Angelman syndrome

Common Name(s)

Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that causes developmental delay, intellectual disability, speech problems, seizures (epilepsy), and problems with movement and balance (ataxia). Individuals with AS have happy and excitable personalities, are frequently smiling and laughing, and usually flap their hands when they are excited. Most children with AS have difficulty sleeping. Other features of AS include an abnormal curve to the spine (scoliosis), a small head size (microcephaly), and light hair, skin and eyes. Certain facial features can be noticed in adults with AS, including deep-set eyes, widely spaced teeth, and a wide smile. People with AS tend to live a normal lifespan.

AS is caused by changes to the UBE3A gene, located on chromosome 15. People have two copies of the UBE3A gene, one they inherit from their mother and one from their father. The mother’s copy is normally turned on in the brain while the father’s copy is turned off. If a child has a change that causes the mother’s copy to be turned off, they will have no working copies and will then have AS. Most cases of AS are due to a child missing their mother’s copy of UBE3A (deletion). In some cases, the child has a change (mutation) in the mother’s copy of UBE3A; and in others, a child inherits both copies of UBE3A from their father and none from their mother (uniparental disomy).

Symptoms of AS are usually not present until 6 months of age. Trouble with crawling and talking are usually the first signs of developmental delay. Seizures appear around age 2. A diagnosis of AS is normally confirmed with genetic testing. There is not a cure for AS, but therapies are available to help a child reach their developmental potential. There are also medications to help control seizures. If your child has been diagnosed with AS, talk to their doctor about the most current treatment options. Support groups can connect you with other families affected by AS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman Syndrome through education, information, support, advocacy and research.

Last Updated: 9 Nov 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman Syndrome through education, information, support, advocacy and research.

http://www.angelman.org

Last Updated: 9 Nov 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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General Support Organizations

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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 "Angelman syndrome" returned 137 free, full-text research articles on human participants. First 3 results:

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.
 

Author(s): Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber

Journal: Horm Res Paediatr. 2018 ;89(3):205-210.

 

Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with ...

Last Updated: 31 Dec 1969

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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.
 

Author(s): Kathryn R Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A Hunter, Meagan Cross, Matthew I Bellgard

Journal:

 

Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating ...

Last Updated: 31 Dec 1969

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[Neuropsychiatric phenotype of Angelman syndrome and clinical care: report of seven cases].
 

Author(s): Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García

Journal: Arch Argent Pediatr. 2017 04;115(2):e99-e103.

 

Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual ...

Last Updated: 31 Dec 1969

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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 "Angelman syndrome" returned 15 free, full-text review articles on human participants. First 3 results:

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
 

Author(s): Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart

Journal:

 

Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is ...

Last Updated: 31 Dec 1969

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Unmet clinical needs and burden in Angelman syndrome: a review of the literature.
 

Author(s): Anne C Wheeler, Patricia Sacco, Raquel Cabo

Journal:

 

Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication ...

Last Updated: 31 Dec 1969

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Potential therapeutic approaches for Angelman syndrome.
 

Author(s): Xiaoning Bi, Jiandong Sun, Angela X Ji, Michel Baudry

Journal: Expert Opin. Ther. Targets. 2016 ;20(5):601-13.

 

Angelman syndrome (AS) is a neurodevelopmental disorder caused by deficiency of maternally inherited UBE3A, an ubiquitin E3 ligase. Despite recent progress in understanding the mechanism underlying UBE3A imprinting, there is no effective treatment. Further investigation of the roles ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Angelman Syndrome Italian Registry
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 27 Aug 2018

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Nutritional Formulation for Angelman Syndrome
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 21 Aug 2018

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SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
 

Status: Recruiting

Condition Summary: 22q11 Deletion Syndrome; DiGeorge Syndrome; Trisomy 21; Trisomy 18; Trisomy 13; Monosomy X; Sex Chromosome Abnormalities; Cri-du-Chat Syndrome; Angelman Syndrome; Prader-Willi Syndrome; 1p36 Deletion Syndrome

 

Last Updated: 20 Sep 2017

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