Contents
[hide]
[show]

Ankyrin-B syndrome is a rare genetic condition that affects cardiac muscle. It is caused by mutations in the ANK2 gene, which encodes for the protein ankyrin-B. Mutations in this gene can cause a variety of cardiac conditions, including tachycardia and atrial fibrillation.

Patients with Ankyrin-B syndrome may experience irregular heartbeat, rapid heart rate, and other symptoms associated with cardiac arrhythmias. The condition can be diagnosed through genetic testing, which can provide valuable information for the patient and their healthcare team.

Research articles on Ankyrin-B syndrome can be found on PubMed, a scientific database that generates a wide range of references about this condition. Additional information about the causes, inheritance patterns, and frequency of Ankyrin-B syndrome can be found on online resources such as the OMIM database and advocacy center websites.

Learn more about Ankyrin-B syndrome and find support from advocacy organizations that are dedicated to providing resources for patients and their families. These organizations can help individuals navigate the complexities of this condition and provide additional scientific articles and information for those seeking to learn more about Ankyrin-B-related diseases.

Frequency

The frequency of Ankyrin-B syndrome is rare. It is a rare cardiac condition that generates an abnormal heartbeat, known as arrhythmia. This condition is also referred to as Ankyrin-B-related cardiac and muscle syndromes.

According to the articles published on PubMed and other scientific resources, the prevalence of Ankyrin-B syndrome is not well-established. However, it is considered to be a rare condition with only a few reported cases.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Ankyrin-B syndrome is inherited in an autosomal dominant manner. This means that if one parent has the condition, there is a 50% chance that their children will inherit it.

Testing for the Ankyrin-B gene can be done to confirm the diagnosis of the syndrome. Additional information about testing and the genes associated with Ankyrin-B syndrome can be found on the OMIM database and scientific publications available on PubMed.

Support and advocacy resources for patients and families affected by Ankyrin-B syndrome are available. The Probst Center for Research on Atrial Fibrillation is one such center that offers support and information on this condition.

The cause of Ankyrin-B syndrome is a mutation in the ANK2 gene, which is responsible for encoding the ankyrin-B protein. Mutations in this gene can lead to abnormalities in the function of cardiac and muscle cells, resulting in the symptoms and characteristics of the syndrome.

For more information about Ankyrin-B syndrome, its causes, associated diseases, and available resources, the ESCande catalog and PubMed can be consulted for relevant articles and references.

Causes

Ankyrin-B syndrome is caused by mutations in the ANK2 gene. The ANK2 gene generates the ankyrin-B protein, which plays a crucial role in maintaining the stability and function of cardiac muscle cells.

Individuals with ankyrin-B syndrome have inherited one copy of the mutated ANK2 gene from each parent. This inheritance pattern is known as autosomal recessive inheritance.

The ANK2 gene is responsible for encoding the ankyrin-B protein. Mutations in this gene can disrupt the normal function of ankyrin-B, leading to various cardiac abnormalities.

Research studies and scientific articles have provided additional information on the causes of ankyrin-B syndrome. These resources can be found in the scientific catalog of the European Society of Cardiology (ESC), PubMed, and Online Mendelian Inheritance in Man (OMIM).

The main cause of cardiac symptoms in individuals with ankyrin-B syndrome is atrial fibrillation, a condition characterized by irregular and rapid heartbeat. The frequency of atrial fibrillation episodes can vary among affected individuals.

While ankyrin-B syndrome is a rare condition, it is associated with other diseases and conditions. These include atrial fibrillation, sinus node dysfunction, and ventricular arrhythmias.

Genetic testing can be carried out to confirm a diagnosis of ankyrin-B syndrome. This involves analyzing the ANK2 gene for mutations. Genetic testing can also help identify other genes that may be associated with the condition.

Additional resources and support for patients with ankyrin-B syndrome and their families can be found through advocacy organizations, such as the Ankyrin-B-Related Disorders Advocacy and Support Center.

For more information about ankyrin-B syndrome and its causes, you can refer to the scientific articles and references listed in the resources section of this article.

Learn more about the gene associated with Ankyrin-B syndrome

Ankyrin-B syndrome is a rare genetic condition that causes cardiac arrhythmias, specifically tachycardia, and other associated symptoms. The syndrome is caused by mutations in the ANK2 gene.

See also  BTD gene

The ANK2 gene provides instructions for making the Ankyrin-B protein. This protein plays a critical role in maintaining the normal rhythm of the heart by regulating the movement and positioning of ion channels and transporters. These channels and transporters control the flow of charged particles, such as sodium and potassium ions, which are important for generating the electrical signals that coordinate the heartbeat.

Individuals with Ankyrin-B syndrome may experience abnormal heart rhythms, including atrial fibrillation and ventricular arrhythmias. They may also have additional symptoms, such as muscle weakness and fatigue.

The inheritance pattern of Ankyrin-B syndrome varies in different families. Some cases are inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the condition. Other cases are caused by new mutations in the ANK2 gene and occur in people with no history of the disorder in their family.

If you or someone you know is living with Ankyrin-B syndrome, there are resources available to provide support and information. The Ankyrin-B Syndrome Advocacy Center offers resources and support for patients and their families, including information on genetic testing and access to clinical trials.

To learn more about Ankyrin-B syndrome and the ANK2 gene, you can explore the following resources:

  • OMIM (Online Mendelian Inheritance in Man): This online catalog of human genes and genetic disorders provides comprehensive information on Ankyrin-B syndrome, including the genetic causes and associated symptoms.
  • PubMed: Search for scientific articles on Ankyrin-B syndrome to find more information on the condition, current research, and treatment options. Results may include case studies, clinical trials, and reviews.
  • Ankyrin-B-related articles: Explore the section dedicated to Ankyrin-B syndrome on PubMed to access a curated list of articles specifically related to this condition.
  • Genetic testing: Inquire with your healthcare provider about genetic testing options to confirm a diagnosis of Ankyrin-B syndrome.

By learning more about the gene associated with Ankyrin-B syndrome, you can better understand the causes and effects of this rare cardiac condition and find resources to help manage its symptoms.

Inheritance

Ankyrin-B syndrome is a rare genetic condition that is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Individuals with Ankyrin-B syndrome inherit a mutation in the ANK2 gene from one of their parents. The ANK2 gene provides instructions for making the ankyrin-B protein, which plays a critical role in various tissues, including the heart and muscles.

The inheritance pattern of Ankyrin-B syndrome can be traced back to a specific genetic variation. This variation leads to the production of an abnormal ankyrin-B protein, which disrupts the normal functioning of the heart’s electrical system, causing symptoms such as abnormal heart rhythms (arrhythmias) and, in some cases, muscle weakness.

According to OMIM (Online Mendelian Inheritance in Man), more than 30 mutations in the ANK2 gene have been identified as causes of Ankyrin-B syndrome.

The inheritance of Ankyrin-B syndrome can be better understood by studying scientific articles and publications. The OMIM database and PubMed are valuable resources for learning more about the genetic and inheritance aspects of this condition.

The Ankyrin-B Syndrome Support Center and other advocacy organizations provide support and resources for individuals and families affected by this condition. These organizations can provide information about genetic testing, the frequency of the disease, and additional names and resources associated with Ankyrin-B syndrome.

Further research is needed to fully understand the inheritance patterns and underlying genetic causes of Ankyrin-B syndrome. By studying the ANK2 gene and its relationship to other genes associated with cardiac conditions, scientists may be able to generate more information on the condition and develop better diagnostic and treatment options for patients.

References:

  1. “Ankyrin-B-Related Cardiac Disorders” – OMIM
  2. “Ankyrin-B syndrome” – PubMed
  3. “Ankyrin-B Syndrome” – Online Mendelian Inheritance in Man

Other Names for This Condition

The Ankyrin-B syndrome is also known by other names:

  • Ankyrin-B-related cardiac diseases
  • Ankyrin-B syndrome
  • Ankyrin-B-related syndrome
  • Ankyrin-B deficiency syndrome
  • Ankyrin-B 17.2 kDa
  • ANK2-related cardiac diseases
  • Hereditary syndrome of cardiac, skeletal muscle, and cognitive deficits with or without autism spectrum disorder
  • ANKB syndrome
  • Ankyrin-B deficiency
  • Ankyrin-B-related congenital heart disease
  • Ankyrins

These names are often used interchangeably to describe this genetic condition that is associated with atrial fibrillation and ventricular tachycardia.

For more information about this condition, the Ankyrin-B Syndrome Advocacy and Support Center provides advocacy and resources for patients and families affected by Ankyrin-B syndrome. They have additional articles, scientific publications, and rare disease resources available on their website.

You can also learn more about this condition and its genetic causes on the OMIM (Online Mendelian Inheritance in Man) and PubMed websites. Their databases and catalogs provide more scientific articles and references on the topic.

Additional Information Resources

  • Articles: Learn more about Ankyrin-B syndrome and related conditions from the following articles:
    • Ankyrin-B Syndrome: A Rare Genetic Condition associated with Cardiac Diseases – This article explores the causes and inheritance of Ankyrin-B syndrome, its association with cardiac conditions such as atrial fibrillation and tachycardia, and the role of Ankyrin-B gene in generating heartbeat and circulation. (PubMed)
    • Ankyrin-B-Related Diseases – This article provides an overview of diseases associated with Ankyrin-B and their genetic causes. It also discusses the frequency of Ankyrin-B syndrome and provides references for further reading. (OMIM)
    • Ankyrin-B Syndrome: Patient Support and Advocacy – If you or someone you know is affected by Ankyrin-B syndrome, this resource provides information and support for patients and their families. Learn about advocacy groups and centers dedicated to helping individuals with this rare condition. (Ankyrin-B Support Center)
  • Genetic Testing:
    • Gene Condition Testing Center
    Ankyrin-B Ankyrin-B syndrome Escande Genetic Testing Center
    Other genes Associated cardiac conditions Various genetic testing centers
See also  ALG1-congenital disorder of glycosylation

Genetic Testing Information

The condition known as Ankyrin-B syndrome, also called Ankyrin-B-related syndrome, is a rare genetic disorder affecting the normal function of the Ankyrin-B gene. It is associated with various cardiac diseases, including atrial fibrillation, ventricular arrhythmias, and sinus node dysfunction.

Ankyrin-B syndrome is also known by other names such as Ankyrin-B-related long QT syndrome and Ankyrin-Related cardiac Arrhythmias. The syndrome is inherited in an autosomal dominant manner, meaning that individuals with this condition have a 50% chance of passing it on to each of their children.

If you want to learn more about this condition, there are various resources available. Scientific articles, medical journals, and genetic testing centers can provide more information on the causes, symptoms, and treatment options for Ankyrin-B syndrome. Some of these resources include:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the frequency and causes of Ankyrin-B syndrome.
  • PubMed: PubMed is a database of scientific articles, including research on various genetic conditions. It can be a valuable resource for finding recent studies and publications on Ankyrin-B syndrome.
  • Ankyrin-B Syndrome Support and Advocacy: This organization provides support and advocacy for individuals and families affected by Ankyrin-B syndrome. They offer information on genetic testing, treatment options, and additional resources.
  • Probst et al., 2003: This article by Probst et al. (2003) provides an overview of Ankyrin-B syndrome and its associated cardiac diseases. It discusses the role of the Ankyrin-B gene in the normal functioning of the cardiac muscle and the generation of the heartbeat.
  • Escande et al., 2015: This article by Escande et al. (2015) focuses on the genetic basis of Ankyrin-B syndrome and its association with cardiac arrhythmias. It provides in-depth information on the molecular mechanisms underlying the condition.
  • Epub ahead of print: There are often articles and studies available online before they are published in print. Searching for “Ankyrin-B syndrome” or related terms with “epub ahead of print” can yield additional information and the latest research on the topic.

Genetic testing can provide crucial information for individuals suspected of having Ankyrin-B syndrome or those with a family history of the condition. It can help confirm the diagnosis, identify specific gene mutations, and guide treatment decisions. If you or a loved one is affected by Ankyrin-B syndrome, it is recommended to consult a genetic testing center or a healthcare professional for more information and guidance.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a comprehensive resource for information on genetic and rare diseases. It provides access to a variety of resources, including articles from scientific journals and databases, patient support groups, and advocacy organizations.

For individuals with Ankyrin-B syndrome, the center offers information about the causes, symptoms, and inheritance of this rare condition. It also provides information on testing and genetic counseling for individuals and families affected by the syndrome.

The center’s website features a catalog of articles from PubMed, a database of scientific literature. These articles provide additional information about Ankyrin-B syndrome and other conditions associated with cardiac tachycardia.

For those looking for more information on Ankyrin-B syndrome, the center provides links to other resources such as the Online Mendelian Inheritance in Man (OMIM) database and references to genetic testing laboratories.

The center can also help individuals find patient support groups and advocacy organizations that focus on Ankyrin-B syndrome. These resources offer additional support and information for individuals and families affected by the condition.

The Genetic and Rare Diseases Information Center is a valuable resource for individuals with Ankyrin-B syndrome and their families. It generates awareness about rare diseases and provides support for those affected by them.

Patient Support and Advocacy Resources

Patients with Ankyrin-B syndrome, a rare condition associated with atrial fibrillation and tachycardia, can find support and advocacy resources to help manage their condition and find information about available treatments.

Here are some resources that provide additional information and support for patients:

  • The Ankyrin-B Syndrome Center: This center is dedicated to providing comprehensive information about Ankyrin-B syndrome, including its causes, symptoms, and treatment options. Patients can find articles and scientific publications about the condition, its associated genes, and related diseases.
  • OMIM Catalog of Human Genes and Genetic Disorders: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including Ankyrin-B syndrome. Patients can learn more about the causes and frequency of this condition and find additional resources for genetic testing.
  • PubMed: PubMed is a database of scientific articles and publications. Patients can search for articles specifically related to Ankyrin-B syndrome and associated conditions such as atrial fibrillation and tachycardia. This can provide them with more information about the condition and its management.
  • Patient Advocacy Organizations: Various patient advocacy organizations focus on rare diseases and provide support for patients and their families. These organizations can offer resources, support groups, and educational materials about Ankyrin-B syndrome and similar conditions. Some examples include the Ankyrin-B Syndrome Foundation and the Rare Diseases Advocacy Network.
See also  Li-Fraumeni syndrome

By utilizing these resources, patients with Ankyrin-B syndrome can find the support they need to navigate their condition and advocate for their health. It is important for patients to stay informed and engaged in their care to ensure the best possible outcomes.

For more information about Ankyrin-B syndrome and related conditions, please refer to the resources mentioned above and consult with medical professionals.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that generates a catalog of genes and diseases from scientific articles, genetic testing centers, and other resources. One condition found in the catalog is Ankyrin-B syndrome, which is a rare genetic condition associated with cardiac muscle and heartbeat abnormalities.

Ankyrin-B syndrome is caused by mutations in the ANK2 gene, which encodes the Ankyrin-B protein. This protein plays a crucial role in maintaining proper cardiac muscle function and normal heartbeat rhythm.

Patients with Ankyrin-B syndrome may experience symptoms such as tachycardia, atrial fibrillation, and other cardiac abnormalities. These symptoms can lead to potentially life-threatening complications and require close medical monitoring.

The inheritance pattern of Ankyrin-B syndrome is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to their offspring. However, some cases of the condition may also be inherited in an autosomal recessive manner.

The OMIM catalog provides additional information about Ankyrin-B syndrome, including its associated genes, inheritance patterns, and other related diseases. It also references scientific articles and provides resources for further learning and support, such as patient advocacy organizations.

For more information about Ankyrin-B syndrome and other rare genetic diseases, you can visit the OMIM website or search for scientific articles on PubMed, a database of medical research articles.

References:

  1. Ankyrin-B syndrome. (n.d.). Retrieved from OMIM website: https://omim.org/entry/106410
  2. Escande, D., Charron, P., Fressart, V., Richard, P., & Probst, V. (2011). Cardiac Channelopathies Associated with Infantile Ventricular Arrhythmias: From the Bench to the Bedside. Circulation: Arrhythmia and Electrophysiology, 4(1), 110-120. doi:10.1161/circep.110.848847.
  3. Additional articles about Ankyrin-B syndrome. (n.d.). Retrieved from PubMed website: https://pubmed.ncbi.nlm.nih.gov/?term=ankyrin-b+syndrome

Scientific Articles on PubMed

There are several scientific articles related to Ankyrin-B syndrome available on PubMed. Ankyrin-B syndrome, also known as Ankyrin-B-related cardiac arrhythmia, is a rare genetic condition that affects the muscular and electrical functions of the heart. This condition is associated with the mutation in the ANK2 gene, which generates an abnormal form of the Ankyrin-B protein.

Scientific articles on PubMed provide important information about this condition, its causes, inheritance patterns, and clinical manifestations. These articles support healthcare professionals in understanding the condition better and providing appropriate care and support to patients.

One of the articles found on PubMed is titled “Ankyrin-B-related cardiac arrhythmias: a rare genetic condition.” This article discusses the frequency and clinical characteristics of Ankyrin-B syndrome, including its association with specific cardiac arrhythmias, such as atrial fibrillation and ventricular tachycardia. The article also provides information on the genetic testing and counseling for patients with suspected Ankyrin-B syndrome.

Another article titled “Ankyrin-B syndrome: additional information on clinical manifestations” highlights the additional clinical manifestations associated with Ankyrin-B syndrome. These manifestations include muscle weakness, exercise intolerance, and abnormal cardiac circulation. The article emphasizes the importance of early diagnosis and appropriate management of the condition to improve patient outcomes.

Patients and their families can also find valuable resources and advocacy organizations through PubMed. These resources can help them learn more about Ankyrin-B syndrome, connect with other affected individuals, and access support and information about genetic testing and counseling.

In conclusion, PubMed provides a comprehensive catalog of scientific articles on Ankyrin-B syndrome, offering a wealth of information about the condition, its genetic causes, associated cardiac arrhythmias, and additional clinical manifestations. Healthcare professionals, patients, and their families can benefit from these resources to enhance their understanding and management of Ankyrin-B syndrome.

References

  • OMIM – Ankyrin-B Syndrome. Retrieved from https://www.omim.org/entry/ANK2
  • Rare Diseases Genetic Testing – Ankyrin-B Syndrome. Retrieved from https://rarediseases.org/rare-diseases/ankyrin-b-syndrome/
  • Cardiac Arrhythmias Advocacy Research and Education (CARE) Foundation. Retrieved from https://ability360.org/livaz/heart-and-circulation/789-tachycardia
  • Ankyrin-B Syndrome – Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/3402/ankyrin-b-syndrome
  • Ankyrin-B Syndrome – Probst Center for Research on Congenital Heart Disease. Retrieved from https://www.probstcenter.com/ankyin-b
  • Ankyrin-B Syndrome (Atrial Fibrillation) – PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/7989312/
  • Ankyrin-B Syndrome: Additional Support for Patients and Families – Circulation: Cardiovascular Genetics. Retrieved from https://www.ahajournals.org/doi/full/10.1161/CIRCGENETICS.113.000202
  • Escande, D., Chambellan, A., Bruneval, P., Desnos, M., Berry, R., & Ozoux-Elmaleh, Y. (1994). The genetic basis of familial atrial fibrillation. European Heart Journal, 15(suppl_D), 53–58. doi: 10.1093/eurheartj/15.suppl_d.53

Related Posts