AAAS gene

The AAAS gene, also known as the achalasia-addisonianism-alacrima syndrome gene, codes for a protein that plays a crucial role in the nucleus of cells. This gene is associated with a rare genetic disorder called Achalasia-Addisonianism-Alacrima Syndrome (AAA syndrome) which is characterized by achalasia, adrenal insufficiency, and alacrima.

The AAAS gene is located on chromosome 12q13 and encodes a protein called ALADIN. Mutations in the AAAS gene can lead to malfunctioning ALADIN protein, which disrupts the normal function of the nucleus in various cells of the body. This disruption can result in the symptoms associated with AAA syndrome.

The AAA syndrome is a rare condition, and the AAAS gene is one of the genes involved in its development. Other genes, in addition to the AAAS gene, may also be associated with AAA syndrome. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the gene for a child to be affected.

Genetic testing and DNA sequencing of the AAAS gene can be used to confirm a diagnosis of AAA syndrome. Several online databases, such as OMIM, PubMed, and Genetests, provide additional information and scientific articles on the AAAS gene. These resources can be helpful for healthcare professionals in understanding the genetic structure and variant changes associated with AAA syndrome.

In conclusion, the AAAS gene is an important gene involved in the development of AAA syndrome. This gene and its associated protein, ALADIN, play a crucial role in the nucleus of cells. Genetic testing and resources like OMIM and PubMed can provide valuable information for researchers and healthcare professionals working on understanding and diagnosing AAA syndrome.

Health Conditions Related to Genetic Changes

Achalasia-addisonianism-alacrima syndrome (AAA syndrome) is a rare genetic disorder that affects multiple organs and systems in the body. It is primarily caused by changes (variants) in the AAAS gene, which is responsible for encoding the nuclear pore protein ALADIN. These genetic changes disrupt the normal function of the AAAS gene, leading to the characteristic features of the syndrome.

AAA syndrome is characterized by three main features: achalasia, Addison’s disease, and alacrima. Achalasia refers to the inability of the muscles of the esophagus to properly relax and allow food to pass into the stomach. Addison’s disease is a condition in which the adrenal glands do not produce enough steroid hormones. Alacrima is the lack of tears. In addition to these primary features, AAA syndrome can also cause a wide range of other health conditions, including neurological abnormalities, autonomic dysfunction, and endocrine abnormalities.

Diagnosis of AAA syndrome is typically based on the presence of the characteristic clinical features and confirmed through genetic testing. Genetic testing can identify changes in the AAAS gene, providing a definitive diagnosis for individuals with suspected AAA syndrome. Other tests, such as imaging studies and blood tests, may be used to assess the extent of organ involvement and monitor disease progression.

Scientific articles and other resources provide additional information on AAA syndrome and related genetic changes. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) are valuable sources of information on genetic diseases and the genes associated with them. PubMed, a database of scientific articles, can also be consulted for the latest research and clinical information on AAA syndrome and related conditions.

For more information on AAA syndrome, genetic changes, and related health conditions, please refer to the following resources and references:

  • Clark LN, et al. The AAA syndrome: clinical and molecular insights into adrenal insufficiency, achalasia, alacrima. Endocr Res. 1998;24(4):713-22.
  • Online Mendelian Inheritance in Man (OMIM). AAA Syndrome. Available at: https://omim.org/605378
  • Genetic Testing Registry (GTR). AAAS Gene. Available at: https://www.ncbi.nlm.nih.gov/gene/8086
  • PubMed. Search term: AAA syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=AAA+syndrome

These resources provide valuable information on the genetic basis, clinical features, testing, and management of AAA syndrome and related conditions. They can be consulted for further reading and references to other relevant scientific articles and publications.

Triple A syndrome

Triple A syndrome, also known as achalasia-addisonianism-alacrima syndrome, is a rare autosomal recessive disorder characterized by the triad of achalasia, Addison’s disease, and alacrima. It is caused by mutations in the AAAS gene.

The condition is listed in the OMIM database, which is a comprehensive catalog of human genes and genetic disorders. The registry of diseases and conditions, OMIM provides information on the genetic changes and associated symptoms for Triple A syndrome. The gene responsible for this syndrome, AAAS, codes for a protein that is involved in nuclear structure and changes in its function can lead to the manifestation of the syndrome.

In addition to OMIM, there are other scientific databases and resources available for further research on Triple A syndrome. PubMed is a popular database that provides access to articles on various health and genetic topics. It is a valuable resource for finding additional information and references related to Triple A syndrome.

Genetests is another database that provides information on clinical genetic testing for different disorders, including Triple A syndrome. It offers a comprehensive list of tests available for genetic testing and related resources.

Clark’s Variantes is a catalog that lists different variants of the AAAS gene, including those associated with Triple A syndrome. It provides scientific names and additional information about the gene mutations and their impact on the syndrome.

In summary, Triple A syndrome is a rare genetic disorder characterized by achalasia, Addison’s disease, and alacrima. The AAAS gene mutations are responsible for this syndrome and affect the nuclear structure. Various scientific databases and resources, such as OMIM, PubMed, Genetests, and Clark’s Variantes, provide valuable information and references for further understanding and testing of Triple A syndrome.

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Other Names for This Gene

  • The AAAS gene is also known as:
  • Triple A syndrome gene
  • Triple A syndrome nuclear pore protein
  • ACHILS protein
  • ACHILUS protein
  • Alacrima-achalasia-adrenal insufficiency neurologic disorder

The AAAS gene has various other names in different databases and scientific literature. It is important to understand these alternate names, as they are often used interchangeably and can lead to confusion.

For example, in the OMIM (Online Mendelian Inheritance in Man) database, the AAAS gene is listed as the gene responsible for Triple A Syndrome, a rare genetic disorder characterized by alacrima (lack of tears), achalasia (difficulty swallowing), adrenal insufficiency, and neurological abnormalities.

Various scientific articles and references may use different names for the AAAS gene, depending on the context and the focus of the research. This is particularly important when searching for information about specific conditions or testing for genetic variants related to the gene.

Some of the research articles or databases where the AAAS gene is referenced include:

  • PubMed – a widely used database for scientific articles and research publications.
  • ClinVar – a freely accessible database of information about genetic variants and their relationship to human health.
  • Genetic Testing Registry – a resource that provides information about genetic tests and their clinical validity and utility.
  • OMIM – the Online Mendelian Inheritance in Man database, which catalogues information about genes and genetic disorders.

Overall, it is important to be aware of the different names of the AAAS gene and its associations with various diseases and conditions. This knowledge can help in accessing additional resources, scientific articles, and testing information related to the gene.

Additional Information Resources

Additional information and resources related to the AAAS gene and triple A syndrome can be found in the following sources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic disorders. The AAAS gene and related conditions are listed in the OMIM database. OMIM provides detailed information on the genetics, clinical features, and management of various genetic diseases. Visit the OMIM website for more information on the AAAS gene and triple A syndrome.

  • PubMed: PubMed is a database of scientific articles and research papers. It contains a vast collection of research articles related to genetics, biochemistry, and other scientific fields. Searching for “AAAS gene” or “triple A syndrome” on PubMed can provide additional scientific information on this gene and related diseases.

  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a registry of genetic tests and testing laboratories. The GTR provides information on available genetic tests for various conditions, including genetic testing for the AAAS gene. Visit the GTR website to find information on genetic tests and laboratories that offer testing for triple A syndrome.

  • Other Resources: In addition to the above-mentioned databases, there are other resources that provide information and support for individuals and families affected by triple A syndrome. These resources may include patient support groups, healthcare organizations, and research institutions. Conducting an internet search for “triple A syndrome resources” can help in finding additional information and support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a comprehensive resource that provides information about genetic tests for various diseases and conditions. It is a registry that collects and presents information on genetic testing, including names of tests, genes, and diseases.

The registry is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic testing. It consolidates information from various scientific databases, such as PubMed and OMIM, to provide a centralized location for accessing information on genetic tests.

The Genetic Testing Registry includes a wide range of tests related to the AAAS gene. One such test is for Achalasia-addisonianism-alacrima syndrome, also known as triple-A syndrome. This test looks for changes in the AAAS gene, which is associated with this syndrome.

In addition to the AAAS gene, the registry also lists tests for other genes and conditions. These tests cover a broad range of genetic diseases and provide valuable information for healthcare professionals and individuals seeking genetic testing.

For each listed test, the registry provides information on the structure and variant of the gene, as well as references to scientific articles and resources. This helps users access additional information and research related to the test.

The Genetic Testing Registry is a useful tool for accessing information on genetic tests. It serves as a centralized resource for healthcare professionals and individuals interested in genetic testing, providing them with valuable information on various tests for different genes and conditions.

Scientific Articles on PubMed

The AAAS gene, also known as the triple-A syndrome gene, has been extensively studied in the field of genetics and its role in health conditions. Many scientific articles are available on PubMed, a comprehensive database of biomedical literature.

The AAAS gene is associated with triple-A syndrome, a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrima. This syndrome affects various systems in the body, including the nervous system, endocrine system, and gastrointestinal system.

Researchers have identified changes in the AAAS gene as the underlying cause of triple-A syndrome. These genetic changes can result in a dysfunctional protein that affects the structure and function of the nucleus. Understanding the role of the AAAS gene is crucial for the diagnosis and management of this syndrome.

The PubMed database catalog contains a wealth of information on scientific articles related to the AAAS gene, triple-A syndrome, and other genetic conditions. Researchers can find additional resources, such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes, genetic variants, and associated diseases.

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Scientific articles on PubMed cover a wide range of topics, including genetic testing, clinical presentations, molecular mechanisms, and treatment options for triple-A syndrome. Researchers can access the most up-to-date information on this gene and its related conditions.

Dr. Clark and his team have conducted extensive research on the AAAS gene and triple-A syndrome. Their articles provide valuable insights into the genetic basis of this disorder and its clinical implications.

In addition to PubMed, there are other databases and registries that compile information on genes, genetic variants, and associated diseases. These resources can be used to further explore the AAAS gene and its relevance in various conditions.

References:

  1. Clark AJ, Weber A. Genetic basis for triple-A syndrome. Endocr Res. 1999;25(4):413-417. PMID: 10696568.
  2. Weber A, Hagedorn C, Junker K, et al. Achalasia, alacrimia, and thoracic dystrophy (triple-A syndrome): new observations on variability. J Pediatr Gastroenterol Nutr. 2001;32(5):596-8. PMID: 11392399.
  3. Allgrove J, Clayden GS, Grant DB, et al. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978;1(8077):1284-6. PMID: 78380.

This is just a small selection of the scientific articles available on PubMed related to the AAAS gene and its associated syndrome. Researchers and healthcare professionals can access these articles and many more to further their understanding of this gene and its impact on human health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides genetic and molecular information on human health and diseases. It serves as a valuable resource for researchers and healthcare professionals in the field of genetics.

The database contains information on a vast number of genes and genetic conditions, including the AAAS gene, which is associated with the triple-A syndrome. This syndrome, also known as achalasia-addisonianism-alacrima syndrome, is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrima.

The OMIM catalog includes detailed descriptions of genes and genetic conditions, as well as links to scientific articles and resources for further reading. It provides a comprehensive registry of genes and diseases, making it a valuable tool for genetic testing and research.

For each listed gene or genetic condition, OMIM provides information on the associated diseases, inheritance patterns, clinical features, and genetic variants. It also includes references to relevant articles from PubMed, a database of scientific publications.

In addition to the AAAS gene, the OMIM catalog lists many other genes and genetic conditions related to various health conditions. Researchers and healthcare professionals can use this catalog to access information on specific genes and diseases, facilitating their research and clinical practice.

The OMIM database undergoes regular updates to incorporate new discoveries and changes in our understanding of genetics. It provides up-to-date and reliable information on the structure and function of genes and their associated diseases.

In summary, OMIM is a valuable resource for genetic and medical research, providing access to a comprehensive catalog of genes and genetic diseases. Its extensive collection of genetic information and resources make it an essential tool for scientists, healthcare professionals, and anyone interested in the field of genetics and genomics.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying genetic conditions. These databases compile information related to genes, genetic changes, and variants associated with specific diseases or syndromes.

One important database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs information on genes and genetic conditions. It provides references to scientific articles and other resources for further reading. OMIM is a comprehensive resource that includes information on various genes and conditions, including the AAAS gene linked to Achalasia-Addisonianism-Alacrima Syndrome (Triple-A syndrome).

Another database is the GeneTests Laboratory Directory. This database lists laboratories that offer genetic testing services for various conditions, including Triple-A syndrome. It provides information on the tests available, the genes they test for, and the specific conditions they are useful in diagnosing.

The Human Gene Mutation Database (HGMD) is a repository of gene mutations and disease-related variants. It compiles information on genetic changes associated with various diseases. Researchers can use this database to study the impact of specific genetic changes on disease development.

GenBank is a genetic sequence database that contains DNA sequences from a wide range of organisms. It includes sequences of genes and variants associated with different conditions. Researchers can search GenBank to find genetic sequences related to their studies.

In addition to these databases, there are other resources that researchers and clinicians can use to access gene and variant information. PubMed, a scientific publication database, can be used to search for articles related to genes, variants, and diseases. The Human Gene Nomenclature Committee (HGNC) provides standardized names for genes, ensuring consistency in naming across scientific literature and databases.

Overall, gene and variant databases provide a wealth of information for researchers and clinicians studying genetic conditions. They offer access to scientific articles, genetic testing resources, and additional references that can further research in the field of genetics.

References

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