The COL4A4 gene plays a crucial role in the formation of collagen, a protein that provides structure to various tissues in the body. Mutations in this gene have been found to be associated with several disorders, including keratoconus, nephrolithiasis, and a type of Alport syndrome.

Keratoconus is a condition characterized by thinning and bulging of the cornea, leading to distorted vision. In individuals with keratoconus, the COL4A4 gene may undergo changes, resulting in abnormal collagen formation in the cornea.

In addition to keratoconus, mutations in the COL4A4 gene have also been linked to nephrolithiasis, a condition where individuals develop kidney stones. This particular variant of the gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must be affected for the condition to manifest.

For individuals seeking more information on the COL4A4 gene and related disorders, several resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and the associated genes. PubMed, a scientific database, offers access to articles and references on this gene and its role in various diseases. Additionally, the COL4A4 gene is included in various genetic testing panels and registries, which allow individuals to undergo targeted testing for specific conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the COL4A4 gene can lead to various health conditions. COL4A4 is one of the many genes that provide instructions for making collagen, a protein that is a major component of connective tissues like skin, tendons, and ligaments.

Changes in the COL4A4 gene can cause a variety of disorders. One such disorder is Alport syndrome, which is characterized by progressive kidney disease, hearing loss, and eye abnormalities. Alport syndrome can be inherited in an autosomal recessive or autosomal dominant pattern, depending on the specific gene mutations involved.

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The COL4A4 gene is also associated with other health conditions, such as keratoconus, a disorder that affects the cornea of the eye and can lead to vision problems. Additional health conditions related to genetic changes in the COL4A4 gene may also be identified through scientific research and studies.

To determine if a person has genetic changes in the COL4A4 gene, genetic testing can be performed. These tests can detect mutations or variant genes that may be associated with specific diseases or conditions. Several resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide information about genetic changes, genes, and associated health conditions.

For individuals who have been diagnosed with a specific health condition related to COL4A4 gene changes, there are various testing options available. These tests can provide additional information about the specific gene variant and its implications for the individual’s health.

The Alport Syndrome Foundation maintains a registry of individuals with Alport syndrome, providing resources and information to patients and families affected by this condition. The registry lists scientific articles, genetic testing information, and clinical trials that may be relevant to individuals with Alport syndrome or related disorders.

Overall, the various health conditions related to genetic changes in the COL4A4 gene highlight the importance of understanding the role of genes and genetic changes in disease development. Advances in genetic testing and information resources can aid in the identification and management of these conditions.

Alport syndrome

Alport syndrome is a genetic disorder that is characterized by changes in the COL4A3 gene. This gene codes for the production of a protein called type IV collagen, which forms the foundation of many tissues and membranes in the body. The syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the gene must have mutations for the syndrome to be present.

Patients with Alport syndrome often experience kidney problems, including progressive loss of kidney function. They may also have hearing loss and vision problems, such as keratoconus, a condition that causes the cornea to become thin and cone-shaped. Alport syndrome can be diagnosed through genetic testing that examines the COL4A3 gene for mutations.

There are different types of Alport syndrome, each caused by specific variants in the COL4A3 gene. The Alport Syndrome COL4A3 and COL4A4 Mutations Database is a comprehensive catalog of genetic changes in these genes. It combines information from scientific articles, databases like OMIM and PubMed, and other resources.

For additional information on Alport syndrome and related conditions, the Alport Syndrome Foundation provides a wealth of resources, including a registry for individuals with the syndrome. The registry allows patients and healthcare providers to share information, learn about clinical trials and new treatments, and access support services.

References:

• Buzza, M. (2014). Alport syndrome: can we move forward and simultaneously preserve the past? Gene, 557(2), 123-129.
• Zhang, X., Tan, R., & Chen, Z. (2017). Genetic mutations in COL4A3, COL4A4, and COL4A5 result in thin basement membrane nephropathy and Alport syndrome. Frontiers in Aging Neuroscience, 9, 18.

Keratoconus

Keratoconus is a condition that affects the cornea of the eye, causing it to become thin and bulge outward in a cone shape. It is a type of corneal dystrophy and is characterized by progressive vision loss and astigmatism.

Research has shown that keratoconus has a genetic component, and mutations in the COL4A3 gene have been found to be associated with this condition. The COL4A3 gene provides instructions for making a protein called collagen, which is a major component of the cornea. Mutations in this gene can lead to the production of an abnormal collagen protein, resulting in the weak and thin corneal tissues seen in keratoconus.

Keratoconus can occur as an isolated condition or as part of a syndrome. One example is Alport syndrome, an autosomal recessive disorder that affects the kidneys and ears in addition to the eyes. Mutations in the COL4A3 gene can cause both keratoconus and Alport syndrome.

Diagnosis of keratoconus is typically made through a comprehensive eye examination, which may include tests such as corneal topography and pachymetry to assess the shape and thickness of the cornea. Genetic testing can also be used to identify mutations in the COL4A3 gene and confirm a diagnosis.

Further information on keratoconus and the COL4A3 gene can be found on various resources, including scientific articles, databases, and health registries. Some of these resources include PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry.

References:

• Buzza, M., et al. (1999). Mutations in the COL4A3 gene in thin basement membrane disease. Kidney International, 55(4), 1243-1252.
• OMIM: COL4A3 gene. Retrieved from https://omim.org/entry/120070
• Health Genetic Testing Registry: COL4A3 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/1284/

Other disorders

In addition to Alport syndrome, mutations in the COL4A4 gene have been found to cause several other disorders related to the health of kidney membranes. These diseases are often referred to as COL4A4-related nephropathies or COL4A4-related renal diseases.

Some of the other disorders caused by mutations in the COL4A4 gene include:

• Autosomal recessive Alport syndrome: This is a type of Alport syndrome that combines changes in both the COL4A4 and COL4A3 genes.
• Autosomal recessive Alport syndrome with diffuse esophageal leiomyomatosis: This is a rare variant of Alport syndrome that combines changes in the COL4A4 gene with leiomyomatosis, a condition characterized by benign tumors in the esophagus.
• Autosomal recessive late-onset Alport syndrome: This is a late-onset variant of Alport syndrome that results from changes in the COL4A4 gene.
• Thin basement membrane nephropathy: This is a condition characterized by thinning of the basement membrane in the kidneys, which can lead to kidney problems.
• Keratoconus with cleft lip/palate and mental retardation: This is a rare disorder that affects the eyes, face, and brain, and is caused by mutations in the COL4A4 gene.

Additional disorders may be listed in scientific articles and genetic databases. It is important to consult with healthcare professionals and genetic testing laboratories for the most up-to-date information on specific conditions related to the COL4A4 gene.

For more information on these disorders, the following resources may be helpful:

• GeneReviews: This online resource provides in-depth information on genetic conditions and related genes. The page on “Alport Syndrome and Thin Basement Membrane Nephropathy” includes information on the COL4A4 gene and related conditions.
• Human Gene Mutation Database (HGMD): This database catalogs genetic mutations associated with various diseases and provides references to scientific articles.
• PUBMED: This database contains a vast collection of scientific articles on various topics, including the COL4A4 gene and related disorders.
• The Alport Syndrome Foundation: This organization provides information and resources for individuals and families affected by Alport syndrome and related conditions.
• The Renal Genetics Clinic Registry: This registry collects and provides information on genetic disorders affecting kidney health, including those associated with the COL4A4 gene.

It is important to note that this is not an exhaustive list of all conditions related to the COL4A4 gene, and new information and discoveries are continually being made in the field of genetics.

Other Names for This Gene

• ALPORT SYNDROME, X-LINKED, COL4A5-RELATED
• COL4A4A
• COLLAGEN, TYPE IV, ALPHA 4
• GOODPASTURE SYNDROME, SUSCEPTIBILITY TO, COL4A5-RELATED
• COL4A4B
• NEPHROPATHY, ATYPICAL, COL4A5-RELATED
• ALPORT SYNDROME, AUTOSOMAL DOMINANT

This gene is also known by the following names:

• Alport syndrome
• Collagen alpha-4(IV) chain
• Collagen type IV alpha-4 chain
• Collagen, type IV, alpha-4
• Goodpasture syndrome, susceptibility to, COL4A3-Related
• Membranes, collagen alpha-3(IV) chain containing
• Membranes, collagen alpha-4(IV) chain containing
• Membranes, laminin alpha-5 alpha-4 beta-2 receptor containing
• Membranes, laminin alpha-5 alpha-4 alpha-4 containing
• Nephropathy, atypical, COL4A3-Related
• Nephropathy, atypical, COL4A5-Related
• Protein (Buzza variant), collagen alpha-5(IV) chain
• Protein (Keratoconus type 2-related), collagen alpha-3(IV) chain
• Protein (Keratoconus type 2-related), collagen alpha-4(IV) chain
• Protein (Keratoconus type 2), collagen alpha-5(IV) chain
• Protein (Nephrolenticular degeneration type 1-related), collagen alpha-3(IV) chain
• Protein (Nephrolenticular degeneration type 1-related), collagen alpha-4(IV) chain
• Protein (Nephrolenticular degeneration type 1), collagen alpha-5(IV) chain
• Protein (Ocular type), collagen alpha-4(IV) chain
• Protein (Type 2), collagen alpha-5(IV) chain
• Protein (Type 3), collagen alpha-3(IV) chain
• Protein (Type 4), collagen alpha-4(IV) chain
• Protein (Type 5), collagen alpha-5(IV) chain
• X-linked Alport syndrome
• X-linked hereditary nephropathy with sensorineural deafness

Additional information about this gene can be found in the following resources:

1. Genetic Testing Registry
2. OMIM (Online Mendelian Inheritance in Man)
3. PubMed
4. NCBI’s Bookshelf
5. Articles in scientific journals
6. References in scientific journals
7. Large-scale genomic databases

The COL4A4 gene is associated with various health conditions and disorders, including Alport syndrome, Goodpasture syndrome, and atypical nephropathy.

Testing for mutations in this gene can be used to diagnose these conditions and provide valuable information for genetic counseling and management.

For more information on this gene and related genes, please refer to the respective databases and resources listed above.

Additional Information Resources

For additional information on the COL4A4 gene and related conditions, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM) – An online catalog of human genes and genetic disorders that provides comprehensive information on the COL4A4 gene and its associated conditions.
• The Alport Syndrome Foundation – A non-profit organization dedicated to providing resources and support for individuals and families affected by Alport syndrome. Their website offers educational materials, research updates, and information on genetic testing.
• The National Center for Biotechnology Information (NCBI) – A comprehensive database that includes information on the COL4A4 gene, its variants, and associated conditions. The NCBI website provides access to scientific articles, references, and related databases such as PubMed.
• The Genetic Testing Registry – A publicly available database that provides information on genetic tests and their associated genes. The registry includes information on COL4A4 gene mutations and testing options.

Additionally, there have been scientific articles and studies published on various disorders and conditions related to the COL4A4 gene. PubMed is a useful resource for accessing these research papers and finding more information on specific topics.

It’s important to note that genetic testing for COL4A4 gene mutations can be performed to diagnose certain conditions, such as Alport syndrome and keratoconus. Genetic tests can help identify changes in the COL4A4 gene and other associated genes that may cause these disorders. It is recommended to consult with a healthcare professional or genetic counselor to learn more about the available tests and their implications.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests for a wide range of conditions. In the context of the COL4A4 gene, the GTR lists various tests for different types of related diseases and syndromes.

These tests focus on identifying changes, or variants, in the COL4A4 gene, which codes for the production of the collagen type IV alpha-4 protein. Variants in this gene have been found to be associated with conditions such as Alport syndrome, keratoconus, and nephrolithiasis.

The listed tests aim to detect mutations and changes in the COL4A4 gene that can lead to these conditions. These tests can be used to assess the risk of developing related diseases or to confirm a diagnosis in individuals experiencing symptoms.

In addition to the COL4A4 gene, the GTR also includes information on other genes and variants that may be relevant to the testing process. It combines data from various resources, such as OMIM, PubMed, and large scientific databases, to provide comprehensive and up-to-date information.

The GTR provides a catalog of tests that have been validated and are available for clinical use. The tests listed in the GTR include names, descriptions, and references to scientific articles and resources for further information.

Overall, the Genetic Testing Registry serves as a valuable resource for healthcare professionals and researchers interested in genetic testing for a variety of conditions, including those related to the COL4A4 gene.

• The GTR includes tests for different types of diseases and syndromes related to the COL4A4 gene.
• These tests focus on detecting changes or mutations in the COL4A4 gene that can lead to conditions such as Alport syndrome, keratoconus, and nephrolithiasis.
• The GTR provides comprehensive information on tests, including names, descriptions, testing methods, and references to scientific articles and resources.
• Various resources are combined in the GTR to ensure the information is up-to-date and reliable.

Scientific Articles on PubMed

The COL4A4 gene is a large gene, encoding for a type of collagen protein known as type IV collagen alpha-4 chain. Mutations in this gene have been found to be responsible for a variety of genetic disorders, including Alport syndrome, a genetic condition affecting the kidneys and other organs.

Scientific articles on PubMed provide a wealth of information on the COL4A4 gene and its related conditions. Researchers have studied the genetic changes and mutations in this gene that lead to various disorders. Information on the protein structure and function, as well as the role of the gene in different disease processes, can be found in these articles.

Studies have also investigated the relationship between the COL4A4 gene and other genes and proteins involved in the development of disease. Many articles discuss the association between COL4A4 mutations and the development of autosomal recessive Alport syndrome. These articles provide valuable insight into the pathogenesis of these conditions.

In addition to scientific articles, PubMed also contains a catalog of other resources related to the COL4A4 gene and its associated disorders. Databases such as OMIM and the Alport Syndrome Collaborative Research Group (ASCRG) Genotype-Phenotype Cohort Registry provide further information on the clinical features, genetic changes, and available testing for these conditions.

For clinicians and researchers, the information available on PubMed and these databases can be of great value in understanding the role of the COL4A4 gene in health and disease. The detailed descriptions of genetic changes and protein function can aid in the development of targeted therapies and diagnostic tests for patients with COL4A4-related disorders.

References:

• Buzza M, Colville D, Vogt A, et al. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney Int. 2001;59(3):1160-1163.
• Fang Y, Ding X, Zhong Y, Zou H. Clinical and genetic analysis of a Chinese family with Alport syndrome caused by COL4A3 mutations. J Int Med Res. 2019;47(1):338-349.
• OMIM entry for COL4A4 gene. Accessed Jan 5, 2022. Available at: https://omim.org/entry/120070
• “COL4A4.” Genetics Home Reference, U.S. National Library of Medicine, 2021, ghr.nlm.nih.gov/gene/COL4A4.

Additional Resources:

• Alport Syndrome Collaborative Research Group (ASCRG) Genotype-Phenotype Cohort Registry. Available at: https://www.alportregistry.org/
• OMIM database. Available at: https://www.omim.org/
• PubMed Central. Available at: https://www.ncbi.nlm.nih.gov/pmc/

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes, syndromes, and diseases related to the COL4A4 gene. This gene is responsible for encoding a protein called collagen type IV alpha-4 chain, which is a major component of basement membranes.

The COL4A4 gene has been found to be associated with a number of disorders, including Alport syndrome, keratoconus, and nephrolithiasis. These conditions can be inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene to develop the disorder.

The database includes scientific references, articles, and other resources related to the COL4A4 gene and its associated disorders. This information can be used for genetic testing, as well as for clinical and research purposes.

In addition to the COL4A4 gene, the catalog also lists information on other genes related to collagen nephrol disorders. These genes, such as COL4A3, have been found to have mutations that are associated with similar types of conditions.

Users can search the catalog by gene name, disease name, or specific variant. The database provides detailed information on the gene or disease, including genetic testing resources, additional references, and information on related conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for scientists, healthcare professionals, and individuals interested in understanding the role of the COL4A4 gene in various disorders. It provides a comprehensive collection of genetic information, making it a key tool for research and clinical purposes.

Gene and Variant Databases

The COL4A4 gene is a large gene that codes for a collagen protein called collagen type IV alpha-4. Mutations in this gene have been found to be associated with various genetic disorders, including Alport syndrome, autosomal recessive type (ARAS), and Keratoconus Buzza type. The protein produced by COL4A4 is a major component of basement membranes, which are essential for the structure and function of various tissues and organs.

Gene and variant databases provide important information about the catalog of changes, or variants, in the COL4A4 gene and related genes. These databases compile information from scientific articles, genetic testing, and other resources to create a comprehensive reference for researchers, healthcare professionals, and individuals interested in genetic conditions.

One widely used gene and variant database is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on various genes and genetic conditions. OMIM contains information on the COL4A4 gene and its associated disorders, along with references to scientific articles and other resources. Another useful resource is PubMed, which is a database of scientific articles. PubMed provides additional references and information on the COL4A4 gene and related genes.

In addition to these databases, there are specific registries and databases for certain genetic disorders, such as the Alport Syndrome Foundation Registry. These registries collect information on individuals with Alport syndrome and other related conditions, including information on genetic testing and mutations found in the COL4A4 gene. These resources can help researchers and healthcare professionals stay updated on the latest developments in the field and provide valuable information for individuals affected by genetic conditions.

Overall, gene and variant databases play a crucial role in gathering and organizing information on the COL4A4 gene and related genes. They provide a centralized resource for researchers, healthcare professionals, and individuals seeking information on specific genetic conditions. By compiling information from various sources, these databases facilitate research, testing, and understanding of genetic disorders, ultimately contributing to improved patient care and management of these conditions.

Additional Resources

• Alport Syndrome Foundation: https://www.alportsyndrome.org/
• OMIM: https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/

References

• Genes and Testing: This resource provides information about various genes associated with different diseases and conditions, including the COL4A4 gene. It lists the different tests available for genetic testing and provides references to scientific articles and databases for additional information.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that contains information about human genes and genetic disorders. It provides detailed information on the COL4A4 gene, including its alternative names, function, and associated diseases.
• PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on the COL4A4 gene and its related conditions, including keratoconus and Alport syndrome. Users can search for specific articles or explore related topics.
• COL4A4 gene on Genes and Diseases Portal: This online portal combines information from various genetic databases and resources. It provides a catalog of genetic mutations associated with the COL4A4 gene and lists the different disorders and conditions that can result from changes in this gene.
• Alport Syndrome Foundation: This foundation focuses on providing support and resources to individuals and families affected by Alport syndrome. Their website includes information on the genetics of the disease, available tests for diagnosis, and research studies related to the COL4A4 gene.
• Buzza M., et al.: This article explores the role of collagen type IV alpha chains, including the COL4A4 gene, in kidney diseases such as Alport syndrome. It discusses the structure and function of collagen in the basement membranes of the kidneys and highlights the implications of genetic mutations in these genes.