MCID: OBS029
MIFTS: 37

Obesity, Association with malady

Metabolic, Endocrine categories

Summaries for Obesity, Association with

Sources:
47OMIM, 33MalaCards
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MalaCards: Obesity, Association with, also known as obesity due to melanocortin 4 receptor deficiency, is related to insulin resistance 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:47 601665

Aliases & Classifications for Obesity, Association with

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
obesity due to melanocortin 4 receptor deficiency 49
mc4r deficiency 49


External Ids:

OMIM47 601665
ICD10 via Orphanet26 E66.8
ICD1025 E66, E66.0, E66.9

Related Diseases for Obesity, Association with

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance30.4UCP3, APLN, PPARG, RBP4, LIPE, GIP
2morbid obesity30.2HCRT, MC4R, MC3R, RETN, LEP
3growth hormone deficiency30.1LEP
4glucose intolerance29.9PPARG, RBP4, LIPE, RETN, LEP
5attention deficit hyperactivity disorder10.2
6anorexia nervosa10.0RETN, LEP, MC3R, MC4R, HCRT
7diabetes mellitus10.0UCP3, PPARG, RBP4, LIPE, GIP, FTO
8type 2 diabetes mellitus10.0UCP3, PPARG, RBP4, LIPE, GIP, MC4R
9hyperinsulinism10.0PPARG, GIP, MC4R, RETN, LEP
10polycystic ovary syndrome10.0PPARG, RBP4, LIPE, RETN, NAMPT, LEP
11familial hyperlipidemia10.0UCP3, PPARG, LIPE, RETN, NAMPT, LEP
12hyperandrogenism10.0LEP, RETN, MC4R, PPARG
13atherosclerosis10.0UCP3, APLN, PPARG, RBP4, LIPE, RETN
14lipodystrophy10.0PPARG, LIPE, RETN, LEP
15hyperglycemia10.0PPARG, GIP, RETN, NAMPT, LEP
16obesity10.0MC4R, PPARG, UCP3
17gestational diabetes10.0RBP4, RETN, NAMPT, LEP
18acromegaly10.0LEP, RETN
19familial combined hyperlipidemia10.0LIPE
20coronary heart disease10.0LIPE, RETN, LEP
21fatty liver disease10.0PPARG, RBP4, RETN, LEP
22eating disorder10.0LEP
23hypercholesterolemia10.0RETN, RBP4
24myocardial infarction10.0RETN
25hypertension10.0LEP, RETN, PPARG
26liver cirrhosis10.0LEP, RETN, RBP4
27primary hyperoxaluria10.0PPARG, RBP4, RETN, NAMPT, LEP
28acquired generalized lipodystrophy10.0LEP, RETN
29hypertriglyceridemia10.0PPARG, LEP
30hyperthyroidism10.0LEP, RETN
31cushing's syndrome10.0GIP, RETN, LEP
32coronary artery disease,10.0APLN, PPARG, RETN, NAMPT
33bulimia nervosa10.0MC4R, LEP
34familial partial lipodystrophy10.0PPARG, LEP
35galactosemia10.0LEP, RETN, RBP4, PPARG
36congenital generalized lipodystrophy type 210.0LEP, PPARG
37hypothyroidism10.0RETN, LEP
38acute myocardial infarction10.0RETN
39congenital heart defect10.0LEP, RETN, PPARG
40metabolic syndrome x10.0LEP, PPARG
41bardet-biedl syndrome10.0
42alstrom syndrome10.0
43seasonal affective disorder10.0
443-m syndrome10.0
45hypersomnia10.0

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



Diseases related to obesity, association with

Clinical Features for Obesity, Association with

Sources:
47OMIM
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Clinical features from OMIM:

601665

Clinical synopsis from OMIM:

601665

Drugs & Therapeutics for Obesity, Association with

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Obesity, Association with

Animal Models for Obesity, Association with or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Obesity, Association with

Genetic Variations for Obesity, Association with

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Obesity, Association with:

63 (show all 30)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 53R&D Systems
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Compounds for genes affiliated with Obesity, Association with

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Obesity, Association with according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1glucose4511.1ADRA2A, UCP3, APLN, PPARG, RBP4, LIPE
2lipid4511.1GIP, HCRT, LIPE, RBP4, PPARG, UCP3
3cholesterol45 29 11 2414.0UCP3, APLN, PPARG, RBP4, LIPE, HCRT
4fatty acid4511.0UCP3, PPARG, RBP4, LIPE, MC4R, RETN
5rosiglitazone45 50 29 11 2415.0UCP3, PPARG, RBP4, LIPE, RETN, NAMPT
6shu 911945 6012.0MC5R, MC4R, MC3R, LEP
7alpha msh4511.0MC5R, MC4R, MC3R, LEP
8pioglitazone45 50 29 1113.9PPARG, RBP4, RETN, NAMPT, LEP
9agouti-related protein2910.9MC5R, MC4R, MC3R
10pg-9012910.9MC5R, MC4R, MC3R
11shu91192910.9MC4R, MC5R, MC3R
12α-msh2910.9MC3R, MC4R, MC5R
13hs0242910.9MC3R, MC4R, MC5R
14mt-ii2910.9MC5R, MC3R, MC4R
15estrogen4510.9UCP3, PPARG, RBP4, LIPE, HCRT, RETN
16ndp-msh2910.9MC3R, MC4R, MC5R
17[125i]ndp-msh2910.9MC3R, MC4R, MC5R
18alpha-msh6010.9MC4R, MC5R, MC3R
19[d-trp8]-gamma-msh6010.9MC3R, MC4R, MC5R
20norepinephrine45 11 2412.9UCP3, LIPE, HCRT, RETN, LEP, ADRA2A
21hs 0146010.9MC5R, MC4R, MC3R
22thiazolidinedione4510.9UCP3, PPARG, RETN, LEP
23pg 1066010.9MC5R, MC4R, MC3R
24testosterone45 60 11 2413.9PPARG, RBP4, LIPE, HCRT, RETN, LEP
25thyroxine45 2411.9PPARG, RBP4, HCRT, RETN, LEP
26dexamethasone45 50 29 1113.9PPARG, RBP4, LIPE, HCRT, RETN, NAMPT
27acth4510.9HCRT, MC5R, MC4R, MC3R, LEP
28metformin45 50 1112.9LEP, NAMPT, RETN, PPARG
29c-peptide4510.9HCRT, GIP, RETN, LEP
30calcium45 50 11 2413.9UCP3, APLN, RBP4, LIPE, HCRT, GIP
31triacylglycerol4510.9RBP4, LIPE, LEP, PNPLA2
32ribonucleic acid4510.8NAMPT, HCRT, LIPE, RBP4, UCP3
33epinephrine45 11 2412.8LIPE, HCRT, GIP, LEP, ADRA2A
34acipimox45 2911.8LEP, LIPE, UCP3
35alanine4510.8APLN, PPARG, RBP4, HCRT, GIP, MC4R
36corticosterone45 60 2412.8HCRT, MC4R, MC3R, LEP
37adenylate4510.8RBP4, LIPE, HCRT, GIP, MC4R, ADRA2A
38catecholamine4510.8LIPE, HCRT, PNPLA2, ADRA2A
39cocaine45 1111.8HCRT, MC4R, MC3R, LEP
40[125i]shu91192910.8MC3R, MC4R
41hs0142910.7MC4R, MC3R
42ly2940024510.7LEP, RETN, PPARG, APLN, UCP3
43niacin45 1111.7PPARG, LIPE, NAMPT
44glycerol45 11 2412.7PNPLA2, LEP, LIPE, PPARG
45glycerol 3-phosphate45 2411.6PPARG, LIPE, LEP
46fenofibrate45 50 1112.6LEP, RETN, PPARG
47dopamine45 29 11 2413.5RBP4, HCRT, MC4R, MC3R, ADRA2A
482-deoxyglucose45 1111.5LIPE, PPARG, UCP3
49nitric oxide45 11 2412.4UCP3, APLN, LIPE, HCRT, MC4R, RETN
50gnrh4510.2HCRT, MC3R, LEP, ADRA2A

GO Terms for genes affiliated with Obesity, Association with

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Obesity, Association with

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet