Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation BEFREE Ten cases had leptin deficiency (12.5%), while 18 cases showed elevated leptin levels (22.5%). 31483094

2020

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE However, short-term leptin substitution can increase the blood pressure and heart rate in obese humans with leptin deficiency, indicating that leptin plays at least an additive role in obesity-associated hypertension. 31357197

2019

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Preterm delivery leads to premature separation from the maternal and placental leptin source predisposing infants to postnatal leptin deficiency, but this has not been fully described. 30845123

2019

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE While leptin replacement therapy fails to provide substantial benefit in common obesity, it is an effective treatment for congenital leptin deficiency and states of acquired leptin deficiency such as lipodystrophy. 30475221

2019

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation BEFREE We propose that this expanded framework for understanding the mechanisms underlying leptin deficiency arising from genetic mutations may be useful in designing therapeutics for leptin-associated disorders. 29950524

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE The observation of leptin deficiency in patients with lipodystrophy and the potential of leptin replacement to rescue metabolic abnormalities in animal models of lipodystrophy were followed by the first clinical study of leptin therapy in patients with severe lipodystrophy. 30370487

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Because uncontrolled diabetes is associated with both leptin deficiency and hyperglucagonemia, and because intracerebroventricular (ICV) leptin administration reverses both hyperglycemia and hyperglucagonemia in this setting, we hypothesized that deficient leptin inhibition of LPBNCCK neurons drives activation of this LPBN→VMN circuit and thereby results in hyperglucagonemia. 29438473

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Future studies should assess leptin as a subfertility treatment in human leptin-deficiency disorders. 30021121

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Changes in Satiety Hormones in Response to Leptin Treatment in a Patient with Leptin Deficiency. 29996141

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Measurement of immunofunctional leptin to detect and monitor patients with functional leptin deficiency. 28007844

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation BEFREE This dual-cassette vector achieves highly selective transduction of visceral fat while severely restricting off-target transduction of liver.As proof of efficacy, i.p. administration of an adipose-targeting Rec2 vector harboring the leptin gene corrects leptin deficiency, obesity, and metabolic syndromes of <i>ob</i>/<i>ob</i> mice. 28702474

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Leptin deficiency in mice counteracts imiquimod (IMQ)-induced psoriasis-like skin inflammation while leptin stimulation induces inflammation in human keratinocytes. 27488462

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Experimental studies using animal models of a low leptin state such as leptin deficiency have shown that leptin regulates sleep architecture, upper airway patency, ventilatory function, and hypercapnic ventilatory response. 28796527

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 AlteredExpression BEFREE The leptin staining intensity suggested that ART alone may lead to increased leptin expression, whereas ART combined with a HCD may cause leptin deficiency. 28606728

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Repleting leptin reverses the starvation signal both in physiologic starvation and in obesity resulting from genetic leptin deficiency. 28648981

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Although the effects of leptin deficiency on reproduction are well recognized, the effect of excess leptin on male reproductive function is not clear. 27324433

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 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: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Leptin deficiency protected ob/ob mice from the development of autoantibodies and renal disease and increased the frequency of immunoregulatory T cells (Tregs) compared with leptin-sufficient WT mice. 27588900

2016

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 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: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Importantly, administration of recombinant human leptin in leptin deficiency represents the first mechanistically based targeted therapy for obesity and has provided immense clinical benefits for the patients concerned. 25232148

2014

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Study 1: 15 lean subjects received placebo or physiologic replacement-dose recombinant human leptin (metreleptin) following short term complete caloric deprivation to induce severe hypoleptinemia; Study 2: 7 women with relative leptin deficiency due to strenuous exercise or low weight received 3 months of metreleptin; Study 3: 17 women with relative leptin deficiency were randomized to receive metreleptin or placebo over 9 months. 24703486

2014

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE Leptin's physiological functions as well as deleterious effects in states of leptin deficiency or hyperleptinemia are emphasized. 23374894

2013

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 Biomarker BEFREE In uncontrolled human studies, low leptin levels are associated with impaired immune responses and reduced T-cell counts; however, the effects of leptin replacement on the adaptive immune system have not yet been reported in the context of randomized, controlled studies and/or in conditions of chronic acquired leptin deficiency. 23382191

2013

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 AlteredExpression BEFREE Our results suggest an involvement of leptin in antidepressant action and cognitive function in depression with genetic polymorphisms in the leptin gene, decreased leptin gene expression and leptin deficiency in serum being risk factors for resistance to antidepressant therapy in depressed patients. 23026132

2013

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 AlteredExpression BEFREE Similarly, leptin deficiency is associated with thyroid axis abnormalities including abnormal levels of thyrotropin-releasing hormone, and leptin administration may at least partially attenuate this effect. 22665330

2012