Learn About Mccune-Albright Syndrome

What is the definition of Mccune-Albright Syndrome?

McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

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What are the causes of Mccune-Albright Syndrome?

McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein.

How prevalent is Mccune-Albright Syndrome?

McCune-Albright syndrome occurs in 1 in 100,000 to 1 in 1,000,000 people worldwide.

Is Mccune-Albright Syndrome an inherited disorder?

McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs 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 this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. Affected individuals may have reproductive cells (eggs or sperm) with the mutation. However, a resulting embryo would have the mutation in every cell, which is thought to be incompatible with life, so the condition is not passed to the next generation.

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What are the latest Mccune-Albright Syndrome Clinical Trials?
Autotaxin in Patients With GNAS/PTH Abnormalities

Summary: PTH secretion defects (grouped under the name hypoparathyroidism) are due to abnormalities in the PTH gene, abnormalities in the development of the parathyroid glands which synthesize PTH or abnormalities of the calcium sening receptor whose role is to adapt PTH level to ambient calcium level. In contrast, primary hyperparathyroidism in children is also exceptional; expressed by hypercalcemia, wit...

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

Summary: Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puber...

Who are the sources who wrote this article ?

Published Date: January 01, 2018Published By: National Institutes of Health

What are the Latest Advances for Mccune-Albright Syndrome?
Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience.
Inhibition of IL-6 in the treatment of fibrous dysplasia of bone: The randomized double-blind placebo-controlled TOCIDYS trial.
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Successful treatment with denosumab for pelvic fibrous dysplasia: A case report and review of the literature.