Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Some authors have demonstrated that adults with congenital or acquired generalized lipoatrophy have decreased leptin concentrations. 10037260

1999

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE This mouse model has no white fat, resulting in abnormal levels of glucose, insulin, and leptin, making the A-ZIP/F-1 mice a good model for lipodystrophy and insulin resistance. 12676562

2003

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 AlteredExpression LHGDN Adipocyte-derived hormone levels in HIV lipodystrophy. 12713059

2003

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 AlteredExpression LHGDN Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. 15983199

2005

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Lipodystrophy in rodents and humans is a severe model of insulin resistance, and we use a novel therapeutic approach with the administration of the newly discovered leptin to ameliorate many of these metabolic abnormalities. 16682936

2006

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE A 36-year-old female with PL associated with a heterozygous PPARG mutation complicated by poorly controlled diabetes and severe, refractory hypertriglyceridaemia was enrolled in a National Institutes of Health (NIH) protocol to evaluate the role of r-metHuLeptin in lipodystrophy. 18076675

2008

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE The aims of this study were to determine whether leptin replacement in lipodystrophy patients ameliorates their metabolic abnormalities over an extended period of time and whether leptin therapy is effective in the different forms of lipodystrophy. 19727665

2010

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE These studies have been instrumental in advancing our understanding of the underlying molecular pathogenesis of ectopic lipid accumulation and insulin resistance, and have prompted the initiation and subsequent adoption of leptin replacement therapy in human lipodystrophies. 19892886

2010

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Patients with severe forms of lipodystrophy are also deficient in adipokines such as leptin, which may contribute to metabolic abnormalities. 20061300

2010

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Leptin and total and high-molecular-weight adiponectin were measured in plasma of 16 BSCL1/AGPAT2 and 19 BSCL2/seipin patients and compared with heterozygous (n = 22) or nonmutated relatives (controls, n = 30); patients with Dunnigan-type partial lipodystrophy due to lamin A/C mutations (n = 23), HIV-related lipodystrophy (n = 124), and insulin receptor dysfunctions caused by mutations or autoantibodies (n = 17). 20097706

2010

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 GeneticVariation BEFREE No influence of the leptin and leptin receptor gene polymorphisms on the occurrence of lipodystrophy and dyslipidemia was observed. 20964254

2010

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Hepatic AMPK plays significant roles in the pathophysiology of lipodystrophy and metabolic action of leptin. 23024365

2012

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 AlteredExpression BEFREE It is also frequent in patients with lipodystrophy where it resolves under leptin therapy. 23651953

2013

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. 25047893

2014

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Leptin is not able to treat typical obesity; however, it is effective for reversing leptin deficiency-induced obesity and is possibly useful in lipodystrophy. 26313897

2015

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Recombinant methionyl human leptin (metreleptin) therapy was shown to improve hyperglycaemia, dyslipidaemia and insulin sensitivity in patients with lipodystrophic syndromes, but its effects on insulin secretion remain controversial.We used dynamic intravenous (i.v.) clamp procedures to measure insulin secretion, adjusted to insulin sensitivity, at baseline and after 1 year of metreleptin therapy, in 16 consecutive patients with lipodystrophy, diabetes and leptin deficiency. 26584826

2016

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Lipodystrophies (LD) are genetic or acquired disorders sharing the symptom of partial or complete adipose tissue deficiency and a dysregulation of adipokines including leptin and adiponectin. 27497155

2016

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 AlteredExpression BEFREE Some or all of these effects are also seen in patients with constitutively low leptin levels, such as occur in lipodystrophy. 27906690

2016

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 AlteredExpression BEFREE Increased expression of inflammatory genes and decreased leptin expression also occur in Cnot3<sup>ad-/-</sup> WAT, achieving levels similar to those in lipodystrophic aP2-nSrebp1c and Pparg<sup>ldi/+</sup> mice; thus, Cnot3<sup>ad-/-</sup> mice exhibit lipodystrophy. 28032897

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Circulating levels of AFABP and EFABP are not decreased in LD despite adipose tissue loss in contrast to other adipokines including leptin and adiponectin. 28088613

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Determine effects of metreleptin on diabetes, hyperlipidemia, nonalcoholic fatty liver disease (NAFLD), growth, and puberty in pediatric patients with lipodystrophy and low leptin. 28324110

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE Analysis of covariance with bootstrapping method was used to examine the relationship between adiponectin and leptin and lipodystrophy categories. 28339344

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE We herein focus on the cross-regulation of fat and bone and propose that marrow fat accumulation and reduced serum leptin and adiponectin levels may play important roles in the pathophysiologic process of osteoporosis in patients with lipodystrophy. 28448764

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 AlteredExpression BEFREE Whether circulating ANGPTL3/4 levels are altered in lipodystrophy and the effects of leptin replacement on these ANGPTLs are unknown. 28502512

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.100 Biomarker BEFREE The effect of recombinant leptin (metreleptin) therapy on facial soft tissue volume in patients with non-human immunodeficiency virus LD has not been quantified to date. 28993984

2017