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McCune Albright syndrome

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Other Names for this Disease

  • Albright syndrome
  • Albright's disease
  • MAS
  • PFD
  • POFD
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Overview

McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues.[1][2][3] It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction).[4] MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene.[1] Because MAS occurs by chance, it is not inherited or passed down from one generation to the next.[1][3]
Last updated: 12/26/2013

References

  1. McCune-Albright syndrome. Genetics Home Reference (GHR). January 2009; http://ghr.nlm.nih.gov/condition=mccunealbrightsyndrome. Accessed 10/17/2013.
  2. Haldeman-Englert C. McCune-Albright syndrome. MedlinePlus. 2012; http://www.nlm.nih.gov/medlineplus/ency/article/001217.htm. Accessed 10/17/2013.
  3. McCune-Albright Syndrome. National Institute of Child Health and Human Development (NICHD). 2013; http://www.nichd.nih.gov/health/topics/mccune-albright/Pages/default.aspx. Accessed 10/17/2013.
  4. McCune Albright Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/183/viewAbstract. Accessed 10/17/2013.
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  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss McCune Albright syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Albright syndrome
  • Albright's disease
  • MAS
  • PFD
  • POFD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.