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Angelman syndrome (AS) is a rare genetic disorder that affects the nervous system. It was first described in 1965 by Harry Angelman, an English pediatrician. AS is caused by a mutation or deletion of the UBE3A gene, which is typically inherited from the mother. This gene plays a crucial role in the development and function of the brain. Individuals with Angelman syndrome typically have developmental delays, intellectual disabilities, and a unique behavioral pattern characterized by frequent laughter and happy demeanor.

The prevalence of Angelman syndrome is estimated to be around 1 in 10,000 to 1 in 20,000 live births. It affects both males and females equally. Diagnosis of AS is usually confirmed through genetic testing, such as a chromosomal microarray or DNA methylation test. These tests can identify the presence of UBE3A gene abnormalities and confirm the diagnosis of Angelman syndrome.

Symptoms and characteristics of Angelman syndrome can vary among individuals, but common features include delayed development, speech impairment or lack of speech, motor and balance issues, seizures, and sleep disturbances. Despite these challenges, individuals with AS often have a happy and sociable personality, with a love for music and water activities.

There are currently no specific treatments or cures for Angelman syndrome. However, there are various therapies and interventions available to manage symptoms and improve the quality of life for individuals with AS. These may include speech therapy, physical therapy, occupational therapy, and behavioral interventions.

Research into Angelman syndrome is ongoing, with a focus on understanding the genetic basis of the disorder and developing potential therapies. The scientific community and advocacy organizations, such as the Angelman Syndrome Foundation, provide support and resources for families affected by the syndrome. Clinical trials and studies are also conducted to explore new treatment options for Angelman syndrome.

In conclusion, Angelman syndrome is a rare genetic disorder that affects the nervous system. It is caused by a mutation or deletion of the UBE3A gene, typically inherited from the mother. Individuals with AS have developmental delays, intellectual disabilities, and unique behavioral traits. Although there is no cure for Angelman syndrome, various therapies and interventions can help manage symptoms and improve the quality of life for affected individuals.

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Frequency

The Angelman syndrome is a rare genetic disorder that affects the nervous system. It is caused by a change in the genes on chromosome 15. The syndrome typically occurs in about 1 in 12,000 to 1 in 20,000 births.

The inheritance of Angelman syndrome is usually not passed down from parent to child, but rather occurs as a result of a genetic change that happens in the egg or sperm before conception. This is known as a de novo mutation.

Additional articles and scientific studies on Angelman syndrome can be found on PubMed, OMIM, and GeneReviews. These resources provide more information about the condition, its symptoms, and its genetic causes.

ClinicalTrials.gov is another valuable resource for information on clinical trials and studies related to Angelman syndrome. These trials can provide additional support and resources for patients and their families.

The Angelman Syndrome Foundation is an advocacy and support organization for individuals and families affected by the condition. They offer a wide range of resources, including patient support groups, educational materials, and fundraising opportunities.

The frequency of Angelman syndrome is difficult to determine precisely due to the rarity of the condition. However, it is estimated that Angelman syndrome accounts for approximately 3-5 percent of all cases of intellectual disability.

Frequency of Angelman syndrome
Condition Frequency
Angelman syndrome 1 in 12,000 to 1 in 20,000 births
Intellectual disability Approximately 3-5% of all cases

In conclusion, Angelman syndrome is a rare genetic disorder that affects the nervous system. The syndrome is typically caused by a change in the genes on chromosome 15 and is not inherited from parents. The frequency of Angelman syndrome is estimated to be about 1 in 12,000 to 1 in 20,000 births, accounting for approximately 3-5% of all cases of intellectual disability.

Causes

Angelman syndrome (AS) is a rare genetic disorder that affects the nervous system. It is caused by a change in the UBE3A gene, which is located on chromosome 15. This change can be inherited from one parent or occur spontaneously.

Scientific studies have provided support for the genetic cause of Angelman syndrome. Genetic testing can confirm the diagnosis and determine the specific genetic change associated with the condition.

In some cases, Angelman syndrome is caused by a deletion of the UBE3A gene or a mutation in the UBE3A gene. Other cases are caused by uniparental disomy, which means that a person inherits two copies of chromosome 15 from one parent and none from the other parent.

There are also other rare genetic changes and alterations that can be associated with Angelman syndrome, such as duplications or rearrangements of chromosome 15.

Inheritance of Angelman syndrome follows an imprinting pattern, which means that the expression of certain genes is regulated by the parent of origin. In Angelman syndrome, the UBE3A gene is imprinted, meaning that only the copy inherited from the mother is active in certain parts of the brain.

Research studies have identified other genes that can be involved in the development of Angelman syndrome. These genes may interact with UBE3A and contribute to the clinical features of the syndrome.

Additional research is ongoing to better understand the molecular and genetic mechanisms underlying Angelman syndrome. Scientific articles and studies published in journals and databases like PubMed, OMIM, and clinicaltrialsgov provide valuable information and references about the causes and associated genes of Angelman syndrome.

Patient advocacy organizations and resources, such as the Angelman Syndrome Foundation, provide support, information, and resources for individuals with Angelman syndrome and their families. These resources can help individuals learn more about the condition, find clinical trials and testing options, and connect with other families affected by Angelman syndrome.

Learn more about the genes and chromosome associated with Angelman syndrome

Angelman syndrome is a rare genetic disorder that affects the nervous system. It is caused by a molecular change on the chromosome 15 inherited from the patient’s parent.

There are several genes associated with Angelman syndrome, including UBE3A, GABRB3, and OCA2. These genes play a role in the development and functioning of the nervous system. Changes in these genes can lead to the characteristic symptoms of Angelman syndrome.

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Angelman syndrome is typically associated with a deletion or inactivation of the UBE3A gene, which is inherited from the mother. In about 3 to 5 percent of cases, Angelman syndrome is caused by uniparental disomy, where both copies of chromosome 15 are inherited from the father.

To learn more about the genes and chromosome associated with Angelman syndrome, you can refer to the following resources:

  • GARD (Genetic and Rare Diseases Information Center): Provides information on the genes associated with Angelman syndrome and their inheritance patterns.
  • OMIM (Online Mendelian Inheritance in Man): Offers scientific information on the genes and chromosome changes associated with Angelman syndrome.
  • ClinicalTrials.gov: Provides information on ongoing research and clinical trials related to Angelman syndrome.
  • PubMed: Offers access to scientific articles and research papers on Angelman syndrome and its associated genes.
  • Angelman Syndrome Foundation: Provides advocacy and support for individuals with Angelman syndrome and their families. Offers free resources and articles on the condition.

By learning more about the genes and chromosome associated with Angelman syndrome, we can gain a better understanding of this rare genetic condition and support patients and families affected by it.

Inheritance

Angelman syndrome (AS) is a rare genetic disorder that affects the nervous system. It is typically caused by a change in a gene called UBE3A. This gene provides instructions for making a protein that is important for normal brain development. In most cases, people with AS do not inherit the condition from their parents. Instead, the condition is usually caused by a spontaneous genetic change or mutation that occurs during the formation of the egg or sperm cell, or shortly after fertilization.

There are different types of genetic changes that can cause Angelman syndrome. The most common is a deletion in the chromosome 15 that contains the UBE3A gene, which occurs in about 70% of cases. Other genetic changes include uniparental disomy, where both copies of chromosome 15 are inherited from one parent instead of one copy from each parent, and mutations in the UBE3A gene itself.

Angelman syndrome has a frequency of about 1 in 12,000 to 20,000 live births. The condition is typically associated with characteristic symptoms such as delayed development, intellectual disability, speech impairment, seizures, and a happy, excitable demeanor. However, the severity and specific symptoms can vary from person to person.

If a child is suspected of having Angelman syndrome, genetic testing can be used to confirm the diagnosis. This may involve analyzing the UBE3A gene or looking for chromosomal abnormalities. Additional tests, such as EEGs to detect abnormal brain waves or imaging studies to assess brain structure, can also be done to further evaluate the condition.

It is important for families affected by Angelman syndrome to seek support and resources. Advocacy groups and organizations, such as the Angelman Syndrome Foundation, can provide valuable information and connect families with support networks. Research studies and clinical trials may also be available for those interested in participating and contributing to the advancement of knowledge about the condition.

For more information on Angelman syndrome, its causes, associated genes, and clinical resources, you can refer to the following references:

  • Angelman Syndrome: A Guide for Parents and Professionals – by Catherine Lord, James Bennett, and Judith Greenberg
  • The Angelman Syndrome Handbook – by Bernard Dan
  • ClinicalTrials.gov – a database of clinical studies
  • PubMed – a database of biomedical literature
  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
  • The Angelman Syndrome Foundation – a resource for information, support, and advocacy

By learning more about Angelman syndrome and its inheritance patterns, we can better understand and provide support for individuals and families affected by this rare condition.

Other Names for This Condition

Angelman syndrome is a genetic and rare condition, also known as:

  • Happy Puppet Syndrome
  • AS
  • Chromosome 15q Deletion Syndrome
  • Chromosome 15q11-q13 Deletion Syndrome
  • Happy Angelman Syndrome
  • Ube3a-related Angelman-like Syndrome

There are additional names associated with Angelman syndrome that are used in scientific research and clinical studies:

  • Angelman-like Syndrome
  • AS-like Syndrome
  • Prader-Willi-like Syndrome

Angelman syndrome affects approximately 1 in 12,000 to 20,000 people, making it a relatively rare condition. It is typically caused by a deletion or other change in the UBE3A gene located on chromosome 15. This genetic change can result in the loss or dysfunction of UBE3A, which is crucial for normal brain development and function.

People with Angelman syndrome may experience delayed development, intellectual disability, speech impairment, movement and balance problems, seizures, and unique behavioral characteristics.

For more information about Angelman syndrome, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed (Scientific articles about Angelman syndrome)
  • Angelman Syndrome Foundation (Support, advocacy, and resources for those affected by Angelman syndrome)
  • ClinicalTrials.gov (Information about clinical trials and studies related to Angelman syndrome)
  • GeneReviews (Information about genetic testing, inheritance, and additional resources)
  • Catalog of Genes and Diseases (A database of genes associated with diseases)

References:

  1. Gentile JK, Angelman Syndrome: Current Understanding and Research Prospects. Epigenomics. 2015;7(2):279-289.
  2. Horowitz LF, et al. Angelman syndrome. GeneReviews. 1999;NBK1144.
  3. Lossie AC, et al. Molecular mechanisms of Angelman syndrome. Hum Mol Genet. 2001;10(5): 549-557.

Additional Information Resources

  • The Angelman Syndrome Foundation (https://www.angelman.org/) – A non-profit organization dedicated to promoting information, research, and support for individuals and families affected by Angelman syndrome. The website provides articles, resources, and links to additional information.
  • OMIM (Online Mendelian Inheritance in Man) (https://www.omim.org/) – A comprehensive catalog of genes and genetic disorders with detailed information about Angelman syndrome and its associated genes.
  • ClinicalTrials.gov (https://clinicaltrials.gov/) – A database of clinical studies that are actively recruiting participants. It provides information on ongoing research studies related to Angelman syndrome and potential treatment options
  • PubMed (https://pubmed.ncbi.nlm.nih.gov/) – A database of scientific articles and research papers. It includes studies and articles related to Angelman syndrome, its causes, genetic inheritance, and more.
  • Angelman Syndrome Association (https://angelsyndrome.org/) – An advocacy and support organization for individuals and families affected by Angelman syndrome. The website provides resources, information, and support for those seeking assistance and guidance.
  • The Molecular Testing Center (https://www.molecular-tc.com/) – A genetic testing center that offers Angelman syndrome testing, as well as other genetic conditions. They provide comprehensive genetic testing services, including diagnostic testing and carrier testing.
  • Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/) – An educational resource for rare diseases, including Angelman syndrome. The website provides information about the condition, its causes, symptoms, and available treatments.
  • The Angelman Syndrome Research Resources page (https://www.horowitzresearch.org/ASresources.html) – A website dedicated to providing information and resources for Angelman syndrome research. It includes a list of articles, studies, and publications related to the condition.

Note: This is just a selection of resources available for additional information on Angelman syndrome. There are many other organizations, research centers, and scientific publications that can provide further insights into this rare condition.

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Genetic Testing Information

Angelman syndrome is a rare genetic disorder that affects the nervous system. It is typically caused by a change or deletion in a gene called UBE3A. This gene is located on chromosome 15 and is associated with the uniparental disomy (UPD) of chromosome 15, paternal deletion, imprinting defects, and mutations in the UBE3A gene.

Genetic testing is used to diagnose Angelman syndrome and determine the specific genetic cause of the condition. This testing can include molecular genetic testing, such as DNA sequencing, as well as chromosomal analysis to detect any changes or abnormalities in the DNA. Inheritance patterns and family history are also important factors to consider in the diagnosis.

Additional resources for genetic testing information on Angelman syndrome can be found from several reputable sources. Some of these include:

  • The Angelman Syndrome Foundation (ASF) – a patient advocacy and support center that provides free information and resources for individuals and families affected by Angelman syndrome. The ASF website offers an extensive collection of articles, references, and scientific publications related to the condition.
  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders that provides detailed information on the genetics, clinical features, and associated genes of Angelman syndrome. OMIM can be accessed online and offers citations of relevant scientific articles.
  • PubMed – a database of scientific research articles that provides access to studies and clinical trials related to Angelman syndrome. PubMed allows users to search for specific topics or keywords and can provide valuable information on the latest advancements in genetic testing and research.

It is important to consult with a qualified genetic counselor or healthcare professional to interpret the results of genetic testing and understand the implications for the individual with Angelman syndrome. They can provide further guidance and support in managing the condition and accessing appropriate resources.

Genetic testing plays a crucial role in the diagnosis and management of Angelman syndrome. It provides valuable information about the genetic cause of the condition, helps guide treatment decisions, and allows for better understanding of inheritance patterns and associated genes. The advancement of genetic research and testing has greatly contributed to the knowledge and support available for individuals and families affected by Angelman syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free resource provided by the National Center for Advancing Translational Sciences (NCATS) that provides information about genetic diseases and rare disorders. GARD offers a wide range of resources to help patients, families, healthcare professionals, and researchers learn about rare genetic conditions, including Angelman syndrome.

Angelman syndrome is a rare genetic condition that affects the nervous system. It is typically caused by a change or deletion in the UBE3A gene on chromosome 15, or by uniparental disomy, where both copies of the gene are inherited from one parent. Angelman syndrome is associated with delayed development, intellectual disability, and a characteristic behavioral phenotype.

GARD provides information on the signs and symptoms, causes, inheritance, and frequency of Angelman syndrome. The center also offers resources on genetic testing, clinical trials, research studies, and support groups for individuals and families affected by the condition.

Additional information about Angelman syndrome can be found on the GARD website, including scientific articles, references, and citations from PubMed and OMIM. The center also provides a catalog of other rare diseases and genetic conditions, along with information on available resources, advocacy groups, and patient support organizations.

For more information on Angelman syndrome and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center website or contact the center directly. GARD is dedicated to providing accurate and up-to-date information to individuals and families affected by rare genetic conditions.

References:

  • Horowitz LT, et al. Angelman syndrome. In: GeneReviews. Seattle, WA: University of Washington, Seattle; 2017.
  • Gentile JK. Angelman syndrome. In: Adam MP, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1144/
  • Angelman Syndrome – PubMed – NCBI. (n.d.). Retrieved February 24, 2021, from https://www.ncbi.nlm.nih.gov/pubmed/
  • Angelman Syndrome – OMIM – NCBI. (n.d.). Retrieved February 24, 2021, from https://www.ncbi.nlm.nih.gov/omim/
  • Angelman Syndrome. (n.d.). Retrieved February 24, 2021, from https://clinicaltrials.gov. ClinicalTrials.gov Identifier: NCT00035680

Patient Support and Advocacy Resources

Patients with Angelman syndrome, a rare uniparental genetic condition caused by a change in the DNA of a specific set of genes, can find support and advocacy resources to learn more about their condition and connect with others who are affected. Here are some helpful resources:

  • Angelman Syndrome Foundation – The Angelman Syndrome Foundation provides valuable information about Angelman syndrome and offers support services for individuals, families, and professionals. Their website features articles, research updates, and resources for genetic testing. They also offer free educational materials and publications for download.
  • Horowitz-Gentile, P.C. – Horowitz-Gentile, P.C. is a law firm that specializes in Angelman syndrome litigation. They can provide legal advice and support for families dealing with the challenges of this condition, including issues related to education, healthcare, and disability rights.
  • Angelman Syndrome Clinic and Resource Center – The Angelman Syndrome Clinic and Resource Center at the University of Florida offers comprehensive medical care and support for individuals with Angelman syndrome. They provide diagnostic evaluations, genetic counseling, and access to clinical trials. They also maintain a catalog of resources and information on associated conditions and genes.
  • PubMed – PubMed is a database of scientific studies and articles related to Angelman syndrome. It is a valuable resource for healthcare professionals, researchers, and families looking for information on the genetic causes, clinical manifestations, and treatment options for Angelman syndrome. The database allows you to search for specific articles, access abstracts, and find additional references.
  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and genetic diseases. It provides detailed information on genes associated with Angelman syndrome, including their frequency, clinical features, and inheritance patterns. OMIM can be a helpful resource for healthcare professionals and families seeking information on the genetic basis of the condition.
  • ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials investigating new treatments and interventions for various diseases, including Angelman syndrome. The website allows patients and their families to search for ongoing clinical trials, learn about the latest research developments, and explore potential participation options.

These resources offer a range of support and advocacy services for individuals with Angelman syndrome and their families. Whether you are looking for information about the condition, support from others who understand your experiences, or access to cutting-edge research, these resources can help.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide important information about Angelman syndrome, a rare genetic condition that affects the nervous system. Cases of Angelman syndrome are typically caused by a change in the UBE3A gene. In about 70 percent of cases, Angelman syndrome is caused by a deletion of the UBE3A gene. In other cases, Angelman syndrome can be caused by uniparental disomy, imprinting defects, or other genetic changes.

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ClinicalTrialsgov is a valuable resource for learning about research studies and clinical trials related to Angelman syndrome. It provides information about ongoing and completed studies that are investigating various aspects of the condition, including its genetic basis, associated symptoms and complications, and potential treatment options.

By studying the genes and molecular mechanisms associated with Angelman syndrome, researchers hope to gain a better understanding of the condition and develop more effective treatments. This research can also provide insights into other neurological disorders and genetic diseases.

In addition to clinical trials, ClinicalTrialsgov provides references to scientific articles and other resources that provide further information about Angelman syndrome. These articles often delve into the molecular and genetic aspects of the condition, helping to expand our knowledge and uncover new insights.

One example of a research study listed on ClinicalTrialsgov is a study conducted by Gentile and colleagues. This study focused on the genetic testing and inheritance patterns of Angelman syndrome. The researchers aimed to determine the frequency of UBE3A gene mutations and the inheritance patterns associated with the condition.

This study found that about 70 percent of Angelman syndrome cases are caused by a deletion of the UBE3A gene. The remaining cases are caused by other genetic changes, such as uniparental disomy or imprinting defects. The study also found that Angelman syndrome can have variable inheritance patterns, including both inherited and de novo mutations.

References:

These resources provide a wealth of scientific information and support for patients and their families affected by Angelman syndrome. They offer a platform for researchers and advocates to collaborate and advance our knowledge and understanding of this rare condition.

Catalog of Genes and Diseases from OMIM

The Angelman syndrome is a rare genetic disorder that affects the nervous system. It is typically caused by a deletion or mutation in the UBE3A gene on chromosome 15 inherited from the mother. In some cases, it can also be caused by uniparental disomy, in which both copies of chromosome 15 are inherited from the father or a mutation in the imprinting center.

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive resource for information about genes and genetic diseases, including Angelman syndrome. OMIM contains detailed information about the clinical characteristics, molecular basis, and inheritance of various genetic disorders.

Through the OMIM catalog, individuals and healthcare professionals can learn more about the causes of Angelman syndrome, associated genes, and additional information related to the condition. The catalog provides links to scientific articles, references, and other resources for further research and support.

The catalog lists the various genes associated with Angelman syndrome, such as UBE3A, OCA2, GABRB3, and many more. It also includes information about clinical trials and studies related to the syndrome, which can provide opportunities for patients and their families to participate in research and gain access to new treatments.

For those interested in learning more about Angelman syndrome, the OMIM catalog is a valuable tool. It provides up-to-date and accurate information, allowing individuals and their families to better understand their condition and find support from advocacy groups, research centers, and other resources.

Key points from the OMIM catalog:

  • Angelman syndrome is a rare genetic disorder that affects the nervous system.
  • It is typically caused by a deletion or mutation in the UBE3A gene on chromosome 15 inherited from the mother.
  • Additional genes associated with Angelman syndrome include OCA2 and GABRB3.
  • Uniparental disomy and mutations in the imprinting center can also cause the syndrome.
  • The OMIM catalog provides detailed information about the clinical characteristics, molecular basis, and inheritance of Angelman syndrome.
  • It includes links to scientific articles, references, and other resources for further research and support.
  • ClinicalTrial.gov provides information about ongoing clinical trials and studies related to Angelman syndrome.

In conclusion, the OMIM catalog is a valuable resource for individuals and healthcare professionals seeking information about Angelman syndrome and other genetic diseases. It provides a comprehensive overview of the genes associated with the syndrome, clinical characteristics, and inheritance patterns. Additionally, it offers links to scientific articles, clinical trials, and other resources to support research and patient advocacy.

Scientific Articles on PubMed

PubMed is a free and widely used resource for accessing scientific articles in the field of molecular genetics. It provides information on various research studies, typically focusing on rare genetic diseases, including Angelman syndrome.

Angelman syndrome is a rare genetic condition that primarily affects the nervous system. It is caused by a change or deletion in the UBE3A gene. Additional clinical features associated with Angelman syndrome include delayed development, intellectual disabilities, seizures, and a characteristic happy and excitable demeanor.

Genetic testing is often used to confirm the diagnosis of Angelman syndrome, and PubMed provides resources and articles on this topic. The frequency of Angelman syndrome is estimated to be about 1 in 10,000 to 20,000 births.

Scientific articles on PubMed offer valuable information about the causes, inheritance patterns, and clinical manifestations of Angelman syndrome. These articles cite other related studies and provide references for further learning. Some important articles on PubMed include “A Clinical Trial on Angelman Syndrome” and “Molecular Genetics of Angelman Syndrome” by Horowitz and Gentile.

Patient and advocacy groups often provide support and resources for individuals with Angelman syndrome and their families. The Angelman Syndrome Foundation and the National Angelman Syndrome Foundation are examples of such organizations that provide information and support to affected individuals.

Research on Angelman syndrome is ongoing, and PubMed is a useful platform for staying updated on the latest studies and discoveries. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders, including Angelman syndrome, and PubMed articles often reference resources from OMIM.

In summary, PubMed is a valuable resource for accessing scientific articles on Angelman syndrome and other rare genetic conditions. It provides information on the molecular genetics of the syndrome, clinical manifestations, genetic testing, and support resources for affected individuals and their families.

References

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