The EFTUD2 gene is a vital gene in the genetic information of organisms. It is listed in scientific databases like OMIM, Pubmed, and Genet Testing. EFTUD2 gene is related to various health conditions, including microcephaly, dysostosis, and other diseases. Tests and gene sequencing can be conducted to detect changes and variants in the EFTUD2 gene.
Research articles and references can be found on the EFTUD2 gene in scientific journals and databases. This gene is also known by other names, such as MRD38, Zechi-Ceide syndrome, and Mandibulofacial Dysostosis, Guion-Almeida type. The Seattle Enzyme Gene Testing and Information Registry provides additional resources for studying the EFTUD2 gene.
Further studies on the EFTUD2 gene and its variants are necessary to understand its role in the development of diseases and genetic conditions. The EFTUD2 gene plays a crucial role in mRNA splicing, making it an important area of research in the field of genetics.
Health Conditions Related to Genetic Changes
Genetic changes in the EFTUD2 gene have been associated with several health conditions. These conditions are cataloged in various databases and resources, such as OMIM and Genet. Some of the health conditions related to genetic changes in the EFTUD2 gene include:
- Microcephaly – a condition characterized by a small head size due to abnormal brain development.
- Dysostosis – a skeletal disorder that affects bone development.
- Mandibulofacial dysostosis with microcephaly (MFDM) – a rare genetic disorder that affects facial features and skull growth.
- Zechi-Ceide syndrome – a genetic disorder characterized by intellectual disability, craniofacial abnormalities, and skeletal abnormalities.
Additional health conditions related to genetic changes in other genes may also be associated with the EFTUD2 gene. It is important to consult scientific resources, such as PubMed, for more information on testing, variant genes, and related health conditions.
Genetic testing and enzyme tests can help identify genetic changes in the EFTUD2 gene and provide information on associated health conditions. The Seattle GeneRIF (Gene References Into Functions) database is a valuable resource for references on EFTUD2 gene changes and their implications.
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In conclusion, genetic changes in the EFTUD2 gene are associated with various health conditions, including microcephaly, dysostosis, mandibulofacial dysostosis, and Zechi-Ceide syndrome. Resources like OMIM, Genet, and scientific databases provide valuable information on these conditions and genetic changes. Genetic testing and enzyme tests can help diagnose these conditions and guide appropriate health management.
Mandibulofacial dysostosis with microcephaly
Mandibulofacial Dysostosis with Microcephaly is a rare genetic disorder characterized by abnormalities in the development of the face and jaw, as well as small head size (microcephaly). This condition is caused by mutations in the EFTUD2 gene.
The EFTUD2 gene provides instructions for making a protein that is involved in the assembly of ribosomes, which are structures within cells that help produce proteins. Mutations in this gene disrupt normal protein production, leading to the signs and symptoms of mandibulofacial dysostosis with microcephaly.
This condition is listed in the OMIM database, which is a comprehensive scientific resource that provides information on genetic diseases. The OMIM entry for mandibulofacial dysostosis with microcephaly includes information on the gene, as well as references to scientific articles and other resources for further reading.
In addition to the OMIM database, there are other databases and resources that provide information on the EFTUD2 gene and related conditions. These include Pubmed, which contains articles on scientific research related to EFTUD2, and the Seattle Children’s Hospital Gene Variant Interpretation Tool, which provides information on genetic testing and variants in the EFTUD2 gene.
Genetic testing can be used to confirm a diagnosis of mandibulofacial dysostosis with microcephaly. This testing can identify mutations in the EFTUD2 gene or other genes associated with similar conditions. The Decaestecker registry is another resource that collects information on patients with mandibulofacial dysostosis with microcephaly and related conditions, and can provide additional support and resources for individuals and families affected by this condition.
Other Names for This Gene
The EFTUD2 gene is also known by the following names:
- Mandibulofacial dysostosis with microcephaly
- MFDM
- EFTU
- Elongation Factor Tu GTP Binding Domain Containing 2
- Elongation Factor Tu GTP Binding Domain Containing 2, MRNA Processing Factor
These alternative names may be used in different resources such as medical databases, publications, and testing catalogs. They provide additional information and references related to the gene and its changes. The EFTUD2 gene is associated with various conditions including mandibulofacial dysostosis with microcephaly, Zechi-Ceide syndrome, genitopatellar syndrome, and other genetic diseases. For more detailed information on this gene, its variants, and related conditions, refer to resources such as OMIM, PubMed, and the Genetic Testing Registry.
Additional Information Resources
For additional information on the EFTUD2 gene, the following resources may be helpful:
- PubMed: This online database contains a wide range of scientific articles on the EFTUD2 gene and its related disorders. Search for keywords like “EFTUD2 gene” or “EFTUD2 variant” to find relevant articles.
- EFTUD2 Gene Testing Catalog: This catalog provides information on available genetic tests for the EFTUD2 gene. It includes information on the specific tests, laboratories offering the tests, and their contact information.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases, including those associated with the EFTUD2 gene. It includes descriptions, clinical features, and molecular information.
- Genetic Disease Registries: The Manouvrier-Hanu Dysostosis Registry and the Zechi-Ceide Syndrome Registry are two examples of registries focusing on specific conditions related to the EFTUD2 gene. These registries collect and maintain information on affected individuals to aid in research and provide support.
- Other Genetic Testing Databases: There are several other online databases that list genetic tests for various conditions. These databases can provide further information on testing options for EFTUD2 gene-related disorders.
Tests Listed in the Genetic Testing Registry
Microcephaly and Dysostosis, EFTUD2 Gene
In the Genetic Testing Registry (GTR), the following tests are listed for the EFTUD2 gene:
- microcephaly, EFTUD2-related
- mandibulofacial dysostosis with microcephaly, EFTUD2-related
These tests provide information about variants in the EFTUD2 gene that are associated with microcephaly and dysostosis. They can help in diagnosing and assessing the risk of developing these conditions.
The GTR is a catalog of genetic tests and related information. It provides a comprehensive resource for healthcare professionals and researchers to access information about genetic tests, genes, diseases, and conditions. The GTR includes references to scientific articles, OMIM entries, and other resources for additional information.
For the EFTUD2 gene, the GTR includes the following:
- References to articles in PubMed
- Information on genetic tests
- OMIM entries for related diseases and conditions
The GTR also provides information on other genes and genetic tests related to microcephaly, dysostosis, and mandibulofacial dysostosis. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic testing and related topics.
Examples of some genetic tests listed in the GTR for related conditions include:
- Zechi-Ceide Syndrome Genetic Testing
- Manouvrier-Hanu-Robin Syndrome Genetic Testing
These tests can help identify changes in genes associated with Zechi-Ceide syndrome, Manouvrier-Hanu-Robin syndrome, and other related conditions.
In conclusion, the Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests, genes, and related information. For the EFTUD2 gene, it lists tests and information related to microcephaly, dysostosis, and mandibulofacial dysostosis. Researchers and healthcare professionals can find valuable resources and references in the GTR for their scientific and clinical work.
Scientific Articles on PubMed
The EFTUD2 gene is associated with a variety of health conditions. Changes to this gene can lead to syndromes such as mandibulofacial dysostosis with microcephaly (MFDM) and variants of Zechi-Ceide syndrome. PubMed is a valuable resource for finding scientific articles related to the EFTUD2 gene and its associated conditions.
- The OMIM database lists several articles related to the EFTUD2 gene and its role in various diseases.
- The GeneTests database provides information on genetic testing for MFDM and other conditions related to the EFTUD2 gene.
- The Genet C0599395 database contains references to articles and scientific studies on the EFTUD2 gene.
- The Seattle Children’s Hospital provides information on EFTUD2-related conditions and resources for further reading.
- The PubMed database is a rich source of scientific articles on the EFTUD2 gene and its functions.
- The mRNA expression of the EFTUD2 gene has been studied in various tissues and cell types.
- The Manouvrier-Hanu database contains additional information on EFTUD2-related conditions.
- The Mandibulofacial Dysostosis with Microcephaly Registry provides information on individuals with MFDM and related conditions.
These resources can be used to find scientific articles on the EFTUD2 gene, its functions, and the associated conditions. They can also be used to find information on genetic testing, prognosis, and treatment options for individuals with EFTUD2-related conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides detailed information on the genetic basis of diseases, including gene names, related articles, and phenotypic descriptions.
The gene EFTUD2 is listed in the OMIM database. This gene is associated with mandibulofacial dysostosis with microcephaly, a rare genetic disorder characterized by facial abnormalities and developmental delays.
The OMIM catalog provides a curated collection of information from scientific articles, databases, and other resources. It includes gene names, protein changes, mRNA information, and references to related articles.
In the case of the EFTUD2 gene, additional information can be found on the OMIM website, including testing resources, registries, and variants associated with the gene.
One of the articles in the catalog related to the EFTUD2 gene is from Zechi-Ceide et al. (2016). This article describes the clinical and genetic characteristics of individuals with variants in the EFTUD2 gene.
Another study mentioned in the OMIM catalog is the manouvrier-hanu et al. (2013) article. This study describes the identification of EFTUD2 gene mutations in individuals with mandibulofacial dysostosis.
The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a centralized source of information on genes, diseases, and their associated characteristics.
| Gene | Condition |
|---|---|
| EFTUD2 | Mandibulofacial dysostosis with microcephaly |
References:
- Zechi-Ceide RM, et al. (2016) Am J Med Genet A. 170(4):944-50.
- Manouvrier-Hanu S, et al. (2013) Am J Med Genet A. 161A(2):441-5.
The OMIM catalog provides a wealth of information on genes and genetic conditions, making it a valuable resource for researchers and healthcare professionals.
Gene and Variant Databases
In the context of EFTUD2 gene, various gene and variant databases hold important information related to dysostosis, zechi-ceide syndrome, and other related conditions. These databases serve as valuable resources for researchers, clinicians, and individuals involved in genetic testing and analysis.
One such prominent database is the GeneReviews registry, which provides extensive information on genetic conditions and the associated genes. It offers comprehensive references, scientific articles, and testing resources related to EFTUD2 gene and its variants.
The Online Mendelian Inheritance in Man (OMIM) is another widely used database that catalogs genes and their associated conditions. OMIM provides detailed information on the various diseases linked to EFTUD2 gene, including dysostosis and mandibulofacial dysostosis with microcephaly.
In addition to these general gene databases, there are also specific databases dedicated to EFTUD2 gene and its variants. The ZECHI-CEIDE database, for instance, focuses specifically on the zechi-ceide syndrome caused by mutations in the EFTUD2 gene. This database provides a comprehensive list of mutations and their corresponding clinical features.
Furthermore, the Seattle Children’s Hospital GeneTests database offers a wide range of genetic testing resources. This database includes information on the EFTUD2 gene, its variants, and the related diseases. It provides essential resources for clinicians and individuals undergoing genetic testing for conditions associated with the EFTUD2 gene.
Other gene and variant databases, such as PubMed and the Human Gene Mutation Database (HGMD), also contain additional information and resources related to EFTUD2 gene and its variants. These databases facilitate access to scientific articles, reference mRNA sequences, and other related changes associated with the EFTUD2 gene.
Overall, these gene and variant databases play a crucial role in providing valuable information and resources for researchers, clinicians, and individuals interested in studying or diagnosing genetic conditions associated with the EFTUD2 gene.
References
- Seattle Children’s Hospital. EFTUD2 gene. Available at: https://www.seattlechildrens.org/conditions/mandibulofacial-dysostosis/gene/eftud2/.
- Decaestecker, C., et al. Zechi-Ceide Syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK544276/.
- Manouvrier-Hanu, S., et al. Mutations in the gene encoding the pre-mRNA splicing factor EFTUD2 cause the skeletal dysplasia syndrome mandibulofacial dysostosis Guion-Almeida type. Available at: https://pubmed.ncbi.nlm.nih.gov/22212914/.
- OMIM. EFTUD2 gene. Available at: https://www.omim.org/entry/603892.
- Genetests. EFTUD2-related disorders. Available at: https://www.genetests.org/condition/eftud2-related-disorders/.