Leptin Deficiency malady

MalaCards: Leptin Deficiency, also known as obesity, severe, due to leptin deficiency, is related to insulin resistance and obesity, association with. An important gene associated with Leptin Deficiency is LEP (leptin), and among its related pathways are Adipocytokine signaling pathway and Jak-STAT signaling pathway. The drugs mazindol and phentermine and the compounds lep (116-130) (mouse) and sibutramine have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and t cells, and related mouse phenotypes are liver/biliary system and nervous system.

leptin deficiency 16 obesity, severe, due to leptin deficiency 16 33

malnutrition 43 obesity 43

Diseases related to leptin deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 635)

id	Related Disease	Score	Top Affiliating Genes
1	insulin resistance	33.4	LEP, LEPR, FGF19, IL18, CCK, GH1
2	obesity, association with	32.9	LEP, LEPR, GH1, PPARG, NPY
3	protein-energy malnutrition	32.8	LEP, CCK, LSL
4	type 2 diabetes mellitus	32.3	LEP, LEPR, CCK, PPARG, LSL
5	hypertension	32.3	LEP, LEPR, IL18, GH1, PPARG, LSL
6	fatty liver disease	32.1	LEP, LEPR, PPARG, LSL
7	acanthosis nigricans	32.0	LEP, GH1
8	sleep apnea	31.5	LEP, LSL, NPY
9	hyperandrogenism	31.2	LEP, GH1, PPARG, LSL
10	gestational diabetes	30.8	LEP, LEPR, LSL
11	polycystic ovary syndrome	30.8	LEP, LEPR, IL18, CCK, GH1, PPARG
12	hyperlipidemia	30.2	LEP, LEPR, PPARG, LSL
13	bardet-biedl syndrome	30.1	LEP, LEPR, LSL
14	hypertriglyceridemia	29.7	LEP, IL18, PPARG, LSL
15	twinning	29.6	LEP, LEPR, GH1, PPARG, LSL
16	essential hypertension	29.5	LEP, LEPR, PPARG, NPY
17	nonalcoholic steatohepatitis	29.4	LEP, LEPR, PPARG, LSL
18	bulimia nervosa	29.3	LEP, CCK, LSL
19	hypothyroidism	29.2	LEP, LSL
20	cushing's syndrome	29.2	LEP, GH1, LSL, NPY
21	leptin receptor deficiency	29.1	LEP, LEPR
22	metabolic syndrome x	29.1	LEP, PPARG, LSL
23	atherosclerosis	29.0	LEP, LEPR, FGF19, IL18, GH1, PPARG
24	eating disorder	28.9	LEP, LEPR, CCK, LSL, NPY
25	hepatitis	28.9	CNTFR, LEP, LEPR, FGF19, IL18, CCK
26	cholesterol	28.8	LEP, LEPR, FGF19, IL18, CCK, GH1
27	asthma	28.7	LEP, LEPR, IL18, PPARG, LSL
28	glucose intolerance	28.6	LEP, LEPR, GH1, PPARG, LSL, NPY
29	prader-willi syndrome	28.4	LEP, LEPR, IL18, CCK, GH1, LSL
30	apnea	28.4	LEP, LEPR, IL18, GH1, PPARG, LSL
31	sleep disorder	28.3	LEP, LSL, NPY
32	coronary heart disease	28.2	LEP, LEPR, IL18, PPARG, LSL, NPY
33	laron syndrome	28.1	GH1, LSL
34	thrombosis	28.1	LEP, LEPR, IL18, PPARG
35	breast cancer	28.1	LEP, LEPR, IL18, CCK, GH1, PPARG
36	blindness	28.0	LEP, IL18, CCK, GH1, PPARG, LSL
37	hypogonadism	28.0	LEP, LEPR, GH1, LSL
38	anorexia nervosa	27.9	LEP, LEPR, FGF19, CCK, GH1, PPARG
39	21-hydroxylase deficiency	27.8	LEP, GH1, LSL
40	hyperinsulinism	27.8	LEP, LEPR, GH1, PPARG, LSL, NPY
41	myocardial infarction	27.6	LEP, IL18, GH1, PPARG, LSL, NPY
42	diabetes, type 2	27.6	IL18, PPARG
43	type 1 diabetes mellitus	27.5	LEP, LEPR, IL18, GH1, LSL
44	growth hormone deficiency	27.5	LEP, LEPR, GH1, LSL
45	prostatitis	27.4	LEP, LEPR, IL18, CCK, GH1, PPARG
46	marasmus	27.3	GH1, LSL
47	fibrosis	27.3	LEP, LEPR, IL18, CCK, GH1, PPARG
48	aldosteronism	27.1	CCK, GH1, PPARG, NPY
49	hepatitis c	27.0	LEP, LEPR, IL18, GH1, PPARG, LSL
50	adrenal hyperplasia	26.9	LEP, GH1, LSL

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 benzphetamine, benzphetamine hydrochloride, dexfenfluramine, dexfenfluramine hydrochloride, diethylpropion, diethylpropion hydrochloride, fenfluramine, fenfluramine hydrochloride, mazindol, orlistat, phendimetrazine, phendimetrazine hydrochloride, phendimetrazine tartrate, phenmetrazine, phenmetrazine hydrochloride, phentermine, phentermine hydrochloride, phentermine resin complex, phenylpropanolamine, phenylpropanolamine hydrochloride, sibutramine, sibutramine hydrochloride

Genetic tests related to leptin deficiency:

id	Genetic test	Affiliating Genes
1	Leptin Deficiency clinical/research	LEP

MalaCards organs/tissues related to leptin deficiency:

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MGI Mouse Phenotypes related to leptin deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	10.0	GH1
2	nervous system phenotype	MP:0003631	8.8	CNTFR, NPY, CCK
3	adipose tissue phenotype	MP:0005375	7.4	IL18, NPY, PPARG, LEP, LEPR, GH1

Articles related to leptin deficiency:

(show all 30)

id	Title	Authors	Year	Affiliating Genes
1	Congenital leptin deficiency and thyroid function. (19889232)	Paz-Filho G.... Licinio J.	2009	LEP
2	Effects of leptin replacement on risk factors for cardiovascular disease in genetically leptin-deficient subjects. (18726825)	Paz-Filho G.J.... Licinio J.	2009	LEP
3	AdPLA ablation increases lipolysis and prevents obesi ty induced by high-fat feeding or leptin deficiency. (19136964)	Jaworski K.... Sul H.S.	2009	PLA2G16
4	Leptin deficiency: clinical implications and opportun ities for therapeutic interventions. (19730134)	BlA1her S.... Mantzoros C.S.	2009	LEP
5	Osteoarthitis of leptin-deficient ob/ob mice in response to biomechanical loading in micro-CT. (19343112)	Heep H.... Wedemeyer C.	2009	LEP
6	Changes in insulin sensitivity during leptin replacement therapy in leptin-deficient patients. (18854428)	Paz-Filho G.... Licinio J.	2008	LEP
7	Differences in trabecular bone of leptin-deficient ob/ob mice in response to biomechanical loading. (18566694)	Heep H.... von Knoch M.	2008	LEP
8	Leptin does not mediate short-term fasting-induced changes in growth hormone pulsatility but increases IGF-I in leptin deficiency states. (18445667)	Chan J.L.... Mantzoros C.S.	2008	LEP
9	Interleukin-18, together with interleukin-12, induces severe acute pancreatitis in obese but not in nonobese leptin-deficient mice. (18515422)	Sennello J.A.... Fantuzzi G.	2008	IL18
10	Leptin replacement alters brain response to food cues in genetically leptin-deficient adults. (17986612)	Baicy K.... Licinio J.	2007	LEP
11	Activation of the cardiac ciliary neurotrophic factor receptor reverses left ventricular hypertrophy in leptin-deficient and leptin-resistant obesity. (16537512)	Raju S.V.... Hare J.M.	2006	CNTFR
12	Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. (17003330)	Gray S.L.... Vidal-Puig A.	2006	PPARG
13	Loss of resistin improves glucose homeostasis in leptin deficiency. (17065346)	Qi Y.... Ahima R.S.	2006	LEP
14	Effect of leptin replacement on brain structure in genetically leptin-deficient adults. (15713712)	Matochik J.A.... Licinio J.	2005	LEP
15	Recombinant methionyl human leptin administration act ivates signal transducer and activator of transcription 3 signaling in peripher al blood mononuclear cells in vivo and regulates soluble tumor necrosis factor- alpha receptor levels in humans with relative leptin deficiency. (15613409)	Chan J.L.... Mantzoros C.S.	2005	LEP
16	Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. (15070752)	Licinio J.... Wong M.L.	2004	LEP
17	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)	Gibson W.T.... Trussell R.A.	2004	LEP
18	Fibroblast growth factor 19 increases metabolic rate and reverses dietary and leptin-deficient diabetes. (14976145)	Fu L.... Stewart T.A.	2004	FGF19
19	Role of leptin deficiency in early acute renal failure during endotoxemia in ob/ob mice. (14978166)	Wang W.... Schrier R.	2004	LEP, LEPR
20	Leptin-deficient mice are protected from accelerated nephrotoxic nephritis. (14742244)	Tarzi R.M.... Lord G.M.	2004	LEP
21	The inhibition of growth hormone secretion presented in obesity is not mediated by the high leptin levels: a study in human leptin deficiency patients. (12519870)	Ozata M.... Casanueva F.F.	2003	LEP, GH1
22	Decreased gallbladder response in leptin-deficient obese mice. (12022998)	Goldblatt M.I.... Pitt H.A.	2002	LEP, NPY, CCK
23	Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. (12393845)	Farooqi I.S.... O'Rahilly S.	2002	LEP
24	Synchronicity of frequently sampled thyrotropin (TSH) and leptin concentrations in healthy adults and leptin-deficient subjects: evidence for possible partial TSH regulation by leptin in humans. (11443202)	Mantzoros C.S.... Licinio J.	2001	LEP
25	A cutaneous gene therapy approach to human leptin deficiencies: correction of the murine ob/ob phenotype using leptin-targeted keratinocyte grafts. (11427484)	Larcher F.... Jorcano J.L.	2001	LEP
26	Leptin deficiency due to lipid apheresis: a possible reason for ravenous hunger and weight gain. (10702780)	Leitner G.C.... Wascher T.C.	2000	LEP, LSL
27	Serum leptin levels in healthy ageing men: are decreased serum testosterone and increased adiposity in elderly men the consequence of leptin deficiency? (10468969)	Van Den Saffele J.K.... Kaufman J.M.	1999	LEP, LSL
28	Obesity in the Prader-Labhart-Willi syndrome is not due to leptin deficiency but is accentuated by hypogonadism in male patients. (10619990)	Wallace A.M.... Donaldson M.D.	1999	LEP
29	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)	Ozata M.... Licinio J.	1999	LEP
30	Congenital leptin deficiency is associated with severe early-onset obesity in humans. (9202122)	Montague C.T.... O'Rahilly S.	1997	LEP

Genes related to leptin deficiency according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	LEP	leptin	11.0	Publications
2	FGF19	fibroblast growth factor 19	11.0	Publications
3	PLA2G16	phospholipase A2, group XVI	11.0	Publications
4	CNTFR	ciliary neurotrophic factor receptor	11.0	Publications
5	LSL	Leptin, serum levels of	11.0	Publications
6	NPY	neuropeptide Y	11.0	Publications
7	PPARG	peroxisome proliferator-activated receptor gamma	11.0	Publications
8	LEPR	leptin receptor	11.0	Publications
9	CCK	cholecystokinin	11.0	Publications
10	IL18	interleukin 18 (interferon-gamma-inducing factor)	11.0	Publications
11	GH1	growth hormone 1	11.0	Publications

Pathways related to leptin deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Adipocytokine signaling pathway20	9.3	LEPR, LEP, NPY
2	Jak-STAT signaling pathway20	8.5	CNTFR, GH1, LEPR, LEP
3	Cytokine-cytokine receptor interaction20	7.9	GH1, IL18, LEPR, LEP, CNTFR

Compounds related to leptin deficiency according to GeneDecks:

(show top 50)    (show all 88)

id	Compound	Score	Top Affiliating Genes
1	lep (116-130) (mouse)42	9.9	LEP, LEPR
2	sibutramine32 9 9	11.8	LSL, LEP, NPY
3	[met]enkephalin32	9.7	CCK, NPY
4	beta-hydroxybutyrate32	9.7	LEP, GH1, LSL
5	acipimox32	9.6	LEP, GH1, LSL
6	carbohydrates32	9.6	NPY, CCK
7	nash32	9.6	LSL, LEPR, LEP
8	sulpiride32 9 9	11.6	NPY, LEP, GH1
9	enterostatin32 42	10.6	NPY, LEP, CCK
10	alpha msh32	9.5	LEP, CCK, NPY
11	fenfluramine32 9 9	11.5	NPY, LEP, CCK
12	oxyntomodulin32 42	10.5	NPY, CCK, LEP
13	estradiol32 9 18 9	12.4	LEPR, IL18
14	metformin32 34 9 9	12.2	GH1, LEP, LSL, PPARG
15	triiodothyronine32	9.1	GH1, LEP, LEPR, LSL
16	androstenedione32 18	10.1	LSL, LEPR, LEP, GH1
17	intralipid32	9.1	LEP, CCK, GH1, LSL
18	testosterone32 9 18 9	12.1	CCK, IL18, LSL
19	c-peptide32	9.1	GH1, CCK, LSL, LEP
20	l-nmma32	9.0	LEP, GH1, CCK, PPARG
21	octreotide32 42 9 9	12.0	NPY, CCK, GH1, LSL
22	naloxone32 34 9 9	11.9	GH1, CCK, LEP
23	sodium nitroprusside32	8.9	GH1, CCK, LEP, NPY
24	pravastatin32 34 9 18 9	12.9	LEP, LSL, PPARG, IL18
25	cocaine32 9 9	10.9	CCK, NPY, LEP, LEPR
26	corticosterone32 18	9.8	LSL, NPY, GH1, LEP, LEPR
27	orlistat32 42 9 9	11.8	LEP, CCK, LSL, PPARG, NPY
28	gnrh32	8.8	NPY, LEP, LEPR, GH1, LSL
29	prednisolone32 9 9	10.6	NPY, IL18, LSL, GH1
30	glycerol32 9 18 9	11.6	LSL, CCK, LEP, PPARG, GH1
31	heparin32 9 18 9	11.6	GH1, LSL, FGF19, NPY, LEP
32	alanine32	8.5	LEPR, IL18, LSL, NPY
33	methotrexate32 34 42 9 9	12.5	LEP, IL18, GH1, LSL
34	rosiglitazone32 9 18 9	11.5	IL18, LSL, PPARG, GH1, LEP
35	fatty acid32	8.4	LSL, PPARG, LEP, LEPR, GH1
36	epinephrine32 9 18 9	11.4	LEP, GH1, IL18, NPY, LSL
37	thyroxine32 18	9.4	LSL, GH1, PPARG, LEPR, LEP, NPY
38	indomethacin32 9 9	10.3	NPY, PPARG, GH1, LEP, IL18
39	acth32	8.2	GH1, CCK, NPY, LSL, LEP, LEPR
40	creatinine32	8.1	LSL, NPY, IL18, LEP, GH1
41	acetylcholine32 9 18 9	10.9	NPY, CCK, GH1, IL18, CNTFR, LEP
42	norepinephrine32 9 18 9	10.9	IL18, CCK, NPY, GH1, LSL, LEP
43	vegf32	7.7	LSL, LEPR, IL18, GH1, LEP, PPARG
44	glutamine32	7.5	IL18, NPY, PPARG, LEPR, GH1, CCK
45	cholesterol32 9 18 9	10.5	LEP, LEPR, FGF19, IL18, CCK, PPARG
46	estrogen32	7.5	NPY, LSL, GH1, IL18, LEPR, PPARG
47	arginine32	7.3	NPY, LSL, GH1, CCK, IL18, LEP
48	dexamethasone32 42 34 9 9	11.3	CCK, IL18, LEPR, LSL, LEP, PPARG
49	lipid32	7.3	GH1, LEP, IL18, PPARG, CNTFR, LSL
50	retinoic acid32 42 18	9.0	CNTFR, NPY, IL18, CCK, GH1, PPARG

Cellular components related to leptin deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	7.8	LEP, IL18, CCK, GH1, NPY
2	extracellular region	GO:005576	6.7	LEP, NPY, GH1, CCK, IL18, FGF19

Biological processes related to leptin deficiency according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	adult feeding behavior	GO:008343	9.9	LEP, NPY
2	central nervous system neuron development	GO:021954	9.9	LEP, NPY
3	negative regulation of appetite	GO:032099	9.7	LEP, CCK
4	placenta development	GO:001890	9.6	LEP, PPARG
5	eating behavior	GO:042755	9.6	LEP, CCK
6	positive regulation of tyrosine phosphorylation of Stat3 protein	GO:042517	9.4	LEP, GH1
7	response to cold	GO:009409	9.2	IL18, PPARG
8	positive regulation of cell proliferation	GO:008284	9.0	CNTFR, LEP, FGF19, CCK

Molecular functions related to leptin deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:008083	9.4	LEP, FGF19, GH1
2	neuropeptide hormone activity	GO:005184	9.1	CCK, NPY
3	hormone activity	GO:005179	8.9	LEP, CCK, GH1