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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 705 | |
Name: | Obesity due to melanocortin 4 receptor deficiency | |
Associated with: | 1 target |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖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 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Obesity due to melanocortin 4 receptor deficiency
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]