MCID: OBS067
MIFTS: 22

Obesity Due to Melanocortin 4 Receptor Deficiency

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Obesity Due to Melanocortin 4 Receptor Deficiency

MalaCards integrated aliases for Obesity Due to Melanocortin 4 Receptor Deficiency:

Name: Obesity Due to Melanocortin 4 Receptor Deficiency 58
Mc4r Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
obesity due to melanocortin 4 receptor deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (France); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E66.8
Orphanet 58 ORPHA71529

Summaries for Obesity Due to Melanocortin 4 Receptor Deficiency

MalaCards based summary : Obesity Due to Melanocortin 4 Receptor Deficiency, also known as mc4r deficiency, is related to body mass index quantitative trait locus 20 and attention deficit-hyperactivity disorder. An important gene associated with Obesity Due to Melanocortin 4 Receptor Deficiency is MC4R (Melanocortin 4 Receptor). Affiliated tissues include bone and brain, and related phenotypes are increased adipose tissue and polyphagia

Related Diseases for Obesity Due to Melanocortin 4 Receptor Deficiency

Diseases related to Obesity Due to Melanocortin 4 Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 20 11.3
2 attention deficit-hyperactivity disorder 10.1
3 body mass index quantitative trait locus 11 10.1
4 bulimia nervosa 10.1
5 leptin deficiency or dysfunction 10.1
6 hyperinsulinism 10.1
7 eating disorder 10.1
8 genetic obesity 10.1
9 fatty liver disease, nonalcoholic 1 10.0
10 non-alcoholic steatohepatitis 10.0
11 tic disorder 10.0
12 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Obesity Due to Melanocortin 4 Receptor Deficiency:



Diseases related to Obesity Due to Melanocortin 4 Receptor Deficiency

Symptoms & Phenotypes for Obesity Due to Melanocortin 4 Receptor Deficiency

Human phenotypes related to Obesity Due to Melanocortin 4 Receptor Deficiency:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased adipose tissue 58 31 obligate (100%) Obligate (100%) HP:0009126
2 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
3 childhood-onset truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0008915
4 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
5 hypertriglyceridemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002155
6 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 hyperinsulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000842
8 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
9 obesity 58 Obligate (100%)

Drugs & Therapeutics for Obesity Due to Melanocortin 4 Receptor Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1, Randomized, Double-blind, Placebo-controlled, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RM 493 Administered to Healthy Obese Non-diabetic Volunteers Completed NCT02431442 Phase 1 RM-493;Placebo
2 Vanderbilt Childhood Obesity Registry Recruiting NCT02957916

Search NIH Clinical Center for Obesity Due to Melanocortin 4 Receptor Deficiency

Genetic Tests for Obesity Due to Melanocortin 4 Receptor Deficiency

Anatomical Context for Obesity Due to Melanocortin 4 Receptor Deficiency

MalaCards organs/tissues related to Obesity Due to Melanocortin 4 Receptor Deficiency:

40
Bone, Brain

Publications for Obesity Due to Melanocortin 4 Receptor Deficiency

Articles related to Obesity Due to Melanocortin 4 Receptor Deficiency:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. 61 6
18559663 2008
2
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 61 6
12646665 2003
3
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 6
18801902 2009
4
Medical sequencing at the extremes of human body mass. 6
17357083 2007
5
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children. 6
16968801 2006
6
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. 6
16609882 2006
7
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. 6
16507637 2006
8
A PYY Q62P variant linked to human obesity. 6
16368708 2006
9
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population. 6
16607460 2006
10
Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. 6
16204371 2005
11
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. 6
16025115 2005
12
Increased hepatic levels of the insulin receptor inhibitor, PC-1/NPP1, induce insulin resistance and glucose intolerance. 6
15677494 2005
13
CART peptide levels are altered by a mutation associated with obesity at codon 34. 6
15326462 2004
14
Effects of the Trp64Arg polymorphism in the beta3-adrenergic receptor gene on insulin sensitivity in small for gestational age neonates. 6
15472194 2004
15
The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth. 6
15126519 2004
16
The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes. 6
15001634 2004
17
A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2. 6
14988267 2004
18
Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance. 6
14671192 2003
19
Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population. 6
12905068 2003
20
Ghrelin gene: identification of missense variants and a frameshift mutation in extremely obese children and adolescents and healthy normal weight students. 6
12050239 2002
21
Structure and receptor binding of PYY analogs. 6
11825645 2002
22
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. 6
11771660 2002
23
The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance. 6
11739459 2001
24
Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family. 6
11522684 2001
25
Mutations in the preproghrelin/ghrelin gene associated with obesity in humans. 6
11502844 2001
26
Insulin response to glucose is lower in individuals homozygous for the Arg 64 variant of the beta-3-adrenergic receptor. 6
11095426 2000
27
Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects. 6
10999801 2000
28
Primary structures of PYY, [Pro(34)]PYY, and PYY-(3-36) confer different conformations and receptor selectivity. 6
10898754 2000
29
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 6
10577903 1999
30
A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. 6
10480624 1999
31
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). 6
10453738 1999
32
The association between Trp64Arg polymorphism of the beta3-adrenergic receptor and autonomic nervous system activity. 6
10323390 1999
33
Trp64Arg polymorphism of the beta3-adrenergic receptor gene in pregnancy: association with mild gestational diabetes mellitus. 6
10323402 1999
34
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 6
10199800 1999
35
Polymorphism of the human beta3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function. 6
9892244 1999
36
Trp64Arg variant of the beta3-adrenoceptor and insulin resistance in obese postmenopausal women. 6
9814483 1998
37
The Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population-based Caucasian cohort. 6
9709965 1998
38
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. 6
9662402 1998
39
A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans. 6
9449691 1998
40
Lack of association between the Trp64 Arg mutation in the beta 3-adrenergic receptor gene and obesity in Japanese men: a longitudinal analysis. 6
9100608 1997
41
A mutation of the beta 3-adrenergic receptor is associated with visceral obesity but decreased serum triglyceride. 6
9112025 1997
42
A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. 6
9054940 1997
43
Role of the beta 3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair. 6
8954053 1996
44
The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts. 6
8903328 1996
45
Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene. 6
7609750 1995
46
Genetic variation in the beta 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity. 6
7609752 1995
47
Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case series. 61
31670905 2020
48
MC4R deficiency in pigs results in hyperphagia and ultimately hepatic steatosis without high-fat diet. 61
31629472 2019
49
Celastrol Reduces Obesity in MC4R Deficiency and Stimulates Sympathetic Nerve Activity Affecting Metabolic and Cardiovascular Functions. 61
30894367 2019
50
Role of melanocortin 4 receptor in hypertension induced by chronic intermittent hypoxia. 61
30466186 2019

Variations for Obesity Due to Melanocortin 4 Receptor Deficiency

Expression for Obesity Due to Melanocortin 4 Receptor Deficiency

Search GEO for disease gene expression data for Obesity Due to Melanocortin 4 Receptor Deficiency.

Pathways for Obesity Due to Melanocortin 4 Receptor Deficiency

GO Terms for Obesity Due to Melanocortin 4 Receptor Deficiency

Sources for Obesity Due to Melanocortin 4 Receptor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....