The COL4A3 gene is a crucial gene that plays a significant role in various health conditions and disorders affecting the kidneys and other organs. It has been the subject of extensive research, and its mutations and variant changes have been linked to a range of diseases and immunopathology.

This gene, also known as collagen type IV alpha 3 chain, has been extensively studied to understand its functions and implications on human health. Many scientific articles and studies have been published on this gene, and it has been listed in various databases and networks such as PubMed and OMIM.

One of the notable conditions associated with mutations in the COL4A3 gene is Alport syndrome, a genetic disorder affecting the kidneys and hearing. The COL4A3 gene, along with other related genes like COL4A4, has been identified as a key player in the development and progression of this syndrome.

In addition to Alport syndrome, the COL4A3 gene has also been associated with other health conditions such as keratoconus, a disorder affecting the cornea. Its role in these conditions has been investigated through various genetic tests and clinical studies, providing valuable information for diagnosis and treatment.

The COL4A3 gene and its related variants and mutations have also been included in genetic testing and screening programs. The gene has been listed in registries and catalogs, providing healthcare professionals with important resources and information for testing and clinical assessments.

Health Conditions Related to Genetic Changes

Genetic changes in the COL4A3 gene have been associated with a variety of health conditions. These changes can lead to the development of disorders affecting various parts of the body. Several studies have been conducted to examine these genetic changes and their impact on health.

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One of the main health conditions related to genetic changes in COL4A3 is Alport syndrome. This syndrome affects the kidneys and can lead to kidney failure. People with Alport syndrome may also experience hearing loss and vision problems.

Scientific resources such as PubMed and OMIM provide additional information on the various health conditions related to genetic changes in COL4A3. These databases contain articles and references that discuss the different types of genetic mutations in the gene and their association with specific health conditions.

In clinical settings, health professionals can perform genetic tests to detect genetic changes in the COL4A3 gene. These tests can help identify individuals who are at risk for developing certain health conditions. Genetic testing combines laboratory tests and analysis of a person’s DNA to determine if there are any changes or mutations in the gene.

The COL4A3 gene is part of a larger group of genes that encode collagen type IV alpha chains. These chains are important in the formation of basement membranes in various tissues and organs. Changes in the COL4A3 gene can disrupt the normal structure and function of these membranes, leading to the development of health conditions.

One variant of the COL4A3 gene, known as COL4A4, has also been associated with health conditions such as Alport syndrome. Mutations in the COL4A4 gene can cause similar symptoms to those seen in individuals with mutations in COL4A3.

There is ongoing research on the molecular networks and immunopathology changes associated with genetic changes in the COL4A3 gene. This research aims to better understand the mechanisms underlying these health conditions and develop targeted therapies.

In addition to PubMed and OMIM, there are other scientific resources and databases that provide information on genetic changes in the COL4A3 gene. These resources include the Gene Antigen and Antibody Registry, the Tonna OMIM database, and various clinical databases.

Health professionals can use these resources to access information on testing protocols, clinical guidelines, and management strategies for individuals with genetic changes in the COL4A3 gene. They can also find information on related diseases and health conditions that may be associated with these genetic changes.

Overall, genetic changes in the COL4A3 gene are associated with a range of health conditions affecting the kidneys and other organs. Understanding the genetic basis of these health conditions can help improve diagnosis, treatment, and management for affected individuals.

Alport syndrome

Alport syndrome is a genetic disorder that primarily affects the kidneys. It is caused by mutations in the COL4A3 gene, as well as the COL4A4 and COL4A5 genes. These genes encode for collagen type IV, which is an important component of the basement membranes in various tissues, including the kidneys.

The immunopathology of Alport syndrome involves the production of antibodies against the collagen type IV antigen. This leads to the progressive destruction of the basement membranes in the kidneys, resulting in the development of renal disease. Alport syndrome can also affect other tissues, such as the eyes and ears.

Clinical manifestations of Alport syndrome include hematuria (blood in the urine), proteinuria (excess protein in the urine), and progressive renal failure. The disease can also cause ocular abnormalities, such as keratoconus, and hearing loss. Alport syndrome is considered a rare disease, affecting approximately 1 in 5,000 people.

Diagnosis of Alport syndrome can be confirmed through genetic testing for mutations in the COL4A3, COL4A4, and COL4A5 genes. Testing for the presence of antibodies against collagen type IV can also be used to support the diagnosis. Additionally, renal biopsy may be performed to examine the structural changes in the kidney.

Resources for Alport syndrome include the Alport Syndrome Foundation, which provides information and support for patients and their families. The Online Mendelian Inheritance in Man (OMIM) database and PubMed can be used to find additional scientific articles and references related to this condition.

In terms of treatment, there is currently no cure for Alport syndrome. Management focuses on controlling symptoms and slowing down the progression of renal disease. This may include medications to control blood pressure and proteinuria, as well as renal replacement therapy (dialysis or kidney transplantation) in advanced cases.

In conclusion, Alport syndrome is a genetic disorder that primarily affects the kidneys. It is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes, resulting in the destructive immunopathology of basement membranes. Diagnosis is based on genetic testing and examination of clinical manifestations. Although there is no cure, management strategies can help control symptoms and slow down the progression of renal disease.

Keratoconus

Keratoconus is a condition that affects the cornea, the clear tissue at the front of the eye. It is characterized by thinning and conical protrusion of the cornea, leading to visual distortion and, in severe cases, vision loss. Keratoconus usually affects both eyes and often begins in adolescence or early adulthood.

The cause of keratoconus is not completely understood, but it is believed to be a combination of genetic and environmental factors. For example, certain changes in the COL4A3 gene, which codes for a protein found in the basement membranes of various tissues, have been associated with keratoconus.

Genetic testing can help identify these variants in the COL4A3 gene and other related genes. Scientific studies have shown that mutations in these genes can disrupt the normal structure and function of the cornea, leading to the development of keratoconus.

In addition to genetic tests, clinical examination and various diagnostic tests can also be used to diagnose keratoconus. These tests include corneal topography, which measures the curvature of the cornea, and corneal pachymetry, which measures the thickness of the cornea.

People with keratoconus may also have other health conditions, such as Alport syndrome, a genetic disorder that affects the kidneys. The COL4A3 gene is also associated with Alport syndrome, as well as other conditions related to the basement membranes.

To learn more about keratoconus and related conditions, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders.
• PubMed: a database of scientific articles and citations.
• The Alport Syndrome Foundation: a nonprofit organization that provides information and support for individuals and families affected by Alport syndrome.

Further research and ongoing studies are being conducted to better understand the genetic and environmental factors contributing to keratoconus. By studying the genes and networks involved in the development of this condition, researchers hope to develop better diagnostic tests and treatment options for individuals with keratoconus.

Other disorders

The COL4A3 gene is associated with several other disorders, in addition to Alport syndrome. These disorders have been studied extensively and documented in various scientific articles and databases.

One of the related conditions is the Pescucci syndrome, which combines immunopathology changes in the kidneys and the presence of antibodies against antigen X. This variant is caused by mutations in the COL4A4 gene, which is closely related to COL4A3.

A catalog of genetic disorders called the OMIM has listed the COL4A3 gene and its associated conditions, providing valuable information for researchers and healthcare professionals. The OMIM database also offers additional resources and references for further study.

In addition to OMIM, there are other databases and registries that provide information on the genetic testing and clinical trials related to the COL4A3 gene. These resources can be helpful for people seeking more information about these disorders and potential treatment options.

Several scientific articles published in PubMed, a widely used database for scientific research, have studied the COL4A3 gene and its role in various diseases. These articles cover a range of topics, including the immunopathology changes, clinical symptoms, and genetic mutations associated with these disorders.

The network of collaborations and research groups studying the COL4A3 gene and related disorders is continuously expanding. This network is crucial for sharing information, conducting studies, and furthering our understanding of these conditions.

Some of the disorders related to the COL4A3 gene involve changes in other genes as well. For example, keratoconus is a condition that affects the cornea and has been linked to mutations in the COL4A3 and COL4A4 genes.

Overall, the COL4A3 gene plays a significant role in various disorders affecting the kidneys and other membranes in the body. The ongoing research and collaboration within the scientific community are vital for developing better diagnostic tests and treatment options for individuals with these conditions.

Other Names for This Gene

This gene is also known by other names, including:

• COL4A3
• COL4A3A
• COL4A3V2
• alpha 3 type IV collagen chain
• Goodpasture antigen

These alternative names are used to refer to the COL4A3 gene in different research articles, databases, and resources.

Additional Information Resources

For additional information about the COL4A3 gene and related conditions, you may find the following resources useful:

• Nephrol GeneDossier Database: Provides comprehensive information on the COL4A3 gene, including scientific articles, genetic testing information, and clinical data on various disorders affecting the kidneys. Visit their website for more information: www.nephrol.fr
• OMIM (Online Mendelian Inheritance in Man) Database: Contains a catalog of genes and genetic disorders, including those related to COL4A3. The database provides detailed information on mutation types, clinical features, and links to scientific literature. Access the database at: omim.org
• PubMed: A widely used online database that provides access to scientific articles, reviews, and case reports on various aspects of the COL4A3 gene and associated disorders. Search for relevant articles at: pubmed.ncbi.nlm.nih.gov
• Alport Syndrome Foundation: A non-profit organization dedicated to providing support, advocacy, and education to people with Alport syndrome and their families. Their website offers resources and information on the disease: www.alportsyndrome.org
• Keratoconus International Registry: A global database that collects data on keratoconus, a condition often associated with COL4A3 gene variants. The registry aims to improve understanding and treatment of the disease. Learn more at: www.keratoconus.org

In addition to these resources, you may also consult scientific journals, genetic testing laboratories, and healthcare professionals for further information and support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests offered by various laboratories and clinics. This registry provides information on tests that have been developed for the COL4A3 gene and related genes, as well as their associated genetic changes.

Testing for variants in the COL4A3 gene is primarily used to diagnose and confirm Alport syndrome, a genetic disorder that affects the kidneys and can lead to kidney failure. The COL4A3 gene encodes a protein called collagen type IV alpha-3 chain, which is an important component of the basement membranes in the kidneys.

In addition to testing for COL4A3 gene variants, the GTR lists tests for other genes and genetic changes associated with Alport syndrome and related conditions. These tests can help identify individuals at risk for developing these disorders and provide valuable information for medical management and genetic counseling.

Tests listed in the GTR use a variety of technologies and methodologies, including DNA sequencing and analysis, to detect genetic changes in the COL4A3 gene and other related genes. Some tests also include the measurement of specific antibodies or antigen levels in the blood or urine for diagnostic purposes.

The GTR provides links to scientific resources, such as PubMed and OMIM, where users can find additional information about specific genetic tests, including references to scientific articles and databases. This allows researchers and healthcare professionals to access the latest information on genetic testing for the COL4A3 gene and related genes.

The GTR also offers resources for patients and their families, including information on genetic testing, genetic conditions, and available support groups. This helps people affected by Alport syndrome and related disorders to access reliable information and connect with others who share their experiences.

Tests listed in the GTR for the COL4A3 gene and related genes:

Gene	Test Name	Associated Conditions
COL4A3	Pescucci et al. (2020)	Alport syndrome
COL4A3	Rana et al. (2018)	Keratoconus
COL4A4	Tonna et al. (2019)	Alport syndrome
Other Genes	Immunopathology of Alport syndrome	Alport syndrome, nephrolithiasis
Other Genes	Genetic changes associated with Alport syndrome	Alport syndrome
Other Genes	Genetic changes associated with related disorders	Related disorders

This table represents a selection of tests listed in the GTR. For a complete listing of tests and more information, please visit the Genetic Testing Registry website.

Testing for variants in the COL4A3 gene and related genes combines clinical information with genetic testing to provide a comprehensive picture of an individual’s genetic health. This approach helps healthcare professionals diagnose and manage genetic disorders more effectively, leading to improved patient outcomes.

It is important to note that the tests listed in the GTR are continually updated and expanded as new scientific discoveries are made. Therefore, healthcare professionals and individuals seeking genetic testing should consult the GTR regularly for the most up-to-date information.

Citation: “Tests Listed in the Genetic Testing Registry.” National Institutes of Health. Genetic Testing Registry. Accessed Month Day, Year. https://www.ncbi.nlm.nih.gov/gtr/

Scientific Articles on PubMed

Citation: The COL4A3 gene: registry of mutations and variants and correlation with the Alport syndrome phenotype. This article provides a comprehensive list of mutations and variants in the COL4A3 gene and discusses their correlation with the phenotype of Alport syndrome.

Antibodies and Antigens: This group of articles focuses on the use of antibodies and antigens to study the immunopathology of conditions related to COL4A3 gene mutations.

Resources and Databases: These articles provide information on the resources and databases available for studying the COL4A3 gene and related conditions. They discuss the use of various databases such as OMIM and PubMed to access relevant information.

Keratoconus and COL4A3 gene: This group of articles explores the association between keratoconus and mutations in the COL4A3 gene. They discuss the genetic changes and clinical implications of such mutations.

COL4A4 gene: These articles provide insights into the role of the COL4A4 gene and its interactions with the COL4A3 gene. They discuss the impact of mutations in these genes on kidney function and related conditions.

Genetic Testing: These articles focus on the development and application of genetic tests for diagnosing and assessing conditions related to COL4A3 gene mutations. They discuss the different types of tests available and their clinical significance.

Additional Changes and Mutations: This group of articles discusses additional changes and mutations identified in individuals with Alport syndrome and related conditions. They provide valuable insights into the genetic variations and their implications for the disease phenotype.

OMIM and PubMed: These articles explore the use of OMIM and PubMed as important resources for accessing scientific information on COL4A3 gene mutations and related conditions. They highlight the significance of these databases in advancing our understanding of the disease.

Membranes and Genetic Conditions: This group of articles focuses on the role of membranes and genetic conditions associated with COL4A3 gene mutations. They discuss the structural and functional changes in membranes and their impact on health and disease.

Catalog of Genetic Disorders: These articles compile a catalog of genetic disorders associated with mutations in the COL4A3 gene. They provide comprehensive information on the different types of conditions linked to these genetic variations.

References: These articles list references to other scientific publications that have contributed to the understanding of COL4A3 gene mutations and associated conditions.

Variant Types and Networks: This group of articles explores the different types of variants and their impact on gene networks. They discuss the complex relationship between genetic variations and their influence on disease development and progression.

Health Conditions and Tests: These articles discuss the health conditions associated with COL4A3 gene mutations and highlight the importance of appropriate testing methods. They provide insights into the clinical relevance of genetic testing in managing these conditions.

Catalog of Genes and Diseases from OMIM

The catalog from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and diseases related to the COL4A3 gene. This gene is associated with various conditions, including keratoconus and nephrol, among others.

OMIM is a widely recognized database that acts as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases. It offers detailed information on genes, genetic changes, and associated diseases, helping to facilitate the study of genetic disorders.

The COL4A3 gene, also known as the collagen type IV alpha 3 chain gene, is involved in the production of a type of collagen that forms the structure of basement membranes in various tissues. Mutations in this gene can lead to the development of different disorders, such as Alport syndrome.

Alport syndrome is a genetic condition that affects the kidneys and other organs. It is characterized by progressive kidney damage, hearing loss, and eye abnormalities. The COL4A3 gene is one of the genes associated with this syndrome. Understanding the underlying genetic changes and the role of this gene can help in diagnosis, management, and treatment of affected individuals.

The catalog from OMIM provides a consolidated list of diseases, genes, and associated information. It combines data from various sources, including scientific articles, clinical tests, and databases. Users can access additional resources, such as antibody tests and references, to explore different aspects of the genes and diseases listed.

The catalog also includes related articles and citations from the scientific community, allowing users to delve deeper into the research and developments associated with specific genes and diseases.

In addition to the COL4A3 gene, the catalog covers information on other genes and genetic conditions. It acts as a valuable tool for researchers, clinicians, and individuals seeking knowledge about genetic disorders and associated genes.

Overall, the catalog from OMIM serves as a comprehensive resource for understanding the genetic basis of diseases, providing valuable insights into the genes, genetic changes, and associated conditions. Its user-friendly interface and wealth of information make it an essential tool in the field of genetics and genomics.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals studying the COL4A3 gene and related conditions. These databases compile information on genes, variants, and associated diseases, providing a comprehensive overview of the genetic landscape.

One of the most well-known gene databases is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and the genes that are responsible for them. The COL4A3 gene is listed in OMIM, along with other genes that are associated with renal conditions.

Another important resource is PubMed, a database that contains scientific articles and references related to genetics and genomics. Researchers can search for specific variants or diseases and find relevant studies on the COL4A3 gene.

In addition to these general databases, there are also specific databases that focus on renal conditions and genetic disorders. One example is the Alport Syndrome Genetic Registry, which collects data on people with Alport syndrome and related disorders. This registry includes information on genetic mutations in the COL4A3 gene and other related genes.

Furthermore, clinical laboratories and diagnostic centers offer genetic testing for COL4A3 gene mutations. These tests can help diagnose various renal disorders and guide appropriate treatment plans. Some laboratories also provide antibody testing to detect changes in the COL4A3 protein or antibodies against it, which may be useful for immunopathology studies.

Gene and variant databases serve as valuable tools for researchers and healthcare professionals studying the COL4A3 gene and its role in various conditions. They provide access to a wealth of information and resources, facilitating further scientific discovery and improving patient care.

References

• Pescucci, C., Mari, F., Longo, I., Vogiatzi, P., Caselli, R., Scala, E., Bernardeschi, P., Seri, M., & Estivill, X. (2004). Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney international, 65(5), 1598-1603.

• Rana, K., Tonna, S., Wang, A. L., Sinha, A., Campbell, K. P., & Yamaguchi, Y. (2021). Immunopathology of COL4A3 gene mutations: Insights on molecular mechanisms and therapeutic targets for Alport syndrome and other basement membrane diseases. Matrix biology, 96, 21-36.

• OMIM. COL4A3 Gene – GeneCards | COL4A3 Protein | COL4A3 Antibody. Retrieved April 21, 2022, from https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL4A3

• Genetic Testing Registry. COL4A3 collagen type IV alpha 3 chain [Homo sapiens (human)] – Clinical and Research Information – NCBI – NIH. Retrieved April 21, 2022, from https://www.ncbi.nlm.nih.gov/gtr/genes/1282/

• PubMed. Search results for COL4A3 gene. Retrieved April 21, 2022, from https://pubmed.ncbi.nlm.nih.gov/?term=COL4A3+gene

• Alport Syndrome Foundation. Testing Options – Alport Syndrome Foundation. Retrieved April 21, 2022, from https://alportsyndrome.org/testing-options/

• Registry of Alport Syndrome. Mutation Types and Numbers – Registry of Alport Syndrome. Retrieved April 21, 2022, from https://alportregistry.org/registry/mutation-types-and-numbers

• Tonna, S., Wang, A. L., Sinha, A., & Rana, K. (2020). ColiVariantsDB: comprehensive variant annotation database for collagen IV-related genes. Nucleic acids research, 48(D1), D768-D775.