Leptin Receptor Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LEPRD MCID: LPT006 MIFTS: 40	Leptin Receptor Deficiency (LEPRD) Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Leptin Receptor Deficiency

MalaCards integrated aliases for Leptin Receptor Deficiency:

Name: Leptin Receptor Deficiency ⁵⁸ ²⁶ ⁷⁶ ³⁸ ³⁰ ⁶ ⁷⁴

Obesity, Morbid, Due to Leptin Receptor Deficiency ⁵⁸ ²⁶ ¹³

Obesity Due to Leptin Receptor Gene Deficiency ²⁶ ⁶⁰

Obesity, Morbid, Nonsyndromic 2 ⁵⁸ ²⁶

Morbid Obesity Due to Leptin Receptor Deficiency ⁷⁶

Congenital Deficiency of the Leptin Receptor ²⁶

Leptin Receptor-Related Monogenic Obesity ²⁶

Non-Syndromic Morbid Obesity 2 ⁷⁶

Deficiency, Leptin Receptor ⁴¹

Leptin Receptor ¹³

Leprd ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

obesity due to leptin receptor gene deficiency
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁶⁰

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

External Ids:

OMIM ⁵⁸ 614963

KEGG ³⁸ H02060

MeSH ⁴⁵ D009767

ICD10 via Orphanet ³⁵ E66.8

Orphanet ⁶⁰ ORPHA179494

MedGen ⁴³ C3554225 CN120495

UMLS ⁷⁴ C3554225

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Summaries for Leptin Receptor Deficiency

Genetics Home Reference : ²⁶ 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 body mass index quantitative trait locus 11 and obesity due to congenital leptin deficiency. An important gene associated with Leptin Receptor Deficiency is LEPR (Leptin Receptor), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Adipocytokine signaling pathway. The drugs Hormones and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include t cells, hypothalamus and ovary, and related phenotypes are obesity and decreased serum leptin

OMIM : ⁵⁸ Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018). (614963)

UniProtKB/Swiss-Prot : ⁷⁶ Leptin receptor deficiency: A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.

Wikipedia : ⁷⁷ Leptin receptor also known as LEP-R or OB-R is a Type I cytokine receptor, a protein that in humans is... more...

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Related Diseases for Leptin Receptor Deficiency

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

(show top 50) (show all 162)

#	Related Disease	Score	Top Affiliating Genes
1	body mass index quantitative trait locus 11	29.0	LEPR LEPROT
2	obesity due to congenital leptin deficiency	11.2
3	lung cancer	10.7
4	breast cancer	10.4
5	diabetes mellitus, noninsulin-dependent	10.2
6	retinoblastoma	10.2
7	polycystic ovary syndrome	10.1
8	leukemia	10.1
9	sleep apnea	10.1
10	body mass index quantitative trait locus 1	10.1
11	liver disease	10.1
12	nonalcoholic fatty liver disease	10.1
13	fatty liver disease	10.1
14	hepatocellular carcinoma	10.1
15	leukemia, acute lymphoblastic	10.1
16	lymphocytic leukemia	10.1
17	apnea, obstructive sleep	10.0
18	anorexia nervosa	10.0
19	growth hormone deficiency	10.0
20	hypertension, essential	10.0
21	ovarian cancer	10.0
22	scoliosis, isolated 1	10.0
23	insulin-like growth factor i	10.0
24	endometrial cancer	10.0
25	acute lymphoblastic leukemia, childhood	10.0
26	scoliosis	10.0
27	idiopathic scoliosis	10.0
28	pre-eclampsia	10.0
29	fatty liver disease, nonalcoholic 1	9.9
30	colorectal cancer	9.9
31	renal cell carcinoma, nonpapillary	9.9
32	pancreatic cancer	9.9
33	osteoarthritis	9.9
34	lymphoma	9.9
35	gestational diabetes	9.9
36	nephrotic syndrome	9.9
37	thyroid cancer	9.9
38	endometriosis	9.9
39	adenoma	9.9
40	rere-related disorders	9.9
41	multiple sclerosis	9.8
42	systemic lupus erythematosus	9.8
43	prostate cancer	9.8
44	rheumatoid arthritis	9.8
45	thyroid cancer, nonmedullary, 1	9.8
46	asthma	9.8
47	prostate cancer, hereditary, 8	9.8
48	body mass index quantitative trait locus 10	9.8
49	myocardial infarction	9.8
50	prostate cancer, hereditary, 6	9.8

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

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Symptoms & Phenotypes for Leptin Receptor Deficiency

Human phenotypes related to Leptin Receptor Deficiency:

⁶⁰ ³³ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	obesity ⁶⁰ ³³	obligate (100%)	Obligate (100%)	HP:0001513
2	decreased serum leptin ⁶⁰ ³³	obligate (100%)	Obligate (100%)	HP:0003292
3	aggressive behavior ³³	obligate (100%)		HP:0000718
4	abnormal hypothalamus morphology ³³	obligate (100%)		HP:0012286
5	primary amenorrhea ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000786
6	hyperinsulinemia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000842
7	hypergonadotropic hypogonadism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000815
8	absence of secondary sex characteristics ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008187
9	decreased testicular size ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008734
10	gynecomastia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000771
11	polyphagia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002591
12	decreased serum estradiol ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008214
13	decreased t cell activation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005419
14	decreased testosterone in males ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008230
15	hypoplasia of the ovary ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008724
16	decreased proportion of cd4-positive t cells ³³	hallmark (90%)		HP:0005407
17	emotional lability ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000712
18	hypertriglyceridemia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002155
19	recurrent upper respiratory tract infections ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002788
20	accelerated skeletal maturation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005616
21	insulin-resistant diabetes mellitus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000831
22	orthostatic hypotension due to autonomic dysfunction ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004926
23	pituitary hypothyroidism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008245
24	delayed puberty ³³			HP:0000823
25	decreased number of cd4+ t cells ⁶⁰		Very frequent (99-80%)
26	growth hormone deficiency ³³			HP:0000824
27	immune dysregulation ³³			HP:0002958

Clinical features from OMIM:

614963

MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue	MP:0005375	8.62	LEPR LEPROT

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Drugs & Therapeutics for Leptin Receptor Deficiency

Drugs for Leptin Receptor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Hormones		Phase 3,Phase 2
2	alpha-MSH		Phase 3,Phase 2		581-05-5
3	Hormone Antagonists		Phase 3,Phase 2
4	Hormones, Hormone Substitutes, and Hormone Antagonists		Phase 3,Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Setmelanotide for the Treatment of LEPR Deficiency Obesity	Recruiting	NCT03287960	Phase 3	setmelanotide;Placebo
2	Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity	Recruiting	NCT03013543	Phase 2, Phase 3	Setmelanotide

Search NIH Clinical Center for Leptin Receptor Deficiency

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Genetic Tests for Leptin Receptor Deficiency

Genetic tests related to Leptin Receptor Deficiency:

#	Genetic test	Affiliating Genes
1	Leptin Receptor Deficiency ³⁰	LEPR

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Anatomical Context for Leptin Receptor Deficiency

MalaCards organs/tissues related to Leptin Receptor Deficiency:

⁴²

T Cells, Hypothalamus, Ovary, Pituitary, Brain

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Publications for Leptin Receptor Deficiency

Articles related to Leptin Receptor Deficiency:

(show all 16)

#	Title	Authors	Year
1	Leptin receptor deficiency induces early, transient and hyperglycaemia-independent blood-brain barrier dysfunction. ( 30814586 )	Corem N...Ben-Zvi A	2019
2	MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency. ( 29736023 )	ClAcment K....KA1hnen P.	2018
3	Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. ( 29545012 )	Dehghani M.R....Maroofian R.	2018
4	Rodent models of leptin receptor deficiency are less sensitive to amylin. ( 30133304 )	Duffy S...Boyle CN	2018
5	Validity of leptin receptor-deficiency (db/db) type 2 diabetes mellitus mice as a model of secondary osteoporosis. ( 27283954 )	Huang L....Qin L.	2016
6	The daidzein- and estradiol- induced anorectic action in CCK or leptin receptor deficiency rats. ( 25765851 )	Fujitani M....Kishida T.	2015
7	Leptin receptor deficiency confers resistance to behavioral effects of fluoxetine and desipramine via separable substrates. ( 25463972 )	Guo M....Lu X.Y.	2014
8	Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. ( 22523380 )	Iannitti T....Dolan S.	2012
9	Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. ( 22194312 )	Gutierrez D.A....Hasty A.H.	2012
10	Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. ( 21285324 )	Luo N....Chua S.	2011
11	The effect of leptin receptor deficiency and fasting on cannabinoid receptor 1 mRNA expression in the rat hypothalamus, brainstem and nodose ganglion. ( 19596404 )	Jelsing J....Vrang N.	2009
12	Leptin receptor deficiency is associated with upregulation of cannabinoid 1 receptors in limbic brain regions. ( 18563836 )	Thanos P.K....Volkow N.D.	2008
13	Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. ( 17603293 )	Oh K.S....Lee C.M.	2007
14	Indirect effects of leptin receptor deficiency on lymphocyte populations and immune response in db/db mice. ( 16920925 )	Palmer G....Gabay C.	2006
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 )	Chua S.C....Guo X.E.	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 )	Kowalski T.J....Chua S.C.	2001

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Genes for Leptin Receptor Deficiency

Genes related to Leptin Receptor Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LEPR	Leptin Receptor	Protein Coding	1389.22	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Variants (show sections)	9537324
2	LEPROT	Leptin Receptor Overlapping Transcript	Protein Coding	8.31	GeneCards inferred via : Variants (show sections)

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Variations for Leptin Receptor Deficiency

ClinVar genetic disease variations for Leptin Receptor Deficiency:

⁶ (show top 50) (show all 72)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LEPR	NM_002303.5(LEPR): c.668A> G (p.Gln223Arg)	single nucleotide variant	Benign	rs1137101	GRCh37	Chromosome 1, 66058513: 66058513
2	LEPR	NM_002303.5(LEPR): c.668A> G (p.Gln223Arg)	single nucleotide variant	Benign	rs1137101	GRCh38	Chromosome 1, 65592830: 65592830
3	LEPR	LEPR, IVS16, G-A, +1	single nucleotide variant	Pathogenic
4	LEPR	NM_002303.5(LEPR): c.326A> G (p.Lys109Arg)	single nucleotide variant	Benign	rs1137100	GRCh37	Chromosome 1, 66036441: 66036441
5	LEPR	NM_002303.5(LEPR): c.326A> G (p.Lys109Arg)	single nucleotide variant	Benign	rs1137100	GRCh38	Chromosome 1, 65570758: 65570758
6	LEPR	NM_002303.5(LEPR): c.1968G> C (p.Lys656Asn)	single nucleotide variant	Benign/Likely benign	rs1805094	GRCh37	Chromosome 1, 66075952: 66075952
7	LEPR	NM_002303.5(LEPR): c.1968G> C (p.Lys656Asn)	single nucleotide variant	Benign/Likely benign	rs1805094	GRCh38	Chromosome 1, 65610269: 65610269
8	LEPR	NM_002303.5(LEPR): c.3417A> G (p.Ala1139=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61781316	GRCh37	Chromosome 1, 66102617: 66102617
9	LEPR	NM_002303.5(LEPR): c.3417A> G (p.Ala1139=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61781316	GRCh38	Chromosome 1, 65636934: 65636934
10	LEPR	NM_002303.5(LEPR): c.-161C> T	single nucleotide variant	Uncertain significance	rs372078226	GRCh38	Chromosome 1, 65420676: 65420676
11	LEPR	NM_002303.5(LEPR): c.-161C> T	single nucleotide variant	Uncertain significance	rs372078226	GRCh37	Chromosome 1, 65886359: 65886359
12	LEPR	NM_002303.5(LEPR): c.-120C> T	single nucleotide variant	Uncertain significance	rs189950527	GRCh38	Chromosome 1, 65420717: 65420717
13	LEPR	NM_002303.5(LEPR): c.-120C> T	single nucleotide variant	Uncertain significance	rs189950527	GRCh37	Chromosome 1, 65886400: 65886400
14	LEPR	NM_002303.5(LEPR): c.-20-15A> T	single nucleotide variant	Uncertain significance	rs116571599	GRCh38	Chromosome 1, 65565531: 65565531
15	LEPR	NM_002303.5(LEPR): c.-20-15A> T	single nucleotide variant	Uncertain significance	rs116571599	GRCh37	Chromosome 1, 66031214: 66031214
16	LEPR	NM_002303.5(LEPR): c.921G> C (p.Gln307His)	single nucleotide variant	Uncertain significance	rs531183918	GRCh38	Chromosome 1, 65598731: 65598731
17	LEPR	NM_002303.5(LEPR): c.921G> C (p.Gln307His)	single nucleotide variant	Uncertain significance	rs531183918	GRCh37	Chromosome 1, 66064414: 66064414
18	LEPR	NM_002303.5(LEPR): c.1246C> T (p.His416Tyr)	single nucleotide variant	Uncertain significance	rs144710810	GRCh38	Chromosome 1, 65601643: 65601643
19	LEPR	NM_002303.5(LEPR): c.1246C> T (p.His416Tyr)	single nucleotide variant	Uncertain significance	rs144710810	GRCh37	Chromosome 1, 66067326: 66067326
20	LEPR	NM_002303.5(LEPR): c.2103C> T (p.Phe701=)	single nucleotide variant	Uncertain significance	rs755504289	GRCh38	Chromosome 1, 65616115: 65616115
21	LEPR	NM_002303.5(LEPR): c.2103C> T (p.Phe701=)	single nucleotide variant	Uncertain significance	rs755504289	GRCh37	Chromosome 1, 66081798: 66081798
22	LEPR	NM_002303.5(LEPR): c.3078T> C (p.Asn1026=)	single nucleotide variant	Uncertain significance	rs34130975	GRCh38	Chromosome 1, 65636595: 65636595
23	LEPR	NM_002303.5(LEPR): c.3078T> C (p.Asn1026=)	single nucleotide variant	Uncertain significance	rs34130975	GRCh37	Chromosome 1, 66102278: 66102278
24	LEPR	NM_002303.5(LEPR): c.3479T> C (p.Met1160Thr)	single nucleotide variant	Uncertain significance	rs145685060	GRCh38	Chromosome 1, 65636996: 65636996
25	LEPR	NM_002303.5(LEPR): c.3479T> C (p.Met1160Thr)	single nucleotide variant	Uncertain significance	rs145685060	GRCh37	Chromosome 1, 66102679: 66102679
26	LEPR	NM_002303.5(LEPR): c.*112T> C	single nucleotide variant	Uncertain significance	rs886046506	GRCh38	Chromosome 1, 65637127: 65637127
27	LEPR	NM_002303.5(LEPR): c.*112T> C	single nucleotide variant	Uncertain significance	rs886046506	GRCh37	Chromosome 1, 66102810: 66102810
28	LEPR	NM_002303.5(LEPR): c.371A> G (p.Asp124Gly)	single nucleotide variant	Uncertain significance	rs35573508	GRCh38	Chromosome 1, 65572326: 65572326
29	LEPR	NM_002303.5(LEPR): c.371A> G (p.Asp124Gly)	single nucleotide variant	Uncertain significance	rs35573508	GRCh37	Chromosome 1, 66038009: 66038009
30	LEPR	NM_002303.5(LEPR): c.536G> A (p.Gly179Asp)	single nucleotide variant	Uncertain significance	rs151190195	GRCh38	Chromosome 1, 65592698: 65592698
31	LEPR	NM_002303.5(LEPR): c.536G> A (p.Gly179Asp)	single nucleotide variant	Uncertain significance	rs151190195	GRCh37	Chromosome 1, 66058381: 66058381
32	LEPR	NM_002303.5(LEPR): c.1166G> A (p.Ser389Asn)	single nucleotide variant	Uncertain significance	rs780534740	GRCh38	Chromosome 1, 65601563: 65601563
33	LEPR	NM_002303.5(LEPR): c.1166G> A (p.Ser389Asn)	single nucleotide variant	Uncertain significance	rs780534740	GRCh37	Chromosome 1, 66067246: 66067246
34	LEPR	NM_002303.5(LEPR): c.2698A> G (p.Ile900Val)	single nucleotide variant	Uncertain significance	rs142647085	GRCh38	Chromosome 1, 65636215: 65636215
35	LEPR	NM_002303.5(LEPR): c.2698A> G (p.Ile900Val)	single nucleotide variant	Uncertain significance	rs142647085	GRCh37	Chromosome 1, 66101898: 66101898
36	LEPR	NM_002303.5(LEPR): c.3019A> T (p.Ser1007Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145651189	GRCh38	Chromosome 1, 65636536: 65636536
37	LEPR	NM_002303.5(LEPR): c.3019A> T (p.Ser1007Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145651189	GRCh37	Chromosome 1, 66102219: 66102219
38	LEPR	NM_002303.5(LEPR): c.3114A> G (p.Ile1038Met)	single nucleotide variant	Uncertain significance	rs886046505	GRCh38	Chromosome 1, 65636631: 65636631
39	LEPR	NM_002303.5(LEPR): c.3114A> G (p.Ile1038Met)	single nucleotide variant	Uncertain significance	rs886046505	GRCh37	Chromosome 1, 66102314: 66102314
40	LEPR	NM_002303.5(LEPR): c.*188A> C	single nucleotide variant	Uncertain significance	rs886046507	GRCh38	Chromosome 1, 65637203: 65637203
41	LEPR	NM_002303.5(LEPR): c.*188A> C	single nucleotide variant	Uncertain significance	rs886046507	GRCh37	Chromosome 1, 66102886: 66102886
42	LEPR	NM_002303.5(LEPR): c.362_363delCA	deletion	Benign	rs10552268	GRCh38	Chromosome 1, 65637377: 65637378
43	LEPR	NM_002303.5(LEPR): c.362_363delCA	deletion	Benign	rs10552268	GRCh37	Chromosome 1, 66103060: 66103061
44	LEPR	NM_002303.5(LEPR): c.*403T> C	single nucleotide variant	Uncertain significance	rs375886561	GRCh38	Chromosome 1, 65637418: 65637418
45	LEPR	NM_002303.5(LEPR): c.*403T> C	single nucleotide variant	Uncertain significance	rs375886561	GRCh37	Chromosome 1, 66103101: 66103101
46	LEPR	NM_002303.5(LEPR): c.-122T> C	single nucleotide variant	Benign	rs3790435	GRCh38	Chromosome 1, 65420715: 65420715
47	LEPR	NM_002303.5(LEPR): c.-122T> C	single nucleotide variant	Benign	rs3790435	GRCh37	Chromosome 1, 65886398: 65886398
48	LEPR	NM_002303.5(LEPR): c.-92C> T	single nucleotide variant	Uncertain significance	rs13306523	GRCh38	Chromosome 1, 65425307: 65425307
49	LEPR	NM_002303.5(LEPR): c.-92C> T	single nucleotide variant	Uncertain significance	rs13306523	GRCh37	Chromosome 1, 65890990: 65890990
50	LEPR	NM_002303.5(LEPR): c.666C> G (p.Phe222Leu)	single nucleotide variant	Uncertain significance	rs886046503	GRCh38	Chromosome 1, 65592828: 65592828

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Expression for Leptin Receptor Deficiency

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

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Pathways for Leptin Receptor Deficiency

Pathways related to Leptin Receptor Deficiency according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Neuroactive ligand-receptor interaction	hsa04080
2	Adipocytokine signaling pathway	hsa04920
3	JAK-STAT signaling pathway	hsa04630
4	AMPK signaling pathway	hsa04152
5	Cytokine-cytokine receptor interaction	hsa04060

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GO Terms for Leptin Receptor Deficiency

Sources

Sources for Leptin Receptor Deficiency

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Leptin Receptor Deficiency (LEPRD)

Aliases & Classifications for Leptin Receptor Deficiency

MalaCards integrated aliases for Leptin Receptor Deficiency:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Leptin Receptor Deficiency

Related Diseases for Leptin Receptor Deficiency

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

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

Symptoms & Phenotypes for Leptin Receptor Deficiency

Human phenotypes related to Leptin Receptor Deficiency:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

Drugs & Therapeutics for Leptin Receptor Deficiency

Drugs for Leptin Receptor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Leptin Receptor Deficiency

Genetic tests related to Leptin Receptor Deficiency:

Anatomical Context for Leptin Receptor Deficiency

MalaCards organs/tissues related to Leptin Receptor Deficiency:

Publications for Leptin Receptor Deficiency

Articles related to Leptin Receptor Deficiency:

Genes for Leptin Receptor Deficiency

Genes related to Leptin Receptor Deficiency (1 elite genes):

Variations for Leptin Receptor Deficiency

ClinVar genetic disease variations for Leptin Receptor Deficiency:

Expression for Leptin Receptor Deficiency

Pathways for Leptin Receptor Deficiency

Pathways related to Leptin Receptor Deficiency according to KEGG:

GO Terms for Leptin Receptor Deficiency

Sources for Leptin Receptor Deficiency