The EFNB1 gene is listed in various databases and resources for genetic testing and research. It is also known as ephrin-B1, which is a receptor for eph-related proteins. This gene plays a crucial role in the development of various health conditions, including craniofrontonasal syndrome and other genetic diseases.

EFNB1 gene is associated with changes and variants that can lead to deficiencies and abnormalities in cells and tissues. It is cataloged in OMIM (Online Mendelian Inheritance in Man), a comprehensive database of human genes and genetic disorders. This database provides detailed information on the gene, its functions, associated health conditions, and references to scientific articles and publications.

EFNB1 gene testing is used to diagnose and identify genetic disorders and conditions related to its variations. The gene’s involvement in certain syndromes and diseases makes it an important target for further research and clinical investigations. Numerous articles and studies have been published in PubMed, a widely-used platform for accessing scientific literature in the field of medicine and genetics.

For individuals and families affected by EFNB1 gene-related conditions, genetic testing and counseling can provide valuable information and support. Genetic counselors and healthcare professionals use the information available in databases and registries to guide patients and offer appropriate diagnostic and management options.

Overall, the EFNB1 gene is an important player in various genetic diseases and syndromes. Its inclusion in registries, databases, and scientific resources allows for better understanding, testing, and management of health conditions associated with its variations and deficiencies.

Health Conditions Related to Genetic Changes

Genetic changes in the EFNB1 gene can lead to various health conditions. One such condition is craniofrontonasal syndrome, which is characterized by craniofacial abnormalities and abnormal development of the central nervous system. Individuals with this syndrome may also have intellectual disability and skeletal anomalies.

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Testing for genetic changes in the EFNB1 gene can help in the diagnosis of craniofrontonasal syndrome and other related disorders. Genetic testing can detect specific variants or changes in the gene that may be associated with these conditions. This information can be useful in understanding the underlying cause of the health issues and guiding appropriate medical management.

There are several resources available for obtaining genetic information related to EFNB1 gene variants and associated health conditions. PubMed is a scientific database that provides access to articles and references on genetic changes and their role in various diseases. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic conditions and associated genes. The GeneReviews database provides expert-authored information on genetic testing, clinical features, and management guidelines for various genetic conditions.

In addition to EFNB1, there are other genes and proteins involved in the development and functioning of the central nervous system and craniofacial structures. Genetic changes in these genes can also lead to similar health conditions. It is important to consider the contribution of these genes and their interactions with EFNB1 in understanding the complexity of these disorders.

For individuals with a suspected genetic condition related to EFNB1 gene deficiency, genetic testing and counseling are recommended. These tests can be performed by specialized laboratories and can help confirm the diagnosis and provide additional information on the specific genetic changes involved. Genetic counselors can assist individuals and families in understanding the implications of the test results and provide guidance on available support and management options.

Information on specific EFNB1-related diseases, including craniofrontonasal syndrome and receptor deficiency, can be found in the EFNB1 entry of the OMIM database. This entry provides a summary of the clinical features, inheritance patterns, and genetic variants associated with these conditions. The Genetic and Rare Diseases Information Center (GARD) is another resource that provides information on genetic conditions and related support services.

In conclusion, genetic changes in the EFNB1 gene can result in various health conditions, including craniofrontonasal syndrome. Genetic testing and resources such as PubMed, OMIM, and GeneReviews are available to obtain information on these conditions. Genetic counseling and testing can help in the diagnosis and management of individuals with genetic variants in the EFNB1 gene and related diseases.

Craniofrontonasal syndrome

Craniofrontonasal syndrome is a genetic disorder that affects the development of the head, face, and other parts of the body. It primarily affects females, but a small number of affected males have also been reported.

The syndrome is caused by changes (variants) in the EFNB1 gene, which provides instructions for making a protein called ephrin-B1. This protein plays a role in cell signaling and helps guide the development of various tissues and organs during embryonic development.

The EFNB1 gene is part of a family of genes known as the eph-related receptor tyrosine kinase genes. These genes are involved in a wide range of cellular processes, including cell-to-cell communication, cell migration, and tissue development.

Craniofrontonasal syndrome is characterized by a wide spectrum of signs and symptoms, which can vary significantly from person to person. Some common features include:

• Abnormal head shape, including a prominent forehead and a high, narrow skull
• Wide-set eyes that may be crossed or have other abnormalities
• Malformed nose, often with a broad, flat bridge or a cleft
• Abnormalities of the ears, such as malformed or low-set ears
• Hand and foot abnormalities, such as syndactyly (fused fingers or toes) or extra fingers or toes

Diagnosis of craniofrontonasal syndrome is usually based on the presence of characteristic signs and symptoms. Genetic testing can also be used to confirm the diagnosis and identify changes in the EFNB1 gene.

There are currently no specific treatments for craniofrontonasal syndrome. Management of the condition typically involves addressing individual symptoms and can include surgical interventions, physical therapy, and supportive care.

For more information on craniofrontonasal syndrome, the following resources may be helpful:

• OMIM: a catalog of human genes and genetic disorders
• PubMed: a database of scientific articles
• GeneReviews: a comprehensive resource for genetic testing and related information
• Centers for Disease Control and Prevention (CDC): information on various genetic conditions and testing resources
• EuroGentest: a registry of genetic testing laboratories and services

It is important to note that craniofrontonasal syndrome is a rare disorder, and not all resources may have detailed information on this specific condition. However, these resources can provide valuable information on genetic testing, related conditions, and other genetic diseases.

Other Names for This Gene

EFNB1 gene is also known by various other names in different databases, tests, and scientific resources. Some of the other names for this gene include:

• Ephrin B1
• Ephrin-B1
• EFB1
• EFL2
• LERK2
• LERK-2
• ELF-2
• EFL-2
• LERK-1
• LERK1
• EPH-related receptor tyrosine kinase ligand 1
• Ephrin-B2
• EFNB2

These names may be listed in various databases, articles, and references related to the EFNB1 gene. They are used to describe different conditions, syndromes, and diseases that are associated with changes or deficiencies in this gene. Additional information on genetic testing, variant genes, and related conditions can be found on various genetic testing resources, scientific articles, and databases like OMIM and PubMed.

Additional Information Resources

Here are some additional resources for obtaining more information on the EFNB1 gene:

• PubMed: This is a database of scientific articles and research papers. Searching for “EFNB1 gene” on PubMed will provide you with a list of articles related to this gene and its functions.
• Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for the EFNB1 gene. This can help you understand if there are any tests available to detect changes in this gene.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive source of information on human genes and genetic conditions. There you can find a list of genetic disorders and conditions associated with the EFNB1 gene.
• Eph-related receptor protein: This is another gene that is related to the EFNB1 gene. Understanding the relationship between these two genes can help you gain a better understanding of the functions and mechanisms involved.

These resources can provide you with further information on the EFNB1 gene, related conditions, and testing options. It is recommended to consult these resources and references to gather more details about this gene and its significance in various diseases, deficiency syndromes, and craniofrontonasal conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that provides resources for genetic testing. It contains information on various genes, genetic conditions, and tests related to these conditions. The GTR provides central access to a wide range of information, including scientific articles, references, and additional resources.

One of the genes listed in the GTR is the EFNB1 gene, which is associated with craniofrontonasal syndrome. This gene is involved in the development of the craniofacial region and has been linked to various diseases and conditions.

The GTR lists several genetic tests related to the EFNB1 gene. These tests detect changes or variants in the gene that may be associated with craniofrontonasal syndrome or other related conditions. The tests provide important information about the genetic makeup of individuals, helping to identify potential health risks and provide appropriate medical management.

Some of the tests listed in the GTR include:

• Variant analysis of the EFNB1 gene
• Sequencing of the EFNB1 gene
• Genetic testing for craniofrontonasal syndrome
• Analysis of EFNB1 protein levels

The GTR also provides information on the OMIM database, which contains detailed information on various genes and genetic conditions. This information can help researchers and healthcare professionals understand the genetic basis of diseases and develop appropriate treatment strategies.

By using the GTR, healthcare professionals and researchers can access the latest information on genetic tests and related resources. The database is regularly updated with new information from PubMed and other scientific sources, ensuring that users have access to the most recent developments in genetic testing and research.

In summary, the Genetic Testing Registry is a valuable resource for accessing information on genetic tests, genes, and related conditions. It provides comprehensive information on the EFNB1 gene, including tests for detecting genetic changes and conditions associated with this gene. Users can find additional resources, references, and scientific articles related to the EFNB1 gene in the GTR database.

Scientific Articles on PubMed

EFNB1 gene is a receptor for eph-related signaling and changes in this gene are associated with craniofrontonasal syndrome, central deficiency, and other genetic conditions. Genetic testing for EFNB1 gene mutations can provide important information regarding the health of cells and proteins related to the gene.

The OMIM database provides a comprehensive catalog of genetic information for EFNB1 gene and its associated diseases. Additional genes and genetic changes related to craniofrontonasal syndrome can also be found in this database.

PubMed is a valuable resource for scientific articles on EFNB1 gene and its role in various genetic conditions. Many articles on the topic can be found in PubMed, providing further insights into the function and significance of EFNB1 gene.

In addition to PubMed, other databases and resources, such as the registry of genes and genetic conditions, can provide further information on EFNB1 gene and related conditions. These resources can be helpful for researchers and healthcare professionals seeking to understand the genetic basis of craniofrontonasal syndrome and other associated diseases.

Overall, the scientific articles available on PubMed and other resources offer a wealth of information on EFNB1 gene, its role in genetic conditions, and the potential implications for testing and treatment. Researchers and healthcare professionals can leverage these resources to deepen their understanding of EFNB1 gene and its relationship to various diseases.

Catalog of Genes and Diseases from OMIM

The OMIM catalog is a comprehensive resource that provides information on genes and diseases related to genetic health. It lists a wide range of genes and their associated diseases, including the EFNB1 gene and its related syndrome.

The EFNB1 gene is associated with the craniofrontonasal syndrome, a condition characterized by malformations of the skull and face. Changes in this gene can lead to various structural abnormalities, such as craniosynostosis and hypertelorism.

The OMIM catalog provides additional resources for information on genetic testing and research. It includes scientific articles, references, and variant information related to this gene and its associated diseases. These resources can be valuable in understanding the genetic basis of craniofrontonasal syndrome and other related conditions.

Testing for EFNB1 gene variants can be done through genetic testing laboratories and clinics. These tests can help diagnose craniofrontonasal syndrome and identify individuals who may have a genetic deficiency in EFNB1 proteins.

In addition to EFNB1, the OMIM catalog includes information on other genes and their associated diseases. It serves as a registry of genetic conditions and provides access to databases, such as PubMed, where scientific articles on genetic health can be found.

Overall, the OMIM catalog is a valuable resource for anyone interested in genetic health. It provides information on genes, diseases, tests, and other related resources, helping to further our understanding of genetic conditions and improve patient care.

Gene and Variant Databases

When studying the EFNB1 gene and related variants, it is important to consult and utilize gene and variant databases for comprehensive information. These databases provide a wealth of information on gene names, variant names, and other related data for scientists and clinicians.

Some of the notable gene and variant databases include:

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the EFNB1 gene, its associated disorders, and related variants.
• GeneTests – GeneTests is a centralized resource for genetic testing information. It includes a wide range of tests for various genetic conditions, including those related to EFNB1 deficiency.
• PubMed – PubMed is a scientific literature database that contains articles from scientific journals. It can be searched for specific articles related to the EFNB1 gene and its variants.

In addition to these databases, there are also resources for specific diseases and conditions. For example, craniofrontonasal syndrome, which is linked to EFNB1 gene changes, may have its own specific gene and variant databases.

These gene and variant databases play a crucial role in providing up-to-date and accurate information on genetic conditions. They are not only valuable resources for researchers and clinicians but also for individuals seeking information about their own genetic health.

By accessing these databases, scientists and clinicians can stay informed about the latest research, testing methods, and advancements in understanding the EFNB1 gene and related deficiencies.

References

• EFNB1 gene testing: Information on testing for changes in the EFNB1 gene can be found at various resources, including the OMIM database.
• Registry: There is a registry for individuals with conditions related to EFNB1 gene deficiency, known as the Craniofrontonasal Syndrome (CFNS) Registry.
• Additional information on EFNB1 gene: More information on the EFNB1 gene can be found in scientific articles listed in PubMed, as well as in other genetic databases and catalogs.
• Genetic tests: Various genetic tests are available for EFNB1 gene and related conditions, including tests for specific variants and for central receptor changes.
• Related genes: There are other genes in the eph-related family that may be linked to similar health conditions.
• Resources for genetic testing: For additional information on tests and resources for genetic testing, it is recommended to consult with health professionals or genetic counselors.