MCID: LPT006
MIFTS: 43

Leptin Receptor Deficiency malady

Endocrine, Metabolic categories

Summaries for Leptin Receptor Deficiency

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.

MalaCards: Leptin Receptor Deficiency, also known as obesity, morbid, due to leptin receptor deficiency, is related to leptin deficiency and complement receptor deficiency. An important gene associated with Leptin Receptor Deficiency is LEPR (leptin receptor), and among its related pathways are Alcoholism and Amphetamine addiction. The compounds ibzm and alpha-methyl-p-tyrosine have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and b cells, and related mouse phenotypes are taste/olfaction and other.

Wikipedia:64 Leptin receptor also known as LEP-R is a protein that in humans is encoded by the LEPR gene. LEP-R... more...

Description from OMIM:47 614963

Aliases & Classifications for Leptin Receptor Deficiency

Sources:
20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine, Metabolic


Aliases & Descriptions:

leptin receptor deficiency 20 22 21
obesity, morbid, due to leptin receptor deficiency 21 47
obesity due to leptin receptor gene deficiency 21 49
congenital deficiency of the leptin receptor 21
leptin receptor-related monogenic obesity 21
obesity, morbid, nonsyndromic 2 21


External Ids:

OMIM47 614963
ICD10 via Orphanet26 E66.8

Related Diseases for Leptin Receptor Deficiency

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1leptin deficiency10.6
2complement receptor deficiency10.4
3congenital leptin deficiency10.3
4protein s deficiency10.1
5protein r deficiency10.1
6autonomic dysfunction10.1
7bulimia nervosa10.0LEPR
8anorexia nervosa10.0LEPR
9progressive supranuclear palsy10.0SLC6A3
10heroin dependence10.0DRD2
11restless legs syndrome10.0DRD2
12nicotine dependence10.0DRD2
13eating disorder10.0SLC6A3, LEPR
14alcohol dependence10.0DRD2
15striatonigral degeneration10.0SLC6A3, DRD2
16personality disorder10.0SLC6A3, DRD2
17antisocial personality disorder10.0SLC6A3, DRD2
18pathological gambling10.0SLC6A3, DRD2
19drug addiction10.0DRD2, SLC6A3
20anxiety disorder10.0DRD2, SLC6A3
21movement disease10.0DRD2, SLC6A3
22substance dependence10.0SLC6A3, DRD2
23cocaine abuse10.0DRD2, SLC6A3
24gilles de la tourette syndrome10.0SLC6A3, DRD2
25cocaine dependence10.0DRD2, SLC6A3
26psychotic disorder10.0SLC6A3, DRD2
27substance abuse10.0SLC6A3, DRD2
28drug dependence10.0SLC6A3, DRD2
29conduct disorder10.0DRD2, SLC6A3
30alcohol abuse10.0SLC6A3, DRD2
31mood disorder10.0SLC6A3, DRD2
32wilson disease10.0DRD2, SLC6A3
33obsessive-compulsive disorder10.0SLC6A3, DRD2
34huntington's disease10.0SLC6A3, DRD2
35ovarian cancer10.0DRD2
36multiple system atrophy10.0DRD2, SLC6A3
37attention deficit hyperactivity disorder10.0SLC6A3, DRD2
38acromegaly10.0LEPR, DRD2
39schizophrenia10.0SLC6A3, DRD2
40pituitary tumors10.0LEPR, DRD2
41type 2 diabetes mellitus10.0DRD2, LEPR
42parkinson's disease10.0SLC6A3, DRD2
43obesity10.0DRD2, LEPR, SLC6A3

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



Diseases related to leptin receptor deficiency

Clinical Features for Leptin Receptor Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

614963

Drugs & Therapeutics for Leptin Receptor Deficiency

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

Search CenterWatch for Leptin Receptor Deficiency

Drug clinical trials:

Search ClinicalTrials for Leptin Receptor Deficiency

Search NIH Clinical Center for Leptin Receptor Deficiency

Search CenterWatch for Leptin Receptor Deficiency

Genetic Tests for Leptin Receptor Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Leptin Receptor Deficiency:

id Genetic test Affiliating Genes
1 Leptin Receptor Deficiency20 22 LEPR

Anatomical Context for Leptin Receptor Deficiency

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

33
Brain, Liver, B cells, Hypothalamus

Animal Models for Leptin Receptor Deficiency or affiliated genes

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

MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.3SLC6A3, DRD2
2MP:00053959.0LEPR, DRD2
3MP:00053698.6SLC6A3, LEPR, DRD2
4MP:00053798.6SLC6A3, LEPR, DRD2
5MP:00053908.5DRD2, LEPR, SLC6A3
6MP:00107718.4SLC6A3, LEPR, DRD2
7MP:00053898.2SLC6A3, LEPR, DRD2

Publications for Leptin Receptor Deficiency

Sources:
51PubMed
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Articles related to Leptin Receptor Deficiency:

(show all 17)
idTitleAuthorsYear
1
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
2
Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. (22194312)
2012
3
Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. (22523380)
2012
4
Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. (21285324)
2011
5
Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients. (21207066)
2011
6
The effect of leptin receptor deficiency and fasting on cannabinoid receptor 1 mRNA expression in the rat hypothalamus, brainstem and nodose ganglion. (19596404)
2009
7
Leptin receptor deficiency is associated with upregulation of cannabinoid 1 receptors in limbic brain regions. (18563836)
2008
8
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. (17229951)
2007
9
Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. (17603293)
2007
10
Leptin deficiency leads to the regulation of kinin receptors expression in mice. (17184856)
2007
11
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. (17003330)
2006
12
Indirect effects of leptin receptor deficiency on lymphocyte populations and immune response in db/db mice. (16920925)
2006
13
Increased lipopolysaccharide sensitivity in alcoholic fatty livers is independent of leptin deficiency and toll-like receptor 4 (TLR4) or TLR2 mRNA expression. (15976528)
2005
14
Recombinant methionyl human leptin administration activates signal transducer and activator of transcription 3 signaling in peripheral blood mononuclear cells in vivo and regulates soluble tumor necrosis factor-alpha receptor levels in humans with relative leptin deficiency. (15613409)
2005
15
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
16
Transgenic complementation of leptin-receptor deficiency. I. Rescue of the obesity/diabetes phenotype of LEPR-null mice expressing a LEPR-B transgene. (11272157)
2001
17
Serum leptin and body composition in children with familial GH deficiency (GHD) due to a mutation in the growth hormone-releasing hormone (GHRH) receptor. (10594516)
1999

Genetic Variations for Leptin Receptor Deficiency

Expression for genes affiliated with Leptin Receptor Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leptin Receptor Deficiency

Search GEO for disease gene expression data for Leptin Receptor Deficiency.

Pathways for genes affiliated with Leptin Receptor Deficiency

Sources:
30KEGG
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Pathways related to Leptin Receptor Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SLC6A3, DRD2
2
Hide members
9.1SLC6A3, DRD2

Compounds for genes affiliated with Leptin Receptor Deficiency

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Leptin Receptor Deficiency according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1ibzm459.6SLC6A3, DRD2
2alpha-methyl-p-tyrosine459.6DRD2, SLC6A3
3tetrabenazine45 29 60 50 1113.5DRD2, SLC6A3
4d amphetamine459.5SLC6A3, DRD2
5raclopride45 2910.5SLC6A3, DRD2
6piperazine45 1110.5DRD2, SLC6A3
7trimipramine50 45 1111.5DRD2, SLC6A3
8sulpiride45 29 1111.5DRD2, SLC6A3
9methylphenidate45 50 1111.5DRD2, SLC6A3
10reserpine45 29 1111.5SLC6A3, DRD2
11maoa459.5DRD2, SLC6A3
12pramipexole45 50 29 1112.5SLC6A3, DRD2
13phencyclidine45 29 1111.5DRD2, SLC6A3
14quinpirole45 2910.5DRD2, SLC6A3
15heroin45 50 1111.5SLC6A3, DRD2
16bupropion45 50 11 2412.5SLC6A3, DRD2
17ketamine45 29 1111.5DRD2, SLC6A3
18apomorphine45 29 1111.5SLC6A3, DRD2
19spec-t459.5SLC6A3, DRD2
20quetiapine45 50 29 11 2413.5DRD2, SLC6A3
21risperidone29 45 50 60 11 2414.4SLC6A3, DRD2
22bromocriptine29 45 1111.4SLC6A3, DRD2
23methamphetamine45 50 1111.4DRD2, SLC6A3
24fluoxetine50 45 29 1112.4DRD2, SLC6A3
256-hydroxydopamine459.4SLC6A3, DRD2
26amphetamine45 1110.4SLC6A3, DRD2
27mptp459.4SLC6A3, DRD2
28opiate459.4DRD2, SLC6A3
29levodopa45 1110.3DRD2, SLC6A3
30clozapine45 29 50 1112.3SLC6A3, DRD2
31haloperidol45 29 2 50 1113.2SLC6A3, DRD2
32choline45 11 2411.2SLC6A3, LEPR
33morphine45 50 29 1112.2DRD2, SLC6A3
345-hydroxytryptamine459.1SLC6A3, DRD2
35gaba459.1SLC6A3, DRD2
36olanzapine50 45 29 11 2412.9SLC6A3, LEPR, DRD2
37cocaine45 119.9SLC6A3, LEPR, DRD2
38dopamine45 29 11 2411.9DRD2, LEPR, SLC6A3
39nicotine45 50 29 1111.8SLC6A3, DRD2
40glutamate458.7SLC6A3, LEPR, DRD2

GO Terms for genes affiliated with Leptin Receptor Deficiency

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1SLC6A3, DRD2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1adenohypophysis developmentGO:0219849.3SLC6A3, DRD2
2response to iron ionGO:0100399.3SLC6A3, DRD2
3prepulse inhibitionGO:0601349.3SLC6A3, DRD2
4response to cocaineGO:0422209.2SLC6A3, DRD2
5response to nicotineGO:0350949.2DRD2, SLC6A3
6positive regulation of multicellular organism growthGO:0400189.1SLC6A3, DRD2
7response to drugGO:0424939.1SLC6A3, DRD2
8sensory perception of smellGO:0076089.0SLC6A3, DRD2
9locomotory behaviorGO:0076268.8SLC6A3, DRD2

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

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:0081449.1SLC6A3, DRD2
2dopamine bindingGO:0352408.8SLC6A3, DRD2

Products for genes affiliated with Leptin Receptor Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leptin Receptor 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