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The COL18A1 gene encodes for the collagen alpha-1(XVIII) chain, a protein that is involved in the formation of collagen, a major component of connective tissue. Mutations in the COL18A1 gene have been associated with various genetic conditions, including Knobloch syndrome. Knobloch syndrome is characterized by severe eye abnormalities and other structural defects in the central nervous system.

The COL18A1 gene is listed in several genetic databases, such as OMIM, and is often referenced in scientific articles related to collagen and genetic diseases. Additional information and testing resources for the COL18A1 gene can be found in these databases, where names for the gene and related syndromes may vary.

For this condition, genetic testing may be recommended. Genetic testing analyzes the COL18A1 gene for changes or variants that are known to be associated with the development of the condition. These tests can be performed using resources such as the Genetic Testing Registry or by referencing scientific articles and other published references found in databases like PubMed.

Overall, the COL18A1 gene plays an important role in the health and development of connective tissues. Research and analysis of this gene are ongoing, and novel findings related to its functions and associated diseases are constantly being discovered.

Genetic changes in the COL18A1 gene have been associated with various health conditions. These changes can be detected through genetic testing, and additional information can be found in scientific articles and databases.

Knobloch syndrome: Known as COL18A1-related Knobloch syndrome, this condition is caused by changes in the COL18A1 gene. It is a rare genetic disorder that affects the eyes and the development of the connective tissues in the body.

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Sertie-Beçamel-Biedl syndrome: This syndrome is also associated with changes in the COL18A1 gene. It is a genetic disorder characterized by several symptoms, including obesity, vision problems, and intellectual disability, among others.

Other known conditions related to genetic changes in the COL18A1 gene:

  • – Retinal dystrophy
  • – Early-onset degenerative disorder

Genetic testing and analysis can help identify these genetic changes and provide valuable information for understanding these conditions. Tests for the COL18A1 gene variant and other genes associated with these conditions are available.

Scientific articles, resources like PubMed, and databases like OMIM provide additional information and references on these health conditions related to changes in the COL18A1 gene.

Furthermore, the Registry for Research on Genetic Clustering of Familial and Hereditary Diseases (SERTIE) catalogs and lists information on various genetic conditions, including those related to the COL18A1 gene.

It is important to consult healthcare professionals for proper diagnosis and to access accurate information about these health conditions and genetic changes in the COL18A1 gene.

Knobloch syndrome

Knobloch syndrome is a genetic condition associated with the COL18A1 gene. This syndrome is named after the physician who first described it, Klaus Knobloch. It is a rare disease that affects the development of collagen and can cause various health issues.

The COL18A1 gene provides instructions for making a protein called type XVIII collagen, which is found in many tissues throughout the body. Mutations in this gene can lead to a deficiency or abnormality of type XVIII collagen, which can disrupt normal tissue development and function.

See also  CBFB gene

Knobloch syndrome is characterized by the presence of specific eye and brain abnormalities. These may include a characteristic eye malformation called retinal detachment, which can lead to vision loss or blindness. Individuals with Knobloch syndrome may also have other eye problems such as nearsightedness or cataracts.

In addition to eye abnormalities, some individuals with Knobloch syndrome may also experience developmental delays, intellectual disabilities, or seizures. The severity of symptoms can vary widely among affected individuals.

Diagnosis of Knobloch syndrome is typically based on clinical features and the identification of COL18A1 gene mutations through genetic testing. Additional tests, such as an eye examination or brain imaging, may also be used to confirm the diagnosis.

There is currently no cure for Knobloch syndrome, and treatment focuses on managing the symptoms and preventing complications. This may involve surgical intervention for retinal detachment, vision aids for individuals with visual impairments, and supportive therapies for developmental delays or seizures.

For more information on Knobloch syndrome, resources such as OMIM, Pubmed, or the Genetic and Rare Diseases Information Center (GARD) can provide in-depth analysis and references to scientific articles. These databases contain information on known gene changes and variant types associated with Knobloch syndrome, as well as other related conditions and genes.

It is important for individuals with Knobloch syndrome and their families to work closely with healthcare professionals and genetic counselors to understand the condition, available testing options, and potential treatment strategies. Collaboration with support organizations and participation in research studies or registries can also provide valuable resources and connections for individuals and families affected by this condition.

Other Names for This Gene

The COL18A1 gene is also known by several other names, including:

  • Sertie syndrome
  • Knobloch syndrome
  • Collagen alpha-1(XVIII) chain
  • COL18A1_GRCh38

This gene is associated with various genetic conditions and diseases. It has been extensively studied and mentioned in scientific articles and health resources. Here are some additional names and related conditions:

Gene Name Associated Conditions
COL18A1 Sertie syndrome, Knobloch syndrome

Additional information, tests, and analysis of changes in this gene can be found in databases such as OMIM and PubMed. These resources provide valuable references and scientific research related to the COL18A1 gene.

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic diseases and genes. It includes information on the COL18A1 gene and related conditions.
  2. PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on genes, diseases, and genetic conditions, including research on the COL18A1 gene.

In addition to OMIM and PubMed, there are other resources and databases available for genetic testing and analysis of the COL18A1 gene. These include genetic testing labs, registries, and catalogs that provide information on genetic conditions and variant analysis.

Additional Information Resources

  • Analysis and Articles:
    • PubMed: The PubMed database provides a comprehensive collection of scientific articles related to the COL18A1 gene. It is a valuable resource for in-depth analysis of research findings and discoveries.
    • Sertié et al.: The study by Sertié et al. provides valuable information on the changes, names, and databases related to the COL18A1 gene. It offers insights into the genetic variants and conditions associated with this gene.
  • References and Genes:
    • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for information on genetic diseases and conditions. It provides detailed information on the COL18A1 gene and its known diseases.
    • Knobloch Syndrome Genetic Testing Registry: This registry provides information on genetic tests available for Knobloch Syndrome, a condition often associated with mutations in the COL18A1 gene. It can be a helpful resource for individuals seeking genetic testing for this condition.
  • Other Resources:
    • PubMed: In addition to articles, PubMed also provides additional information and resources related to the COL18A1 gene.
    • Genet Omim: Genet Omim is another database that offers information on genetic conditions and genes. It may provide additional insights into the COL18A1 gene and associated conditions.
    • COL18A1 Condition Catalog: The Condition Catalog for the COL18A1 gene provides a comprehensive list of conditions and diseases associated with this gene. It can be a valuable resource for healthcare professionals and individuals seeking information on specific health conditions.
See also  Vohwinkel syndrome

Table 1: Testing Resources for COL18A1
Test Name Associated Condition
COL18A1 Genetic Testing Knobloch Syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a health information resource that provides a curated list of genetic tests and their associated conditions. It is part of the National Institute of Health (NIH) and is designed to help individuals and healthcare providers make informed decisions about genetic testing.

Within the GTR, there are various tests related to the COL18A1 gene, which is involved in collagen formation. These tests can detect changes or variants in the COL18A1 gene that are associated with specific conditions.

The following tests are listed in the GTR:

  • COL18A1-related Knobloch Syndrome: This test analyzes changes in the COL18A1 gene to diagnose Knobloch syndrome, an inherited condition characterized by vision problems and abnormalities in the development of the brain and skull.
  • COL18A1-related SERTIE Syndrome: This test detects variants in the COL18A1 gene to diagnose SERTIE syndrome, a rare genetic disorder that affects the development of the eyes, bones, and other tissues.
  • Other COL18A1-associated conditions: This includes additional tests for conditions related to the COL18A1 gene that are currently listed in the GTR. These may include other syndromes or diseases where the COL18A1 gene plays a role.

These tests listed in the GTR provide valuable information for healthcare professionals and individuals who are seeking genetic testing for conditions associated with the COL18A1 gene. They can help identify potential genetic risks or provide a diagnosis for individuals with specific symptoms or family history.

References and scientific articles related to these tests and conditions can be found in the GTR and other genetic databases, such as OMIM and PubMed. These resources offer further information on the genetic basis, clinical presentation, and management of these conditions.

Please note that the GTR is regularly updated, and new tests or changes to existing tests may occur. It is recommended to consult the GTR and healthcare professionals for the most up-to-date and accurate information.

Scientific Articles on PubMed

PubMed is a well-known database that provides access to a large collection of scientific articles related to various health conditions and their genetic components. It is a valuable resource for researchers and healthcare professionals looking for up-to-date information on the latest discoveries and studies in the field of genetics.

When it comes to the COL18A1 gene, PubMed contains numerous articles and references related to this particular gene and its role in various conditions. COL18A1 is a gene that encodes for collagen, a protein that is essential for the strength and integrity of the body’s connective tissues.

One of the main conditions associated with mutations in the COL18A1 gene is Knobloch syndrome. PubMed provides information on tests and analysis conducted on individuals with this condition, as well as novel variants and changes in the gene that have been discovered through genetic testing.

Through PubMed, researchers and healthcare professionals can access additional resources and databases, such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic diseases and their associated genes. OMIM includes a catalog of diseases and genes, including COL18A1, and provides references to scientific articles and research studies related to these conditions.

Other databases and resources listed on PubMed include the Genetic Testing Registry, which provides information on available genetic tests for various conditions, and SERTIE, a database that focuses on rare genetic variants. These resources can be valuable for researchers and healthcare professionals interested in conducting genetic analysis and testing.

In conclusion, PubMed is a vital platform for accessing scientific articles and information related to genes like COL18A1 and their association with various health conditions. It provides a wealth of knowledge and references that can aid in the understanding and management of genetic diseases.

See also  Christianson syndrome

Catalog of Genes and Diseases from OMIM

In the context of the COL18A1 gene, there are various databases and resources available to gather information on related diseases and genetic testing.

One important resource is OMIM, the Online Mendelian Inheritance in Man database. This database provides a comprehensive catalog of genes and diseases, including information on the COL18A1 gene.

OMIM includes information on specific genetic conditions, testing resources, and scientific articles. It lists the names of related diseases and conditions, as well as any known changes or variants in the COL18A1 gene associated with these conditions.

For further analysis, OMIM provides additional resources such as the Pubmed database, where scientific articles related to the gene and condition can be found. OMIM also lists testing resources, such as genetic testing laboratories and registries, where specific tests for the gene can be conducted.

The COL18A1 gene is known to be associated with various diseases, including Knobloch syndrome and Sertie knobloch type, a novel collagen-related condition. OMIM provides detailed information on these diseases, including their clinical features, inheritance patterns, and any available management or treatment options.

For more information on the COL18A1 gene and related diseases, OMIM can serve as a valuable resource. It provides a comprehensive catalog of genes and diseases, with references to scientific articles and testing resources.

Gene and Variant Databases

Gene and variant databases are registries of genetic information related to specific genes, such as COL18A1. These databases catalog various genetic changes or variants known to be associated with specific conditions or diseases. They are valuable resources for genetic analysis, information, testing, and research.

For the COL18A1 gene, several databases compile information on known variants and their associations with different conditions. These databases include:

  • Genetests: Genetests provides information on genetic tests for various conditions, including those related to COL18A1. It lists the testing labs, available tests, and related articles.
  • PubMed: PubMed provides access to scientific articles, research papers, and references related to the COL18A1 gene and its variants. It contains additional information on the genetic changes associated with specific conditions.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on human genes and genetic conditions. It includes detailed descriptions of genes, variants, and associated disorders.
  • Sertie: Sertie is a genetic database that focuses on collagen-related genes, including COL18A1. It provides information on variants, their functional impact, and associated syndromes.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in genetic information. They help in understanding the genetic basis of diseases and conditions, facilitating diagnosis, and guiding treatment decisions.

Database Description
Genetests Provides information on genetic tests, labs, and articles
PubMed Access to scientific articles and references
OMIM Comprehensive database on human genes and genetic conditions
Sertie Focuses on collagen-related genes and associated syndromes

By utilizing these databases, researchers and healthcare professionals can stay updated with the latest research and discoveries related to COL18A1 and its variants. This knowledge contributes to advancements in the field of genetics, leading to improved health outcomes for individuals affected by genetic conditions.

References

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