The EYA1 gene is a genetic factor associated with various disorders and anomalies. It is primarily related to branchiootorenal syndrome, a congenital condition characterized by abnormalities in the neck and urinary tract. This gene plays a crucial role in the development and function of multiple organs and systems in the body.

Researchers have identified mutations in the EYA1 gene in patients with branchiootorenal syndrome. These genetic changes can lead to abnormal protein activity, resulting in the development of the syndrome’s characteristic symptoms. The EYA1 gene is believed to be one of the key genes involved in the pathogenesis of this condition.

EYA1 is listed in various genetic databases, such as Genet and OMIM, providing important information and references for researchers and healthcare professionals. These resources can be used for further research, genetic testing, and clinical management of patients with branchiootorenal syndrome and other related disorders.

Several articles and scientific papers have been published on the EYA1 gene, its role in different diseases and conditions, and its interactions with other genes and proteins. PubMed, a widely used database for scientific literature, contains a vast catalog of articles related to this gene.

In addition to branchiootorenal syndrome, the EYA1 gene has also been associated with other disorders and anomalies, such as congenital eye abnormalities and congenital kidney diseases. Further studies and tests are required to fully understand the role and significance of this gene in these conditions.

Overall, the EYA1 gene holds great importance in the field of genetics and health. Its involvement in various disorders and its potential as a diagnostic and therapeutic target make it a topic of interest for researchers and healthcare professionals.

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Health Conditions Related to Genetic Changes

Genetic changes in the EYA1 gene can lead to various health conditions and disorders. These changes can result in anomalies in the development of branchial arches, causing congenital branchiootorenal syndrome. This syndrome affects the branchial arches, kidneys, and urinary tract.

The EYA1 gene and other related genes play a crucial role in the development and activity of proteins involved in branchial arches formation. Changes in these genes can disrupt the normal development of the branchial arches, leading to branchiootorenal syndrome.

Patients with branchiootorenal syndrome may experience a range of symptoms, including branchial arch anomalies, kidney and urinary tract abnormalities, and clouding of the front part of the eyes. Additional health conditions related to these genetic changes can also occur.

Researchers and scientific databases such as OMIM and Genet provide valuable resources for studying and understanding these genetic changes. Their databases contain articles, references, and scientific information related to the EYA1 gene and other genes associated with branchiootorenal syndrome and other related disorders.

Diagnostic testing and genetic testing can help identify genetic changes in these genes. These tests can provide crucial information for patients and healthcare professionals in managing and treating these conditions.

Patients and healthcare professionals can access various resources and databases to find information and support related to these health conditions. The EYA1 gene and other related genes have their specific scientific names and aliases, which can be used to search for additional information and resources.

Genetic changes in the EYA1 gene and related genes have been extensively studied, and numerous scientific articles and references are available. These resources can provide valuable insights for researchers, healthcare professionals, and patients.

It is important for individuals and families affected by these genetic changes to consult with healthcare professionals, access genetic testing, and utilize the available resources to better understand and manage these health conditions.

Branchiootorenalbranchiootic syndrome

Branchiootorenalbranchiootic syndrome is a genetic disorder listed in various resources and databases. It is caused by changes in the EYA1 gene, which is responsible for the development of branchial arches and kidney structures.

This syndrome is characterized by abnormalities in the neck and urinary tract, as well as congenital kidney anomalies. It may also involve clouding of the front part of the eyes.

Diagnosing this condition usually involves genetic testing to identify the specific variant in the EYA1 gene. Additional tests, such as imaging and clinical examination, are often performed to evaluate the extent of abnormalities and associated conditions.

Researchers and health professionals can find more information on this syndrome, related genes and proteins, and testing options through scientific articles, genetic test catalogs, and databases. They can also refer to reputable resources such as OMIM, Genet, PubMed, and other genetic registries for references and further information.

Patient resources and support groups can provide information on managing the syndrome and connecting with others affected by the condition.

Congenital anomalies of kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of conditions that affect the development of the kidneys and urinary system. These anomalies can include abnormalities in the size, shape, and structure of the kidneys, as well as abnormalities in the ureters, bladder, and urethra.

CAKUT encompasses a wide range of disorders, including renal agenesis, renal hypoplasia, horseshoe kidney, cystic kidney diseases, and other structural abnormalities. These anomalies can lead to various health problems, such as urinary tract infections, kidney damage, and renal failure.

There are several genes that have been implicated in CAKUT, including the EYA1 gene. Mutations in the EYA1 gene have been associated with a condition known as branchiootorenal syndrome (BOR syndrome). BOR syndrome is characterized by anomalies in the neck and ears, as well as kidney and urinary tract abnormalities.

Diagnosis of CAKUT and BOR syndrome typically involves a combination of clinical evaluation, imaging tests such as ultrasound and MRI, and genetic testing. Genetic testing can help identify mutations in genes like EYA1 that are associated with these conditions.

Scientific databases and resources, such as PubMed, OMIM, and other genetic databases, can provide additional information and references for researchers and healthcare providers. These resources offer a wealth of articles, references, and data on genetic disorders, including CAKUT and BOR syndrome.

The EYA1 gene encodes proteins that play a role in the development and function of the kidneys and urinary tract. Mutations in this gene can disrupt the normal activity of these proteins, leading to the abnormal development of the urinary system.

Understanding the genetic changes associated with CAKUT and BOR syndrome is crucial for improving diagnosis, treatment, and management of these conditions. Further research is needed to explore the complex interactions between genes and other factors that contribute to the development of CAKUT and related disorders.

In summary, congenital anomalies of the kidney and urinary tract are a diverse group of conditions that can have significant impacts on patient health. Genetic testing, along with clinical evaluation and imaging tests, can help identify these conditions and guide treatment decisions. The EYA1 gene, along with other genes, plays a critical role in the development and function of the kidneys and urinary tract, and understanding its role in CAKUT and BOR syndrome is important for advancing research and improving patient care.

Other disorders

In addition to branchiootorenal syndrome, mutations in the EYA1 gene have also been associated with other disorders. Some of these disorders include:

• Branchiootorenal-branchiootic (BORBO) syndrome: This is a congenital disorder characterized by anomalies in the branchial arches and kidney and urinary tract abnormalities.
• Frontonasal dysplasia: This is a rare genetic condition that affects the development of the front part of the head and face, resulting in facial asymmetry and anomalies in the eyes, forehead, and nose.
• These are just a few examples of the disorders related to mutations in the EYA1 gene. Additional scientific information on these and other related disorders can be found in databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Researchers and healthcare professionals can use genetic testing to identify mutations in the EYA1 gene and other genes associated with these disorders. Testing for these genes can help in the diagnosis of patients with clinical features suggestive of these conditions and provide additional information for genetic counseling and management.

For further information on specific genes and disorders, references to scientific articles, and other resources, healthcare professionals and researchers can refer to databases and platforms dedicated to genetic information and research.

Other Names for This Gene

The EYA1 gene is also known by other names:

• Branchiootorenal syndrome 1
• EYA1 transcriptional coactivator and phosphatase
• OTC
• Eyes absent homolog 1
• Eye absent 1
• BOT1
• Branchial-otic syndrome 1
• Otofaciocervical syndrome

These alternative names for the EYA1 gene reflect its involvement in various disorders and conditions. Researchers have discovered that changes in the EYA1 gene can lead to branchiootorenal syndrome and other related congenital anomalies, such as urinary tract anomalies and kidney anomalies.

For additional information on disorders associated with this gene, researchers and patients can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and Genetests. These resources provide valuable information on the genetic factors and testing options for these disorders.

In addition, other genes and proteins listed in these databases and publications are related to the EYA1 gene and may play a role in the development and activity of branchiootorenal syndrome and other associated conditions.

EYA1 gene testing and variant analysis can help diagnose individuals with suspected branchiootorenal syndrome or other related disorders. Health professionals can use tests such as DNA sequencing and gene panel testing to identify changes in the EYA1 gene that may contribute to the development of these conditions.

The EYA1 gene has been found to be crucial in the formation of various structures during embryonic development, including the branchial arches, otic vesicle, and cervical muscles. Changes in this gene can disrupt normal development and lead to the characteristic features of branchiootorenal syndrome, such as branchial arch anomalies, hearing loss, urinary tract abnormalities, facial changes, and clouding of the front part of the eye.

The EYA1 gene is listed in various genetic catalogs and databases, and its role in branchiootorenal syndrome has been well-established through scientific research and clinical observations. The EYA1 gene is one of the key genes involved in the development and function of various structures and systems in the body, particularly in the branchial arches, otic vesicle, and urinary tract.

For further information and references related to the EYA1 gene and its association with branchiootorenal syndrome and other related disorders, researchers and health professionals can refer to scientific articles and publications in the field of genetics and genomics.

Additional Information Resources

Here is a list of additional resources related to the EYA1 gene:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find more information on the EYA1 gene and related conditions on their website.
• PubMed: PubMed is a database of scientific articles and references. Searching for “EYA1 gene” will provide you with a list of relevant research articles.
• Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for EYA1 gene variants. It also includes information on laboratories offering these tests.
• Branchiootorenal Syndrome Foundation: The Branchiootorenal Syndrome Foundation is a patient advocacy organization that provides support and resources for patients with branchiootorenal syndrome. Their website includes information on the syndrome and links to other helpful resources.

These resources can help researchers, healthcare professionals, and patients access additional information on the EYA1 gene, related conditions, and testing options.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various genetic disorders. The Genetic Testing Registry (GTR) offers a comprehensive catalog of genes and tests associated with different conditions. It provides researchers, healthcare professionals, and patients with valuable information on genetic testing options available.

The EYA1 gene, also known as the “eyes absent homolog 1” gene, is one of the genes listed in the GTR. It plays a significant role in the development of branchial arch, branchial arch derivative, and kidney. Variants and changes in this gene can lead to branchiootorenal (BOR) syndrome and other related conditions.

The GTR provides a database of articles, tests, and other resources associated with the EYA1 gene. These resources include references from scientific publications, clinical trials, and databases like Online Mendelian Inheritance in Man (OMIM). It offers a comprehensive collection of information related to the urinary tract anomalies, branchial anomalies, and congenital ear anomalies associated with the EYA1 gene.

Testing EYA1 gene can help healthcare professionals identify genetic variants that may lead to BOR syndrome or related disorders. The results of these tests guide appropriate treatment approaches, genetic counseling, and further investigations into the condition.

In addition to the EYA1 gene, the GTR also lists other genes that may be related to BOR syndrome and its associated conditions. These genes include branchiootorenal gene (genet), which is associated with branchiootic syndrome, as well as other genes and proteins that interact with EYA1.

The GTR provides an organized and easily accessible platform for researchers, clinicians, and patients to explore and understand the genetic factors involved in BOR syndrome and related disorders. It offers a vast array of testing options, research articles, and resources to aid in the diagnosis and management of these conditions.

References:

1. “EYA1 (eyes absent transcriptional coactivator and phosphatase 1).” Genetics Home Reference (GHR). U.S. National Library of Medicine, n.d. Web. 12 May 2022.
2. “EYA1.” Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, n.d. Web. 12 May 2022.
3. “EYA1.” PubMed. U.S. National Library of Medicine, n.d. Web. 12 May 2022.

Scientific Articles on PubMed

PubMed is a database of scientific articles that provides valuable information on various topics. When it comes to the EYA1 gene, PubMed offers a wide range of articles that explore different aspects of this gene and its related conditions.

Patients with EYA1 gene changes often exhibit a condition known as branchiootorenal (BOR) syndrome. PubMed contains numerous articles that discuss the characteristics, symptoms, and treatments of BOR syndrome, providing valuable insights for both patients and healthcare professionals.

Researchers can utilize PubMed to access scientific articles on the EYA1 gene and its role in various diseases and conditions. By examining these articles, researchers can better understand the genetic factors and mechanisms underlying BOR syndrome and related disorders.

In addition to BOR syndrome, PubMed also features articles on other branchial arch-related anomalies and congenital disorders. This information can help scientists and healthcare providers further their understanding of these conditions and facilitate the development of new diagnostic tests and treatments.

The EYA1 gene is associated with kidney and urinary tract anomalies. PubMed offers a comprehensive catalog of articles that explore the connection between EYA1 gene mutations and these abnormalities. This information is essential for genetic testing and counseling, as it helps identify the specific genes and variants associated with these disorders.

PubMed provides additional resources on related genes, proteins, and factors, allowing researchers to gather a comprehensive understanding of the genetic and molecular factors involved in BOR syndrome and other related conditions. The references provided in PubMed articles serve as a valuable source of information for in-depth research and analysis.

Overall, PubMed is a valuable resource for researchers, healthcare providers, and individuals seeking information on the EYA1 gene and its associated conditions. By offering a vast collection of scientific articles, PubMed contributes to the advancement of knowledge in the field of genetics and provides essential information for diagnosing and treating patients with EYA1 gene mutations.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genes and genetic disorders. It serves as a valuable resource for researchers, clinicians, and patients seeking to understand various genetic conditions. In this catalog, we will focus specifically on the EYA1 gene and its related disorders.

The EYA1 gene, also known as the Eyes Absent 1 gene, plays a crucial role in the development of several organs, including the eyes, ears, and kidneys. Mutations or changes in this gene can lead to various congenital anomalies and disorders.

One condition associated with mutations in the EYA1 gene is Branchiootorenal (BOR) syndrome. This rare genetic disorder affects the development of branchial arches, which are structures in the neck region. It is characterized by abnormalities in the ears, kidneys, and urinary tract.

To diagnose BOR syndrome, healthcare professionals may conduct genetic tests to identify changes or variants in the EYA1 gene. These tests can help confirm the presence of the condition in patients and guide appropriate management strategies.

Scientists and researchers have extensively studied the EYA1 gene and its activity within the body. Numerous scientific articles and studies have been published, detailing the role of this gene in various diseases and disorders.

Additional information on the EYA1 gene and related conditions can be found on the OMIM website. The website provides a clouding of genes, diseases, and related resources, allowing users to access comprehensive information on specific conditions.

OMIM also offers a database that lists genes and genetic disorders. This database includes a registry of genes and their associated disorders, providing references and links to relevant scientific articles and resources. Users can explore this database to gain a deeper understanding of the EYA1 gene and its relationship to other genetic conditions.

In conclusion, the EYA1 gene is associated with various congenital anomalies and disorders, including the Branchiootorenal syndrome. Researchers and healthcare professionals can use OMIM and its resources to access information, references, and testing resources related to this gene and other associated conditions.

Gene and Variant Databases

Researchers studying the EYA1 gene and its variants can find valuable information in various gene and variant databases. These databases collect and organize scientific articles, references, and other resources related to genes and genetic conditions.

One of the most widely used databases is PubMed, which provides access to a vast collection of scientific articles on a wide range of topics. Using keywords such as “EYA1 gene,” “branchiootorenal syndrome,” or “kidney anomalies,” researchers can find articles discussing the activity, changes, and effects of this gene and its variants.

Another useful database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and conditions. Researchers can search for specific gene names, such as EYA1, to find information on related diseases and genetic changes.

Genetic testing laboratories also maintain their own databases, where they store information on genes, variants, and their associated diseases. These databases are essential for physicians and genetic counselors who use genetic testing as a diagnostic tool. They help identify specific genetic changes that may be responsible for a patient’s congenital anomalies, such as kidney or branchial anomalies. The databases also provide information on testing availability and clinical interpretation of the results.

In addition to these databases, there are specialty databases that focus on specific conditions or gene families. For example, the Branchiootorenal Syndrome and Branchiootic Syndrome Registry collects information on patients with these conditions, helping researchers better understand the genetic causes and clinical features of these disorders.

Front-line researchers and clinicians can also benefit from databases that provide information on the protein products of genes. These databases catalog the names, functions, and activities of proteins, allowing researchers to explore the molecular mechanisms underlying genetic conditions like branchiootorenal syndrome.

In summary, gene and variant databases play a crucial role in advancing our understanding of genes like EYA1 and their associated disorders. They provide a wealth of information, references, and testing resources for researchers, clinicians, and other healthcare professionals. By centralizing and organizing knowledge, these databases enable collaborative research efforts that contribute to scientific progress and improved health outcomes.

References

• Genes and Genetic Testing:
• Front Databases: branchiootorenal (branchiootorenalbranchiootic) syndrome, genes and proteins
• OMIM: Entry on EYA1 gene
• Scientific Articles and Resources:
• PubMed: Articles related to EYA1 gene
• Genet Testing Registry: Information on genetic testing for EYA1 gene
• Congenital Conditions and Disorders:
• Branchiootorenal (branchiootorenalbranchiootic) syndrome
• Branchial anomalies
• Neck disorders
• Urinary tract anomalies
• Kidney diseases
• Additional Information:
• Other genes associated with branchiootorenal (branchiootorenalbranchiootic) syndrome
• Activity of EYA1 gene
• Variant changes in EYA1 gene
• Health testing and screening for EYA1 gene
• Clouding of the eyes in patients with EYA1 gene mutations