Related Terms

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Background

• Angelman syndrome is a rare inherited genetic disorder that affects the nervous system. Classic characteristics of Angelman syndrome include developmental delays, intellectual disabilities, severely impaired speech, seizures, a small head, and movement and balance problems. People with Angelman syndrome are typically happy and excitable, may frequently smile and laugh, and may flap their hands often. Other symptoms may include short attention span and fair skin and hair.
• The disorder was first described by Dr. Harry Angelman in 1965 when he observed three patients with severe intellectual disabilities, flat heads, jerky body movements, tongues that stuck out, and spontaneous bursts of laughter. Based on these symptoms, the syndrome was known early on as "happy puppet syndrome."
• Angelman syndrome is caused by mutations or defects in the UBE3A gene on chromosome 15. The UBE3A gene provides instructions for making the enzyme ubiquitin protein ligase E3A. This enzyme is involved in targeting proteins to be degraded, or broken down, within cells. For example, the p53 protein, which controls cell growth and division, is one of the targets of ubiquitin protein ligase E3A. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells. A loss of UBE3A gene function likely causes many of the characteristic features of Angelman syndrome.
• Changes in the OCA2 gene are also related to Angelman syndrome. The OCA2 gene provides instructions for making the P protein located in the melanocytes, specialized cells that produce the pigment melanin. Melanin is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue of the retina at the back of the eye, where it plays a role in normal vision. Some people with Angelman syndrome have unusually light-colored hair and fair skin, which is thought to be caused by the loss of one copy of the OCA2 gene in each cell. This gene is located in a region of chromosome 15 that is often deleted in individuals with Angelman syndrome.
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Risk Factors

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Causes

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Signs and Symptoms

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Diagnosis

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Complications

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Treatment

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Integrative Therapies

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Prevention

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Author Information

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References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

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