MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE This study investigated whether the combined effects of FTO and MC4R increase the risk of obesity in children and adolescents living in Northwest China. 30896429 2019
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Mutations in melanocortin receptor (MC4R) are the most common cause of monogenic obesity in children of European ancestry, but little is known about their prevalence in children from the minority populations in the United States. 30811542 2019
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. 30442103 2018
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE MC3R and MC4R are involved in metabolic regulation and their gene variants are associated with severe pediatric obesity, whereas the function of MC5R remains to be fully elucidated. 29678289 2018
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE We showed that MC4R rs17782313 and FTO rs9939609 were positively associated with zBMI, with weak and very weak effects, respectively, suggesting a very scarce contribution to childhood obesity. 29679223 2018
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE We found that rs17782313 near MC4R was associated with increased childhood obesity risk and BMI z-score in several inheritable models (P < 0.05). 27926527 2017
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE The combined presence of three or more high-risk alleles of both the FTO and MC4R genes confers a 4-fold higher risk for obesity in children and adolescents of Greek origin, although these risk alleles have no impact on the metabolic alterations observed in these obese children and adolescents. 25402378 2016
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Three known adult BMI-associated loci (FTO, MC4R and ADCY3) and one childhood obesity locus (OLFM4) reached genome-wide significance (PWald < 1.13 × 10(-8)) with BMI at 8 years and/or change over time. 25953783 2015
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE The case emphasizes both the role of the MC4R gene in obesity as well as the importance of looking for chromosomal microdeletions/duplications as a cause of obesity in children with minor anomalies or developmental delay. 25747306 2015
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. 26179253 2015
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE MC4R polymorphism rs17782313 may contribute to childhood obesity, affecting enjoyment of food, satiety responsiveness, and possibly eating in the absence of hunger. 24139164 2014
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Common variants in the FTO locus, and near MC4R locus, have been shown to have a robust association with obesity in children and adults among various ethnic groups. 23447422 2013
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE In summary, moderately rare missense variants within the FTO, MC4R, and TMEM18 genes observed in our study did not confer risk of common childhood obesity in African Americans except for a degree of evidence for one known loss-of-function variant in MC4R. 23505181 2013
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE We examined serum alpha-MSH in 52 otherwise healthy children with childhood obesity (Ob; mean age, 11 years; 32 girls/20 boys), 27 normal-weight children of same age, 7 additional obese patients with reduced melanocortin-4 receptor function (MC4Rmut), and 22 patients with craniopharyngioma (CP). 19766264 2010
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior. 20406574 2010
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry. 19265794 2009
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. 19214805 2009
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE While many studies associated MC4R mutations with childhood obesity, information on MC4R mutations in Spanish children and adolescents is lacking. 17492953 2007
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE The prevalence of MC4R mutations was similar in patients developing obesity in childhood (2.83%; CI(95), 0.9-4.8) and in patients with a later onset of the disease (2.35%; CI(95), 0.9-3.8). 16507637 2006
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE This result has implications for the potential pharmacologic rescue of childhood obesity-associated MC4R mutations and for the treatment of patients presenting with this condition. 12499395 2003
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity. 12959994 2003
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE We determined the nucleotide sequence of the MC4R gene in 500 probands with severe childhood obesity. 12646665 2003
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.100 GeneticVariation disease BEFREE MC4R mutations may be a non-negligible cause of severe obesity in children with variable expression and penetrance. 11487744 2001