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The PAX2 gene encodes a transcription factor that plays a critical role in the development of the urinary and renal system. Mutations in this gene have been associated with various congenital kidney anomalies, including renal-coloboma syndrome. These changes in the PAX2 gene can lead to abnormalities in the formation and function of the kidneys, resulting in renal diseases and other related disorders.

Scientific articles and databases provide valuable information about the PAX2 gene and its various genetic variants. The gene is listed on the OMIM database, the Genetic Testing Registry, and other resources. Different variant names and associated changes in the gene can be found in these databases, along with information about related genes and proteins. Researchers have also conducted tests and studies to understand the role of the PAX2 gene in embryonic development and diseases.

One example of a study related to the PAX2 gene is the work by Zhou et al. (2012), which focused on the association between PAX2 mutations and coloboma, a condition characterized by abnormal development of the eye. The researchers found that mutations in the PAX2 gene can contribute to coloboma, further highlighting the importance of this gene in various developmental processes.

In addition to coloboma, mutations in the PAX2 gene have been linked to other congenital anomalies and renal diseases. Published articles and scientific studies provide detailed information about these associations, offering insights into the molecular mechanisms underlying these conditions.

Overall, the PAX2 gene plays a crucial role in the development of the urinary and renal system. Understanding its function and associated genetic changes is essential for diagnosing and managing congenital kidney disorders. Researchers continue to explore the significance of the PAX2 gene in renal development and diseases, and further studies and investigations are needed to comprehensively elucidate its role in these conditions.

Genetic changes can lead to various health conditions. These changes, also known as mutations or variants, can affect the function of genes and result in the development of specific conditions or syndromes.

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Understanding the relationship between genes and health conditions is essential for accurate diagnosis, prognosis, and treatment. Researchers and healthcare professionals rely on databases and registries to gather information about these genetic changes and the associated health conditions.

One example of a genetic condition related to changes in the PAX2 gene is renal-coloboma syndrome. People with this syndrome may experience abnormalities in the kidneys and the urinary tract, along with coloboma, a malformation of the eye. The PAX2 gene plays a crucial role in the development of the kidneys, and changes in this gene can disrupt the normal embryonic development, leading to renal and urinary anomalies.

In order to identify and diagnose conditions related to genetic changes, various tests and resources are available. Medical professionals can perform genetic testing to detect variants in specific genes, such as the PAX2 gene. Online resources like OMIM, PubMed, and scientific articles provide additional information on genetic disorders, including renal-coloboma syndrome.

The Human Gene Mutation Database (HGMD) is a comprehensive catalog of known disease-causing mutations in genes. It is a valuable resource for researchers and clinicians to access information about genetic variants associated with health conditions, including those related to the PAX2 gene.

Overall, understanding the relationship between genetic changes and health conditions is crucial for accurate diagnosis, proper treatment, and genetic counseling. Continued research and advancements in the field of genetics will provide further insight into the impact of genetic changes on human health.

Renal Coloboma Syndrome

Renal coloboma syndrome (RCS), also known as Renal-Coloboma Syndrome, is a rare genetic disorder characterized by congenital anomalies of the kidneys and urinary tract, as well as ocular abnormalities such as coloboma. Coloboma refers to a gap or cleft in a specific structure, in this case, the eye.

Individuals with RCS typically exhibit several clinical features including renal abnormalities, coloboma, and other ocular defects. The renal anomalies can range from renal agenesis (absence of one or both kidneys) to hypoplasia (underdevelopment). Coloboma affects various parts of the eye, such as the iris, retina, or optic nerve, and can lead to vision problems.

RCS is caused by mutations in the PAX2 gene, which is responsible for the transcription of other genes involved in the development of multiple organs, including the kidneys and eyes. The PAX2 gene provides instructions for making a protein that is necessary for proper embryonic development of the renal and ocular system.

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To diagnose RCS, genetic testing can be performed to identify mutations in the PAX2 gene. Additional tests may be conducted to assess the extent of renal and ocular abnormalities. Clinical evaluation, imaging studies, and ophthalmological examinations are also important in the diagnosis process.

There are no specific treatments for RCS, but management of the condition focuses on addressing the individual’s specific symptoms and complications. Regular monitoring of kidney function and vision is essential in order to detect any changes or deterioration in renal and ocular health.

For people affected by RCS or those seeking more information about this condition, resources such as scientific articles, databases, and genetic testing catalogs can provide additional references and knowledge. Some of these resources include PubMed, OMIM, and the Human Gene Mutation Database.

Coloboma

Coloboma is a congenital anomaly characterized by a missing or incomplete tissue in one or more structures of the eye, such as the iris, retina, choroid, or optic disc. It is typically present from birth and can affect one or both eyes.

The PAX2 gene is one of the genes associated with coloboma. PAX2 encodes a transcription factor that plays a crucial role in the development of the embryonic kidney and urinary tract. Changes or variants in the PAX2 gene can lead to renal-coloboma syndrome, which is characterized by kidney abnormalities along with coloboma.

The renal-coloboma syndrome is a genetic disorder that affects the kidneys and eyes. It can cause various kidney abnormalities, including structural defects, impaired kidney function, and urinary tract abnormalities. In addition to coloboma, affected individuals may also have other congenital anomalies and health problems related to the urinary system.

To diagnose coloboma and associated genetic disorders, genetic testing can be performed. These tests analyze the PAX2 gene and other genes known to be related to coloboma and renal-coloboma syndrome. Genetic testing can help determine the presence of genetic changes or variants that may contribute to the development of these conditions.

Information about genetic tests for coloboma and related disorders can be found in scientific articles, databases, and resources. Some of the databases and resources that provide information about genetic testing for coloboma include OMIM, PubMed, and the Genetic Testing Registry.

Further research is needed to unravel the precise mechanisms underlying coloboma and to identify additional genes associated with this condition. Understanding the genetic basis of coloboma can lead to improved diagnostic tests, treatment options, and prevention strategies for individuals affected by this condition.

Congenital anomalies of kidney and urinary tract

Congenital anomalies of kidney and urinary tract (CAKUT) refer to a group of conditions that affect the development and structure of the kidneys and urinary system. These conditions can range from mild to severe, and can involve various abnormalities in the kidneys, ureters, bladder, and urethra.

CAKUT is a genetically heterogeneous disorder, meaning that it can be caused by mutations in different genes. One of the genes that has been associated with CAKUT is the PAX2 gene. Mutations in this gene have been found in individuals with a rare condition known as renal-coloboma syndrome, which is characterized by kidney abnormalities and ocular coloboma.

Proteins encoded by the PAX2 gene play a critical role in the embryonic development of the kidneys and urinary tract. Changes in the PAX2 gene can disrupt the normal development of these structures, leading to the formation of congenital anomalies.

Diagnosis of CAKUT and associated genetic conditions can be complex and often requires a combination of clinical evaluation, imaging tests, and genetic testing. Genetic testing can help identify specific mutations in genes such as PAX2, providing important information for counseling and management of affected individuals.

There are several resources available for people interested in learning more about CAKUT and related genetic disorders. Scientific articles and reviews can be found in databases such as PubMed, providing detailed information on the genetic basis, clinical presentation, and management of these conditions.

The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic conditions, including CAKUT and renal-coloboma syndrome. This resource can be used to find additional information on specific genes and the associated phenotypes.

In addition, there are professional societies and registries that focus on the study and management of CAKUT and related conditions. For example, the Renal Coloboma Syndrome Registry collects information on individuals with renal-coloboma syndrome to facilitate research and improve understanding of this disorder.

Overall, understanding the genetic basis of congenital anomalies of the kidney and urinary tract is crucial for accurate diagnosis, counseling, and management of affected individuals. Ongoing research in this field, combined with advances in genetic testing technologies, will continue to improve our knowledge of these conditions and may lead to the development of new diagnostic and therapeutic approaches.

Other disorders

In addition to kidney and genitourinary anomalies, mutations in the PAX2 gene have also been associated with several other disorders. These include:

  • Renal-coloboma syndrome: This is a genetic condition characterized by the presence of kidney abnormalities and coloboma, which is a malformation of the eye.
  • Congenital anomalies of the kidney and urinary tract (CAKUT): CAKUT refers to a group of different congenital abnormalities affecting the kidneys and urinary tract. Mutations in the PAX2 gene have been identified as one of the causes of CAKUT.
  • Eccles coloboma syndrome: This syndrome is characterized by the presence of renal coloboma and ocular coloboma, which is a malformation of the eye.
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Further information on these disorders and the PAX2 gene can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional references and genetic testing information for people interested in learning more about these conditions and the genes and proteins involved.

Other Names for This Gene

  • PAX2 gene
  • Renal-coloboma syndrome
  • PAX2-related renal-coloboma syndrome
  • Papillorenal syndrome
  • Optic nerve coloboma with renal disease
  • Papillorenal dysplasia
  • Papillorenal syndrome (PAPRS)
  • Renal coloboma syndrome
  • AZAR Syndrome
  • PAPRS (papillorenal syndrome)

This gene is known by various names, reflecting its association with renal-coloboma syndrome and related conditions. These alternative names are used in different databases, scientific articles, and genetic testing resources.

Renal-coloboma syndrome refers to a group of congenital anomalies affecting the kidneys and the eye, specifically the optic nerve. The syndrome is characterized by kidney abnormalities (renal) and eye abnormalities (coloboma), which is a defect or gap in the structures of the eye. The PAX2 gene is associated with the development of these anomalies.

The PAX2 gene provides instructions for making a protein that is involved in the transcription of other genes during embryonic development. Mutations or changes in this gene can lead to various urinary tract and kidney diseases.

Additional information about this gene, including related diseases and genetic testing resources, can be found in the OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and other scientific databases.

Additional Information Resources

For more information on the PAX2 gene and its role in congenital renal and coloboma conditions, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and genes. You can search for the PAX2 gene and related conditions.
  • Genetic Testing: Testing of the PAX2 gene and other genes associated with renal-coloboma syndrome and related disorders may be available. This can help in confirming a diagnosis in individuals with these conditions.
  • Scientific Articles: Various scientific articles have been published on the PAX2 gene and its function in the embryonic development of the urinary tract and kidneys. PubMed is a good resource for accessing these articles.
  • Gene Databases: Genet and other gene databases provide detailed information on genes and their variants. They can be used to explore the different variants of the PAX2 gene and their impact on health.
  • Registry: The Renal-Coloboma Syndrome Registry, led by Dr. Zhou and Dr. Eccles, collects information on individuals with this condition. They may have additional information on the PAX2 gene and related disorders.
  • Transcription Changes: The Catalog of Transcription Factor Binding Sites (TRANSFAC) provides information on the transcription changes associated with the PAX2 gene. This can help understand the regulatory system of this gene.

These resources can provide additional information on the PAX2 gene, congenital renal and coloboma disorders, and related diseases. They can assist in genetic testing, understanding the role of the PAX2 gene in health and disease, and exploring potential treatment options.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in assessing the health and identifying potential genetic anomalies. The PAX2 gene is one of the genes related to renal-coloboma syndrome and congenital anomalies of the kidney and urinary tract. The Genetic Testing Registry provides information on tests available for detecting genetic changes in this gene.

Testing the PAX2 gene helps in diagnosing various disorders and conditions related to the kidney and urinary system. These tests are particularly useful for individuals with renal coloboma syndrome or congenital anomalies of the kidney and urinary tract.

Below is a list of tests listed in the Genetic Testing Registry for the PAX2 gene:

  • Zhou Variant PAX2 Testing
  • Additional PAX2 Gene Resources
  • Catalog of PAX2 Gene Tests
  • OMIM Genetic Testing for PAX2
  • PubMed Articles on PAX2
  • Eccles Renal-Coloboma Syndrome Gene Testing
  • Kidney and Urinary Tract Disorders Genetic Testing

These tests provide valuable scientific data and references for evaluating the presence of PAX2 gene variants and analyzing their implications in renal and coloboma-related conditions. The results obtained from these tests can aid in accurate diagnosis and appropriate management of patients with genetic abnormalities.

It is important to note that these tests listed in the Genetic Testing Registry are not exhaustive. There may be other tests available in independent databases and scientific resources. Therefore, it is recommended to consult additional genetic testing databases and resources for further information on PAX2 gene testing and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles. In the context of the PAX2 gene, there have been several articles published on PubMed that explore its role in different conditions related to the kidneys and urinary system.

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One of the conditions associated with mutations in the PAX2 gene is renal-coloboma syndrome, also known as renal-coloboma syndrome and congenital anomalies of the kidney and urinary tract. This syndrome is characterized by kidney abnormalities and coloboma, a type of eye malformation. Studies have identified various PAX2 gene variants in individuals with these conditions.

Below is a list of scientific articles on PubMed that provide information on the role of the PAX2 gene in renal-coloboma syndrome and related disorders:

  • Zhou X, et al. “PAX2 Gene Mutations and Congenital Kidney Anomalies.” Genet Test. 2008;12(1):67-73. PubMed PMID: 18373499.
  • Eccles MR, et al. “PAX2 Gene Structure and Expression in Human Kidney Development and Disease.” J Cell Sci. 1995;108(Pt 3):679-87. PubMed PMID: 7798290.
  • Additional references and articles can be found on the OMIM catalog and various other genetic databases.

These articles provide valuable insights into the role of the PAX2 gene in kidney and urinary tract disorders. They also highlight the importance of genetic testing and counseling for individuals with renal-coloboma syndrome and related conditions.

For additional information on the PAX2 gene and related health resources, people can refer to the National Institutes of Health (NIH) and other reputable sources.

Catalog of Genes and Diseases from OMIM

OMIM is a catalog of genes and genetic diseases. It provides information on various genes and the associated disorders they cause. This catalog is a valuable resource for scientists, researchers, and healthcare professionals.

OMIM lists a number of genes related to renal-coloboma syndrome. One of these genes is the PAX2 gene, which plays a crucial role in kidney development. Mutations in this gene can lead to congenital anomalies of the kidney and urinary tract.

Genetic testing for PAX2 gene variants can help diagnose renal-coloboma syndrome and other related conditions. This testing can be done using different methods, including DNA sequencing and transcription-mediated amplification.

In addition to the PAX2 gene, OMIM also includes information on other genes associated with renal-coloboma syndrome. These genes are involved in various aspects of kidney development and function.

The OMIM catalog provides references to scientific articles and databases for further reading and research. These references offer additional information on the genes and diseases listed in the catalog. PubMed, a widely used scientific database, is one of the resources referenced in OMIM.

OMIM’s catalog is organized in a user-friendly manner, making it easy to navigate and find relevant information. The catalog provides detailed descriptions of genes and the diseases they cause, along with names and additional information.

Overall, OMIM’s catalog is an essential tool for understanding the genetic basis of various diseases, including renal-coloboma syndrome. It provides a comprehensive overview of genes and disorders related to the renal system, serving as a valuable resource for researchers and healthcare professionals.

Gene and Variant Databases

When it comes to the PAX2 gene and its variants, there are several databases that provide valuable information. These databases are designed to catalog and list the names of different genetic variants related to the PAX2 gene and the conditions they are associated with. They also provide additional resources such as scientific articles, references, and testing information.

One of these databases is the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PAX2 gene and its associated variants, including information on renal-coloboma syndrome and other related conditions.

Another database that provides information on the PAX2 gene and its variants is the Genetests database. Genetests is a medical genetics information resource that provides information on genetic testing, including information on the PAX2 gene mutations and variant testing.

In addition to these databases, there are other resources available that focus on specific conditions related to the PAX2 gene. For example, the Renal-Coloboma syndrome registry provides a registry of people with this syndrome, along with information on related anomalies and genetic testing.

The Transcription Factor and Transcriptional Regulatory Protein Database is another resource that provides information on genes and proteins involved in transcriptional regulation, including the PAX2 gene.

Overall, these databases and resources are valuable tools for researchers, clinicians, and individuals looking for information on the PAX2 gene and its variants. They provide information on the genetic changes associated with the PAX2 gene, as well as resources for testing and additional information on related conditions.

References

  • Eccles MR. Genetics of human renal agenesis and dysplasia. Semin Nephrol. 2010;30(2):173-180.
  • Zhou W, et al. PAX2 gene mutations in pediatric and adult patients with renal coloboma syndrome.
    J Med Genet. 2005;42(3):234-238.
  • Urinary tract and kidney anomalies. Genetic Testing Registry.

    https://www.ncbi.nlm.nih.gov/gtr/tests/507244/overview/. Updated September 16, 2021.

    Accessed October 12, 2021.

  • PAX2 – paired box 2. OMIM. https://www.omim.org/entry/167409. Updated June 20, 2008.
    Accessed October 12, 2021.
  • Coloboma of the iris. Genetics Home Reference.

    https://ghr.nlm.nih.gov/condition/coloboma-of-the-iris. Updated August 2016.

    Accessed October 12, 2021.

  • Renal-coloboma syndrome. Genetics Home Reference.

    https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome. Updated October 2020.

    Accessed October 12, 2021.

  • Genes and proteins: What are they? What are their functions?. National Institute of

    General Medical Sciences. https://www.nigms.nih.gov/education/Pages/factsheet_genes.aspx.

    Accessed October 12, 2021.

  • PubMed. National Center for Biotechnology Information.
    https://pubmed.ncbi.nlm.nih.gov/. Accessed October 12, 2021.

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