MCID: OBS029
MIFTS: 50

Obesity, Association with malady

Metabolic diseases, Endocrine diseases categories

Summaries for Obesity, Association with

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46OMIM, 32MalaCards
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MalaCards: Obesity, Association with, also known as obesity due to melanocortin 4 receptor deficiency, is related to obesity and morbid obesity. An important gene associated with Obesity, Association with is SDC3 (syndecan 3), and among its related pathways are Signaling by GPCR and Class A/1 (Rhodopsin-like receptors). The compounds glucose and lipid have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and adipose tissue.

Description from OMIM:46 601665

Aliases & Classifications for Obesity, Association with

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46OMIM, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
obesity due to melanocortin 4 receptor deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

obesity, association with 46
obesity due to melanocortin 4 receptor deficiency 48
mc4r deficiency 48


External Ids:

OMIM46 601665
ICD10 via Orphanet26 E66.8
ICD1025 E66, E66.0, E66.9

Related Diseases for Obesity, Association with

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17GeneCards, 18GeneDecks
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Diseases related to Obesity, Association with via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1obesity31.0UCP3, MC4R, PPARG
2morbid obesity30.2MC4R, HCRT, MC3R, LEP, RETN
3diabetes mellitus29.9NAMPT, RETN, GIP, LEP, PPARG, RBP4
4type 2 diabetes mellitus29.9LEP, RETN, MC4R, GIP, LIPE, RBP4
5glucose intolerance29.9RETN, LIPE, RBP4, LEP, PPARG
6eating disorder29.9LEP
7hypertension29.9PPARG, LEP, RETN
8attention deficit hyperactivity disorder10.2
9insulin resistance10.0LIPE, RBP4, GIP, MC4R, MC3R, PNPLA2
10anorexia nervosa10.0RETN, MC3R, MC4R, HCRT, LEP
11hyperinsulinism10.0MC4R, PPARG, GIP, RETN, LEP
12polycystic ovary syndrome10.0RETN, PPARG, RBP4, LIPE, NAMPT, LEP
13familial hyperlipidemia10.0PPARG, LEP, UCP3, NAMPT, RETN, LIPE
14hyperandrogenism10.0RETN, LEP, MC4R, PPARG
15atherosclerosis10.0PPARG, RETN, UCP3, APLN, LIPE, RBP4
16lipodystrophy10.0LIPE, RETN, LEP, PPARG
17hyperglycemia10.0RETN, GIP, PPARG, NAMPT, LEP
18gestational diabetes10.0NAMPT, RBP4, LEP, RETN
19acromegaly10.0LEP, RETN
20familial combined hyperlipidemia10.0LIPE
21coronary heart disease10.0LEP, RETN, LIPE
22fatty liver disease10.0PPARG, RBP4, RETN, LEP
23hypercholesterolemia10.0RETN, RBP4
24myocardial infarction10.0RETN
25growth hormone deficiency10.0LEP
26liver cirrhosis10.0RETN, RBP4, LEP
27primary hyperoxaluria10.0PPARG, LEP, NAMPT, RETN, RBP4
28acquired generalized lipodystrophy10.0RETN, LEP
29hypertriglyceridemia10.0PPARG, LEP
30hyperthyroidism10.0RETN, LEP
31cushing's syndrome10.0GIP, RETN, LEP
32coronary artery disease10.0RETN, APLN, PPARG, NAMPT
33bulimia nervosa10.0MC4R, LEP
34familial partial lipodystrophy10.0PPARG, LEP
35galactosemia10.0RBP4, LEP, PPARG, RETN
36congenital generalized lipodystrophy type 210.0LEP, PPARG
37hypothyroidism10.0LEP, RETN
38acute myocardial infarction10.0RETN
39congenital heart defect10.0RETN, PPARG, LEP
40metabolic syndrome x10.0PPARG, LEP
41bardet-biedl syndrome10.0
42alstrom syndrome10.0
43cerebritis10.0
44seasonal affective disorder10.0
45cerebral palsy10.0
46craniopharyngioma10.0

Graphical network of the top 20 diseases related to Obesity, Association with:



Diseases related to obesity, association with

Clinical Features for Obesity, Association with

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46OMIM
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Clinical features from OMIM:

601665

Clinical synopsis from OMIM:

601665

Drugs & Therapeutics for Obesity, Association with

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

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Drug clinical trials:

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Genetic Tests for Obesity, Association with

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Anatomical Context for Obesity, Association with

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Animal Models for Obesity, Association with or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Obesity, Association with:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.8SDC3, UCP3, APLN, PPARG, RBP4, LIPE
2MP:000537510.7UCP3, PPARG, LIPE, FTO, MC4R, MC3R
3MP:000537810.7HCRT, LIPE, PPARG, APLN, UCP3, GIP
4MP:000538610.6APLN, PPARG, LIPE, HCRT, FTO, MC5R
5MP:000538510.6APLN, PPARG, RBP4, LIPE, HCRT, MC4R
6MP:000537010.5PNPLA2, LEP, RETN, MC4R, LIPE, PPARG
7MP:000536910.4APLN, PPARG, RBP4, LIPE, HCRT, LEP
8MP:000537910.2PPARG, RBP4, LIPE, MC5R, NAMPT, LEP

Publications for Obesity, Association with

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Genetic Variations for Obesity, Association with

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Obesity, Association with:

62 (show all 30)
id Symbol AA change Variation ID SNP ID
1MC4Rp.Ser30ArgVAR_010704
2MC4Rp.Asp37ValVAR_010705rs13447325
3MC4Rp.Pro78LeuVAR_010706rs13447326
4MC4Rp.Arg165TrpVAR_010709rs13447332
5MC4Rp.Gly252SerVAR_010711rs13447336
6MC4Rp.Ile317ThrVAR_010712rs13447337
7MC4Rp.Asn274SerVAR_015357
8MC4Rp.Thr11AlaVAR_038632
9MC4Rp.Ser36TyrVAR_038633
10MC4Rp.Val50MetVAR_038634
11MC4Rp.Ser58CysVAR_038635
12MC4Rp.Asn62SerVAR_038636
13MC4Rp.Asn97AspVAR_038638
14MC4Rp.Ile102SerVAR_038639
15MC4Rp.Ile102ThrVAR_038640
16MC4Rp.Leu106ProVAR_038641
17MC4Rp.Ile125LysVAR_038642
18MC4Rp.Ser127LeuVAR_038643rs13447331
19MC4Rp.Arg165GlnVAR_038644rs13447332
20MC4Rp.Ile170ValVAR_038645rs121913560
21MC4Rp.Ala175ThrVAR_038646
22MC4Rp.Gly181AspVAR_038647rs13447333
23MC4Rp.Ala219ValVAR_038648
24MC4Rp.Val253IleVAR_038650rs187152753
25MC4Rp.Cys271ArgVAR_038651
26MC4Rp.Cys271TyrVAR_038652
27MC4Rp.Ile316SerVAR_038653
28MC4Rp.Leu325PheVAR_038654
29PPARGp.Pro113GlnVAR_010724rs1800571
30UCP3p.Val102IleVAR_004408rs2229707

Expression for genes affiliated with Obesity, Association with

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Obesity, Association with

Search GEO for disease gene expression data for Obesity, Association with.

Pathways for genes affiliated with Obesity, Association with

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 52R&D Systems
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Compounds for genes affiliated with Obesity, Association with

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Obesity, Association with according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1glucose4411.1GIP, UCP3, APLN, PPARG, RBP4, LIPE
2lipid4411.1GIP, UCP3, PPARG, ADRA2A, PNPLA2, LEP
3cholesterol44 28 11 2414.0LEP, APLN, NAMPT, RETN, MC4R, HCRT
4fatty acid4411.0UCP3, PNPLA2, LEP, NAMPT, RETN, MC4R
5rosiglitazone44 49 28 11 2415.0PPARG, NAMPT, RBP4, LIPE, RETN, UCP3
6shu 911944 5912.0LEP, MC5R, MC4R, MC3R
7alpha msh4411.0MC5R, LEP, MC3R, MC4R
8pioglitazone44 49 28 1113.9RETN, LEP, NAMPT, PPARG, RBP4
9pg-9012810.9MC4R, MC5R, MC3R
10agouti-related protein2810.9MC4R, MC5R, MC3R
11ndp-msh2810.9MC3R, MC4R, MC5R
12[125i]ndp-msh2810.9MC3R, MC4R, MC5R
13mt-ii2810.9MC4R, MC3R, MC5R
14α-msh2810.9MC5R, MC3R, MC4R
15estrogen4410.9ADRA2A, RETN, HCRT, LIPE, PPARG, LEP
16hs0242810.9MC3R, MC4R, MC5R
17shu91192810.9MC5R, MC4R, MC3R
18pg 1065910.9MC3R, MC4R, MC5R
19hs 0145910.9MC5R, MC3R, MC4R
20norepinephrine44 11 2412.9LEP, RETN, LIPE, HCRT, UCP3, ADRA2A
21alpha-msh5910.9MC3R, MC4R, MC5R
22thiazolidinedione4410.9PPARG, RETN, LEP, UCP3
23[d-trp8]-gamma-msh5910.9MC3R, MC4R, MC5R
24testosterone44 59 11 2413.9RETN, PPARG, LIPE, RBP4, LEP, HCRT
25thyroxine44 2411.9PPARG, RBP4, HCRT, RETN, LEP
26dexamethasone44 49 28 1113.9LIPE, LEP, HCRT, RBP4, NAMPT, RETN
27acth4410.9LEP, MC3R, MC4R, MC5R, HCRT
28metformin44 49 1112.9PPARG, RETN, NAMPT, LEP
29c-peptide4410.9GIP, LEP, RETN, HCRT
30calcium44 49 11 2413.9UCP3, RETN, MC4R, MC3R, GIP, HCRT
31triacylglycerol4410.9LEP, PNPLA2, LIPE, RBP4
32ribonucleic acid4410.8LIPE, RBP4, HCRT, NAMPT, UCP3
33epinephrine44 11 2412.8ADRA2A, LEP, GIP, HCRT, LIPE
34acipimox44 2811.8LEP, LIPE, UCP3
35alanine4410.8PPARG, APLN, HCRT, MC4R, GIP, RBP4
36corticosterone44 59 2412.8MC3R, HCRT, MC4R, LEP
37adenylate4410.8LIPE, HCRT, GIP, MC4R, ADRA2A, RBP4
38catecholamine4410.8LIPE, HCRT, PNPLA2, ADRA2A
39cocaine44 1111.8HCRT, LEP, MC4R, MC3R
40[125i]shu91192810.8MC3R, MC4R
41hs0142810.7MC3R, MC4R
42ly2940024410.7RETN, PPARG, APLN, LEP, UCP3
43niacin44 1111.7PPARG, LIPE, NAMPT
44glycerol44 11 2412.7LIPE, LEP, PNPLA2, PPARG
45glycerol 3-phosphate44 2411.6LEP, LIPE, PPARG
46fenofibrate44 49 1112.6PPARG, RETN, LEP
47dopamine44 28 11 2413.5MC3R, MC4R, HCRT, RBP4, ADRA2A
482-deoxyglucose44 1111.5PPARG, LIPE, UCP3
49nitric oxide44 11 2412.4RETN, MC4R, APLN, HCRT, LIPE, UCP3
50gnrh4410.2ADRA2A, MC3R, HCRT, LEP

GO Terms for genes affiliated with Obesity, Association with

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16Gene Ontology
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Biological processes related to Obesity, Association with according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1response to insulin stimulusGO:03286810.8LEP, RETN, MC4R, RBP4, UCP3
2adipose tissue developmentGO:06061210.7LEP, NAMPT, FTO
3positive regulation of cAMP biosynthetic processGO:03081910.7MC5R, MC4R, MC3R
4negative regulation of vasoconstrictionGO:04590610.7LEP, APLN
5negative regulation of sequestering of triglycerideGO:01089110.7PNPLA2, PPARG
6regulation of blood pressureGO:00821710.7PPARG, MC3R, LEP
7female pregnancyGO:00756510.6ADRA2A, LEP, GIP
8regulation of insulin secretionGO:05079610.6ADRA2A, LEP, GIP
9glucose homeostasisGO:04259310.5PPARG, RBP4, ADRA2A
10triglyceride catabolic processGO:01943310.5PNPLA2, LIPE
11energy reserve metabolic processGO:00611210.4ADRA2A, LEP, MC4R
12positive regulation of cytokine productionGO:00181910.2ADRA2A, LEP

Molecular functions related to Obesity, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanocortin receptor activityGO:00497710.6MC3R, MC4R, MC5R
2hormone activityGO:00517910.5APLN, GIP, RETN, LEP
3triglyceride lipase activityGO:00480610.5PNPLA2, LIPE
4melanocyte-stimulating hormone receptor activityGO:00498010.4MC3R, MC4R
5neuropeptide bindingGO:04292310.2MC3R, MC4R

Products for genes affiliated with Obesity, Association with

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Sources for Obesity, Association with

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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