MCID: LPT005
MIFTS: 40

Leptin Deficiency malady

Summaries for Leptin Deficiency

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64Wikipedia, 33MalaCards
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Wikipedia:64 Leptin (Greek λεπτός (leptos) meaning \"thin\") is a 16-kDa adipokine that plays a key role in... more...

MalaCards: Leptin Deficiency is related to growth hormone deficiency and insulin resistance. An important gene associated with Leptin Deficiency is LEP (leptin), and among its related pathways are Development Leptin signaling via JAK/STAT and MAPK cascades and Adipocytokine signaling pathway. The compounds estradiol and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are liver/biliary system and adipose tissue.

Aliases & Classifications for Leptin Deficiency

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20GeneTests
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Aliases & Descriptions:

leptin deficiency 20


Related Diseases for Leptin Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Leptin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency30.1LEP, GH1, LSL
2insulin resistance30.1LSL, NPY, PPARG, GH1, IL18, LEP
3acute pancreatitis29.9CCK, IL18
4morbid obesity29.9LEPR, LEP, LSL, CCK
5fatty liver disease29.9LEPR, LEP, PPARG, LSL
6atherosclerosis29.9LEPR, LEP, IL18, PPARG, LSL
7prader-willi syndrome29.9CCK, LSL, NPY, GH1, LEP, LEPR
8glucose intolerance29.9LSL, NPY, PPARG, GH1, LEP, LEPR
9congenital leptin deficiency10.6
10t cell deficiency10.3
11leptin receptor deficiency10.3
12b cell deficiency10.2
13decr deficiency10.1
14amenorrhea10.0LEP
15hepatitis10.0IL18
16allergic rhinitis10.0IL18
17rhinitis10.0NPY
18acanthosis nigricans10.0LEP
19adenocarcinoma10.0CCK
20huntington's disease10.0NPY
21pancreatitis10.0CCK
22alcohol dependence10.0NPY
23asthma10.0IL18
24thyroid cancer10.0PPARG
25endometriosis10.0LEPR
26lupus erythematosus10.0IL18
27peptic ulcer10.0CCK
28nephrotic syndrome10.0LEPR
29constipation10.0CCK
30panic disorder10.0CCK
31dermatitis10.0IL18
32myoma10.0LEPR
33severe pre-eclampsia10.0LEP, LSL
34hypothyroidism10.0LSL, LEP
35hepatocellular carcinoma10.0LEPR
36myocardial infarction10.0NPY, LSL
37familial partial lipodystrophy10.0PPARG, LEP
38relapsing-remitting multiple sclerosis10.0IL18, LSL
39osteoarthritis10.0IL18, NPY
40laron syndrome10.0GH1
41schizophrenia10.0NPY, CCK
42neuroepithelioma10.0NPY, CCK
43leukemia10.0CNTFR, LEPR
44hepatitis c10.0LEPR, IL18
45cholestasis10.0CCK
46coronary heart disease10.0LEP, IL18, NPY
47proteinuria10.0LSL
48congenital generalized lipodystrophy type 210.0LSL, PPARG, LEP
49metabolic syndrome x10.0LSL, PPARG, LEP
50hypertriglyceridemia10.0LSL, PPARG, LEP

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



Diseases related to leptin deficiency

Clinical Features for Leptin Deficiency

Drugs & Therapeutics for Leptin Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests
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Genetic tests related to Leptin Deficiency:

id Genetic test Affiliating Genes
1 Leptin Deficiency20 LEP

Anatomical Context for Leptin Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Leptin Deficiency:

33
Skin, Liver, Brain, Lymph node, Lung, Heart, Pancreas, Thyroid, T cells, B cells, Fetal brain, Ciliary ganglion, Hypothalamus, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Leptin Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Leptin Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3NPY, PPARG, GH1, LEP, LEPR
2MP:00053758.3LEPR, NPY, PPARG, GH1, IL18, LEP
3MP:00053768.0LEPR, LEP, IL18, GH1, PPARG, NPY
4MP:00036317.3CCK, NPY, PPARG, GH1, CNTFR, IL18

Publications for Leptin Deficiency

Sources:
51PubMed
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Articles related to Leptin Deficiency:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Effects of leptin deficiency and replacement on cerebellar response to food-related cues. (22576622)
2013
2
Leptin deficiency impairs maturation of dendritic cells and enhances induction of regulatory T and Th17 cells. (24271843)
2013
3
Leptin deficiency modulates allograft survival by favoring a Th2 and a regulatory immune profile. [corrected]. (23016759)
2013
4
A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients. (23009903)
2012
5
Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. (22194312)
2012
6
Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. (22523380)
2012
7
Leptin Deficiency and Its Effects on Tibial and Vertebral Bone Mechanical Properties in Mature Genetically Lean and Obese JCR:LA-Corpulent Rats. (22888408)
2012
8
Leptin deficiency and diet-induced obesity reduce hypothalamic kisspeptin expression in mice. (21325051)
2011
9
Leptin deficiency and leptin gene mutations in obese children from Pakistan. (21854111)
2011
10
Leptin deficiency suppresses MMTV-Wnt-1 mammary tumor growth in obese mice and abrogates tumor initiating cell survival. (21636700)
2011
11
Short-term plasticity of gray matter associated with leptin deficiency and replacement. (21613360)
2011
12
Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. (21285324)
2011
13
Caloric restriction in leptin deficiency does not correct myocardial steatosis: failure to normalize PPAR{alpha}/PGC1{alpha} and thermogenic glycerolipid/fatty acid cycling. (21427359)
2011
14
Neuroglial metabolic compartmentation underlying leptin deficiency in the obese ob/ob mice as detected by magnetic resonance imaging and spectroscopy methods. (21971349)
2011
15
Leptin deficiency-induced obesity exacerbates ultraviolet B radiation-induced cyclooxygenase-2 expression and cell survival signals in ultraviolet B-irradiated mouse skin. (20122948)
2010
16
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency? (19004982)
2009
17
The effect of leptin receptor deficiency and fasting on cannabinoid receptor 1 mRNA expression in the rat hypothalamus, brainstem and nodose ganglion. (19596404)
2009
18
Leptin deficiency: clinical implications and opportunities for therapeutic interventions. (19730134)
2009
19
Leptin deficiency per se dictates body composition and insulin action in ob/ob mice. (18081560)
2008
20
Leptin does not mediate short-term fasting-induced changes in growth hormone pulsatility but increases IGF-I in leptin deficiency states. (18445667)
2008
21
Partial leptin deficiency favors diet-induced obesity and related metabolic disorders in mice. (18349116)
2008
22
Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. (17603293)
2007
23
Leptin deficiency leads to the regulation of kinin receptors expression in mice. (17184856)
2007
24
Leptin selectively augments thymopoiesis in leptin deficiency and lipopolysaccharide-induced thymic atrophy. (16785512)
2006
25
Leptin deficiency causes pycnotic change in fetal cingulate cortical cells. (16643594)
2006
26
CSF versus serum leptin in narcolepsy: is there an effect of hypocretin deficiency? (16944669)
2006
27
Serum ghrelin and leptin levels in adult growth hormone deficiency syndrome. (16740431)
2006
28
Influence of a leptin deficiency on testicular morphology, germ cell apoptosis, and expression levels of apoptosis-related genes in the mouse. (16304204)
2006
29
Long-term prospective and controlled studies demonstrate adipose tissue hypercellularity and relative leptin deficiency in the postobese state. (16131581)
2005
30
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
31
Transgenic complementation of leptin receptor deficiency. II. Increased leptin receptor transgene dose effects on obesity/diabetes and fertility/lactation in lepr-db/db mice. (14600075)
2004
32
Role of leptin deficiency in early acute renal failure during endotoxemia in ob/ob mice. (14978166)
2004
33
Different presentation of bone mass in mice and humans with congenital leptin deficiency. (11836353)
2002
34
Spontaneous nocturnal leptin secretion in children with myelomeningocele and growth hormone deficiency. (12218376)
2002
35
Partial leptin deficiency and human adiposity. (11689931)
2001
36
Effects of leptin deficiency and short-term repletion on hepatic gene expression in genetically obese mice. (11574408)
2001
37
Leptin does not play a major role in platelet aggregation in obesity and leptin deficiency. (11595779)
2001
38
Transgenic complementation of leptin-receptor deficiency. I. Rescue of the obesity/diabetes phenotype of LEPR-null mice expressing a LEPR-B transgene. (11272157)
2001
39
Circadian and ultradian rhythm and leptin pulsatility in adult GH deficiency: effects of GH replacement. (11502770)
2001
40
Leptin deficiency induced by fasting impairs the satiety response to cholecystokinin. (11108253)
2000
41
Hyperleptinaemia in young adults following cranial irradiation in childhood: growth hormone deficiency or leptin insensitivity? (10396357)
1999
42
Serum leptin levels in healthy ageing men: are decreased serum testosterone and increased adiposity in elderly men the consequence of leptin deficiency? (10468969)
1999
43
Serum leptin response to the acute and chronic administration of growth hormone (GH) to elderly subjects with GH deficiency. (10199769)
1999
44
Obesity in the Prader-Labhart-Willi syndrome is not due to leptin deficiency but is accentuated by hypogonadism in male patients. (10619990)
1999
45
Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. (10523015)
1999
46
Effect of growth hormone (GH) on serum concentrations of leptin: study in patients with acromegaly and GH deficiency. (9768649)
1998
47
Absence of leptin deficiency mutation in extremely obese German children and adolescents. (9426388)
1997
48
Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. (9177239)
1997
49
Serum leptin levels during recombinant human GH therapy in adults with GH deficiency. (9437231)
1997
50
Low-dose growth hormone replacement lowers plasma leptin and fat stores without affecting body mass index in adults with growth hormone deficiency. (9039344)
1996

Genetic Variations for Leptin Deficiency

Expression for genes affiliated with Leptin Deficiency

Sources:
1BioGPS, 15Gene 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

Sources:
12EMD Millipore, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome
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Pathways related to Leptin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Leptin signaling via JAK/STAT and MAPK cascades
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9.8LEPR, LEP
29.5LEPR, LEP, NPY
3
Hide members
9.5CNTFR, LEPR
4
Development Prolactin receptor signaling
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9.4LEPR, LEP, GH1
58.8GH1, CNTFR, LEP, LEPR
6
Hide members
8.7CCK, NPY, GH1, LEP, LEPR
78.7LEP, CNTFR, GH1, PPARG

Compounds for genes affiliated with Leptin Deficiency

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
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Compounds related to Leptin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1estradiol45 11 2412.4LEPR
2norepinephrine45 11 2412.2CCK, NPY
3gnrh4510.1LEPR, GH1
4[met]enkephalin4510.0CCK, NPY
5enterostatin459.9NPY, LEP, CCK
6alpha msh459.9CCK, NPY, LEP
7fenfluramine29 45 1111.8LEP, CCK, NPY
8oxyntomodulin45 6010.8LEP, NPY, CCK
9sulpiride45 29 1111.8NPY, GH1, LEP
10dexamethasone45 50 29 1112.8CCK, GH1, LEPR
11sibutramine45 1110.7LEP, LSL, NPY
12lep (116-130) (mouse)609.7LEPR, LEP
13beta-hydroxybutyrate459.6LSL, GH1, LEP
14nash459.6LEPR, LEP, LSL
15acipimox45 2910.6LEP, GH1, LSL
16naloxone45 50 29 1112.4LEP, GH1, CCK
17sodium nitroprusside459.4NPY, GH1, LEP, CCK
18cocaine45 1110.4LEPR, CCK, NPY, LEP
19l-nmma459.4GH1, PPARG, CCK, LEP
20intralipid459.4LEP, CCK, LSL, GH1
21c-peptide459.3GH1, LSL, LEP, CCK
22fatty acid459.3LSL, PPARG, LEPR
23octreotide45 60 29 1112.3GH1, NPY, LSL, CCK
24pravastatin45 50 29 11 2413.3LSL, PPARG, LEP, IL18
25triiodothyronine459.3LEP, GH1, LSL, LEPR
26androstenedione45 2410.2LEPR, LEP, LSL, GH1
27carbohydrates459.2NPY, LSL, CCK, LEP
28prednisolone45 29 1111.2GH1, NPY, IL18, LSL
29metformin45 50 1111.2GH1, LEP, PPARG, LSL
30indomethacin45 60 29 1112.1NPY, LEP, GH1, PPARG, IL18
31epinephrine45 11 2411.0LEP, LSL, GH1, IL18, NPY
32corticosterone45 60 2411.0LEP, GH1, NPY, LSL, LEPR
33orlistat45 60 1111.0PPARG, CCK, LSL, LEP, NPY
34rosiglitazone45 50 29 11 2412.9GH1, LEP, PPARG, LSL, IL18
35glucose458.9PPARG, CCK, LSL, NPY, LEPR
36glycerol45 11 2410.9LEP, GH1, PPARG, CCK, LSL
37creatinine458.8LEP, NPY, GH1, IL18, LSL
38glutamine458.7PPARG, CCK, NPY, GH1, IL18, LEPR
39acth458.7NPY, CCK, LSL, GH1, LEP, LEPR
40methotrexate45 50 1110.7LSL, GH1, IL18, LEP
41acetylcholine45 50 29 11 2412.6LEP, NPY, CCK, GH1, CNTFR, IL18
42alanine458.6LSL, LEPR, NPY, PPARG, GH1
43thyroxine45 249.6NPY, PPARG, GH1, LEP, LEPR, LSL
44heparin45 29 11 2411.4LEP, LSL, NPY, GH1, FGF19
45vegf458.4LEP, IL18, GH1, PPARG, LSL, LEPR
46arginine458.3GH1, NPY, CCK, IL18, LEP, LEPR
47cholesterol45 29 11 2411.1LEP, LEPR, PPARG, IL18, CCK, FGF19
48retinoic acid45 249.1GH1, CNTFR, IL18, CCK, PPARG, NPY
49testosterone45 60 11 2410.9LSL, GH1, NPY, PPARG, CCK, LEPR
50lipid457.4LEP, GH1, PPARG, LEPR, IL18, FGF19

GO Terms for genes affiliated with Leptin Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Leptin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.8LEP, IL18, GH1, NPY, CCK
2extracellular regionGO:0055767.6LEPR, CCK, NPY, GH1, FGF19, IL18

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of appetiteGO:03209910.0LEP, CCK
2adult feeding behaviorGO:00834310.0LEP, NPY
3central nervous system neuron developmentGO:0219549.9LEP, NPY
4eating behaviorGO:0427559.7CCK, LEP
5response to coldGO:0094099.7IL18, PPARG
6regulation of blood pressureGO:0082179.6LEP, PPARG, NPY
7positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.5LEP, GH1
8positive regulation of cell proliferationGO:0082848.8CCK, CNTFR, FGF19, LEP

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

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.8NPY, CCK
2hormone activityGO:0051799.3LEP, GH1, CCK
3growth factor activityGO:0080839.0LEP, FGF19, GH1

Products for genes affiliated with Leptin Deficiency

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  • Proteins
  • Lysates
  • Antibodies

Sources for Leptin Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet