MCID: LPT006
MIFTS: 29

Leptin Receptor Deficiency malady

Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases categories
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Summaries for Leptin Receptor Deficiency

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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 based summary: Leptin Receptor Deficiency, also known as obesity, morbid, due to leptin receptor deficiency, is related to obesity and hypertension, and has symptoms including An important gene associated with Leptin Receptor Deficiency is LEPR (leptin receptor). Affiliated tissues include brain and hypothalamus.

Wikipedia:65 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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Sources:
20GeneTests, 22GTR, 21Genetics Home Reference, 62UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Leptin Receptor Deficiency, Aliases & Descriptions:

Name: Leptin Receptor Deficiency 20 22 21 62
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


Classifications:



External Ids:

OMIM46 614963
ICD10 via Orphanet26 E66.8

Related Diseases for Leptin Receptor Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1obesity10.5
2hypertension10.1
3autonomic dysfunction10.1

Symptoms for Leptin Receptor Deficiency

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Clinical features from OMIM:

614963

HPO human phenotypes related to Leptin Receptor Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 aggressive behavior obligate (100%) HP:0000718
2 obesity obligate (100%) HP:0001513
3 abnormal hypothalamus morphology obligate (100%) HP:0012286
4 hypergonadotropic hypogonadism HP:0000815
5 delayed puberty HP:0000823
6 growth hormone deficiency HP:0000824
7 polyphagia HP:0002591
8 immune dysregulation HP:0002958
9 pituitary hypothyroidism HP:0008245

Drugs & Therapeutics for Leptin Receptor Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Leptin Receptor Deficiency

Genetic Tests for Leptin Receptor Deficiency

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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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MalaCards organs/tissues related to Leptin Receptor Deficiency:

32
Brain, Hypothalamus

Animal Models for Leptin Receptor Deficiency or affiliated genes

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Publications for Leptin Receptor Deficiency

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Articles related to Leptin Receptor Deficiency:

(show all 12)
idTitleAuthorsYear
1
Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. (22194312)
2012
2
Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. (22523380)
2012
3
Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. (21285324)
2011
4
Bromocriptine administration reduces hyperphagia and adiposity and differentially affects dopamine D2 receptor and transporter binding in leptin-receptor-deficient Zucker rats and rats with diet-induced obesity. (18984941)
2009
5
The effect of leptin receptor deficiency and fasting on cannabinoid receptor 1 mRNA expression in the rat hypothalamus, brainstem and nodose ganglion. (19596404)
2009
6
Diabetic hypertensive leptin receptor-deficient db/db mice develop cardioregulatory autonomic dysfunction. (19029483)
2009
7
Leptin receptor deficiency is associated with upregulation of cannabinoid 1 receptors in limbic brain regions. (18563836)
2008
8
Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. (17603293)
2007
9
Indirect effects of leptin receptor deficiency on lymphocyte populations and immune response in db/db mice. (16920925)
2006
10
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
11
Leptin receptor-deficient MMTV-TGF-alpha/Lepr(db)Lepr(db) female mice do not develop oncogene-induced mammary tumors. (14734797)
2004
12
Transgenic complementation of leptin-receptor deficiency. I. Rescue of the obesity/diabetes phenotype of LEPR-null mice expressing a LEPR-B transgene. (11272157)
2001

Variations for Leptin Receptor Deficiency

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Clinvar genetic disease variations for Leptin Receptor Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1LEPRLEPR, IVS16, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Leptin Receptor Deficiency

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Expression patterns in normal tissues for genes affiliated with Leptin Receptor Deficiency

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Pathways for genes affiliated with Leptin Receptor Deficiency

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Compounds for genes affiliated with Leptin Receptor Deficiency

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GO Terms for genes affiliated with Leptin Receptor Deficiency

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Products for genes affiliated with Leptin Receptor Deficiency

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet