MCID: LPT005
MIFTS: 44

Leptin Deficiency malady

Genetic diseases (common) category

Summaries for Leptin Deficiency

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66Wikipedia, 34MalaCards
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MalaCards: Leptin Deficiency is related to obesity and hypogonadism. An important gene associated with Leptin Deficiency is LEP (leptin), and among its related pathways are Development Leptin signaling via PI3K dependent pathway and AMPK signaling. The compounds lep (116-130) (mouse) and hncs have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver, and related mouse phenotypes are adipose tissue and renal/urinary system.

Aliases & Classifications for Leptin Deficiency

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21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

leptin deficiency 21


Related Diseases for Leptin Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Leptin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1obesity30.9GH1, LEP, LEPR, PPARG, LEPQTL1
2hypogonadism30.3GH1, LEPQTL1, LEP
3morbid obesity30.1LEPR, LEP
4insulin resistance30.1LEPR, LEP, LEPQTL1, GH1, PPARG
5fatty liver disease30.0LEP, PPARG
6atherosclerosis29.9LEP, LEPR, LEPQTL1, PPARG
7diabetes mellitus29.9NPPA, NPPB, LEPR, PPARG, GH1, LEPQTL1
8glucose intolerance29.8PPARG, LEPR, LEP, LEPQTL1, GH1
9congenital leptin deficiency10.7
10hepatitis10.2
11central sleep apnea10.1NPPB
12laron syndrome10.1GH1
13bulimia nervosa10.1LEPR, LEP
14adrenal gland hyperfunction10.1GH1, LEP
15familial partial lipodystrophy10.1LEP, PPARG
16sick sinus syndrome10.1NPPA
17hypopituitarism10.1GH1, LEP
18kallmann syndrome10.1LEPR, LEP
19eating disorder10.1NPPB, LEP
20polycystic ovary syndrome10.1GH1, LEP
21obstructive sleep apnea10.1LEPQTL1, LEP
22severe pre-eclampsia10.0LEP, LEPQTL1
23protein-energy malnutrition10.0LEP, LEPQTL1
24marasmus10.0LEPQTL1, GH1
25hypothyroidism10.0LEP, LEPQTL1
26narcolepsy10.0LEP, LEPQTL1
27familial combined hyperlipidemia10.0LEPR, LEPQTL1
28growth hormone deficiency10.0LEP, LEPQTL1, GH1
29uterine fibroid10.0LEPR, LEPQTL1
30precocious puberty10.0LEP, GH1, LEPQTL1
31mitral valve stenosis10.0NPPA, NPPB
32mitral valve insufficiency10.0NPPB, NPPA
33syndrome of inappropriate antidiuretic hormone10.0NPPB, NPPA
34choriocarcinoma10.0GH1, LEP, PPARG
35uremia10.0GH1, LEPQTL1, LEP
36cor pulmonale10.0NPPB, NPPA
37cushing's syndrome10.0LEP, LEPQTL1, GH1
38hyperthyroidism10.0LEP, LEPQTL1, GH1
39heart valve disease10.0NPPA, NPPB
40pituitary tumors10.0LEPR, GH1, PPARG
41hypertensive heart disease10.0NPPA, NPPB
42gestational diabetes10.0LEPR, LEPQTL1, LEP
43congenital generalized lipodystrophy type 210.0LEP, PPARG, LEPQTL1
44aortic valve stenosis10.0NPPA, NPPB
45lipodystrophy10.0LEP, LEPQTL1, PPARG
46infertility10.0LEPQTL1, LEP, LEPR
47hypertriglyceridemia10.0LEPQTL1, LEP, PPARG
48familial hyperlipidemia10.0PPARG, LEPQTL1, LEP
49primary hyperoxaluria10.0NPPA, LEP
50pulmonary disease, chronic obstructive10.0LEPQTL1, NPPB, LEPR

Graphical network of the top 20 diseases related to Leptin Deficiency:



Diseases related to leptin deficiency

Symptoms for Leptin Deficiency

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Drugs & Therapeutics for Leptin Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Leptin Deficiency

Drug clinical trials:

Search ClinicalTrials for Leptin Deficiency

Search NIH Clinical Center for Leptin Deficiency

Search CenterWatch for Leptin Deficiency

Genetic Tests for Leptin Deficiency

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21GeneTests
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Genetic tests related to Leptin Deficiency:

id Genetic test Affiliating Genes
1 Leptin Deficiency21 LEP

Anatomical Context for Leptin Deficiency

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34MalaCards
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MalaCards organs/tissues related to Leptin Deficiency:

34
Bone, Brain, Liver, Lymph node, Lung, Pancreas, Thyroid, Skin, T cells

Animal Models for Leptin Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Leptin Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9LEP, GH1, PPARG, LEPR
2MP:00053678.7PPARG, LEPR, NPPA, LEP
3MP:00053708.6LEPR, LEP, GH1, PPARG
4MP:00053698.2LEPR, PPARG, NPPB, NPPA, LEP
5MP:00053858.0PPARG, LEPR, LEP, NPPA, NPPB

Publications for Leptin Deficiency

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53PubMed
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Articles related to Leptin Deficiency:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Effects of leptin deficiency and replacement on cerebellar response to food-related cues. (22576622)
2013
2
Ablation of ghrelin O-acyltransferase does not improve glucose intolerance or body adiposity in mice on a leptin-deficient ob/ob background. (23630616)
2013
3
Leptin deficiency impairs maturation of dendritic cells and enhances induction of regulatory T and Th17 cells. (24271843)
2013
4
Leptin deficiency and diet-induced obesity reduce hypothalamic kisspeptin expression in mice. (21325051)
2011
5
Leptin deficiency and leptin gene mutations in obese children from Pakistan. (21854111)
2011
6
Leptin deficiency suppresses MMTV-Wnt-1 mammary tumor growth in obese mice and abrogates tumor initiating cell survival. (21636700)
2011
7
Short-term plasticity of gray matter associated with leptin deficiency and replacement. (21613360)
2011
8
Dynamics of plasma proteome during leptin-replacement therapy in genetically based leptin deficiency. (20458342)
2011
9
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. (21340154)
2010
10
Congenital leptin deficiency and thyroid function. (19889232)
2009
11
Effects of leptin replacement on risk factors for cardiovascular disease in genetically leptin-deficient subjects. (18726825)
2009
12
Differences in trabecular bone of leptin-deficient ob/ob mice in response to biomechanical loading. (18566694)
2008
13
Leptin deficiency per se dictates body composition and insulin action in ob/ob mice. (18081560)
2008
14
Changes in insulin sensitivity during leptin replacement therapy in leptin-deficient patients. (18854428)
2008
15
Leptin does not mediate short-term fasting-induced changes in growth hormone pulsatility but increases IGF-I in leptin deficiency states. (18445667)
2008
16
Leptin selectively augments thymopoiesis in leptin deficiency and lipopolysaccharide-induced thymic atrophy. (16785512)
2006
17
Leptin deficiency causes pycnotic change in fetal cingulate cortical cells. (16643594)
2006
18
Activation of the cardiac ciliary neurotrophic factor receptor reverses left ventricular hypertrophy in leptin-deficient and leptin-resistant obesity. (16537512)
2006
19
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. (17003330)
2006
20
Loss of resistin improves glucose homeostasis in leptin deficiency. (17065346)
2006
21
Effect of leptin replacement on brain structure in genetically leptin-deficient adults. (15713712)
2005
22
Long-term prospective and controlled studies demonstrate adipose tissue hypercellularity and relative leptin deficiency in the postobese state. (16131581)
2005
23
Acute leptin deficiency, leptin resistance, and the physiologic response to leptin withdrawal. (15699332)
2005
24
Leptin deficiency prevents the activation of the murine alpaha 2(I) collagen promoter by acetaldehyde. (15130784)
2004
25
Leptin deficiency enhances sensitivity of rats to alcoholic steatohepatitis through suppression of metallothionein. (15475485)
2004
26
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. (15472169)
2004
27
Leptin deficiency enhances myocardial necrosis and lethality in a murine model of viral myocarditis. (15240179)
2004
28
Fibroblast growth factor 19 increases metabolic rate and reverses dietary and leptin-deficient diabetes. (14976145)
2004
29
The inhibition of growth hormone secretion presented in obesity is not mediated by the high leptin levels: a study in human leptin deficiency patients. (12519870)
2003
30
Leptin deficiency, not obesity, protects mice from Con A-induced hepatitis. (11828372)
2002
31
Murine leptin deficiency alters Kupffer cell production of cytokines that regulate the innate immune system. (12360490)
2002
32
Decreased gallbladder response in leptin-deficient obese mice. (12022998)
2002
33
Different presentation of bone mass in mice and humans with congenital leptin deficiency. (11836353)
2002
34
Leptin deficiency reduces but does not eliminate the development of hepatic fibrosis in mice infected with Schistosoma mansoni. (12028413)
2002
35
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. (12393845)
2002
36
Partial leptin deficiency and human adiposity. (11689931)
2001
37
Insulin resistance associated with leptin deficiency in mice: a possible model for noninsulin-dependent diabetes mellitus. (11444594)
2001
38
Synchronicity of frequently sampled thyrotropin (TSH) and leptin concentrations in healthy adults and leptin-deficient subjects: evidence for possible partial TSH regulation by leptin in humans. (11443202)
2001
39
A cutaneous gene therapy approach to human leptin deficiencies: correction of the murine ob/ob phenotype using leptin-targeted keratinocyte grafts. (11427484)
2001
40
Human leptin deficiency and resistance. (11868884)
2001
41
Effects of leptin deficiency and short-term repletion on hepatic gene expression in genetically obese mice. (11574408)
2001
42
Leptin deficiency due to lipid apheresis: a possible reason for ravenous hunger and weight gain. (10702780)
2000
43
Human leptin deficiency and resistance. (11200911)
2000
44
Effect of leptin deficiency on metabolic rate in ob/ob mice. (10070008)
1999
45
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. (10486419)
1999
46
Serum leptin levels in healthy ageing men: are decreased serum testosterone and increased adiposity in elderly men the consequence of leptin deficiency? (10468969)
1999
47
Effect of fasting and leptin deficiency on hypothalamic neuropeptide Y gene transcription in vivo revealed by expression of a lacZ reporter gene. (9564880)
1998
48
Absence of leptin deficiency mutation in extremely obese German children and adolescents. (9426388)
1997
49
Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. (9177239)
1997
50
Congenital leptin deficiency is associated with severe early-onset obesity in humans. (9202122)
1997

Variations for Leptin Deficiency

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Expression for genes affiliated with Leptin Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leptin Deficiency

Search GEO for disease gene expression data for Leptin Deficiency.

Pathways for genes affiliated with Leptin Deficiency

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 54QIAGEN
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Pathways related to Leptin Deficiency according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LEPR, LEP
29.7LEPR, LEP
39.7LEPR, LEP
49.7LEPR, LEP
5
Show member pathways
9.7LEP, LEPR
6
Show member pathways
9.7LEPR, LEP
7
Show member pathways
Type III interferon signaling39
9.3LEPR, LEP, GH1
8
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.3LEPR, LEP, GH1
99.3NPPB, NPPA
109.3GH1, LEP, PPARG
11
Show member pathways
9.3PPARG, LEPR, LEP

Compounds for genes affiliated with Leptin Deficiency

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62Tocris Bioscience, 46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB
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Compounds related to Leptin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1lep (116-130) (mouse)629.9LEPR, LEP
2hncs469.6NPPA, NPPB
3beta-hydroxybutyrate469.6GH1, LEPQTL1, LEP
4p00035469.6NPPB, NPPA
5acipimox46 3010.6LEP, LEPQTL1, GH1
6intralipid469.6GH1, LEPQTL1, LEP
7nash469.6LEPQTL1, LEPR, LEP
8orlistat46 62 1211.5LEP, LEPQTL1, PPARG
9dehydroepiandrosterone sulfate469.5GH1, LEP, LEPQTL1
10alacepril469.5NPPA, NPPB
11candoxatril46 1210.4NPPB, NPPA
12c-peptide469.4GH1, LEP, LEPQTL1
13telmisartan46 30 1211.4PPARG, NPPB, LEP
14olanzapine46 52 30 25 1213.4LEPQTL1, LEP, LEPR
15dhea469.3LEP, LEPQTL1, GH1
16androstenedione46 2510.2LEPR, LEP, LEPQTL1, GH1
17corticosterone46 62 2511.2GH1, LEP, LEPR, LEPQTL1
18metformin46 52 1211.2LEP, PPARG, LEPQTL1, GH1
19ang ii469.2NPPB, NPPA, PPARG
20gnrh469.1LEPR, LEP, LEPQTL1, GH1
21triacylglycerol469.1LEP, LEPQTL1, LEPR
22sodium nitroprusside469.0GH1, NPPA, LEP, NPPB
23phenylephrine46 30 25 1212.0LEP, NPPB, NPPA
24indomethacin46 30 62 1211.9LEP, NPPB, GH1, PPARG
25losartan46 52 30 1211.9NPPB, NPPA, LEP, PPARG
26pravastatin46 52 30 25 1212.9PPARG, NPPB, LEPQTL1, LEP
27prostacyclin468.9NPPB, PPARG, LEP, NPPA
28vitamin d468.9LEPR, GH1, NPPB, PPARG
29lithium46 52 25 1211.8LEPQTL1, NPPB, NPPA
30pioglitazone30 46 52 1211.8PPARG, LEP, NPPB
31acth468.7LEP, LEPR, GH1, NPPA, LEPQTL1
32glycerol46 25 1210.7NPPA, LEPQTL1, PPARG, LEP, GH1
33triiodothyronine468.6LEPR, LEP, LEPQTL1, GH1, NPPB
34l-nmma468.6GH1, LEP, NPPB, NPPA, PPARG
35rosiglitazone30 46 52 25 1212.6GH1, LEPQTL1, LEP, PPARG, NPPB
36estradiol46 25 1210.6LEPR, NPPB, GH1, LEP, LEPQTL1
37progesterone46 30 62 25 1212.5NPPB, GH1, LEPQTL1, LEPR, LEP
38epinephrine46 25 1210.5NPPA, NPPB, LEPQTL1, LEP, GH1
39steroid468.5NPPB, GH1, LEPQTL1, LEP, LEPR
40norepinephrine46 25 1210.5NPPB, LEP, LEPQTL1, GH1, NPPA
41creatinine468.4LEPQTL1, GH1, LEP, NPPB, NPPA
42thyroxine46 259.2PPARG, GH1, LEPQTL1, LEP, NPPB, LEPR
43fatty acid468.2PPARG, LEP, LEPQTL1, GH1, NPPB, LEPR
44dexamethasone46 52 30 1211.2LEPQTL1, NPPB, GH1, PPARG, LEPR, LEP
45glucose468.1LEPQTL1, NPPB, LEPR, PPARG, GH1, LEP
46arginine468.1LEP, NPPB, LEPQTL1, GH1, NPPA, LEPR
47lipid468.1PPARG, LEP, LEPR, NPPB, GH1, LEPQTL1
48testosterone46 62 25 1210.7LEPR, PPARG, LEP, LEPQTL1, GH1, NPPA
49vegf467.7GH1, NPPB, PPARG, LEPR, LEP, LEPQTL1
50estrogen467.7LEP, LEPR, NPPB, NPPA, GH1, LEPQTL1

GO Terms for genes affiliated with Leptin Deficiency

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17Gene Ontology
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Cellular components related to Leptin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.6NPPB, NPPA, GH1, LEP
2extracellular regionGO:0055767.9NPPB, NPPA, GH1, LEP, LEPR

Biological processes related to Leptin Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.8GH1, LEP
2cholesterol metabolic processGO:0082039.7LEPR, LEP
3placenta developmentGO:0018909.6PPARG, LEP
4cGMP biosynthetic processGO:0061829.5NPPA, NPPB
5receptor guanylyl cyclase signaling pathwayGO:0071689.4NPPB, NPPA
6regulation of blood vessel sizeGO:0508809.4NPPB, NPPA
7response to insulinGO:0328689.3NPPA, LEP
8negative regulation of cell growthGO:0303089.0NPPA, NPPB, PPARG
9regulation of blood pressureGO:0082178.7LEP, NPPA, NPPB, PPARG

Molecular functions related to Leptin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:0514289.6NPPA, LEP
2hormone activityGO:0051798.3NPPB, NPPA, GH1, LEP

Products for genes affiliated with Leptin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leptin Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet