MCID: LPT005
MIFTS: 45

Leptin Deficiency malady

Genetic diseases (common) category
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Summaries for Leptin Deficiency

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Wikipedia:65 Leptin (from Greek ?????? leptos, \"thin\"), the \"satiety hormone\", is a hormone made by fat cells... more...

MalaCards based summary: Leptin Deficiency is related to morbid obesity and central sleep apnea. 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 brain, hypothalamus and bone, and related mouse phenotypes are adipose tissue and renal/urinary system.

Aliases & Classifications for Leptin Deficiency

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Leptin Deficiency, Aliases & Descriptions:

Name: Leptin Deficiency 20 62


Classifications:

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


Related Diseases for Leptin Deficiency

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

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1morbid obesity30.7LEPR, LEP
2central sleep apnea30.7NPPB
3obesity30.5GH1, LEP, LEPR, PPARG, LEPQTL1
4hypogonadism30.4GH1, LEPQTL1, LEP
5fatty liver disease30.2LEP, PPARG
6insulin resistance29.7LEPR, LEP, LEPQTL1, GH1, PPARG
7atherosclerosis29.7LEP, LEPR, LEPQTL1, PPARG
8hypertension29.6PPARG, LEP, NPPA, NPPB
9glucose intolerance29.5PPARG, LEPR, LEP, LEPQTL1, GH1
10diabetes mellitus28.8NPPA, NPPB, LEPR, PPARG, GH1, LEPQTL1
11congenital leptin deficiency10.7
12laron syndrome10.4GH1
13double outlet right ventricle10.3LEPR, LEP
14adrenal gland hyperfunction10.3GH1, LEP
15familial partial lipodystrophy10.3LEP, PPARG
16sick sinus syndrome10.3NPPA
17hypopituitarism10.3GH1, LEP
18kallmann syndrome10.2LEPR, LEP
19eating disorder10.2NPPB, LEP
20polycystic ovary syndrome10.2GH1, LEP
21hepatitis10.2
22obstructive sleep apnea10.2LEPQTL1, LEP
23severe pre-eclampsia10.2LEP, LEPQTL1
24protein-energy malnutrition10.2LEP, LEPQTL1
25marasmus10.2LEPQTL1, GH1
26hypothyroidism10.2LEP, LEPQTL1
27narcolepsy10.2LEP, LEPQTL1
28familial combined hyperlipidemia10.1LEPR, LEPQTL1
29growth hormone deficiency10.1LEP, LEPQTL1, GH1
30uterine fibroid10.1LEPR, LEPQTL1
31precocious puberty10.1LEP, GH1, LEPQTL1
32mitral valve stenosis10.1NPPA, NPPB
33mitral valve insufficiency10.1NPPB, NPPA
34syndrome of inappropriate antidiuretic hormone10.1NPPB, NPPA
35choriocarcinoma10.1GH1, LEP, PPARG
36uremia10.1GH1, LEPQTL1, LEP
37cor pulmonale10.1NPPB, NPPA
38cushing's syndrome10.1LEP, LEPQTL1, GH1
39hyperthyroidism10.1LEP, LEPQTL1, GH1
40bulimia nervosa10.1LEPQTL1, LEPR, LEP
41heart valve disease10.1NPPA, NPPB
42pituitary tumors10.1LEPR, GH1, PPARG
43hypertensive heart disease10.0NPPA, NPPB
44gestational diabetes10.0LEPR, LEPQTL1, LEP
45congenital generalized lipodystrophy type 210.0LEP, PPARG, LEPQTL1
46aortic valve stenosis10.0NPPA, NPPB
47primary pulmonary hypertension10.0NPPA, NPPB
48lipodystrophy10.0LEP, LEPQTL1, PPARG
49infertility10.0LEPQTL1, LEP, LEPR
50hypertriglyceridemia10.0LEPQTL1, LEP, PPARG

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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Drug clinical trials:

Search ClinicalTrials for Leptin Deficiency

Search NIH Clinical Center for Leptin Deficiency

Genetic Tests for Leptin Deficiency

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Genetic tests related to Leptin Deficiency:

id Genetic test Affiliating Genes
1 Leptin Deficiency20 LEP

Anatomical Context for Leptin Deficiency

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MalaCards organs/tissues related to Leptin Deficiency:

32
Brain, Hypothalamus, Bone, Liver, T cells, Lymph node, Cortex, Heart, Lung, Pancreas, Thyroid, Skin

Animal Models for Leptin Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Leptin Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9PPARG, LEPR, LEP, GH1
2MP:00053678.7NPPA, LEP, LEPR, PPARG
3MP:00053708.6PPARG, LEPR, LEP, GH1
4MP:00053698.2NPPB, NPPA, LEP, LEPR, PPARG
5MP:00053858.0PPARG, LEPR, LEP, NPPA, NPPB

Publications for Leptin Deficiency

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Articles related to Leptin Deficiency:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
Genetically altering organismal metabolism by leptin-deficiency benefits a mouse model of amyotrophic lateral sclerosis. (24833719)
2014
2
Morbid obesity attenuates the skeletal abnormalities associated with leptin deficiency in mice. (24990938)
2014
3
Neonatal leptin deficiency reduces frontal cortex volumes and programs adult hyperactivity in mice. (24472638)
2014
4
Effects of leptin deficiency and replacement on cerebellar response to food-related cues. (22576622)
2013
5
Ablation of ghrelin O-acyltransferase does not improve glucose intolerance or body adiposity in mice on a leptin-deficient ob/ob background. (23630616)
2013
6
Leptin deficiency impairs maturation of dendritic cells and enhances induction of regulatory T and Th17 cells. (24271843)
2013
7
Leptin deficiency and diet-induced obesity reduce hypothalamic kisspeptin expression in mice. (21325051)
2011
8
Leptin deficiency and leptin gene mutations in obese children from Pakistan. (21854111)
2011
9
Leptin deficiency suppresses MMTV-Wnt-1 mammary tumor growth in obese mice and abrogates tumor initiating cell survival. (21636700)
2011
10
Short-term plasticity of gray matter associated with leptin deficiency and replacement. (21613360)
2011
11
Dynamics of plasma proteome during leptin-replacement therapy in genetically based leptin deficiency. (20458342)
2011
12
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. (21340154)
2010
13
Congenital leptin deficiency and thyroid function. (19889232)
2009
14
Effects of leptin replacement on risk factors for cardiovascular disease in genetically leptin-deficient subjects. (18726825)
2009
15
Differences in trabecular bone of leptin-deficient ob/ob mice in response to biomechanical loading. (18566694)
2008
16
Leptin deficiency per se dictates body composition and insulin action in ob/ob mice. (18081560)
2008
17
Changes in insulin sensitivity during leptin replacement therapy in leptin-deficient patients. (18854428)
2008
18
Leptin selectively augments thymopoiesis in leptin deficiency and lipopolysaccharide-induced thymic atrophy. (16785512)
2006
19
Leptin deficiency causes pycnotic change in fetal cingulate cortical cells. (16643594)
2006
20
Activation of the cardiac ciliary neurotrophic factor receptor reverses left ventricular hypertrophy in leptin-deficient and leptin-resistant obesity. (16537512)
2006
21
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. (17003330)
2006
22
Loss of resistin improves glucose homeostasis in leptin deficiency. (17065346)
2006
23
Effect of leptin replacement on brain structure in genetically leptin-deficient adults. (15713712)
2005
24
Long-term prospective and controlled studies demonstrate adipose tissue hypercellularity and relative leptin deficiency in the postobese state. (16131581)
2005
25
Leptin deficiency prevents the activation of the murine alpaha 2(I) collagen promoter by acetaldehyde. (15130784)
2004
26
Leptin deficiency enhances sensitivity of rats to alcoholic steatohepatitis through suppression of metallothionein. (15475485)
2004
27
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
28
Leptin deficiency enhances myocardial necrosis and lethality in a murine model of viral myocarditis. (15240179)
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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Expression patterns in normal tissues for genes affiliated with Leptin Deficiency

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Pathways for genes affiliated with Leptin Deficiency

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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 signaling37
9.3LEPR, LEP, GH1
8
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
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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Compounds related to Leptin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1lep (116-130) (mouse)619.9LEPR, LEP
2hncs449.6NPPA, NPPB
3beta-hydroxybutyrate449.6GH1, LEPQTL1, LEP
4p00035449.6NPPB, NPPA
5acipimox44 2810.6LEP, LEPQTL1, GH1
6intralipid449.6GH1, LEPQTL1, LEP
7nash449.6LEPQTL1, LEPR, LEP
8orlistat44 61 1111.5LEP, LEPQTL1, PPARG
9dehydroepiandrosterone sulfate449.5GH1, LEP, LEPQTL1
10alacepril449.5NPPA, NPPB
11candoxatril44 1110.4NPPB, NPPA
12c-peptide449.4GH1, LEP, LEPQTL1
13telmisartan44 28 1111.4PPARG, NPPB, LEP
14olanzapine44 50 28 24 1113.4LEPQTL1, LEP, LEPR
15dhea449.3LEP, LEPQTL1, GH1
16androstenedione44 2410.2LEPR, LEP, LEPQTL1, GH1
17corticosterone44 61 2411.2GH1, LEP, LEPR, LEPQTL1
18metformin44 50 1111.2LEP, PPARG, LEPQTL1, GH1
19ang ii449.2NPPB, NPPA, PPARG
20gnrh449.1LEPR, LEP, LEPQTL1, GH1
21triacylglycerol449.1LEP, LEPQTL1, LEPR
22sodium nitroprusside449.0GH1, NPPA, LEP, NPPB
23phenylephrine44 28 24 1112.0LEP, NPPB, NPPA
24indomethacin44 28 61 1111.9LEP, NPPB, GH1, PPARG
25losartan44 50 28 1111.9NPPB, NPPA, LEP, PPARG
26pravastatin44 50 28 24 1112.9PPARG, NPPB, LEPQTL1, LEP
27prostacyclin448.9NPPB, PPARG, LEP, NPPA
28vitamin d448.9LEPR, GH1, NPPB, PPARG
29lithium44 50 24 1111.8LEPQTL1, NPPB, NPPA
30pioglitazone28 44 50 1111.8PPARG, LEP, NPPB
31acth448.7LEP, LEPR, GH1, NPPA, LEPQTL1
32glycerol44 24 1110.7NPPA, LEPQTL1, PPARG, LEP, GH1
33triiodothyronine448.6LEPR, LEP, LEPQTL1, GH1, NPPB
34l-nmma448.6GH1, LEP, NPPB, NPPA, PPARG
35rosiglitazone28 44 50 24 1112.6GH1, LEPQTL1, LEP, PPARG, NPPB
36estradiol44 24 1110.6LEPR, NPPB, GH1, LEP, LEPQTL1
37progesterone44 28 61 24 1112.5NPPB, GH1, LEPQTL1, LEPR, LEP
38epinephrine44 24 1110.5NPPA, NPPB, LEPQTL1, LEP, GH1
39steroid448.5NPPB, GH1, LEPQTL1, LEP, LEPR
40norepinephrine44 24 1110.5NPPB, LEP, LEPQTL1, GH1, NPPA
41creatinine448.4LEPQTL1, GH1, LEP, NPPB, NPPA
42thyroxine44 249.2PPARG, GH1, LEPQTL1, LEP, NPPB, LEPR
43fatty acid448.2PPARG, LEP, LEPQTL1, GH1, NPPB, LEPR
44dexamethasone44 50 28 1111.2LEPQTL1, NPPB, GH1, PPARG, LEPR, LEP
45glucose448.1LEPQTL1, NPPB, LEPR, PPARG, GH1, LEP
46arginine448.1LEP, NPPB, LEPQTL1, GH1, NPPA, LEPR
47lipid448.1PPARG, LEP, LEPR, NPPB, GH1, LEPQTL1
48testosterone44 61 24 1110.7LEPR, PPARG, LEP, LEPQTL1, GH1, NPPA
49vegf447.7GH1, NPPB, PPARG, LEPR, LEP, LEPQTL1
50estrogen447.7LEP, LEPR, NPPB, NPPA, GH1, LEPQTL1

GO Terms for genes affiliated with Leptin Deficiency

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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:0082039.7LEP, LEPR
3placenta developmentGO:0018909.6PPARG, LEP
4cGMP biosynthetic processGO:0061829.5NPPA, NPPB
5receptor guanylyl cyclase signaling pathwayGO:0071689.4NPPA, NPPB
6regulation of blood vessel sizeGO:0508809.4NPPB, NPPA
7response to insulinGO:0328689.3NPPA, LEP
8negative regulation of cell growthGO:0303089.0NPPB, NPPA, PPARG
9regulation of blood pressureGO:0082178.7NPPB, NPPA, LEP, 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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Sources for Leptin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet