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Obesity due to melanocortin 4 receptor deficiency

Disease ID:705
Name:Obesity due to melanocortin 4 receptor deficiency
Associated with:1 target
Database Links
Disease Ontology: DOID:9970
OMIM: 601665
Orphanet: ORPHA71529


MC4 receptor
Comments:  Mutations in the MC4 receptor that lead to loss of function cause an obese phenotype in man. It may be responsible for 3-4% of obesity in individuals with severe childhood onset obesity.
References:  1-3


No ligand related data available for Obesity due to melanocortin 4 receptor deficiency


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1. Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S. (2003) Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N. Engl. J. Med., 348 (12): 1085-95. [PMID:12646665]

2. Farooqi IS, O'Rahilly S. (2008) Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity. Nat Clin Pract Endocrinol Metab, 4 (10): 569-77. [PMID:18779842]

3. Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P. (2000) Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J. Clin. Invest., 106 (2): 253-62. [PMID:10903341]