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The PHOX2A gene is a homeodomain gene that plays a critical role in the development and formation of nerves, muscles, and other structures in the body. Mutations in this gene have been found to be associated with various congenital disorders and diseases.

Scientific databases, such as OMIM and PubMed, provide valuable information on the PHOX2A gene and its related conditions. OMIM is a comprehensive catalog of human genes and genetic disorders, while PubMed is a database of scientific articles and references. These resources list the different mutations and changes in the PHOX2A gene, as well as the associated conditions and additional genetic tests or testing methods available.

One of the main conditions linked to mutations in the PHOX2A gene is Hirschsprung disease, a disorder that affects the control of the bowel movements. Other conditions where the gene is implicated include congenital central hypoventilation syndrome, or CCHS, which affects breathing control, and neuroblastoma, a type of cancer that forms in nerve tissue.

Further research and studies are being conducted on the PHOX2A gene to better understand its role in various diseases and conditions. The information gathered from these studies can help in developing targeted diagnostic tests and potential treatments for these disorders. In addition, understanding the role of the PHOX2A gene may have broader implications in the field of genetics and its relation to human health.

Genetic changes in the PHOX2A gene have been found to be associated with several health conditions. These changes can affect the function of the PHOX2A gene, resulting in alterations in developmental processes and leading to various disorders and diseases.

The PHOX2A gene, also known as paired-like homeobox 2A, is a homeodomain-containing transcription factor that plays a crucial role in the development of certain structures in the body. It regulates the formation of nerves and muscles, particularly in the eyes and extraocular muscles.

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Some of the health conditions related to genetic changes in the PHOX2A gene include:

  • Congenital Fibrosis of Extraocular Muscles (CFEOM): This is a rare genetic disorder characterized by restricted eye movements and malformation of the extraocular muscles. Mutations in the PHOX2A gene have been found to be associated with CFEOM.
  • Other Eye Disorders: Genetic changes in the PHOX2A gene have also been linked to other eye disorders, such as congenital ptosis (drooping of the eyelids) and oculomotor apraxia (difficulty in moving the eyes).
  • Autonomic Nervous System Dysfunction: Mutations in the PHOX2A gene can result in dysregulation of the autonomic nervous system, which can lead to various symptoms including abnormal breathing patterns, heart rate abnormalities, and problems with digestion.

Testing for genetic changes in the PHOX2A gene can be done through genetic testing, which involves analyzing a person’s DNA to identify any mutations or changes in specific genes. This type of testing can provide important information for diagnosis, treatment, and management of related health conditions.

For additional information on health conditions related to the PHOX2A gene and genetic testing resources, the following references may be helpful:

  • Online Mendelian Inheritance in Man (OMIM) database: Provides comprehensive information on genetic disorders and related genes.
  • Genetic Testing Registry: A database of genetic tests, including tests for genes associated with specific health conditions.
  • PubMed: A scientific database with a vast collection of articles on genetics and related topics.

It is important to consult with healthcare professionals and genetic counselors for further guidance and interpretation of genetic testing results.

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Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder that affects the development and formation of the nerves and muscles that control eye movements. It is characterized by the inability to move the eyes properly, causing limitations in ocular movements.

CFEOM has been associated with mutations in the PHOX2A gene. This gene plays a crucial role in the development of the oculomotor nerves and muscles. Mutations in the PHOX2A gene can cause abnormal development of these structures, leading to the symptoms observed in CFEOM.

Testing for CFEOM typically involves genetic analysis to detect mutations in the PHOX2A gene. This can be done through various methods, such as DNA sequencing or targeted mutation analysis. These tests can provide valuable information for the diagnosis and management of the condition.

Information on CFEOM, including genetic variants, can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific databases are commonly used to gather information on this disorder. These resources provide access to articles, references, and additional information on CFEOM.

CFEOM is a rare condition, and its prevalence is unknown. It is listed in the Orphanet database, a registry for rare diseases and conditions. This database provides comprehensive information on the clinical aspects, genetics, and management of CFEOM.

Further research is needed to fully understand the mechanisms underlying CFEOM and the role of other genes and mutations in its development. Continued scientific investigations and genetic studies will contribute to a better understanding of the disorder and may lead to improved diagnostic tests and treatments.

Other Names for This Gene

PHOX2A gene is also known by other names, including:

  • ARIX: This name refers to the gene’s role in the formation of the autonomic nervous system and its control on related genes.

  • ARIX2: A variant of the ARIX gene, which plays a role in the development of extraocular muscles and controls genes related to this formation.

  • CONGENITAL CENTRAL HYPOVENTILATION SYNDROME 2: This name indicates the gene’s association with a disorder called Congenital Central Hypoventilation Syndrome, which affects the control of breathing during sleep.

  • EDN3-HRH2: This refers to the gene’s involvement in the formation of the enteric nervous system, as well as its control on genes related to this process.

  • ONB2: ONB stands for Ondine’s Curse, a condition characterized by the inability to breathe automatically during sleep. ONB2 indicates the involvement of this gene in a specific form of the disorder.

  • PHXD2: This is an alternative name for the PHOX2A gene and is often used in scientific articles and databases.

  • PMX2A (Phox2a): This name is used to denote the gene in scientific resources such as the PubMed and OMIM databases.

These are some of the other names associated with the PHOX2A gene, highlighting its various roles in the formation and control of the autonomic and enteric nervous systems, as well as its involvement in congenital conditions and related diseases. Additional information about the gene, its mutations, and genetic testing can be found in various scientific resources and databases, including PubMed, OMIM, and related articles.

Additional Information Resources

  • The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genes and genetic conditions. It is a valuable resource for finding additional information related to the PHOX2A gene and its associated conditions.
  • The Genetic Testing Registry (GTR) is a central online resource that provides information about genetic tests for the PHOX2A gene and other genes. It includes information on the purpose of the test, the method used, and its limitations.
  • The PubMed database contains scientific articles and research papers on the PHOX2A gene, related disorders, and specific mutations or changes associated with these conditions. Searching for “PHOX2A gene” or related terms will yield a wealth of information.

Another valuable resource is the Gene Control Database, which catalogs genes involved in the formation of nerves, muscles, and extraocular eye movements. It lists genes like PHOX2A that play a role in the genetic control of eye muscle formation and movement.

  • The Congenital Fibrosis Gene (CFEOM) Homepage provides information on congenital fibrosis of the extraocular muscles and related disorders. It includes information on the PHOX2A gene and its role in the development and control of the eye muscles.
  • References to scientific articles and other resources relating to the PHOX2A gene and associated conditions can be found on the CFEOM Homepage and in the OMIM database.
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Testing for variants in the PHOX2A gene can be done through genetic testing laboratories and clinics that offer specialized tests for this gene and related disorders.

Tests Listed in the Genetic Testing Registry

The PHOX2A gene plays a crucial role in the formation of extraocular muscles, nerves, and related structures. Mutations in this gene can lead to various conditions, such as congenital fibrosis of the extraocular muscles (CFEOM) and other related disorders.

The Genetic Testing Registry (GTR) catalog provides a comprehensive list of genetic tests for PHOX2A and related genes. These tests can help diagnose and assess the risk of various diseases and conditions associated with PHOX2A gene mutations.

Some of the tests listed in the GTR for PHOX2A include:

  • Gene sequencing
  • Variant analysis
  • Control changes

These tests involve analyzing the genetic sequence of PHOX2A and identifying any changes or variants that may be present. They can provide valuable information about the specific mutations and their impact on overall health and disease risk.

The GTR also provides resources for further information and references. It includes links to scientific databases such as PubMed and OMIM, where researchers can find relevant articles and references related to PHOX2A and its associated disorders.

By listing the tests and related resources, the GTR serves as a valuable tool for researchers and healthcare professionals involved in genetic testing and diagnosis of conditions related to PHOX2A gene mutations.

Scientific Articles on PubMed

The PHOX2A gene is associated with various genetic disorders and plays a crucial role in the development and formation of extraocular muscles and nerves related to eye movement. To understand the impact of mutations and changes in this gene, numerous scientific articles can be found in the PubMed database.

PubMed is a comprehensive catalog of scientific articles related to health and genetics. It provides a wealth of information on the PHOX2A gene, its variants, and associated diseases. This database serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the role of this gene and its impact on health.

Scientific articles listed on PubMed provide detailed insights into the function and control of the PHOX2A gene. They explore the relationship between this gene and congenital disorders, such as congenital fibrosis of the extraocular muscles. These articles also discuss related genes and the cross-talk between different genetic factors involved in the development of eye muscles and nerves.

PubMed offers additional resources, including references and links to other databases such as OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genetic diseases and the specific genes involved. By referring to OMIM and other databases, researchers and clinicians can gather in-depth knowledge about the PHOX2A gene and its implications in various disorders.

Moreover, PubMed enables access to scientific articles that discuss genetic testing and diagnostic methods for analyzing the PHOX2A gene. These articles shed light on the latest advancements in genetic testing, including homeodomain tests, which can detect specific changes or mutations in the PHOX2A gene. Such tests are vital for diagnosing and managing disorders related to this gene.

In conclusion, PubMed serves as a valuable resource for scientific articles and information pertaining to the PHOX2A gene. Its comprehensive catalog of articles sheds light on the role this gene plays in the formation and control of extraocular muscles and nerves. By referring to the scientific articles listed on PubMed, researchers, healthcare professionals, and individuals can gain a deeper understanding of the PHOX2A gene and its implications in various genetic disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic conditions that provides valuable information for the health and scientific community. It serves as a comprehensive database, collecting information from scientific articles and other sources to provide a registry of genes and their related diseases.

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The PHOX2A gene is one of the genes listed in the OMIM catalog. It plays a key role in the formation and function of nerves and muscles, particularly those in the eyes and extraocular muscles.

OMIM provides additional resources and references for further information on the PHOX2A gene and related conditions. It includes scientific articles from PubMed and other databases, as well as genetic testing resources and control databases.

Some of the diseases and conditions associated with PHOX2A gene mutations or variant changes listed in the OMIM catalog include:

  • Congenital fibrosis of the extraocular muscles
  • Other congenital fibrosis disorders

OMIM also provides information on testing and diagnostic tools for these conditions, such as genetic tests and diagnostic tests for extraocular muscles.

In conclusion, OMIM serves as a valuable catalog of genes and genetic conditions. The information provided on the PHOX2A gene and related diseases can be used by healthcare professionals, researchers, and individuals seeking to learn more about these conditions. OMIM provides a comprehensive collection of scientific articles, databases, and resources to support further research and understanding of these genetic diseases.

Gene and Variant Databases

The PHOX2A gene plays a critical role in the regulation of genes involved in the formation of muscles, nerves, and eyes. Changes or mutations in this gene can lead to various congenital conditions and diseases, such as extraocular muscle fibrosis.

To catalog and control the genetic variants and mutations associated with the PHOX2A gene and related disorders, several databases and resources have been developed. These databases serve as scientific repositories of information on genes, variants, and their impact on health.

Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive database that provides detailed information about genes and genetic disorders. It includes a collection of articles, references, and scientific resources related to the PHOX2A gene and its associated diseases. OMIM also provides additional information on the control and regulation of genes and variants.

PubMed

PubMed is a widely used database of scientific articles and research papers. It contains a vast collection of publications related to the PHOX2A gene, its variants, and associated diseases. Researchers and healthcare professionals can access this database to find the latest research and studies on the gene, mutations, and related health conditions.

Gene and Variant Registry

The Gene and Variant Registry is a database specifically designed for cataloging and organizing genetic variants and their associated diseases. It provides a centralized platform for researchers and clinicians to access information on genes, variants, and their clinical significance. The registry includes specific entries for the PHOX2A gene and related disorders.

Homeodomain Databases

Homeodomain databases focus on genes and variants associated with homeobox domain-containing proteins. These proteins are crucial in the development and regulation of genes involved in various biological processes, including embryonic development. Researchers studying the PHOX2A gene can use these databases to explore its role and interactions with other genes and proteins.

In conclusion, gene and variant databases serve as valuable resources for researchers and healthcare professionals to access information on genes, variants, and related diseases. The databases mentioned above, such as OMIM, PubMed, Gene and Variant Registry, and Homeodomain Databases, provide a wealth of information on the PHOX2A gene and its associated variants, mutations, and disorders.

References

  • Genes related to PHOX2A: PHOX2B, PHOX2C, HAND2, RET, GATA2
  • Scientific articles on PHOX2A gene: PubMed
  • Control of nerves and muscles: PubMed articles
  • Disorder related to PHOX2A gene: Congenital fibrosis of the extraocular muscles
  • Additional diseases associated with PHOX2A gene: OMIM
  • Homeodomain variant of PHOX2A: OMIM database
  • Tests for PHOX2A gene: Genetic testing resources
  • Registry for PHOX2A-related diseases: Congenital fibrosis of the extraocular muscles
  • Catalog of PHOX2A-related diseases: OMIM database
  • Formation and changes in PHOX2A gene: OMIM

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