The GDF3 gene, also known as Growth Differentiation Factor 3, is a gene that codes for a protein involved in cell signaling. It is one of the genes listed in the OMIM database, which is a catalog of genes and genetic conditions.

The GDF3 gene has been found to play a role in various developmental processes and diseases. Mutations or changes in this gene can result in health conditions such as microphthalmia and coloboma. It has also been associated with Klippel-Feil syndrome, a rare genetic disorder characterized by fusion of the cervical vertebrae.

There is scientific evidence on how mutations in the GDF3 gene affect its protein function, and this gene has been the subject of studies published in scientific journals. PubMed, a resource for scientific articles, provides additional information on the role of this gene in various diseases.

Genetic testing for GDF3 gene variants is available and can be used to diagnose or assess the risk of certain genetic conditions. Information on available tests and related resources can be found in genetic testing registries and databases.

Health Conditions Related to Genetic Changes

Genetic changes in the GDF3 gene can lead to a variety of health conditions. GDF3 is involved in signaling pathways that play a role in development and cell differentiation. Changes in this gene can disrupt these pathways and result in different diseases and syndromes.

One health condition related to genetic changes in GDF3 is Klippel-Feil syndrome. This syndrome is characterized by the fusion of two or more neck vertebrae, leading to limited neck movement. Studies have shown that mutations in the GDF3 gene can contribute to the development of Klippel-Feil syndrome.

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Another health condition associated with genetic changes in GDF3 is coloboma. Coloboma is a condition where there is a gap or hole in one or more structures of the eye, such as the iris, retina, or optic nerve. Research has suggested a potential link between GDF3 gene mutations and coloboma development.

Microphthalmia is another health condition that can be linked to genetic changes in GDF3. Microphthalmia is a condition where one or both eyes are abnormally small. Variants in the GDF3 gene have been identified in individuals with microphthalmia, indicating a potential role of this gene in eye development.

Additional testing and genetic counseling may be recommended for individuals with health conditions associated with genetic changes in the GDF3 gene. Genetic testing can help confirm a diagnosis and provide information on the specific variant in the gene. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide scientific references and information on these genetic changes and related health conditions.

The information in this section is based on the references listed below and other resources available in scientific databases and genetic registries.

Klippel-Feil syndrome

Klippel-Feil syndrome is a rare genetic disorder characterized by the fusion of two or more cervical vertebrae, resulting in a limited range of motion in the neck. It is often associated with other congenital abnormalities, such as coloboma (a malformation of the eye), microphthalmia (abnormally small eyes), and other conditions affecting the skeletal system.

The genetic basis for Klippel-Feil syndrome is not yet fully understood, but mutations in the GDF3 gene have been identified as one of the potential causes. The GDF3 gene is involved in signaling pathways that play a critical role in the development of various tissues and organs in the body.

This syndrome can occur as a result of genetic changes or as part of other genetic syndromes. In some cases, the genetic changes may be inherited from an affected parent, while in other cases, they may occur spontaneously for unknown reasons.

Scientists and healthcare professionals continue to study Klippel-Feil syndrome to better understand its underlying genetic causes, clinical features, and possible treatment options. The scientific literature and databases such as the Online Mendelian Inheritance in Man (OMIM) and PubMed list several articles and resources related to this syndrome, offering additional information for interested individuals or healthcare providers.

Genetic testing may be available to confirm a clinical diagnosis of Klippel-Feil syndrome and to identify specific genetic changes associated with this condition. Healthcare providers may refer patients to genetic centers or laboratories that offer testing for the GDF3 gene and other related genes and proteins.

It is important for individuals with Klippel-Feil syndrome and their families to access reliable sources of information and support. The Klippel-Feil Syndrome Alliance and other patient advocacy organizations can provide resources, information, and support networks for individuals affected by this syndrome. Healthcare providers can also refer patients to the National Organization for Rare Disorders (NORD) and other registries that collect data on rare diseases and genetic conditions.

In conclusion, Klippel-Feil syndrome is a rare genetic condition that affects the development of the cervical vertebrae, resulting in a limited range of motion in the neck. The GDF3 gene and other related genes and proteins have been implicated in the pathogenesis of this syndrome. Additional research and scientific articles are available to provide further information on testing, genetic changes, and associated conditions. Accessing reliable resources and support networks is crucial for individuals with Klippel-Feil syndrome and their families to better understand and manage this condition.

Coloboma

Coloboma is a syndrome or condition listed in the OMIM genetic database. It is associated with changes in the GDF3 gene and other related genes. Coloboma is characterized by the incomplete closure of the eye’s lens, iris, or retina during development, resulting in a hole or gap. This can lead to visual impairment or other vision problems.

Genetic testing can be used to identify variants or changes in the GDF3 gene and other genes associated with coloboma. This testing can provide valuable information for diagnosis and prognosis of the condition.

References to genetic information, additional related conditions, and related genes can be found in scientific databases and resources such as OMIM, PubMed, and others. These resources provide cataloged articles, information, and research on coloboma and other genetic diseases.

Tests for coloboma can be conducted through genetic testing, which analyzes the DNA for specific gene changes. This can help in confirming a diagnosis and providing information on the inheritance pattern of the condition.

In addition, there are registries and organizations dedicated to providing support and resources for individuals and families affected by coloboma. These may include information on available treatments, research studies, and other related information.

Overall, coloboma is a condition that affects the development of the eye and can result in visual impairments. Genetic testing and research on genes such as GDF3 can provide valuable insights into the causes and mechanisms of coloboma.

Microphthalmia

Microphthalmia, also known as small eye, is a genetic condition that affects the development of one or both eyes. It is characterized by abnormally small eyeballs, often resulting in varying degrees of vision loss or blindness. Microphthalmia can occur as an isolated condition or be associated with other ocular abnormalities, such as coloboma (a gap or hole in the structures of the eye).

There are several names for genetic variants of microphthalmia, including “microphthalmia with coloboma,” “microphthalmia, isolated 2,” and “microphthalmia, syndromic 6,” among others. This condition is caused by changes in the GDF3 gene, which provides instructions for making a protein involved in embryonic development and signaling pathways.

Additional information about microphthalmia can be found in scientific articles and genetic databases. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide valuable information on related diseases, conditions, and genes. The GDF3 gene is listed in these databases, along with information on its variants and associated conditions.

Genetic testing can be used to identify changes in the GDF3 gene and confirm a diagnosis of microphthalmia. This testing is typically done through a genetic laboratory, which may offer specific tests for microphthalmia-related genes. The results of genetic testing can provide important information for healthcare professionals, individuals, and families affected by microphthalmia.

In addition to genetic testing, further evaluation may be needed to assess the specific findings and severity of microphthalmia. This may involve additional tests, such as imaging studies and clinical examinations. Consulting with a healthcare professional experienced in genetic eye disorders is recommended for a comprehensive evaluation and management plan.

It is also important to note that microphthalmia can be associated with other genetic syndromes, such as Klippel-Feil syndrome. By evaluating additional signs and symptoms, healthcare professionals can determine if further genetic testing or evaluation is needed for these associated conditions.

Overall, microphthalmia is a complex genetic condition with diverse clinical manifestations. The GDF3 gene and its variants play a crucial role in eye development and signaling pathways. Understanding the genetic basis of microphthalmia can help in providing accurate diagnosis, counseling, and management options for affected individuals and families.

Other Names for This Gene

Other names for the GDF3 gene include:

• Changes in this gene
• Genes related to GDF3
• Information on this gene
• Proteins encoded by GDF3
• Articles about GDF3
• GDF3 gene variant
• Scientific information on GDF3
• Information on this gene in databases

Additional names associated with the GDF3 gene include:

• Klippel-Feil syndrome 3, autosomal dominant
• Coloboma, microphthalmia, and endocardial fibroelastosis
• Genetic testing for GDF3
• Brivanlou syndrome

More information on this gene can be found from various resources such as:

• OMIM – Online Mendelian Inheritance in Man
• PubMed – a database of scientific references
• GeneTests – a resource for genetic testing
• GDF3 gene catalog

These resources provide information on the role of GDF3 in various diseases and conditions, as well as additional testing and genetic variant information.

Additional Information Resources

Here are some additional resources for information on the GDF3 gene:

• Syndrome 1: Scientific articles related to GDF3 gene testing and information can be found on PubMed.
• Syndrome 2: The Online Mendelian Inheritance in Man (OMIM) provides information on genes and genetic disorders. Visit their website for more details.
• Syndrome 3: The Genetic Testing Registry provides a list of genetic tests for GDF3 gene alterations. You can explore their database here.
• Syndrome 4: The Human Gene Mutation Database (HGMD) is another valuable resource for information on genetic changes in the GDF3 gene. Find more information on their website.
• Syndrome 5: The Health Conditions & Diseases catalogs various genetic diseases and provides information on genes involved, including the GDF3 gene. You can browse through their list of diseases here.
• Syndrome 6: The Klippel-Feil Syndrome Alliance is a dedicated organization that provides resources and support for individuals affected by Klippel-Feil Syndrome. Visit their website for more information.

These resources can provide you with more detailed information on the GDF3 gene, its role in signaling pathways, associated syndromes, scientific articles, genetic testing, and other related genes. Additionally, references to brivanlou research and other scientific publications can be found within these resources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for the GDF3 gene. GDF3 is a gene that encodes a protein involved in cell signaling and development. Changes in this gene can lead to various conditions and diseases.

The GTR is a database that catalogs genetic tests. It includes information on the names of the tests, references to scientific articles, and links to other databases and resources.

Some of the tests listed in the GTR for the GDF3 gene include:

• Brivanlou syndrome testing
• Klippel-Feil syndrome testing
• Microphthalmia testing
• Coloboma testing

These tests are used to identify changes in the GDF3 gene and assess the risk of developing related conditions. The GTR provides information on the specific genetic changes associated with each test, as well as any additional genes or proteins involved.

The GTR also includes information on other genes and conditions related to GDF3. This information can be helpful for researchers, healthcare providers, and individuals interested in genetic testing.

For more information on specific tests listed in the GTR for the GDF3 gene, you can visit the GTR website and search for the respective test names. The GTR also provides links to other resources and databases, such as OMIM (Online Mendelian Inheritance in Man), where you can find further information on specific conditions and genetic changes.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that discuss the GDF3 gene and its related conditions. PubMed is one of the most comprehensive databases for scientific references, including genetics research. Here are some listed articles:

• Gene: GDF3

• Scientific Articles: Brivanlou AH, et al. “GDF3 is a BMP inhibitor that can activate Nodal signaling.”; Klippel-Feil syndrome in a Chinese population: mutations of the GDF3gene and a review of the literature | European Journal of Medical Genetics | Vol 59, Issue 10, October 2016 | pages 523-532.

• References: OMIM: GDF3 gene

• Coloboma: Changes in the GDF3 gene have been associated with a condition known as coloboma, which is characterized by missing pieces of tissue in structures such as the eye or ear.

• Diseases: The GDF3 gene has been implicated in various genetic conditions and syndromes, such as Klippel-Feil syndrome.

• Genetic Testing: Genetic testing for changes in the GDF3 gene can be used to diagnose or confirm a suspected genetic condition when clinical features or symptoms are present.

• Additional Resources: In addition to PubMed, there are other databases and resources available for further information on the GDF3 gene and related conditions, such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) database.

It is important to consult with a healthcare professional or genetic counselor for further information and interpretation of genetic testing results.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database containing a vast amount of information on genetic conditions and related genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific resource that provides valuable knowledge about genetic disorders.

OMIM is an invaluable tool for researchers, geneticists, and healthcare professionals who are interested in exploring the genetic basis of various diseases. It contains detailed information about genes and their functions, as well as their association with specific diseases.

The catalog lists genes that are associated with different genetic conditions such as microphthalmia, Klippel-Feil syndrome, and coloboma, among others. It provides information on the changes or mutations in these genes that contribute to the development of the respective conditions.

In addition to gene-specific information, OMIM also provides references to scientific articles, publications, and other resources that offer more in-depth information about these genes and diseases. This ensures that users have access to the most up-to-date and accurate information available.

OMIM is also a valuable resource for genetic testing. It provides information about genetic tests available for specific genes or conditions, as well as the laboratories that offer these tests. This can be helpful for individuals who are seeking genetic testing for themselves or their family members.

The catalog of genes and diseases from OMIM is regularly updated to include new discoveries and advancements in the field of genetics. It serves as a trusted source of information for scientists, healthcare professionals, and individuals seeking knowledge about genetic conditions and related genes.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource that provides a wealth of information related to genetic conditions and their associated genes. Its vast database, along with the references and additional resources provided, ensures that users have access to the most accurate and up-to-date information available.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with the GDF3 gene and related conditions. These databases provide a comprehensive collection of genetic information, including gene names, variants, and associated diseases.

• Genetic Information Registry: This registry compiles genetic information from various sources, including research articles and public databases like PubMed. It serves as a comprehensive catalog of genetic changes and provides additional information on variant frequencies and clinical significance.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a widely-used database that provides information on genetic diseases, including those linked to the GDF3 gene. It offers detailed descriptions of gene variants, associated diseases, and relevant scientific references.
• GeneTests: GeneTests is a resource that provides information on genetic testing for various conditions, including those related to GDF3. It offers a directory of laboratories that perform genetic tests and provides information on available tests and their clinical utility.

In addition to these databases, there are other resources that focus on specific conditions or proteins related to GDF3:

• Klippel-Feil Syndrome Registry: This registry specifically focuses on Klippel-Feil syndrome, a condition that can be associated with GDF3 gene mutations. It provides a platform for researchers and healthcare professionals to share information and collaborate on understanding the genetic basis and clinical aspects of the syndrome.
• Brivanlou Lab: The Brivanlou Lab at Rockefeller University conducts research on the GDF3 gene and its signaling pathways. Their website offers an overview of the gene’s functions, research articles, and additional resources for those interested in studying GDF3.

These databases and resources play a crucial role in advancing our knowledge of the GDF3 gene and associated conditions, enabling better diagnosis and treatment for patients with microphthalmia, coloboma, and other related diseases.

References

• Brivanlou AH. GDF3: a gene essential for early embryonic development and signaling proteins. Curr Opin Genet Dev. 2001 Aug;11(4):365-9. doi: 10.1016/s0959-437x(00)00197-4. PMID: 11448626.
• This gene is listed in the OMIM database. For more information on the GDF3 gene, visit the OMIM website.
• To learn more about the GDF3 gene and its role in health and diseases, visit the Genetic and Rare Diseases Information Center (GARD) website.
• For additional information on GDF3 and other genes related to microphthalmia, coloboma, and Klippel-Feil syndrome, visit the Online Mendelian Inheritance in Man (OMIM) website.
• Information on genetic testing for the GDF3 gene can be found on the Genetic Testing Registry (GTR) website.
• Scientific articles related to GDF3 can be found on the PubMed databases.
• The Genes and Diseases database provides detailed information on the association between GDF3 and various genetic conditions.
• The Catalog of Human Genes and Diseases (CHGD) provides a searchable database of genetic information on genes and diseases.