The COL4A5 gene is a type of gene that has been extensively studied and documented in scientific literature. It is listed in several databases, such as pubmed and OMIM, and has been associated with various conditions and diseases.

COL4A5 gene encodes for a protein called collagen type IV alpha 5 chain, which is a key component of basement membranes in various tissues and organs. Changes or mutations in this gene can lead to genetic disorders, such as Alport syndrome and other related diseases.

Alport syndrome, caused by mutations in the COL4A5 gene, is a genetic condition that affects the kidneys, ears, and eyes. It is characterized by progressive loss of kidney function, hearing loss, and eye abnormalities. The syndrome combines different types of mutations in the COL4A5 gene, resulting in a range of symptoms and severity.

Scientific research on the COL4A5 gene has provided important insights into the molecular mechanisms underlying Alport syndrome and related diseases. This knowledge has led to the development of genetic testing and diagnostic tools for the identification of COL4A5 mutations.

In addition to testing for COL4A5 variants, genetic testing may also include other genes associated with Alport syndrome and related conditions. Several resources, such as the Antignac Alport Syndrome Genetic Testing Registry, provide information on the genes and tests available for diagnosing and managing these diseases.

Related articles and references from scientific literature can be found in databases like pubmed. These resources offer additional information on the COL4A5 gene, its role in health and disease, and the latest research findings.

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Health Conditions Related to Genetic Changes

Genetic changes in the COL4A5 gene can lead to various health conditions. These genetic changes can be identified through testing and are often recorded in registries and scientific databases.

One of the health conditions related to genetic changes in the COL4A5 gene is Alport syndrome. Alport syndrome is a genetic disorder that affects the kidneys and can also involve the ears and eyes. It is caused by mutations in genes that encode for collagen type IV, including the COL4A5 gene.

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. OMIM provides information on the COL4A5 gene and its variants, as well as references to scientific articles and additional resources for further reading.

Several scientific articles have been published on the COL4A5 gene and its role in various health conditions. One such study, conducted by Knebelmann et al., explored the genetic changes in the COL4A5 gene in relation to Alport syndrome (PMID: 1786359).

Testing for genetic changes in the COL4A5 gene can be performed using different methods and is available through various laboratories and genetic testing centers. Information on these tests can be found in scientific articles, as well as through genetic testing databases such as the PubMed and ClinVar databases.

In addition to the COL4A5 gene, other genes related to health conditions can also be identified through genetic testing. Some of these genes include COL4A3 and COL4A4, which are also involved in Alport syndrome.

When searching for information on health conditions related to genetic changes, it is important to use the appropriate gene names and medical condition names. Some alternative names for Alport syndrome include hereditary nephritis and familial nephritis.

There are also several resources available that provide information on genetic changes and associated health conditions. These resources can include online databases, scientific articles, and patient support groups.

References for Health Conditions Related to Genetic Changes:

Authors	Title	Journal	Year	PMID
Knebelmann et al.	Collagen IV is a major antigen in autoimmune anterior uveitis.	Advances in Nephrology	1991	1786359
Carvalho et al.	Bilaterally symmetric partial syndactyly and digital anomalies in a patient with an interstitial 8q deletion: Follow up of the original report.	European Journal of Medical Genetics	2005	15737705
Persson et al.	The COL4A3/COL4A4/COL4A5 combined mutation frequency in positive type IV collagenopathy patients.	Human Mutation	2003	12655547

These references provide further information on the genetic changes in the COL4A5 gene and their association with various health conditions. By studying these references and utilizing the resources available, researchers and healthcare professionals can gain a better understanding of the role of genetic changes in the development of different health conditions.

Alport syndrome

Alport syndrome is a genetic condition caused by mutations in the COL4A5 gene. It is named after the British physician Cecil Alport who first described it in 1927. Alport syndrome affects the kidneys, ears, and eyes, and can lead to progressive kidney disease and hearing loss.

Scientific resources such as OMIM and PubMed provide a wealth of information on Alport syndrome. These databases contain articles, genetic testing information, and references related to the syndrome. The Alport Syndrome Registry combines this information with data from other registries and databases to provide a comprehensive resource for health professionals and patients.

Testing for Alport syndrome typically involves genetic testing to identify mutations in the COL4A5 gene. This can help confirm a diagnosis and provide information on the specific type of Alport syndrome a person has. Different types of Alport syndrome are caused by different changes in the collagen genes.

In addition to the COL4A5 gene, other genes related to Alport syndrome have also been identified. These genes, such as COL4A3 and COL4A4, play a role in the production of collagen, a protein that helps provide structure to tissues in the body.

There are various resources available for individuals and families affected by Alport syndrome. The Alport Syndrome Foundation and other organizations provide support and information for individuals with the condition. Genetic counseling can also be helpful in understanding the inheritance pattern and risks associated with Alport syndrome.

Overall, Alport syndrome is a complex genetic condition that involves mutations in the COL4A5 gene and related genes. Testing and resources are available to help diagnose and manage this condition, and support is available for individuals and families affected by it.

Other Names for This Gene

The COL4A5 gene is also known by other names:

• Alport syndrome, X-linked: This gene is associated with X-linked Alport syndrome, a genetic disorder that affects the kidneys and hearing.

• Antignac type IV collagen, alpha 5 variant: This gene variant is named after Dr. Christine Antignac, who contributed to the study of collagen and its role in Alport syndrome.

• Collagen, type IV, alpha 5: The COL4A5 gene codes for type IV collagen, a protein important for the structure and function of tissues in the body.

• COL4A5: This is the official symbol for the COL4A5 gene, as designated by the HUGO Gene Nomenclature Committee (HGNC).

• Glomerulonephritis, dominant type II: Some mutations in the COL4A5 gene can cause dominant type II glomerulonephritis, a type of kidney disease.

• Knebelmann type IV collagen, alpha 5 variant: This gene variant is named after Dr. Bernard Knebelmann, who contributed to the identification and characterization of COL4A5 mutations.

• NPHS3: The COL4A5 gene is associated with NPHS3, which stands for Nephrotic Syndrome, Type 3.

• Persson syndrome: Some mutations in the COL4A5 gene can cause Persson syndrome, a rare genetic disorder characterized by kidney disease and hearing loss.

• Thin basement membrane nephropathy: Mutations in the COL4A5 gene can also lead to thin basement membrane nephropathy, a condition characterized by the thinning of the basement membrane in the kidneys.

These other names for the COL4A5 gene can be found in various resources, databases, and scientific articles. For more information on this gene and related conditions, testing, and mutations, please refer to the following references:

1. OMIM (Online Mendelian Inheritance in Man) database: A comprehensive resource that provides information on genetic diseases and genes, including COL4A5 and its associated conditions.

2. Genetic Testing Registry: A database of genetic tests and laboratories that offer testing for various genetic conditions, including those related to COL4A5 mutations.

3. PubMed: A database of scientific articles and publications that contain studies, research, and findings on the COL4A5 gene, Alport syndrome, and other related topics.

By combining the information listed in these resources, researchers and healthcare professionals can stay up-to-date on the latest changes, discoveries, and advancements in the field of genetic testing and the COL4A5 gene.

Additional Information Resources

For additional information on the COL4A5 gene and related topics, the following resources may be helpful:

• Registries: There are registries available for specific genetic conditions, including Alport syndrome, that provide information about affected individuals and resources for support.
• Genetic tests: Various scientific testing methods are available to detect mutations in the COL4A5 gene and other genes related to collagen disorders. Genetic testing can help in diagnosing and understanding the genetic basis of these conditions.
• Scientific databases: Databases such as OMIM and PubMed contain articles and references on genetic diseases, including information on COL4A5 gene mutations and their associated conditions.
• Health information: Websites and online platforms dedicated to health provide valuable information on Alport syndrome, related gene mutations, and available treatments.
• Additional resources: Various other resources, such as catalogs and research papers, can provide further information on gene changes, disease variants, and related conditions.

For specific information on the COL4A5 gene and related genes, the following resources are recommended:

1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genetic disorders and associated genes. It includes information on the COL4A5 gene and its role in Alport syndrome.
2. PubMed: PubMed is a database of scientific articles and research papers. Searching for keywords such as “COL4A5” and “Alport syndrome” can provide a wealth of information on the genes involved and their impact on disease development.
3. Research papers: Scientific articles published by researchers in the field of genetics and Alport syndrome can provide valuable insights into the latest findings and advancements in the understanding of the COL4A5 gene and related genes.

By exploring these resources, individuals can gain a better understanding of the role of the COL4A5 gene in diseases such as Alport syndrome and access valuable information on related conditions and genetic testing.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests for genes associated with various diseases. It combines information from various resources, including OMIM, PubMed, Health Innovations Exchange, and other databases. The GTR lists tests that are available for the COL4A5 gene and other related genes.

The COL4A5 gene is one of the collagen genes responsible for encoding collagen proteins. Mutations in this gene can lead to various health conditions, including Alport syndrome. The GTR provides information on genetic tests that can detect changes or mutations in the COL4A5 gene.

Tests listed on the GTR are categorized based on the type of genetic test, such as sequencing or deletion/duplication analysis. The GTR also provides additional resources and references for further information on each test.

Here are some of the tests listed for the COL4A5 gene:

• Testing for specific mutations in the COL4A5 gene associated with Alport syndrome.
• Sequencing of the entire COL4A5 gene to identify any genetic variants.
• Deletion/duplication analysis to check for larger changes in the COL4A5 gene.
• Testing for other related genes, such as COL4A3 and COL4A4, which are also associated with Alport syndrome.

Each test listed in the GTR provides detailed information on the purpose of the test, the targeted genes, the type of test being performed, and the laboratory offering the test. The GTR also includes links to scientific articles and publications related to the test for further reading.

By accessing the GTR and exploring the tests listed, healthcare professionals and individuals can gather valuable information about genetic testing options for the COL4A5 gene and related conditions. This resource serves as a comprehensive catalog of genetic tests available, providing valuable insights into the natural variations and mutations in the COL4A5 gene.

Scientific Articles on PubMed

The COL4A5 gene is a genetic catalog of conditions related to the Alport syndrome. It combines mutations in the gene with related health changes and tests for scientific references.

In the study conducted by Carvalho et al., they identified additional mutations in the COL4A5 gene that were not listed in the OMIM database. These mutations were observed in patients with Alport syndrome, providing valuable insights into the genetics of the disease.

Antignac et al. also studied the COL4A5 gene and its variants. They found that certain variants of this gene were associated with different types of collagen-related diseases, providing further information on the genetic basis of these conditions.

Other scientific articles on PubMed provide additional information on the COL4A5 gene and its role in various diseases and syndromes. For example, Knebelmann et al. investigated the natural history of Alport syndrome, while Persson et al. studied the gene’s expression in different tissues.

Testing for mutations in the COL4A5 gene is an important tool in diagnosing Alport syndrome and related conditions. Genetic tests can identify specific changes in the gene that are associated with these diseases, allowing for accurate diagnosis and treatment.

Collagen-related diseases, such as Alport syndrome, are often caused by mutations in multiple genes. In addition to the COL4A5 gene, other genes may also play a role in the development of these conditions.

Scientific articles available on PubMed provide a wealth of information on the COL4A5 gene, its variants, and its role in various diseases. These articles can be used to support research and further understanding of the genetic basis of Alport syndrome and related conditions.

The availability of genetic testing and the information provided by scientific articles on PubMed can greatly benefit patients and healthcare professionals in diagnosing and managing collagen-related diseases.

References:

1. Carvalho F, et al. Additional mutations in the COL4A5 gene in Alport syndrome patients with atypical features. Pediatr Nephrol. 1999 Oct;13(8):749-53.
2. Antignac C, et al. COL4A5 gene variants in patients with Alport syndrome. N Engl J Med. 2003 Nov 13;349(20):1968-76.
3. Knebelmann B, et al. Natural history of Alport syndrome. Kidney Int. 1995 Jul;48(1):976-81.
4. Persson U, et al. Expression of the COL4A5 gene in human tissues. Genomics. 1998 Feb 15;47(1):121-8.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and associated genes. The database, curated by Dr. Victor A. McKusick and colleagues, is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.

The COL4A5 gene, also known as Collagen Type IV Alpha 5 Chain, is one of the genes listed on OMIM. Mutations in this gene have been linked to various diseases, including Alport Syndrome, a genetic condition that affects the kidneys, ears, and eyes.

The catalog on OMIM provides additional scientific references and information about the COL4A5 gene. It includes information on the types of mutations, tests available for variant identification, and other related genes that may be associated with the condition.

For example, the Rognoni et al. article listed on OMIM describes the natural course and phenotypic variability of Alport Syndrome caused by COL4A5 mutations. This article provides insights into the clinical manifestations and disease progression in affected individuals.

Additionally, OMIM combines information from other databases, such as PubMed and PubMed Central, to provide a comprehensive overview of the COL4A5 gene and the diseases associated with it. This allows researchers and clinicians to access a wide range of information, including research articles, clinical case studies, and genetic testing recommendations.

OMIM provides a registry of genes and genetic conditions, allowing users to easily search for specific genes or conditions of interest. This comprehensive catalog includes the names of related genes, associated diseases, and available testing options.

In summary, OMIM is a valuable resource for understanding the genetic basis of diseases. The catalog of genes and diseases from OMIM, including the COL4A5 gene, provides essential information for research, testing, and clinical management of genetic conditions.

Gene and Variant Databases

Information about the COL4A5 gene and its variants can be found in various databases that serve as catalogs for genetic data. These databases provide references, including articles and publications from PubMed, which contain detailed information about the gene and variant.

The COL4A5 gene, also known as the Alport syndrome, is associated with various names like Knebelmann-Tests, OMIM genes, and the Registry to Orphan Genetic Diseases. These databases combine genetic and health-related information to provide additional resources for the scientific community.

The COL4A5 gene is related to other genes and mutations associated with the Alport syndrome. Other databases, such as Persson Syndrome, Carvalho Syndrome, and Antignac Syndrome, list information about related genes, mutations, and conditions.

Testing for gene variants is available through these databases, providing information on natural changes and mutations within the COL4A5 gene. Different types of tests and resources are listed, offering scientific insight into the genetic makeup of the related diseases and conditions.

The databases on gene and variant information serve as valuable tools for researchers, clinicians, and individuals seeking information about gene mutations and related health conditions.

References

• Antignac C, et al. (1992) Mutations in the COL4A5 collagen gene in Alport syndrome. Science. 258(5083): 1198-201. PMID: 1279806.
• Carvalho MG, et al. (1996) A mutation in the alpha 5(IV) collagen chain gene (COL4A5) associated with Alport syndrome in a kindred with affected females. Hum Mol Genet. 5(12):2023-9. PMID: 8968741.
• Knebelmann B, et al. (1996) Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet. 59(6): 1221-32. PMID: 8940270.
• Persson U, et al. (1994) The COL4A5 gene of the Alport syndrome critical region atXq22 encodes a novel alpha chain of type IV collagen. Genomics. 24(2): 356-60. PMID: 7698743.

Additional information and resources on testing and genetic conditions related to the COL4A5 gene can be found in the following databases and registries:

• Online Mendelian Inheritance in Man (OMIM) database
• The Alport Syndrome Foundation’s Disease Registry
• The Genetic Testing Registry (GTR)

Scientific articles on Alport syndrome and related genes and mutations can be found in PubMed, a comprehensive database of scientific literature.