MCID: OBS029
MIFTS: 43

Obesity, Association with malady

Genetic diseases, Endocrine diseases, Rare diseases categories
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Summaries for Obesity, Association with

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47OMIM, 33MalaCards
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MalaCards: Obesity, Association with, also known as obesity due to melanocortin 4 receptor deficiency, is related to obesity and insulin resistance. An important gene associated with Obesity, Association with is SDC3 (syndecan 3), and among its related pathways are Syndecan-3-mediated signaling events and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds carbacyclin and thiazolidinedione have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and adipocyte, and related mouse phenotypes are homeostasis/metabolism and adipose tissue.

Description from OMIM:47 601665

Aliases & Classifications for Obesity, Association with

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47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


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

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Obesity, Association with:



Diseases related to obesity, association with

Symptoms for Obesity, Association with

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47OMIM
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Symptoms by clinical synopsis from OMIM:

601665

Clinical features from OMIM:

601665

Drugs & Therapeutics for Obesity, Association with

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Obesity, Association with:

33
Liver, Skeletal muscle, Adipocyte

Animal Models for Obesity, Association with or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Obesity, Association with:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0MC4R, UCP3, PPARG, SDC3
2MP:00053757.9PPARG, SDC3, MC4R, UCP3
3MP:00053787.7UCP3, PPARG, SDC3, MC4R

Publications for Obesity, Association with

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52PubMed
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Articles related to Obesity, Association with:

(show all 26)
idTitleAuthorsYear
1
Hypoadiponectinemia in obesity: association with insulin resistance. (24426202)
2013
2
Eating disorder pathology in adolescents participating in a lifestyle intervention for obesity: associations with weight change, general psychopathology and health-related quality of life. (23941969)
2013
3
The selective orexin receptor 1 antagonist ACT-335827 in a rat model of diet-induced obesity associated with metabolic syndrome. (24416020)
2013
4
Is Prepregnancy Obesity Associated With Risk of Cerebral Palsy and Epilepsy in Children? (24334343)
2013
5
Hypothermia, hypotension, hypersomnia, and obesity associated with hypothalamic lesions in a patient positive for the anti-aquaporin 4 antibody: a case report and literature review. (22777080)
2012
6
Molecular basis of the obesity associated with Bardet-Biedl syndrome. (21514177)
2011
7
Energy expenditure in obesity associated with craniopharyngioma. (20107994)
2010
8
Is obesity associated with anemia of chronic disease? A population-based study. (18719644)
2008
9
sP-selectin plasma levels in obesity: association with insulin resistance and related metabolic and prothrombotic factors. (17400434)
2008
10
Abnormal liver function and central obesity associate with work-related fatigue among the Taiwanese workers. (19030209)
2008
11
Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns. (18551113)
2008
12
Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism in physically inactive elderly men. (16474966)
2006
13
Reductions in caloric intake and early postnatal growth prevent glucose intolerance and obesity associated with low birthweight. (16761107)
2006
14
Alanine aminotransferase levels and fatty liver in childhood obesity: associations with insulin resistance, adiponectin, and visceral fat. (16912127)
2006
15
Growth hormone overexpression in the central nervous system results in hyperphagia-induced obesity associated with insulin resistance and dyslipidemia. (15616010)
2005
16
Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH). (15809662)
2005
17
Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in PPARgamma gene?]. (15518421)
2004
18
Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in the PPARgamma gene?]. (15690702)
2004
19
Childhood inattention and dysphoria and adult obesity associated with the dopamine D4 receptor gene in overeating women with seasonal affective disorder. (14560322)
2004
20
Efficiency of the vegetative tea in diet therapy for patients with obesity associated with diabetes mellitus type 2]. (12968297)
2003
21
Apolipoprotein B-100 kinetics in visceral obesity: associations with plasma apolipoprotein C-III concentration. (12145779)
2002
22
High circulating levels of adrenomedullin and endothelin-1 in obesity associated with arterial hypertension]. (11675821)
2001
23
Endocrine and metabolic abnormalities involved in obesity associated with typical antipsychotic drug administration. (11778142)
2001
24
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. (10587584)
2000
25
Overexpression of muscle uncoupling protein 2 content in human obesity associates with reduced skeletal muscle lipid utilization. (9837864)
1998
26
Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. (9753710)
1998

Variations for Obesity, Association with

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Obesity, Association with:

64 (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

Clinvar genetic disease variations for Obesity, Association with:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1MC4RMC4R, 4-BP DEL, NT631deletionPathogenic
2MC4RMC4R, 4-BP INS, NT732insertionPathogenic
3MC4RNM_005912.2(MC4R): c.105C> A (p.Tyr35Ter)single nucleotide variantPathogenicrs13447324GRCh37Chr 18, 58039478: 58039478
4MC4RNM_005912.2(MC4R): c.110A> T (p.Asp37Val)single nucleotide variantPathogenic, Uncertain significancers13447325GRCh37Chr 18, 58039473: 58039473
5MC4RNM_005912.2(MC4R): c.148G> A (p.Val50Met)single nucleotide variantPathogenicrs121913557GRCh37Chr 18, 58039435: 58039435
6MC4RNM_005912.2(MC4R): c.172A> T (p.Ser58Cys)single nucleotide variantPathogenicrs121913558GRCh37Chr 18, 58039411: 58039411
7MC4RNM_005912.2(MC4R): c.305T> G (p.Ile102Ser)single nucleotide variantPathogenicrs121913559GRCh37Chr 18, 58039278: 58039278
8MC4RNM_005912.2(MC4R): c.508A> G (p.Ile170Val)single nucleotide variantPathogenicrs121913560GRCh37Chr 18, 58039075: 58039075
9MC4RNM_005912.2(MC4R): c.821A> G (p.Asn274Ser)single nucleotide variantPathogenicrs121913561GRCh37Chr 18, 58038762: 58038762
10MC4RMC4R, 1-BP INS, 112AinsertionPathogenic
11MC4RMC4R, 4-BP DEL, 211CTCTdeletionPathogenic
12MC4RMC4R, 2-BP INS, 279GTinsertionPathogenic
13MC4RMC4R, ILE125LYSundetermined variantPathogenic
14MC4RNM_005912.2(MC4R): c.812G> A (p.Cys271Tyr)single nucleotide variantPathogenicrs121913562GRCh37Chr 18, 58038771: 58038771
15MC4RNM_005912.2(MC4R): c.523G> A (p.Ala175Thr)single nucleotide variantPathogenicrs121913563GRCh37Chr 18, 58039060: 58039060
16MC4RNM_005912.2(MC4R): c.947T> G (p.Ile316Ser)single nucleotide variantPathogenicrs121913564GRCh37Chr 18, 58038636: 58038636
17MC4RNM_005912.2(MC4R): c.861T> A (p.Tyr287Ter)single nucleotide variantPathogenicrs121917829GRCh37Chr 18, 58038722: 58038722
18MC4RNM_005912.2(MC4R): c.289A> G (p.Asn97Asp)single nucleotide variantPathogenicrs121913565GRCh37Chr 18, 58039294: 58039294
19MC4RNM_005912.2(MC4R): c.185A> G (p.Asn62Ser)single nucleotide variantPathogenicrs121913566GRCh37Chr 18, 58039398: 58039398
20MC4RMC4R, 15-BP DELdeletionPathogenic
21MC4RNM_005912.2(MC4R): c.380C> T (p.Ser127Leu)single nucleotide variantPathogenicrs13447331GRCh37Chr 18, 58039203: 58039203
22MC4RMC4R, 2-BP DEL, 750GAdeletionPathogenic
23MC4RNM_005912.2(MC4R): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs121913567GRCh37Chr 18, 58038927: 58038927
24MC4RNM_005912.2(MC4R): c.835_836dupTG (p.Phe280Alafs)duplicationPathogenicrs193922687GRCh37Chr 18, 58038746: 58038747
25MC4RNM_005912.2(MC4R): c.896C> A (p.Pro299His)single nucleotide variantPathogenicrs52804924GRCh37Chr 18, 58038687: 58038687

Expression for genes affiliated with Obesity, Association with

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Compounds for genes affiliated with Obesity, Association with

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29IUPHAR, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Obesity, Association with according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1carbacyclin29 4510.4PPARG, UCP3
2thiazolidinedione459.4PPARG, UCP3
3bezafibrate45 29 1111.3PPARG, UCP3
42-deoxyglucose45 1110.3PPARG, UCP3
5carnitine459.2PPARG, UCP3
6rosiglitazone29 45 51 24 1113.1PPARG, UCP3
7ly294002459.1PPARG, UCP3
8troglitazone45 29 61 1112.0UCP3, PPARG
9palmitate458.8PPARG, MC4R, UCP3
10fatty acid458.7PPARG, MC4R, UCP3
11cholesterol45 29 24 1111.7UCP3, PPARG, MC4R
12glucose458.6PPARG, MC4R, UCP3
13lipid458.2MC4R, UCP3, PPARG

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:

idNameGO IDScoreTop Affiliating Genes
1response to insulinGO:0328689.2UCP3, MC4R
2response to coldGO:0094099.1UCP3, PPARG
3lipid metabolic processGO:0066299.1UCP3, PPARG
4response to nutrientGO:0075848.8UCP3, PPARG

Products for genes affiliated with Obesity, Association with

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  • Antibodies

Sources for Obesity, Association with

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet