Triple A syndrome – Austra Health

Triple A syndrome, also known as Allgrove syndrome, is a rare condition with unknown causes. It is characterized by the triad of adrenal insufficiency, achalasia, and alacrima. The syndrome was first described in 1978 by Allgrove et al., and since then, several studies have been conducted to understand its inheritance and genetic basis.

The ability to diagnose Triple A syndrome has improved with the advancements in genetic testing. The disease is associated with mutations in the AAAS gene located on chromosome 12q13, which codes for a protein called ALADIN. This protein is involved in the function of the cell nucleus and is thought to play a role in the transport of molecules within the cell.

There are several resources available for patients and their families to learn more about Triple A syndrome. The Triple A Syndrome Center and Advocacy Group provides support and information for affected individuals. Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed provide scientific articles and references on this rare condition.

ClinicalTrials.gov is another valuable resource for information on ongoing studies and clinical trials related to Triple A syndrome. These studies aim to further understand the causes and potential treatment options for this condition. With more scientific research and advocacy efforts, we hope to improve the quality of life for individuals with Triple A syndrome.

Frequency

The Triple A syndrome is a rare condition associated with damage to the nervous system. It is also known as Allgrove syndrome, AAA syndrome, or 3A syndrome.

The exact frequency of the Triple A syndrome is currently unknown. It is considered a rare condition, with only a few hundred cases reported in the medical literature. The frequency may vary among different populations and regions.

The Triple A syndrome is caused by mutations in a gene called AAAS (also known as the Aladin gene), which is located in the nucleus of cells. When this gene is mutated, it can affect the function of various systems in the body, including the nervous system.

Testing for the Triple A syndrome can be done through genetic testing to look for mutations in the AAAS gene. Additional testing may also be done to evaluate the function of the adrenal glands, which are often affected in individuals with this condition.

There are several resources available for individuals and families affected by the Triple A syndrome. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide information, resources, and support for those living with rare diseases.

Scientific articles and research studies on the Triple A syndrome can be found in databases such as PubMed and OMIM. These resources contain information on the genetics, clinical features, and inheritance patterns of the syndrome.

In addition, advocacy organizations and patient support groups can provide further information and support for individuals and families affected by the Triple A syndrome. These organizations may also provide information on ongoing clinical trials and research studies.

Causes

The exact causes of Triple A syndrome are not fully understood. However, research suggests that mutations in the AAAS gene are the main underlying cause for this condition.

Studies have found that mutations in the AAAS gene, which provides instructions for producing a protein called ALADIN, are responsible for the development of Triple A syndrome. These mutations disrupt the normal function of ALADIN, leading to the signs and symptoms associated with the syndrome.

Triple A syndrome is inherited in an autosomal recessive manner, which means that an affected individual inherits two copies of the mutated gene, one from each parent. Carriers of a single copy of the mutated gene are generally unaffected but can pass the gene on to their children. Genetic testing can help determine whether an individual carries the gene mutations associated with Triple A syndrome.

It is important to note that Triple A syndrome is a rare disorder, and the exact frequency of the condition in the general population is unknown. Additional research is needed to further understand the underlying genetic causes and mechanisms of Triple A syndrome.

Learn more about the gene associated with Triple A syndrome

Triple A syndrome, also known as Allgrove syndrome, is a rare genetic condition with an unknown cause. It is characterized by a triad of symptoms: adrenal insufficiency, alacrima (absence of tears), and achalasia (a condition that affects the ability to swallow food).

Research studies have shown that mutations in a gene called AAAS (Achalasia, Addisonianism, Alacrima Syndrome) are associated with Triple A syndrome. The AAAS gene provides instructions for making a protein called ALADIN, which is found in the nucleus of cells. The exact function of ALADIN is not fully understood, but it is believed to be involved in the maintenance and repair of the nervous system.

The frequency of AAAS gene mutations in Triple A syndrome patients is currently unknown. However, the condition is considered to be extremely rare, with fewer than 500 cases reported in the medical literature.

For additional information on Triple A syndrome and the AAAS gene, the following resources may be helpful:

National Organization for Rare Disorders (NORD): NORD provides a patient support and advocacy network for individuals with rare diseases. Their website offers information on Triple A syndrome and other rare genetic diseases.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for Triple A syndrome includes information on the AAAS gene and its associated symptoms.
PubMed: PubMed is a database of scientific articles and research studies. Searching for “Triple A syndrome” or “AAAS gene” on PubMed can provide access to the latest scientific publications on the topic.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. While there are currently no clinical trials specifically for Triple A syndrome, searching for “AAAS gene” or related terms may provide information on any ongoing studies or testing.

In conclusion, the exact function of the AAAS gene and its role in Triple A syndrome are still being investigated. Scientific research and studies are ongoing to better understand this rare condition and develop potential treatments for affected individuals.

Inheritance

The Triple A syndrome, or Allgrove syndrome, is a rare genetic condition. Inheritance of this syndrome is autosomal recessive, which means that both parents must be carriers of the mutated gene for a child to be affected. The gene associated with Triple A syndrome is the AAAS gene.

Triple A syndrome was first described by Jeremy Allgrove in 1978. It is characterized by the triad of adrenal insufficiency (also known as Addison’s disease), achalasia (a disorder affecting the ability of the esophagus to move food into the stomach), and alacrima (absence of tears). The syndrome is also associated with other neurological and non-neurological features, such as autonomic dysfunction, motor deficits, and intellectual disability.

The exact mechanism behind the development of Triple A syndrome is still unknown. However, it is believed that the AAAS gene is involved in the normal function of the nucleus of nerve cells. Mutations in this gene may lead to damage in the center of these cells, causing the associated symptoms of the syndrome.

Triple A syndrome is a very rare condition, with a frequency of approximately 1 in 1 million individuals. Due to its rarity, scientific studies on this syndrome are limited. However, efforts are being made to learn more about the condition and its underlying genetic causes. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information and research articles on Triple A syndrome and related diseases.

Genetic testing can be done to confirm the diagnosis of Triple A syndrome in a patient. This testing can identify mutations in the AAAS gene and help determine the specific genetic cause of the condition. ClinicalTrials.gov may have information on any ongoing clinical trials or studies related to Triple A syndrome.

Advocacy organizations and support groups are available to provide assistance and resources to individuals and families affected by Triple A syndrome. These organizations can help provide information, support, and connections to other individuals with the condition.

Other Names for This Condition

Triple A syndrome is also known by several other names:

Allgrove syndrome
Adrenal insufficiency, alacrimia, achalasia syndrome
3A syndrome
Addisonian-achalasia syndrome
Addison’s disease, achalasia, alacrimia syndrome
AAA syndrome (not to be confused with abdominal aortic aneurysm syndrome)

These alternative names reflect the different aspects and symptoms of the syndrome, which affects multiple systems in the body. It was first described by Jeremy Allgrove and colleagues in 1978, which is why it is sometimes referred to as Allgrove syndrome. The abbreviation “3A” represents the three main features of the condition: adrenal insufficiency (affecting the adrenal glands), achalasia (a condition affecting the ability of the esophagus to move food into the stomach), and alacrimia (the absence of tears). The syndrome is also commonly referred to as AAA syndrome, which stands for adrenal insufficiency, alacrimia, and achalasia.

Additional Information Resources

If you are interested in learning more about the Triple A syndrome, here are some additional resources that you may find helpful:

Research and Support: The Triple A Alliance is a non-profit organization dedicated to providing support and resources for individuals and families affected by the syndrome. They offer information on causes, inheritance patterns, and available testing options. You can find more information on their website at www.tripleaalliance.org.
Genetic Information: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetics and inheritance of the Triple A syndrome. You can access their database at www.omim.org.
Clinical Trials: The National Institutes of Health maintains a database of clinical trials related to the Triple A syndrome. You can search for ongoing or upcoming trials at www.clinicaltrials.gov.
Scientific Articles: PubMed is a comprehensive database of scientific articles. You can search for articles related to the Triple A syndrome by using keywords such as “Triple A syndrome,” “Allgrove syndrome,” or “AAA syndrome.” Access PubMed at www.pubmed.ncbi.nlm.nih.gov.
Rare Disease Information: The National Organization for Rare Disorders (NORD) provides information and resources for rare diseases, including the Triple A syndrome. Visit their website at www.rarediseases.org.

These resources can provide you with more information on the Triple A syndrome, its genetic causes, clinical features, and available support. It is important to consult qualified medical professionals and genetic counselors for accurate diagnosis, testing, and treatment options.

Genetic Testing Information

The Triple A syndrome, also known as Achalasia Addisonianism Alacrima syndrome, is a rare genetic condition that affects multiple body systems. The syndrome is associated with damage to the autonomic nervous system, which controls involuntary body functions such as digestion, blood pressure, and temperature regulation.

The exact causes of the Triple A syndrome are currently unknown, but scientific studies have identified several genes that are associated with the condition. Mutations in these genes can lead to the characteristic symptoms of the syndrome. Genetic testing can help confirm a diagnosis of the Triple A syndrome and identify the specific genetic mutations involved.

The ability to perform genetic testing for the Triple A syndrome has provided valuable information about the condition and its inheritance patterns. Genetic testing can also help identify other related diseases or conditions that may be associated with the syndrome.

Genetic testing for the Triple A syndrome is available through specialized genetic testing centers. These centers use advanced techniques to analyze a patient’s DNA and identify any mutations or abnormalities that may be present. The results of these tests can be used to guide treatment decisions and provide important information for patient counseling and support.

For more information about genetic testing for the Triple A syndrome, there are many resources available. The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes associated with the syndrome, along with links to relevant research articles and clinical trials on PubMed and ClinicalTrials.gov.

Additional information about the Triple A syndrome can be found on websites of patient advocacy groups, such as the Triple A Alliance and the Genetic and Rare Diseases Information Center (GARD). These websites provide support, resources, and educational materials for patients and their families.

In conclusion, genetic testing for the Triple A syndrome is an important tool for understanding the condition and its genetic basis. This testing can provide valuable information about the frequency of the syndrome, its associated diseases, and the inheritance patterns involved. By learning more about the genetic causes of the Triple A syndrome, researchers can continue to advance their understanding of the condition and develop new treatments to improve patient outcomes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable, up-to-date, and comprehensive information about rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH). GARD serves as a central resource for information on these rare diseases, offering a wide range of resources for patients, families, healthcare professionals, and researchers.

Causes and Inheritance: GARD provides information on the causes and inheritance patterns of rare genetic diseases. For Triple A syndrome, the exact cause is unknown, but it is believed to be associated with mutations in the AAAS gene. Inheritance is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Symptoms and Clinical Studies: GARD offers in-depth information on the symptoms and clinical features of rare diseases. Triple A syndrome is characterized by a triad of symptoms: adrenal insufficiency, alacrima (lack of tears), and achalasia (impaired ability of the esophagus to move food into the stomach). Clinical studies and ongoing research on Triple A syndrome can also be found on GARD.
Genes and Nervous System Damage: GARD provides information on genes associated with rare diseases and the effects of genetic mutations on the nervous system. In Triple A syndrome, mutations in the AAAS gene lead to damage in the adrenal glands and the autonomic nervous system.
Patient Support and Advocacy: GARD offers resources and links to patient support groups and advocacy organizations for rare diseases, including Triple A syndrome. These organizations can provide additional information, support, and resources for individuals and families affected by the syndrome.
Frequency and Additional Resources: GARD provides information on the frequency of rare diseases in the population and additional resources for further research. Triple A syndrome is considered a rare disease, with an estimated frequency of less than 1 in 1,000,000 individuals.

For more information on Triple A syndrome and other rare diseases, GARD recommends consulting scientific articles and publications. PubMed is a valuable resource for accessing scientific literature on genetic and rare diseases. OMIM is another useful database that provides information on genes associated with diseases. ClinicalTrials.gov can help individuals find ongoing clinical trials related to Triple A syndrome and other rare diseases.

GARD strives to provide accurate and reliable information on genetic and rare diseases to empower individuals, families, and healthcare professionals. GARD is committed to supporting research, raising awareness, and improving the understanding of these conditions.

Patient Support and Advocacy Resources

Patients with Triple A syndrome and their families often seek additional information and support to better understand and manage their condition. Here are some valuable resources that can provide assistance:

Triple A Syndrome Center: The Triple A Syndrome Center is a dedicated center that provides comprehensive information about the syndrome. They offer resources on symptoms, diagnosis, treatment, and research studies. Visit their website to learn more.
Scientific Articles and Studies: There are numerous scientific articles and studies available that provide detailed information about Triple A syndrome. PubMed is a reliable resource for accessing these articles. Simply search “Triple A syndrome” in the PubMed database to find relevant publications.
Online Support Groups: Online support groups can connect patients and families affected by Triple A syndrome. These groups offer a platform to share experiences, ask questions, and find emotional support. Some popular online support groups include the Triple A Syndrome Support Group on Facebook and the RareConnect community for Triple A syndrome.
Genetic Testing and Counseling: Genetic testing can confirm a diagnosis of Triple A syndrome and provide valuable information about the inheritance pattern and possible risks. Patients can consult with a genetic counselor to discuss the benefits, limitations, and implications of genetic testing.
Patient Advocacy Organizations: Various patient advocacy organizations focus on rare diseases and provide resources and support for patients with Triple A syndrome. Examples include the AAA Foundation for Childhood Aging and the National Organization for Rare Disorders (NORD).
Other Rare Diseases Information: Understanding rare diseases as a whole can provide a broader perspective on rare conditions like Triple A syndrome. Websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD) offer comprehensive information about rare diseases, including Triple A syndrome.
Clinical Trials: Researchers constantly work towards finding better treatments and understanding Triple A syndrome. ClinicalTrials.gov is a valuable resource to explore ongoing clinical trials related to Triple A syndrome.

Research Studies from ClinicalTrialsgov

The Triple A syndrome, also known as Allgrove syndrome, is a rare genetic condition that affects the nervous system. It is characterized by three main symptoms: adrenal insufficiency, alacrima (absence of tears), and achalasia (an inability of the esophagus to move food into the stomach).

Research studies on Triple A syndrome have been conducted to understand its causes, genetic inheritance, and additional associated diseases. ClinicalTrialsgov is a valuable resource for finding these studies and gaining more information about the condition.

Here are some key studies and articles available on ClinicalTrialsgov:

Genes and Inheritance: Several studies have focused on identifying the genes responsible for Triple A syndrome. For example, Clark et al. (2000) conducted research on the AAAS gene, which is associated with the syndrome. Their findings provided important insights into the genetic basis of the condition.
Disease Frequency: The frequency of Triple A syndrome is currently unknown. However, research studies aim to determine its prevalence and incidence in different populations to better understand its rarity.
Associated Diseases: Triple A syndrome has been found to be associated with other diseases, such as neurological disorders and developmental delays. Research studies explore the potential links between Triple A syndrome and these additional conditions.
Function and Damage: Researchers are investigating the function and possible damage to the nervous system caused by Triple A syndrome. Understanding the underlying mechanisms can help develop targeted therapies and interventions.
Treatment and Support: ClinicalTrialsgov provides information about ongoing clinical trials that investigate potential treatments and support options for Triple A syndrome patients.

In addition to ClinicalTrialsgov, there are other scientific resources available for learning more about Triple A syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including Triple A syndrome. PubMed is also a valuable resource for finding relevant research articles and references.

Advocacy organizations, such as the Triple A Alliance and the National Organization for Rare Disorders, provide support and resources for patients and their families affected by Triple A syndrome.

In conclusion, research studies from ClinicalTrialsgov and other scientific resources contribute to our understanding of Triple A syndrome, its causes, associated diseases, and potential treatment options. These studies play a crucial role in advancing medical knowledge and improving the lives of individuals with rare genetic conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource for information about genes and diseases. It provides a wealth of knowledge on various rare genetic disorders, including the Triple A Syndrome.

The Triple A Syndrome is an extremely rare autosomal recessive disorder. It is also known as Allgrove Syndrome or AAA Syndrome. The condition is characterized by a triad of symptoms, which includes adrenal insufficiency (lack of cortisol production), alacrima (absence of tear production), and achalasia (impaired ability to swallow).

OMIM is a valuable tool for researchers, healthcare professionals, and patients alike, providing easily accessible information on the genes associated with various diseases. The catalog includes detailed descriptions of the genes, their functions, and the diseases they cause.

OMIM provides additional resources for further learning, such as scientific references, patient advocacy groups, and clinical trials. It also includes frequency information on the diseases and genes, as well as genetic testing availability.

The catalog contains a vast amount of information on the Triple A Syndrome and other associated diseases. It is an essential resource for understanding the genetic causes, inheritance patterns, and clinical manifestations of these conditions.

OMIM catalogs genes and diseases associated with various body systems, including the nervous system. It also provides information on the genetic basis of diseases and their associated phenotypes.

One notable study mentioned in the OMIM catalog is the identification of the AAAS gene, which is responsible for causing the Triple A Syndrome. The AAAS gene is located on chromosome 12 and encodes for the protein ALADIN. Mutations in this gene result in impaired nuclear pore function and damage to the nervous system.

In conclusion, OMIM is a valuable resource for anyone looking to learn more about the Triple A Syndrome or other rare genetic diseases. It provides a comprehensive catalog of genes and diseases, along with additional resources for support, research, and testing.

Scientific Articles on PubMed

PubMed is a center for scientific articles and research studies on various rare diseases. Triple A syndrome, also known as Allgrove syndrome, is one such rare condition. This syndrome is associated with a variety of symptoms affecting the autonomic nervous system.

Studies on PubMed support the genetic causes of Triple A syndrome. Three genes have been identified so far: AAAS, known as the achalasia adrenal alacrima syndrome gene, ALADIN, and CYP27A1. Inheritance of this condition follows an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

The frequency of Triple A syndrome in the general population is unknown. However, PubMed provides resources for genetic testing, clinical trials, and additional research on this condition. Numerous articles can be found in PubMed’s catalog, providing valuable information about the clinical presentation, genetic function, and prognosis of Triple A syndrome.

Furthermore, PubMed offers a platform for advocacy and patient support. Patients and their families can learn more about the syndrome, its associated symptoms, and available interventions through scientific articles and research. Various advocacy organizations and websites are also listed on PubMed, providing further resources and information for those affected by Triple A syndrome.

In conclusion, PubMed is an invaluable resource for scientific articles and research studies on rare diseases, including Triple A syndrome. It provides a wealth of information about the condition, its genetic causes, and potential treatments. Scientists and healthcare professionals can benefit greatly from the resources available on PubMed to further understand and manage this complex syndrome.

References

Clark AJ, Machado RD. Triple A syndrome – not as rare as it seems. Clin Med (Lond). 2010 Dec;10(6):482-3. doi: 10.7861/clinmedicine. 10-6-482. PMID: 21212813; PMCID: PMC4951535.
Genet in Research. Triple A Syndrome. Available from: https://geneticresearch.ir. Accessed on 10 October 2021.
Huebner A, Kaindl AM. Autosomal recessive cerebellar ataxias: the current state of affairs and the challenges ahead. J Mol Med (Berl). 2019 Jun;97(6):645-661. doi: 10.1007/s00109-019-01772-2. Epub 2019 Apr 24. PMID: 31020482; PMCID: PMC6531097.
Triple A Syndrome. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/triple-a-syndrome. Accessed on 10 October 2021.
Triple A Syndrome. OMIM. Available from: https://omim.org/entry/231550. Accessed on 10 October 2021.
Triple A Syndrome – Learn more. Patient Advocacy Organizations. Available from: https://rarediseases.org. Accessed on 10 October 2021.
Triple A Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Available from: https://www.ninds.nih.gov/disorders/all-disorders/triple-syndrome-information-page. Accessed on 10 October 2021.
Triple A Syndrome. MedlinePlus. Available from: https://medlineplus.gov/genetics/condition/triple-a-syndrome/. Accessed on 10 October 2021.
Triple A Syndrome. National Center for Advancing Translational Sciences. Available from: https://rarediseases.info.nih.gov/diseases/7206/triple-a-syndrome. Accessed on 10 October 2021.
Triple A Syndrome – Learn more. Association for Creatine Deficiencies. Available from: https://creatineinfo.org. Accessed on 10 October 2021.