptin receptor (LepR) deficiency is an autosomal-recessive endocrine disorder causing early-onset severe obesity, hyperphagia and pituitary hormone deficiencies. 31658438 2020
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE While mouse models with deficient IL-6 signaling show an ameliorated but not absent Diethylnitrosamine (DEN)-induced HCC development, the morbid obesity in mice with mutant leptin signaling complicates the dissection of hepatic leptin receptor (LEPR) and IL-6 signaling in HCC development. 30224299 2018
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE We identified a homozygous loss-of-function mutation, NM_002303.5:c.464 T > G; p.(Tyr155*), in the LEPR in an extended consanguineous family with multiple individuals affected by early-onset severe obesity and hyperphagia. 29545012 2018
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertase 1 (PCSK1), leptin receptor (LEPR), or MC4R genes, have been shown to cause early-onset severe obesity. 29726959 2018
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE In the present study we explored the association of six <i>LEPR</i> gene polymorphisms in patients with morbid obesity. 28096764 2016
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density. 26925581 2016
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 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 GeneticVariation disease BEFREE We estimated the prevalence of LEPR mutations in French patients with severe obesity and evaluated mutated patients' phenotype. 25751111 2015
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Association of dopamine D2 receptor and leptin receptor genes with clinically severe obesity. 23670889 2013
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Evaluation of 29 SNPs (P < 1 × 10(-5)) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST). 23563609 2013
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE Disruption of the signal transducer and activator of transcription 3 (STAT3) in the hypothalamic neurons expressing leptin receptor, results in severe obesity, hyperglycaemia, and hyperinsulinemia. 19390493 2009
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Finally, an association between CH and severe obesity has been described in patients with leptin receptor (Leptin-R) mutations. 11964021 2001
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 Biomarker disease BEFREE The massive obesity caused in rodents by the disruption of the leptin-receptor signal through genetic defects at the level of either leptin (OB) or leptin receptor (OB-R) has raised the question of the relevance of these genes to morbid obesity in humans. 9545018 1998
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 CTD_human A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE In summary, our results do not support a major role of the human OBR gene in the development of morbid obesity in our population. 9341859 1997
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Rodents with mutations in the leptin receptor gene develop morbid obesity. 9175732 1997