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Melanocortin 4 Receptor Deficiency

MedGen UID:
891157
•Concept ID:
C4054546
•
Finding
Synonyms: MC4R DEFICIENCY; MELANOCORTIN 4 RECEPTOR DEFICIENCY
 
OMIM®: 618406

Definition

Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCFR4 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMelanocortin 4 Receptor Deficiency

Professional guidelines

PubMed

Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment.
Kühnen P, Krude H, Biebermann H
Trends Mol Med 2019 Feb;25(2):136-148. Epub 2019 Jan 11 doi: 10.1016/j.molmed.2018.12.002. PMID: 30642682
The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options.
Fani L, Bak S, Delhanty P, van Rossum EF, van den Akker EL
Int J Obes (Lond) 2014 Feb;38(2):163-9. Epub 2013 Jun 18 doi: 10.1038/ijo.2013.80. PMID: 23774329
Melanocortin-4 receptor agonists for the treatment of obesity.
Emmerson PJ, Fisher MJ, Yan LZ, Mayer JP
Curr Top Med Chem 2007;7(11):1121-30. doi: 10.2174/156802607780906636. PMID: 17584132

Recent clinical studies

Therapy

Weight and Glycemic Control Outcomes of Bariatric Surgery and Pharmacotherapy in Patients With Melanocortin-4 Receptor Deficiency.
Fojas EGF, Radha SK, Ali T, Nadler EP, Lessan N
Front Endocrinol (Lausanne) 2021;12:792354. Epub 2022 Jan 13 doi: 10.3389/fendo.2021.792354. PMID: 35095762Free PMC Article

Prognosis

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT, Kelly MA, Sturm AC, Martin CL, Ledbetter DH
Nat Commun 2019 Oct 25;10(1):4897. doi: 10.1038/s41467-019-12869-0. PMID: 31653860Free PMC Article

Clinical prediction guides

Weight and Glycemic Control Outcomes of Bariatric Surgery and Pharmacotherapy in Patients With Melanocortin-4 Receptor Deficiency.
Fojas EGF, Radha SK, Ali T, Nadler EP, Lessan N
Front Endocrinol (Lausanne) 2021;12:792354. Epub 2022 Jan 13 doi: 10.3389/fendo.2021.792354. PMID: 35095762Free PMC Article
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT, Kelly MA, Sturm AC, Martin CL, Ledbetter DH
Nat Commun 2019 Oct 25;10(1):4897. doi: 10.1038/s41467-019-12869-0. PMID: 31653860Free PMC Article
Greater impact of melanocortin-4 receptor deficiency on rates of growth and risk of type 2 diabetes during childhood compared with adulthood in Pima Indians.
Thearle MS, Muller YL, Hanson RL, Mullins M, Abdussamad M, Tran J, Knowler WC, Bogardus C, Krakoff J, Baier LJ
Diabetes 2012 Jan;61(1):250-7. Epub 2011 Nov 21 doi: 10.2337/db11-0708. PMID: 22106157Free PMC Article
Obesity accelerates thymic aging.
Yang H, Youm YH, Vandanmagsar B, Rood J, Kumar KG, Butler AA, Dixit VD
Blood 2009 Oct 29;114(18):3803-12. Epub 2009 Aug 31 doi: 10.1182/blood-2009-03-213595. PMID: 19721009Free PMC Article
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
Stutzmann F, Tan K, Vatin V, Dina C, Jouret B, Tichet J, Balkau B, Potoczna N, Horber F, O'Rahilly S, Farooqi IS, Froguel P, Meyre D
Diabetes 2008 Sep;57(9):2511-8. Epub 2008 Jun 16 doi: 10.2337/db08-0153. PMID: 18559663Free PMC Article

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    • OMIM
      Related records in OMIM

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