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: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 AlteredExpression disease BEFREE In conclusion, activation of the leptin receptor ob‑R is an important pathogenic mechanism of UC, and leptin receptor deficiency may provide resistance against TNBS‑induced colitis by inhibiting the NF‑κB and RhoA signaling pathways. 31702041 2019
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease BEFREE A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed. 29568105 2018
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GeneticVariation disease UNIPROT Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect. 25751111 2015
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease GENOMICS_ENGLAND Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery. 23275530 2013
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GermlineCausalMutation disease ORPHANET Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 17229951 2007
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GermlineCausalMutation disease ORPHANET A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 GeneticVariation disease UNIPROT A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 CausalMutation disease CLINVAR
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease CTD_human
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Protein tyrosine phosphatase 1B (PTP1B) has been considered as a promising therapeutic target for type 2 diabetes mellitus (T2DM) and obesity due to its key regulating effects in insulin signaling and leptin receptor pathways. 30611982 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR. 30778850 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE This study designates a strong association for FTO and LEPR variants with the risk of obesity among Egyptian subjects. 30767572 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Protein tyrosine phosphatase 1B (PTP1B) is a major negative regulator of both the insulin and leptin receptor phosphorylation which impacts insulin sensitivity and hence is a major therapeutic target for the treatment of type 2 diabetes and obesity. 31451955 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE The central expression and function of leptin receptor B (LepRb) have been extensively studied during the past two decades; however, the mechanisms by which LepRb signaling dysregulation contributes to the pathophysiology of obesity remains unclear. 30802281 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Endospanin 1 (Endo1), a protein encoded in humans by the same gene than the leptin receptor (ObR), and increased by diet-induced obesity, is an important regulator of ObR trafficking and cell surface exposure, determining leptin signaling strength. 30326479 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE However, LepR deficiency in early life led to irreversible obesity via suppression of energy expenditure. 30694175 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Changes in Oxidized Low-Density Lipoprotein Rather Than in Paraoxonase1 are Associated with Changes in the Leptin/Leptin Receptor Ratio in Obese Children During Weight-Loss Therapy. 30235491 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE A spontaneous leptin receptor point mutation causes obesity and differentially affects leptin signaling in hypothalamic nuclei resulting in metabolic dysfunctions distinct from db/db mice. 31076350 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Influence of K656N Polymorphism of the Leptin Receptor Gene on Obesity-Related Traits in Nondiabetic Afro-Caribbean Individuals. 30807250 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE Secondly, maternal obesity (in the absence of gestational diabetes) was associated with (i) elevated DNA methylation of the leptin promoter on fetal side only, (ii) hypomethylation of the adiponectin promoter on the maternal side only, (iii) significantly low levels of leptin receptor protein (albeit in the absence of differences in mRNA levels and promoter DNA methylation), (iv) significantly low levels of adiponectin receptor 1 mRNA expression on the maternal side only, and (v) elevated DNA methylation of the adiponectin receptor 2 promoter on the maternal side only. 30732639 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE VMH leptin signaling did not ameliorate obesity resulting from LepR deficiency in chow-fed mice. 31314542 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE This work demonstrates identification of novel mutation in LEPR gene resulting into early onset of obesity. 31070016 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE Since leptin resistance is implicated in the pathogenesis of obesity, we herein report the effects of laparoscopic sleeve gastrectomy (LSG) on the serum levels of leptin and leptin receptor, in addition to its overall effect on leptin resistance. 31557979 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease CTD_human Elevated pulmonary arterial pressure in Zucker diabetic fatty rats. 30689673 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE LEPR rs1137101 GG genotype was related to reduced risk of obesity (odds ratio [OR] 0.26, 95% confidence interval [CI] 0.08-0.79; p = 0.018) and MetS (OR 0.36, 95% CI 0.15-0.88; p = 0.024), but it was not significant after Bonferroni correction for multiple tests as compared to the AA genotype (p > 0.01). 28975585 2018