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The GDF6 gene is a genetic sequence that has been extensively studied and documented in various databases and scientific articles. It is closely related to a number of genetic conditions and plays a crucial role in the development of several health and eye-related diseases.

Coloboma, microphthalmia, and Klippel-Feil syndrome are some of the genetic conditions associated with variations in the GDF6 gene. These conditions are characterized by abnormalities in the eyes, spine, and other regulatory systems of the body. Testing for variants in the GDF6 gene can provide important information for the diagnosis and management of these diseases.

The GDF6 gene codes for proteins that are essential for the normal development and function of various body systems. Mutations in this gene can disrupt the normal regulatory processes and lead to the manifestation of genetic conditions. Therefore, understanding the function and variations in the GDF6 gene is of great significance in the field of medical genetics.

References and additional information about the GDF6 gene can be found in scientific publications, online databases, and resources such as the PubMed, OMIM, and Genetic Testing Registry. These sources provide valuable information on the gene’s function, associated diseases, and available genetic tests. Researchers and healthcare professionals often rely on these resources to gather the latest knowledge on the GDF6 gene and its role in human health.

In conclusion, the GDF6 gene is a crucial player in the development of various genetic conditions, particularly those related to eye and regulatory system abnormalities. Genetic testing and extensive research on this gene have led to significant advancements in our understanding of these diseases. Researchers and healthcare professionals continue to explore the role of the GDF6 gene and its interactions with other genes in order to provide better diagnostic and therapeutic options for patients with related conditions.

Genetic changes in the GDF6 gene have been found to be associated with several health conditions. These conditions can be identified through genetic testing and have specific names that are used in scientific databases and catalogs of diseases.

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One of the health conditions related to changes in the GDF6 gene is coloboma. Coloboma is a syndrome characterized by a gap or hole in one of the structures of the eye, such as the iris, retina, or optic nerve. Genetic tests can be used to identify specific changes in the GDF6 gene that are related to coloboma.

Another health condition related to genetic changes in the GDF6 gene is Klippel-Feil syndrome. Klippel-Feil syndrome is a rare condition characterized by abnormal fusion of the bones in the neck. Genetic testing can help identify specific changes in the GDF6 gene that are associated with Klippel-Feil syndrome.

In addition to coloboma and Klippel-Feil syndrome, there may be other health conditions related to genetic changes in the GDF6 gene that have not been listed here. For more information on specific health conditions and genetic changes in the GDF6 gene, you can refer to scientific databases such as Online Mendelian Inheritance in Man (OMIM) or the Human Gene Mutation Database (HGMD).

It is important to note that genetic testing can provide valuable information about a person’s health and potential risk for certain conditions. However, genetic changes alone may not always lead to the development of a specific health condition. The functioning of other genes and environmental factors can also play a role in determining a person’s health.

For more information on genetic changes in the GDF6 gene and related health conditions, you can refer to additional articles and references available on PubMed and other scientific resources.

Klippel-Feil syndrome

Klippel-Feil syndrome is a rare genetic disorder characterized by the fusion of two or more cervical vertebrae in the spine. It is named after Maurice Klippel and Andre Feil, the French physicians who first described the condition in 1912. Klippel-Feil syndrome can present with a wide range of symptoms and severity, including neck pain, limited neck movement, and abnormalities of the bones in the spine.

Research has shown that mutations in the GDF6 gene are associated with Klippel-Feil syndrome. The GDF6 gene encodes a protein called growth differentiation factor 6, which is involved in the development of bone and other tissues in the body. Mutations in this gene can disrupt normal bone development during embryogenesis, leading to the fusion of cervical vertebrae seen in Klippel-Feil syndrome.

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A PubMed search for “Klippel-Feil syndrome” yields numerous research articles and reviews on the topic. These articles provide detailed information on the clinical presentation, genetic basis, and management of the syndrome. Some articles also discuss the association of Klippel-Feil syndrome with other conditions, such as microphthalmia and coloboma.

When conducting research on Klippel-Feil syndrome, it is important to consult reliable scientific resources and databases. The OMIM database is a valuable resource for finding information on genetic conditions and related genes. The Human Gene Mutation Database (HGMD) is another useful tool for identifying genetic changes associated with Klippel-Feil syndrome. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and their associated genes.

Genetic testing for Klippel-Feil syndrome can help confirm a diagnosis and provide information on the specific genetic variant involved. There are several commercial laboratories that offer genetic tests for this syndrome. Additionally, genetic counseling can be beneficial for individuals and families affected by Klippel-Feil syndrome, as it can provide information on the inheritance pattern and recurrence risk.

In conclusion, Klippel-Feil syndrome is a rare genetic disorder caused by mutations in the GDF6 gene. It is characterized by the fusion of cervical vertebrae in the spine and can present with a range of symptoms and severity. Further research and genetic testing are needed to better understand the underlying causes and find potential treatments for this condition.

Coloboma

Coloboma is a genetic condition that affects the eye. It is characterized by a gap or hole in one or more of the structures of the eye, such as the iris, retina, choroid, or optic nerve. This can cause a range of vision problems, including blurred vision, sensitivity to light, and reduced visual acuity.

Coloboma can occur as an isolated condition, meaning it is not associated with other health problems, or it can be part of a syndrome that affects multiple body systems. It may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific genetic changes involved.

Diagnosis of coloboma is usually made through a comprehensive eye examination, which may include imaging tests such as ultrasound or optical coherence tomography. Genetic testing may also be recommended to identify the specific genetic changes associated with coloboma.

There are several articles available on the scientific literature regarding coloboma. Information about genetic testing and related conditions can be found in the catalog of genetic tests and diseases on the OMIM (Online Mendelian Inheritance in Man) database. Additional information and resources on coloboma can also be found on the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) website.

For further information on the genetic regulatory networks and genes involved in coloboma, you can refer to the relevant articles and references listed in the PubMed database. These articles provide insights into the genetic changes and variant proteins associated with this condition.

The GDF6 gene, which encodes a protein involved in eye development, is one of the genes frequently associated with coloboma. Changes or variants in this gene are likely to contribute to the development of coloboma.

Other genes and regulatory factors are also implicated in coloboma, and their roles in eye development and function are being actively studied. These findings contribute to a better understanding of the genetic basis of coloboma and may lead to improved diagnostic tools and treatments in the future.

Resources
Online Resources Additional Information
OMIM Information on genetic tests and diseases
GARD Genetic and Rare Diseases Information Center
PubMed Scientific articles and references

Microphthalmia

Microphthalmia is a rare genetic disorder characterized by abnormally small eyes. It is often associated with other ocular abnormalities such as coloboma, cataracts, and glaucoma. This condition can occur alone or as part of a syndrome, such as Klippel-Feil syndrome.

Genetic testing is available for microphthalmia and can be useful in identifying the underlying genetic cause of the condition. Several genes have been associated with microphthalmia, including the GDF6 gene. Mutations in this gene have been found in individuals with isolated microphthalmia, as well as in individuals with other related ocular conditions.

For more information on genetic testing, additional resources, and databases, you can visit OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genes and genetic diseases, along with information on gene variants and associated phenotypes.

In addition to OMIM, there are other databases and resources available for further research and scientific articles on microphthalmia. PubMed is a well-known database that provides access to a wide range of scientific literature, including studies on the genetics and molecular mechanisms of microphthalmia.

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It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and information on microphthalmia and related conditions. They can provide guidance on available tests, possible changes in regulatory guidelines, and other likely conditions associated with microphthalmia.

References:

Other Names for This Gene

  • GDF6 gene
  • Growth differentiation factor 6
  • CDMP-2
  • BMP-13
  • Gliadin-Null 3
  • MMP-13
  • PTHRPI
  • DHN3

The GDF6 gene is also known by several other names. Some of these include Growth differentiation factor 6, CDMP-2, BMP-13, Gliadin-Null 3, MMP-13, PTHRPI, and DHN3. These names are used interchangeably to refer to the same gene.

The GDF6 gene is involved in the regulation of various genetic and developmental processes. It has been linked to several conditions and syndromes, including Klippel-Feil syndrome and microphthalmia with coloboma. Changes in this gene are likely to contribute to the development and progression of these conditions.

Additional information about the GDF6 gene can be found in various genetic databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information, including the associated diseases and phenotypic features. PubMed is another valuable resource for finding scientific articles and references related to this gene.

Genetic testing and screening can be conducted to identify changes in the GDF6 gene that may be associated with specific conditions. These tests can help provide insights into the individual’s health and the likelihood of developing certain diseases.

Additional Information Resources

For additional information about the GDF6 gene, you may find the following resources helpful:

  • Genetic Testing Registry: This registry provides information about genetic tests for the GDF6 gene variant and other related genes. You can access the registry at https://www.ncbi.nlm.nih.gov/gtr.
  • OMIM: The OMIM database contains scientific information and references on genetic conditions, including those related to the GDF6 gene. You can visit the OMIM website at https://omim.org.
  • Genes related to Klippel-Feil Syndrome: This resource provides a list of genes associated with Klippel-Feil Syndrome, a condition related to mutations in the GDF6 gene. You can find more information at https://www.ncbi.nlm.nih.gov/gene/.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “GDF6 gene” or specific diseases like microphthalmia and coloboma in PubMed can provide additional scientific information. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.

These resources can provide further information on genetic testing, changes in the GDF6 gene, related diseases and conditions, and scientific articles.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive catalog of tests for a variety of genetic conditions. This includes tests related to the GDF6 gene, as well as other genes associated with health issues. Genetic testing can help identify changes in the GDF6 gene that may be likely to cause conditions such as coloboma and microphthalmia, among others.

This catalog includes information about the available tests, including their names and the genes they target. It also provides references to scientific articles and databases where additional information can be found.

The Genetic Testing Registry is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing. It includes regulatory information, links to PubMed articles, and other relevant resources.

Below is a table listing some of the tests in the Genetic Testing Registry related to the GDF6 gene and its associated conditions:

Test Name Gene Target Associated Conditions
Test 1 GDF6 Coloboma, Microphthalmia
Test 2 GDF6 Microphthalmia
Test 3 GDF6 Coloboma

These tests can help identify variants or changes in the GDF6 gene that may be associated with the development of coloboma and microphthalmia. Testing for these genetic changes can provide valuable information for diagnosing and managing these conditions.

For more information on these tests and other genetic testing resources, it is recommended to consult the Genetic Testing Registry and OMIM (Online Mendelian Inheritance in Man) database.

References:

Scientific Articles on PubMed

The GDF6 gene has been extensively studied in various scientific articles available on PubMed. Studies have explored the genetic basis of various conditions and diseases associated with this gene, such as coloboma, Klippel-Feil syndrome, microphthalmia, and other related genetic variants.

Researchers have cataloged the names and regulatory changes in the GDF6 gene, and these articles provide valuable information on the role of this gene in different conditions. The articles also discuss the testing and diagnostic procedures available for detecting genetic variants in GDF6, as well as the potential implications for patients’ health.

Scientific articles on PubMed contain references to other resources and databases where researchers can find additional information on genetic testing, diseases, and conditions associated with GDF6. These resources include OMIM, the Genetic Testing Registry, and various health databases.

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Moreover, the articles provide detailed information on the proteins encoded by the GDF6 gene, their functions, and any known changes or mutations that may occur. Researchers can use this information to further investigate the role of GDF6 in specific conditions and diseases.

The scientific articles on PubMed offer an extensive catalog of information on the GDF6 gene and its relevance to various diseases and conditions. They serve as a valuable resource for researchers, clinicians, and individuals seeking information on genetic testing and related topics.

  • Coloboma is one of the conditions associated with GDF6.
  • Klippel-Feil syndrome is another genetic variant related to the GDF6 gene.
  • Microphthalmia is a condition that is likely related to changes in the GDF6 gene.
  • The PubMed database provides a wealth of scientific articles on the genetic variants of this gene.
  • Researchers can find additional information on genetic testing, diseases, and conditions associated with GDF6 from resources such as OMIM and the Genetic Testing Registry.
Related Conditions References
Coloboma Reference 1
Klippel-Feil syndrome Reference 2
Microphthalmia Reference 3

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information on genetic conditions and diseases. It contains a registry of genes and their associated diseases, as well as additional information such as variant names, protein names, and references to scientific articles and other resources.

The catalog lists a wide range of diseases, from common health conditions to rare disorders. It includes information on conditions such as microphthalmia, Klippel-Feil syndrome, and coloboma. Each disease entry provides details on the associated genes, proteins, and any known changes or variants in the gene that are likely to cause the disease.

OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and genetic health. It provides access to information on the genetic basis of diseases, including the underlying causes and potential testing options.

In addition to the gene and disease registry, OMIM also offers links to other databases and resources for further exploration. These resources include regulatory databases, PubMed references, and links to related articles and studies.

OMIM’s catalog is continuously updated with new information and advances in genetic research. It plays a crucial role in advancing our understanding of genetic conditions and their impact on health.

For more information on genes and diseases, as well as genetic testing options, visit the OMIM website.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with genetic diseases. These databases store information about genes, variants, and their associated diseases, providing a comprehensive catalog of genetic knowledge.

These databases contain information on gene names, proteins, and related genetic conditions. They are used to identify genetic changes that are likely responsible for certain diseases or conditions. In addition, these databases provide important health information and references to scientific articles and resources.

One well-known gene and variant database is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information on various genetic conditions, including microphthalmia and coloboma syndrome, which are related to the GDF6 gene. OMIM lists the gene’s regulatory information and references to other research articles.

Another important database is the Genetic Testing Registry (GTR). GTR provides information on genetic tests and testing laboratories. The database catalogues the available tests for specific genes and conditions, including GDF6-related diseases. It also provides additional information on the tests, such as their accuracy and clinical validity.

Researchers and healthcare professionals can use these databases to access critical information on genes and variants, helping them better understand the genetic basis of diseases and develop appropriate treatment strategies. These databases play a crucial role in advancing scientific research and improving patient care.

References:

  1. Online Mendelian Inheritance in Man (OMIM) – www.omim.org
  2. Genetic Testing Registry (GTR) – www.ncbi.nlm.nih.gov/gtr/

References

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