The EIF2AK4 gene, also known as eIF2alpha kinase 4, is a gene that has been found to be associated with various diseases, including pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension. This gene is responsible for encoding a protein that is involved in regulating cellular responses to stress.
Research articles and scientific references have provided extensive information on the EIF2AK4 gene and its role in different health conditions. It is listed in various databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These resources provide additional information, such as genetic variants, testing options, and related diseases.
Testing for changes in the EIF2AK4 gene can be done to identify individuals who may be at risk for developing certain diseases, including PVOD and pulmonary arterial hypertension. This genetic testing can be done using different methods, and the results can provide valuable information for diagnosis and treatment.
This article aims to provide a catalog of information on the EIF2AK4 gene, including its function, association with diseases, testing options, and other related resources. It is important to note that further research is still needed to fully understand the implications of this gene and its variants in the development and progression of different diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the EIF2AK4 gene have been associated with various health conditions. Some of the names associated with this gene include eIF2 alpha kinase 4 and PEK.
One health condition related to genetic changes in the EIF2AK4 gene is called pulmonary veno-occlusive disease (PVOD). PVOD is a rare disease characterized by the blockage of the small veins in the lungs, leading to increased blood pressure in the pulmonary arteries. This condition can result in pulmonary hypertension.
Testing for genetic changes in the EIF2AK4 gene can help diagnose individuals with PVOD. Genetic testing can identify specific changes or variants in the gene that are associated with the disease. These tests can be performed by specialized laboratories and can provide valuable information for healthcare professionals.
Scientific resources such as PubMed and OMIM provide scientific articles and additional references related to the EIF2AK4 gene and its genetic variant. These databases offer a wealth of information on the specific changes in the gene and their implications for health conditions.
In addition, the Genetics Home Reference provides resources and information on various diseases related to genetic changes, including PVOD. The database offers detailed descriptions of the conditions, information on genetic testing, and references to scientific articles.
The Online Mendelian Inheritance in Man (OMIM) catalog also lists information on genes associated with PVOD and other related conditions. OMIM provides a comprehensive database of genetic disorders and their associated genes, including information on gene variants, clinical features, and inheritance patterns.
Healthcare professionals and individuals seeking information on genetic changes in the EIF2AK4 gene and related health conditions can utilize these resources to access up-to-date and scientific information. Genetic testing combined with clinical evaluations can aid in accurately diagnosing and managing individuals with PVOD and other related conditions.
Pulmonary veno-occlusive disease
Pulmonary veno-occlusive disease (PVOD) is a rare condition, characterized by the blockage or occlusion of small veins in the lungs. It is often classified as a variant of pulmonary arterial hypertension (PAH) due to its similar clinical presentation and pathophysiology.
The EIF2AK4 gene, also known as eIF2α kinase 4, has been identified as the genetic cause of PVOD. Variants in this gene have been found in individuals with PVOD and have been shown to be associated with the development of the disease.
Testing for the EIF2AK4 gene variant is available and can be used for diagnostic purposes. Genetic testing can help confirm a diagnosis of PVOD and can also provide information about the risk of developing the disease for other family members.
Scientific articles and references related to PVOD and the EIF2AK4 gene can be found in databases such as OMIM and PubMed. These resources provide additional information on the disease and the genetic changes associated with it.
In addition to genetic testing, there are other tests and resources available for the diagnosis and management of PVOD. The Pulmonary Hypertension Association provides a registry for individuals with PVOD, which can help connect patients with healthcare professionals and resources.
The Genes and Diseases database, listed in the resources section, catalogues genes associated with various diseases, including PVOD. This database provides an overview of the genes and their role in the development of the disease.
Pulmonary arterial hypertension
Pulmonary arterial hypertension (PAH) is a type of high blood pressure that affects the arteries in the lungs. It is a rare disease characterized by increased pressure in the pulmonary arteries, which are responsible for carrying oxygen-rich blood from the heart to the lungs.
PAH can be caused by a variety of factors, including genetic mutations. One gene that has been associated with PAH is the EIF2AK4 gene. This gene is involved in the regulation of vessel tone and remodeling, and mutations in this gene can lead to the development of PAH.
Genetic testing can be used to identify mutations in the EIF2AK4 gene. This testing can help confirm a diagnosis of PAH and determine the most appropriate treatment options for an individual patient.
In addition to the EIF2AK4 gene, there are many other genes that have been associated with PAH. These genes are listed in various databases, such as OMIM and the Genetic Testing Registry. Additional information about these genes and their associated variants can be found in scientific articles and resources listed on these databases.
Testing for mutations in these genes can be performed to identify individuals at risk for developing PAH and to provide a more accurate prognosis. Genetic testing can also help identify family members who may be at risk for developing the disease.
There are also other conditions, such as veno-occlusive disease (PVOD), that can cause similar symptoms to PAH. Genetic testing can help differentiate between these conditions and determine the most appropriate treatment options.
For more information on pulmonary arterial hypertension and related genetic diseases, additional references can be found in scientific articles listed on PubMed and in the Genetic Testing Registry. These resources provide valuable information on the genetic changes associated with PAH and other related conditions.
Other Names for This Gene
- EIF2AK4 gene
- eIF2alpha kinase, regulated by PKR-like endoplasmic reticulum kinase, in Veno-occlusive Disease, Arterial Pulmonary hypertension, and Hepatic Veno-occlusive Disease 5, Autosomal Recessive; Eif2a-protein kinase RNA-activated, PVOD2; Eif2alpha kinase, related to PKR, mutation 4 (lung adenocarcinoma); GCN2
- Previously listed under a number of provisional names (GCN2, HRI2, PEK2, and PKR-like ER kinase 2), the gene encoding the kinase domain of an eIF2alpha kinase renamed EIF2AK4 is now called EIF2AK4 to promote ortholog identification; see MIM 603330
In addition to the conditions mentioned in the provided resources, mutations in the EIF2AK4 gene have been linked to other diseases such as pulmonary veno-occlusive disease (PVOD). Testing for genetic changes in this gene may be recommended in cases of suspected PVOD or related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides further information on the EIF2AK4 gene and associated diseases. Scientific articles and references in databases such as PubMed also offer additional resources for studying this gene and the diseases it is related to.
Additional Information Resources
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Articles and scientific papers:
- Articles related to the EIF2AK4 gene can be found on PubMed, a database of scientific literature. PubMed provides a comprehensive collection of articles on various health conditions and diseases.
- The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genetic diseases and genes. It includes articles, genetic testing information, and other relevant resources.
- The Pulmonary Veno-Occlusive Disease (PVOD) Registry provides articles, tests, and information related to pulmonary hypertension and related conditions.
- Epub ahead of print articles can also be found on PubMed, providing early access to scientific papers.
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Genetic testing and databases:
- The Genetic Testing Registry (GTR) provides information on genetic testing for various conditions, including pulmonary hypertension and veno-occlusive diseases.
- OMIM also provides comprehensive information on genetic testing for different genes and related diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides a catalog of tests for genetic changes associated with pulmonary veno-occlusive disease. This registry lists tests for the EIF2AK4 gene, also called the eIF2alpha gene, which is associated with this disease as well as other conditions.
In addition to the EIF2AK4 gene, the registry includes tests for other genes that have been linked to pulmonary arterial hypertension and related diseases. These genetic tests can help identify specific variants and provide information on the health implications of these changes.
The registry also contains references to scientific articles, databases, and other resources related to genetic testing. This information can be used to further explore the genetic basis of pulmonary veno-occlusive disease and other conditions.
Tests listed in the registry can help healthcare professionals diagnose individuals with pulmonary veno-occlusive disease and provide them with appropriate care. The registry ensures that accurate and up-to-date information is available to healthcare providers, researchers, and individuals interested in genetic testing for pulmonary veno-occlusive disease.
For more information on tests listed in the Genetic Testing Registry, please refer to the resources and references provided on this webpage.
Scientific Articles on PubMed
The EIF2AK4 gene, also known as the eIF2 alpha kinase 4 gene, plays a crucial role in a condition called pulmonary veno-occlusive disease (PVOD), a form of pulmonary arterial hypertension. This gene is involved in the regulation of protein synthesis and is responsible for maintaining the integrity of the endothelial cells lining the blood vessels in the lungs.
Scientific articles related to the EIF2AK4 gene can be found on PubMed, a database of scientific literature. PubMed provides access to a wide range of articles from various scientific journals and other resources. Researchers and health professionals can use PubMed to find important information and references on the EIF2AK4 gene and its role in pulmonary veno-occlusive disease.
Some of the articles listed on PubMed include studies on the genetic changes associated with PVOD, the identification of other genes involved in the disease, and testing and diagnostic methods for PVOD. These articles provide valuable scientific information on the disease and can help in understanding its underlying mechanisms and potential treatments.
Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides more detailed information on the EIF2AK4 gene and its associated diseases. OMIM is a comprehensive resource that catalogs genetic conditions and the genes responsible for them. It includes information on the clinical manifestations, inheritance patterns, and genetic testing options for various diseases.
Overall, the scientific articles available on PubMed and the resources provided by OMIM are important tools for researchers and healthcare providers interested in understanding and studying the EIF2AK4 gene and its role in pulmonary veno-occlusive disease and other related conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic diseases and the genes associated with them. OMIM is a database that catalogs information on genes and genetic conditions, compiling data from scientific articles, databases, and other resources.
One of the genes listed in the OMIM catalog is the EIF2AK4 gene. This gene plays a role in pulmonary arterial diseases, including pulmonary veno-occlusive disease (PVOD). PVOD is a rare disease characterized by changes in the small blood vessels in the lungs, leading to high blood pressure in the pulmonary arteries.
The OMIM catalog provides names, descriptions, and references for genes and diseases, including the EIF2AK4 gene and PVOD. It also provides information on related conditions and genetic testing options for this gene variant.
Additional information and resources related to the EIF2AK4 gene and pulmonary arterial diseases can be found in the OMIM catalog. The catalog includes links to PubMed articles, scientific databases, and other health resources for further reading and research.
In summary, the OMIM catalog is a valuable resource for scientists, researchers, and healthcare professionals to access information on genes, diseases, and related conditions. It serves as a comprehensive registry of genetic information and provides references, testing options, and additional resources for further exploration of genes and diseases like the EIF2AK4 gene and pulmonary arterial diseases.
Gene and Variant Databases
In the field of genetics, various databases have been established to store and provide information on genes and their variants. These databases are valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and related conditions.
OMIM (Online Mendelian Inheritance in Man) is one such database that catalogues human genes and genetic disorders. It provides comprehensive information on gene-disease relationships, including descriptions, clinical features, inheritance patterns, and references to scientific articles.
GeneTests is another resource that focuses on genetic testing and the availability of tests for specific diseases. It provides a collection of genetic tests offered by various laboratories, along with detailed information on the genes associated with these tests and the diseases they can detect.
PHGKB (Public Health Genomics Knowledge Base) is a database that compiles information on genetic variants and their implications for public health. It serves as a central hub for accessing resources related to genetic testing, population health, and personalized medicine.
dbSNP (Single Nucleotide Polymorphism Database) is a database that specifically focuses on genetic variations, particularly single nucleotide polymorphisms (SNPs). It contains information on DNA sequence variations, including their frequency in different populations and potential associations with diseases.
ClinVar is a database that collects and stores information on the relationships between genetic variations and human health. It serves as a resource for clinicians and researchers to access information on the clinical significance of genetic variants and their relevance to disease.
In addition to these major databases, there are other resources available for specific genes and diseases. For example, the EIF2AK4 gene, also known as eIF2alpha kinase, is associated with arterial and pulmonary vascular diseases such as pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH). To explore information on this gene and its variants, one can refer to specific databases like OMIM, GeneTests, or PubMed.
These databases provide a wealth of information on genes and genetic variants, helping researchers and healthcare professionals to understand the underlying genetic basis of various diseases and conditions. They are crucial resources for genetic testing, disease diagnosis, and treatment decisions.
By utilizing these databases, one can stay up-to-date with the latest scientific discoveries and access valuable resources for further research and understanding of genetic diseases.
References
Scientific articles and other references related to the EIF2AK4 gene and pulmonary veno-occlusive disease (PVOD) can be found in the following databases and resources:
- OMIM (Online Mendelian Inheritance in Man): Provides information on genes, genetic diseases, and variants.
- PubMed: A database of scientific articles in the field of health and medicine.
- Genetic Testing Registry: Provides information on genetic tests for this gene and related conditions.
- ClinVar: Catalog of genetic variants and their associations with diseases.
- Epub ahead of print articles: Additional scientific articles published online before appearing in print.
These resources are valuable for further reading and obtaining more information on the EIF2AK4 gene, PVOD, and other pulmonary arterial hypertension (PAH)-related conditions. They also provide names and details of other databases and scientific articles that may be useful for research and testing.