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Office of Genomics and Disease Prevention

 

 Public Health Perspectives

  

Obesity

Single gene disorders that have obesity as primary feature

A relatively small proportion of obesity in the population can be explained by mutations in single genes.  However, significant understanding of how fat stores are regulated has been gained from studying the biology and clinical presentations of these rare individuals and families and the animal models of these conditions.

These conditions exhibit autosomal recessive, autosomal dominant or X-linked patterns of inheritance.  Information on the genes, the clinical findings and, when available, the treatment interventions, are provided via links to the Online Mendelian Inheritance in Man (OMIM) database (1).  Although these conditions occur rarely in human populations, they are important in helping understand the complex systems that regulate energy intake and expenditure in humans. 

 

Gene Product Gene (OMIM #) Mode of Inheritance
Leptin LEP (164160) Autosomal Recessive
Leptin Receptor LEPR (601007) Autosomal Recessive
Proopiomelanocortin POMC1 (176830) Autosomal Recessive
Human Homolog of Drosophila Single-Minded 1 SIM1 (603128) Likely Autosomal Dominant
Prohormone Convertase 1 PC1 (162150) Autosomal Recessive
Melanocortin-4 Receptor MC4R (155541) Autosomal Dominant

 

1.  Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000.
World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/

Link to the Public Health Perspective Page on Obesity

This page last modified on October 05, 2004