McCune Albright syndrome

Common Name(s)

McCune Albright syndrome, McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. 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). 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. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McCune Albright syndrome" for support, advocacy or research.

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

Last Updated: 12 Dec 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 18 Jun 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McCune Albright syndrome" for support, advocacy or research.

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

http://www.fibrousdysplasia.org/

Last Updated: 12 Dec 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 18 Jun 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "McCune Albright syndrome" returned 50 free, full-text research articles on human participants. First 3 results:

Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.
 

Author(s): Kyle Turcic, Raquel Tobar-Rubin, Daniela Janevska, Julie Carroll, Eraj Din, Rebecca Alvarez, Jennifer Haick, Robin Pals-Rylaarsdam

Journal: J. Mol. Endocrinol.. 2014 Jun;52(3):321-31.

 

Gain-of-function mutations in heterotrimeric G-protein α subunits are associated with a variety of human diseases. McCune-Albright syndrome (MAS) is caused by mutations in GNAS, the gene encoding Gs. Alterations at Arg201 significantly reduce the GTPase activity of the protein, rendering ...

Last Updated: 22 May 2014

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Dental perspectives in fibrous dysplasia and McCune-Albright syndrome.
 

Author(s): Sunday O Akintoye, Alison M Boyce, Michael T Collins

Journal: Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Sep;116(3):e149-55.

 

McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (FD), endocrine disorders, and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant ...

Last Updated: 19 Aug 2013

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Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
 

Author(s): Satoshi Narumi, Kumihiro Matsuo, Tomohiro Ishii, Yusuke Tanahashi, Tomonobu Hasegawa

Journal: PLoS ONE. 2013 ;8(3):e60525.

 

Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can ...

Last Updated: 28 Mar 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "McCune Albright syndrome" returned 7 free, full-text review articles on human participants. First 3 results:

Acromegaly and McCune-Albright syndrome.
 

Author(s): Sylvie Salenave, Alison M Boyce, Michael T Collins, Philippe Chanson

Journal: J. Clin. Endocrinol. Metab.. 2014 Jun;99(6):1955-69.

 

McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects around 20% of MAS patients.

Last Updated: 4 Jun 2014

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Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
 

Author(s): Paraskevi Salpea, Constantine A Stratakis

Journal: Mol. Cell. Endocrinol.. 2014 Apr;386(1-2):85-91.

 

Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of endocrine and non-endocrine organs associated with other clinical manifestations. This study outlines the main clinical features, genetic basis, and molecular mechanisms behind two multiple endocrine ...

Last Updated: 3 Mar 2014

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McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.
 

Author(s): Michael T Collins, Frederick R Singer, Erica Eugster

Journal: Orphanet J Rare Dis. 2012 May;7 Suppl 1():S4.

 

Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated ...

Last Updated: 29 May 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome
 

Status: Recruiting

Condition Summary: McCune Albright Syndrome

 

Last Updated: 28 Aug 2015

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Histamine Responsiveness in McCune-Albright Syndrome
 

Status: Recruiting

Condition Summary: McCune-Albright Syndrome

 

Last Updated: 1 May 2006

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TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE
 

Status: Recruiting

Condition Summary: Fibrous Dysplasia of Bone

 

Last Updated: 14 Mar 2013

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