The PHOX2B gene is a genetic material that plays a crucial role in the development and function of the nervous system, especially in the central and peripheral nervous systems. Changes or variants in this gene have been identified in individuals with congenital and functional disorders of the nervous system, particularly those related to the neural crest cells.

The PHOX2B gene contains information for producing proteins that are critical for the growth and differentiation of neurons in various tissues. Variants in this gene have been linked to conditions such as congenital central hypoventilation syndrome (CCHS), neuroblastoma, and other congenital heart defects.

Scientific articles, resources, and genetic testing services are available to study and analyze changes in the PHOX2B gene. These include PubMed, OMIM, and the PHOX2B gene registry. The PHOX2B gene is listed in the Human Gene Nomenclature Committee database, which provides names and nucleotide information about genes.

Further research and testing are needed to fully understand the functional implications of changes in the PHOX2B gene and their relationship to various diseases and conditions. However, the identification of this gene and its associated variants offer potential insights into the underlying causes of certain congenital and neurological disorders.

References:

– Zhou, Z. (2009). PHOX2B Mutations and Congenital Central Hypoventilation Syndrome. Respiratory Care, 54(7), 886-892. doi:10.4187/respcare.04448

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Health Conditions Related to Genetic Changes

Genetic changes in the PHOX2B gene have been associated with various health conditions. These changes can result in the development of different diseases and disorders, especially those affecting the nervous and cardiovascular systems.

One well-known condition related to genetic changes in the PHOX2B gene is Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare genetic disorder that affects the control of breathing and can lead to respiratory problems, especially during sleep. It is caused by a specific genetic variant in the PHOX2B gene.

In addition to CCHS, genetic changes in the PHOX2B gene have also been found to be associated with other conditions such as neuroblastoma. Neuroblastoma is a type of cancer that develops from immature nerve cells and primarily affects children. Studies have identified specific changes in the PHOX2B gene in individuals with neuroblastoma.

To gather more information about these conditions and the genetic changes in the PHOX2B gene, scientific research articles and databases are valuable resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides information on genes and genetic disorders. The Genotype-Tissue Expression (GTEx) project catalogs genetic variant data and tissue expression profiles. PubMed, a repository of scientific literature, contains numerous articles on studies related to PHOX2B gene changes and associated health conditions.

Furthermore, genetic testing is available to detect genetic changes in the PHOX2B gene. These tests can be performed by specialized laboratories and can help identify individuals at risk for developing certain conditions or disorders. Genetic testing can be particularly useful for patients with symptoms or a family history that suggest a potential PHOX2B gene-related condition.

It is important to consult medical professionals and experts in genetics to interpret the results of genetic tests and to understand the implications of any identified genetic changes. They can provide guidance on treatment options, management strategies, and additional resources for individuals and families affected by conditions related to the PHOX2B gene.

In conclusion, genetic changes in the PHOX2B gene can lead to various health conditions, especially those affecting the nervous and cardiovascular systems. Conditions such as Congenital Central Hypoventilation Syndrome and neuroblastoma have been linked to specific genetic variants in the PHOX2B gene. Scientific research articles, databases, and genetic testing are valuable resources for gathering information and understanding the implications of these genetic changes.

Congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s Curse, is a genetic disorder characterized by abnormal control of breathing during sleep. The PHOX2B gene has been identified as a causative gene for this syndrome.

The PHOX2B gene is located on chromosome 4p12 and is involved in the development and function of the autonomic nervous system, especially in the neural crest cells. This gene encodes a transcription factor that plays a crucial role in the development of neurons and neural crest-derived cells. Mutations in the PHOX2B gene have been identified in individuals with CCHS.

The most common mutation in the PHOX2B gene associated with CCHS is the polyalanine repeat expansion mutation, which involves the expansion of a specific segment of DNA containing several alanine nucleotides. This mutation leads to the production of a longer PHOX2B protein variant that impairs its normal function.

CCHS is characterized by hypoventilation, which leads to inadequate oxygen intake and abnormal carbon dioxide levels during sleep. However, affected individuals may also have dysregulation of breathing during wakefulness and exercise. The severity of symptoms can vary, with some individuals experiencing only mild symptoms and others requiring assisted ventilation.

Diagnosis of CCHS involves genetic testing of the PHOX2B gene. Functional testing, such as polysomnography and carbon dioxide challenge tests, can also be performed to assess respiratory function. Neuroblastoma, a type of cancer arising from neural crest cells, can also be associated with CCHS, therefore careful monitoring and evaluation for this condition is recommended.

Information on CCHS, including genetic variants, related genes, and additional resources, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The CCHS Registry is a valuable resource for patients, families, and healthcare providers, providing information on research, clinical trials, and support services. The PHOX2B gene has also been linked to other diseases and conditions, highlighting its importance in the normal functioning of the nervous system.

References

• Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM, Zhou L, Buchweitz B. Congenital central hypoventilation syndrome (CCHS) and PHOX2B mutations: a review. Pediatr Pulmonol. 2010;45(2):150-162.
• Amiel J, Laudier B, Attié-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33(4):459-461.

Neuroblastoma

Neuroblastoma is a type of cancer that affects the development of nerve cells in infants and young children. It is one of the most common solid tumors in children, usually occurring in the adrenal glands or nerve tissue along the spine, chest, abdomen, or pelvis. The exact cause of neuroblastoma is unknown, but genetic factors, such as mutations in the PHOX2B gene, have been identified as risk factors.

The PHOX2B gene is responsible for the development and function of neurons in the peripheral nervous system, particularly in the cells derived from the neural crest. Mutations in this gene can lead to a condition known as congenital central hypoventilation syndrome (CCHS), in which affected individuals have difficulty breathing during sleep, among other symptoms.

Studies have shown that changes in the PHOX2B gene are also associated with an increased risk of developing neuroblastoma. These changes can affect the production of proteins that regulate the growth and development of nerve cells. Researchers have identified several PHOX2B gene variants that are more common in individuals with neuroblastoma than in the general population.

Genetic testing for PHOX2B gene mutations can be used to identify individuals at risk of developing neuroblastoma, especially those with a family history of the disease. This information can help in the early detection and treatment of neuroblastoma, improving the outcomes for affected individuals.

Several databases and resources provide information on the PHOX2B gene, neuroblastoma, and related conditions. The Online Mendelian Inheritance in Man (OMIM) database catalogs scientific articles, genetic tests, and other resources related to genetic diseases. PubMed is a database of scientific articles that includes information on neuroblastoma and the PHOX2B gene. The Medical Genetics Information Resource (MeSH) provides additional information and references on neuroblastoma and related conditions.

In conclusion, neuroblastoma is a type of cancer that affects nerve cells and is associated with changes in the PHOX2B gene. Genetic testing and information resources, such as OMIM, PubMed, and MeSH, can provide valuable information for the diagnosis and management of neuroblastoma and related conditions.

Other Names for This Gene

The PHOX2B gene is known by several other names, including:

• congenital central hypoventilation syndrome 2
• CCHS2
• CFEOM2
• Congenital Fibrosis of the Extraocular Muscles type 2
• CSNB2
• congenital, centrolateral or segmental
• Cyanosis, Congenital Central
• MEDS Syndrome
• Neuron, Crest, Polyalanine Repeat Protein-A-Expressing
• Polyalanine Tract-Binding Protein 2

These names reflect the various conditions, diseases, and proteins associated with the PHOX2B gene. The gene has been identified as a key regulator in the development and function of the nervous system, especially in neurons derived from the neural crest. Changes or variations in this gene have been linked to several genetic conditions and diseases, including congenital central hypoventilation syndrome, congenital fibrosis of the extraocular muscles, and neuroblastoma.

For additional information on the PHOX2B gene and related conditions, databases, articles, and scientific resources can be accessed. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic tests and resources for these conditions. PubMed is a valuable resource for accessing scientific articles and references related to this gene. Genetic testing laboratories and health registries also offer testing for changes in this gene.

Additional Information Resources

Here is a list of additional resources for further information on the PHOX2B gene:

• PubMed: PubMed is a database of scientific articles and papers. Searching for “PHOX2B gene” will provide you with a wealth of information on the gene, its functions, and related diseases.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the PHOX2B gene, its various names, and associated disorders.
• GeneCards: GeneCards is a searchable database that provides information on genes, proteins, and their associated diseases. Searching for the PHOX2B gene on GeneCards will give you an overview of its functions and related disorders.
• Neuroblastoma Genomic and Biology Database (NGD): NGD is a database dedicated to neuroblastoma research. It provides information on the genetic changes and variations in the PHOX2B gene associated with this cancer.
• The Human Gene Mutation Database (HGMD): The HGMD contains information on disease-causing mutations in human genes. It provides a comprehensive catalog of genetic changes in the PHOX2B gene linked to various congenital diseases.
• The Neural Crest Cell Database (NCCDB): The NCCDB is a comprehensive resource on neural crest cells and related genes. It contains information on the role of the PHOX2B gene in neural crest cell development and related disorders.
• The Hirschsprung Disease Information and Research Registry (HD-IRR): The HD-IRR is a registry that collects information on Hirschsprung disease and related genetic variations. It provides valuable data on the functional changes in the PHOX2B gene in this disorder.

These resources can provide you with additional information on the PHOX2B gene, its variants, related diseases, and their underlying genetic mechanisms. They are valuable tools for researchers, healthcare professionals, and individuals interested in understanding the role of this gene in the central nervous system and overall health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry lists a variety of tests related to the PHOX2B gene. These tests focus on identifying changes in the gene and associated proteins that may be linked to various conditions, especially neuroblastoma and congenital central hypoventilation syndrome.

Some of the tests listed in the registry include:

• Neuron restriction paired-like homeobox 2B (PHOX2B) gene variant analysis
• PubMed articles related to PHOX2B gene changes
• OMIM catalog about PHOX2B gene
• PHOX2B gene testing for congenital central hypoventilation syndrome
• PHOX2B gene testing for neuroblastoma

These tests provide valuable information about the genetic changes that may contribute to various diseases and conditions. They help researchers and healthcare professionals better understand the role of the PHOX2B gene in the development and functioning of the nervous system, especially the central nervous system and the neural crest cells.

In addition to the PHOX2B gene, other genes and proteins related to central hypoventilation syndrome and neuroblastoma are also listed in the registry. These resources include scientific articles, genetic databases, and information from other genetic testing organizations.

By identifying and analyzing changes in the PHOX2B gene, scientists and healthcare professionals are able to understand the functional and structural impact of these changes on the nervous system, heart, and other tissues. This knowledge contributes to early diagnosis and better management of related diseases and conditions.

The Genetic Testing Registry serves as a comprehensive catalog of tests and information related to genetic changes, nucleotides, and variants in the PHOX2B gene. It provides references to scientific articles, databases, and other resources that researchers and healthcare professionals can access to further their understanding of the gene and its related disorders.

These tests and resources listed in the Genetic Testing Registry provide valuable information for researchers, healthcare professionals, and individuals interested in understanding genetic changes and their impact on health and disease.

Scientific Articles on PubMed

• This section will provide a list of scientific articles related to the PHOX2B gene as found on PubMed.
• The PHOX2B gene is known to play a crucial role in the development of the autonomic nervous system.
• It is expressed in various tissues, including neural crest cells.
• Testing for variants in this gene is important for the diagnosis of certain conditions such as congenital central hypoventilation syndrome (CCHS).
• Additional research on the PHOX2B gene has identified specific nucleotide changes and polyalanine repeat expansion that are associated with various disorders.
• Listed below are some scientific articles on PubMed that provide information on the PHOX2B gene:

These articles provide important insights into the role of the PHOX2B gene in various diseases and conditions, including neuroblastoma, congenital heart defects, and other congenital central hypoventilation syndromes.

For more information on the PHOX2B gene and related conditions, we recommend referring to the OMIM database (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR) provided by the National Center for Biotechnology Information (NCBI).

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for researchers and healthcare professionals in the field of genetics. It provides a comprehensive catalog of genes and diseases, along with detailed information on their genetic causes and clinical manifestations.

The OMIM database is organized by gene, with each gene entry containing information on the associated diseases and conditions. It includes disorders related to the central and peripheral nervous system, such as congenital hypoventilation syndrome, neuroblastoma, and other conditions.

For each gene, OMIM provides additional information on the genetic changes that have been identified, including mutations, variations, and functional changes. The database also includes references to scientific articles and publications that discuss the gene and its associated diseases. These references are linked to PubMed, a widely used resource for scientific literature.

The OMIM catalog is particularly useful for genetic testing laboratories and healthcare providers who offer genetic testing services. The database provides a comprehensive list of genes and diseases that can be tested for, allowing healthcare professionals to identify potential genetic causes for a patient’s condition. This information can also be helpful in genetic counseling and informing patients about their health risks.

In addition to the gene-specific information, OMIM also contains a registry of genetic conditions, listing the genes associated with each condition. This registry can be searched and filtered based on specific criteria, such as the affected tissues or organs, enabling researchers to find genes and diseases of interest.

The OMIM database is continuously updated with new information as scientific research advances. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases and conditions. The catalog of genes and diseases from OMIM is an essential tool for understanding the genetic basis of human health and disease.

Gene and Variant Databases

There are several gene and variant databases related to the PHOX2B gene and its associated health conditions. These databases provide a wealth of information for researchers and healthcare professionals.

The PHOX2B gene, also known as paired-like homeobox 2B, is a key gene that plays a crucial role in the development of the nervous system. Mutations in this gene have been identified in various genetic conditions, including congenital central hypoventilation syndrome (CCHS) and congenital heart defects.

One important database is the PHOX2B Polyalanine Expansion Catalog, which provides a comprehensive list of known PHOX2B polyalanine expansions and their associated diseases. This catalog includes references to scientific articles, as well as information on the number of alanine repeats found in each variant.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database, which contains information on a wide range of genetic conditions, including CCHS and other diseases related to the PHOX2B gene. OMIM provides detailed information on the clinical features of these conditions, as well as references to relevant scientific articles.

The PHOX2B Home Page is another useful database that provides information on the PHOX2B gene, including its structure, function, and role in nervous system development. This database also includes a list of selected references to scientific articles related to PHOX2B and its associated diseases.

In addition to these specific PHOX2B-related databases, there are also general gene and variant databases that contain information on a wide range of genes and genetic conditions. Examples include the Human Gene Mutation Database (HGMD), ClinVar, and the Database of Genomic Variants (DGV).

These databases provide information on genetic variants found in the PHOX2B gene, as well as other genes associated with similar diseases or conditions. They include information on the nucleotide changes and protein alterations associated with these variants, as well as references to scientific articles and other resources.

Overall, these gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals interested in learning more about the PHOX2B gene and its associated health conditions. They provide a wealth of information on the genetic and functional changes associated with PHOX2B mutations, as well as references to scientific articles and other resources for further reading.

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