MCID: LPT006
MIFTS: 41

Leptin Receptor Deficiency malady

Endocrine diseases, Metabolic diseases categories

Summaries for Leptin Receptor Deficiency

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 obesity and complement 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. Related mouse phenotypes are taste/olfaction and other.

Wikipedia:63 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:46 614963

Aliases & Classifications for Leptin Receptor Deficiency

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20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

leptin receptor deficiency 20 22 21
obesity, morbid, due to leptin receptor deficiency 21 46
obesity due to leptin receptor gene deficiency 21 48
congenital deficiency of the leptin receptor 21
leptin receptor-related monogenic obesity 21
obesity, morbid, nonsyndromic 2 21


External Ids:

OMIM46 614963
ICD10 via Orphanet26 E66.8

Related Diseases for Leptin Receptor Deficiency

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1obesity30.6DRD2, LEPR, SLC6A3
2complement deficiency10.2
3hypertension10.1
4bulimia nervosa10.0LEPR
5anorexia nervosa10.0LEPR
6progressive supranuclear palsy10.0SLC6A3
7heroin dependence10.0DRD2
8restless legs syndrome10.0DRD2
9nicotine dependence10.0DRD2
10eating disorder10.0SLC6A3, LEPR
11alcohol dependence10.0DRD2
12striatonigral degeneration10.0SLC6A3, DRD2
13personality disorder10.0SLC6A3, DRD2
14antisocial personality disorder10.0SLC6A3, DRD2
15pathological gambling10.0SLC6A3, DRD2
16drug addiction10.0DRD2, SLC6A3
17anxiety disorder10.0DRD2, SLC6A3
18movement disease10.0DRD2, SLC6A3
19substance dependence10.0SLC6A3, DRD2
20cocaine abuse10.0DRD2, SLC6A3
21gilles de la tourette syndrome10.0SLC6A3, DRD2
22cocaine dependence10.0DRD2, SLC6A3
23psychotic disorder10.0SLC6A3, DRD2
24substance abuse10.0SLC6A3, DRD2
25drug dependence10.0SLC6A3, DRD2
26conduct disorder10.0DRD2, SLC6A3
27alcohol abuse10.0SLC6A3, DRD2
28mood disorder10.0SLC6A3, DRD2
29wilson disease10.0DRD2, SLC6A3
30obsessive-compulsive disorder10.0SLC6A3, DRD2
31huntington's disease10.0SLC6A3, DRD2
32ovarian cancer10.0DRD2
33multiple system atrophy10.0DRD2, SLC6A3
34attention deficit hyperactivity disorder10.0SLC6A3, DRD2
35acromegaly10.0LEPR, DRD2
36schizophrenia10.0SLC6A3, DRD2
37pituitary tumors10.0LEPR, DRD2
38type 2 diabetes mellitus10.0DRD2, LEPR
39parkinson's disease10.0SLC6A3, DRD2

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



Diseases related to leptin receptor deficiency

Clinical Features for Leptin Receptor Deficiency

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46OMIM
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Clinical features from OMIM:

614963

Drugs & Therapeutics for Leptin Receptor Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Leptin Receptor Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Leptin Receptor Deficiency

Search CenterWatch for Leptin Receptor Deficiency

Genetic Tests for Leptin Receptor Deficiency

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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

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Animal Models for Leptin Receptor Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

36
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

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Genetic Variations for Leptin Receptor Deficiency

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Expression for genes affiliated with Leptin Receptor Deficiency

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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

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29KEGG
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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

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Leptin Receptor Deficiency according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1ibzm449.6SLC6A3, DRD2
2alpha-methyl-p-tyrosine449.6DRD2, SLC6A3
3tetrabenazine44 28 59 49 1113.5DRD2, SLC6A3
4d amphetamine449.5SLC6A3, DRD2
5raclopride44 2810.5SLC6A3, DRD2
6piperazine44 1110.5DRD2, SLC6A3
7trimipramine49 44 1111.5DRD2, SLC6A3
8sulpiride44 28 1111.5DRD2, SLC6A3
9methylphenidate44 49 1111.5DRD2, SLC6A3
10reserpine44 28 1111.5SLC6A3, DRD2
11maoa449.5DRD2, SLC6A3
12pramipexole44 49 28 1112.5SLC6A3, DRD2
13phencyclidine44 28 1111.5DRD2, SLC6A3
14quinpirole44 2810.5DRD2, SLC6A3
15heroin44 49 1111.5SLC6A3, DRD2
16bupropion44 49 11 2412.5SLC6A3, DRD2
17ketamine44 28 1111.5DRD2, SLC6A3
18apomorphine44 28 1111.5SLC6A3, DRD2
19spec-t449.5SLC6A3, DRD2
20quetiapine44 49 28 11 2413.5DRD2, SLC6A3
21risperidone28 44 49 59 11 2414.4SLC6A3, DRD2
22bromocriptine28 44 1111.4SLC6A3, DRD2
23methamphetamine44 49 1111.4DRD2, SLC6A3
24fluoxetine49 44 28 1112.4DRD2, SLC6A3
256-hydroxydopamine449.4SLC6A3, DRD2
26amphetamine44 1110.4SLC6A3, DRD2
27mptp449.4SLC6A3, DRD2
28opiate449.4DRD2, SLC6A3
29levodopa44 1110.3DRD2, SLC6A3
30clozapine44 28 49 1112.3SLC6A3, DRD2
31haloperidol44 28 2 49 1113.2SLC6A3, DRD2
32choline44 11 2411.2SLC6A3, LEPR
33morphine44 49 28 1112.2DRD2, SLC6A3
345-hydroxytryptamine449.1SLC6A3, DRD2
35gaba449.1SLC6A3, DRD2
36olanzapine49 44 28 11 2412.9SLC6A3, LEPR, DRD2
37cocaine44 119.9SLC6A3, LEPR, DRD2
38dopamine44 28 11 2411.9DRD2, LEPR, SLC6A3
39nicotine44 49 28 1111.8SLC6A3, DRD2
40glutamate448.7SLC6A3, LEPR, DRD2

GO Terms for genes affiliated with Leptin Receptor Deficiency

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leptin Receptor 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet