The ENG gene, also known as endoglin, encodes a protein that is involved in the regulation of blood vessel formation and maintenance. Mutations in the ENG gene have been associated with various hereditary diseases, such as hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension.
HHT is a complex disorder characterized by abnormal blood vessel formation and recurrent nosebleeds. Pulmonary arterial hypertension, on the other hand, is a condition in which the blood pressure in the pulmonary arteries is higher than normal, leading to shortness of breath and fatigue.
The ENG gene is listed in various genetic databases and resources, such as PubMed and the Genetic Testing Registry. These resources provide information on the gene, related diseases, and genetic changes associated with the ENG gene. In addition, scientific articles and references are available for further information on the gene and its role in health and disease.
Genetic testing for mutations in the ENG gene can be performed to confirm a diagnosis of hereditary hemorrhagic telangiectasia or pulmonary arterial hypertension. This testing can help identify individuals at risk for these conditions and guide treatment decisions. Other tests, such as imaging tests and blood tests, may also be used to evaluate the severity of the disease and monitor its progression.
In conclusion, the ENG gene plays a crucial role in the development and maintenance of blood vessels. Mutations in this gene have been associated with hereditary diseases, including hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. Genetic testing and additional tests can help diagnose these conditions and guide treatment decisions. Resources such as PubMed and genetic databases provide valuable information on the ENG gene and its related diseases.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions, some of which are complex and can have severe consequences on an individual’s health. One such condition is pulmonary hypertension, a disease characterized by high blood pressure in the arteries of the lungs. The ENG gene is one of the genes associated with hereditary pulmonary hypertension.
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The ENG gene, also known as the endoglin gene, codes for a protein that plays a crucial role in the development of blood vessels. Mutations in this gene can lead to hereditary hemorrhagic telangiectasia, a disorder characterized by abnormal blood vessel formation.
To determine if a person has genetic changes in the ENG gene, genetic testing can be done. These tests can identify specific variants in the gene that are associated with health conditions. Additional information about the ENG gene and related diseases can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry.
For individuals diagnosed with hereditary pulmonary hypertension or hereditary hemorrhagic telangiectasia, there are resources available for support and further information. Support groups, online forums, and patient registries can provide a community for individuals with these conditions to connect and share experiences.
In summary, genetic changes in the ENG gene can lead to health conditions such as hereditary pulmonary hypertension and hereditary hemorrhagic telangiectasia. Genetic testing and resources are available to aid in the diagnosis, management, and support of individuals with these conditions.
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia, also known as HHT, is a genetic disorder characterized by abnormal blood vessels that can lead to frequent bleeding. The condition is caused by mutations in genes related to the ENG gene, which encodes a protein involved in the development of blood vessels.
Testing for HHT can involve genetic testing to identify changes in the ENG gene. Resources for genetic testing and information on this gene and related conditions are available from various scientific databases, such as OMIM and PubMed.
The main symptoms of HHT include recurrent nosebleeds, multiple telangiectasias (small, abnormal blood vessels) on the skin and mucous membranes, and arteriovenous malformations (AVMs) in various organs, especially the lungs, liver, and brain.
Hypertension can be a common complication of HHT due to the presence of AVMs. Pulmonary hypertension, a specific form of hypertension affecting the arteries of the lungs, is a significant concern for patients with HHT.
The genetic testing for HHT can help diagnose the condition and provide information about the specific variant of the genetic changes in the ENG gene. This information can be useful in managing the patient’s health and conducting appropriate screenings for other related conditions.
The ENG gene is just one of several genes associated with hereditary hemorrhagic telangiectasia. Other genes, such as ACVRL1 and SMAD4, are also involved in the development of this condition. Testing for changes in these genes may be necessary for some HHT patients.
The HHT gene variant database and HHT gene variant registry are resources that provide additional information on the various gene changes associated with hereditary hemorrhagic telangiectasia.
Scientific articles and references related to hereditary hemorrhagic telangiectasia, including clinical guidelines and research papers, are abundantly available on databases such as PubMed and OMIM.
- OMIM – Resources for genetic testing and information on ENG and related genes: https://www.omim.org/
- PubMed – Scientific articles and references on hereditary hemorrhagic telangiectasia: https://pubmed.ncbi.nlm.nih.gov/
- HHT Gene Variant Database: https://arup.utah.edu/database/hht/variants.cgi?action=view
- HHT Gene Variant Registry: https://arup.utah.edu/database/hht/mutations.cgi?hhtdb=variant
| Gene Name | Protein |
|---|---|
| ENG | Endoglin |
| ACVRL1 | Activin A receptor type II-like 1 |
| SMAD4 | Mothers against decapentaplegic homolog 4 |
Note: The list of genes provided here is not exhaustive. There may be additional genes involved in hereditary hemorrhagic telangiectasia.
Pulmonary arterial hypertension
Pulmonary arterial hypertension (PAH) is a complex condition characterized by high blood pressure in the arteries of the lungs. This condition can be caused by various genetic factors, including mutations in specific genes. Understanding the genetic basis of PAH can help in the diagnosis, treatment, and management of this disease.
Several genes have been identified as being associated with pulmonary arterial hypertension. These genes are listed in different scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Some of the genes related to PAH include ENG (endoglin), ACVRL1 (activin receptor-like kinase 1), and BMPR2 (bone morphogenetic protein receptor 2).
Genetic testing can be performed to identify mutations in these genes and provide valuable information for the diagnosis of PAH. Additionally, testing for hereditary hemorrhagic telangiectasia (HHT) genes may also be relevant, as there is an overlap between HHT and PAH.
There are several resources available for obtaining more information about the genetic basis of pulmonary arterial hypertension. These resources include scientific articles, genetic databases, and online registries. These sources provide information about specific genes, variant names, associated diseases, and additional references for further exploration of the subject.
Understanding the genetic changes and mutations involved in pulmonary arterial hypertension can help healthcare professionals in making accurate diagnoses and providing appropriate treatment options. Genetic testing can also be beneficial for individuals with a family history of PAH or related conditions, as it can provide insights into their risk and potential preventive measures.
In conclusion, the genes listed in scientific articles and genetic databases play a crucial role in understanding the genetic basis of pulmonary arterial hypertension. Genetic testing and research in this field provide valuable information for diagnosis, treatment, and management of PAH, as well as identifying individuals at risk for developing this condition.
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Additional Information Resources
This section provides additional resources for further education and research on the ENG gene and related conditions.
- Genetic Testing: Genetic tests for hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH) can be performed to identify mutations in the ENG gene.
- HHT Registries: Registries and databases exist to collect and analyze data on individuals with HHT, including information on their genetic variants and associated conditions.
- References and Scientific Articles: Scientific articles and publications related to the ENG gene and HHT can provide valuable information on the genetic basis and clinical features of these conditions.
- OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the ENG gene, as well as other genes associated with HHT and related conditions.
- Health Databases: Health databases, such as PubMed, contain a wealth of information on the ENG gene, HHT, and pulmonary arterial hypertension, including information on genetics, diagnosis, and treatment options.
- Genes and Protein Catalogs: Catalogs and databases listing genes and proteins related to HHT and pulmonary arterial hypertension can help researchers and clinicians understand the complex genetic and molecular mechanisms involved in these conditions.
- Educational Resources: There are various educational resources available, including books, websites, and online publications, that provide in-depth information on the ENG gene, HHT, and other related genetic disorders.
These additional resources can be used to further explore the ENG gene, its variants, and their role in hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. They can also aid in genetic testing and diagnosis, as well as the development of new treatments and therapies for these conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information on genetic tests, including the names of the tests, the conditions and genes they are related to, and additional scientific and health-related references. It serves as a catalog of available tests for hereditary diseases and genetic changes associated with various conditions.
The GTR database is a valuable tool for researchers, clinicians, and patients seeking information on genetic testing. It includes tests for a wide range of diseases and conditions, including hypertension, pulmonary arterial hypertension, hereditary hemochromatosis, hereditary hemorrhagic telangiectasia, and many others.
Genes related to hypertension and pulmonary arterial hypertension are extensively covered in the GTR. The database lists tests for various genes associated with these conditions, including the ENG gene, which is related to hereditary hemorrhagic telangiectasia. The GTR provides information on the specific variants and changes in these genes that are tested, along with references to scientific articles and other resources for further reading.
The GTR compiles information from a variety of sources, including OMIM, PubMed, and other genetic testing databases. It provides a structured format for presenting information on genetic tests, making it easier for users to search and access the information they need.
Users can search the GTR for specific tests, genes, conditions, or keywords. The database provides detailed information on each test, including the laboratory or company offering the test, the method used for testing, and any limitations or considerations that should be taken into account.
In addition to listing individual tests, the GTR also provides resources for finding laboratories or clinics that offer genetic testing. Users can search for testing facilities based on their location or the specific test they are interested in.
Overall, the Genetic Testing Registry is a valuable resource for anyone interested in genetic testing. It provides a comprehensive catalog of available tests, along with additional resources for further research and information.
References:
Scientific Articles on PubMed
PubMed is a database of scientific articles that provides a wealth of information on various topics. In the context of the ENG gene, there are numerous articles available that discuss different aspects related to hereditary hemorrhagic telangiectasia (HHT).
HHT is a rare genetic disorder that causes abnormal blood vessel formation and can lead to various complications, including telangiectasia (small, dilated blood vessels on the skin or mucous membranes) and arteriovenous malformations (AVMs). This condition can result in nosebleeds, gastrointestinal bleeding, and other symptoms.
PubMed contains articles that cover a wide range of topics related to HHT, including genetic testing, diagnosis, and management of the disease. These articles provide valuable insights into the latest research and advancements in the field. They include information on the different genes and proteins involved in HHT, such as the ENG gene, as well as other genetic changes associated with the condition.
Through PubMed, researchers, healthcare providers, and individuals interested in HHT can access a catalog of scientific articles that delve into the complexity of this condition. Additionally, the database provides references to other related diseases and conditions, such as hereditary pulmonary arterial hypertension.
By utilizing PubMed, individuals can stay up-to-date with the latest scientific discoveries and evidence-based practices in the field of HHT. The database serves as a valuable resource for healthcare professionals, researchers, and patients alike, offering a comprehensive collection of scientific articles related to genetic testing, diagnosis, and treatment options for HHT.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive registry for pulmonary hypertension (PH) and other hereditary conditions. It provides information on various genetic changes, associated diseases, and available testing resources.
This catalog lists genes and their corresponding proteins that are linked to arterial hypertension. It includes both the gene names and the names of the associated diseases. For example, one gene listed in this catalog is ENG, which is associated with hereditary hemorrhagic telangiectasia.
For each gene, the catalog provides detailed information on the genetic changes and protein variants that have been identified. It also includes scientific articles, references, and related information from PubMed and other scientific databases.
In addition to gene-specific information, the catalog also provides a list of tests available for testing related to pulmonary hypertension and other hereditary conditions. These tests can help identify genetic changes and variants that may be contributing to the development of these diseases. The catalog includes information on the availability of these tests and any additional resources that may be useful for testing purposes.
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals who are interested in understanding the genetic basis of pulmonary hypertension and other hereditary conditions. It provides a comprehensive overview of the genes and genetic changes associated with these diseases and offers access to a wealth of scientific information and testing resources.
References:
Gene and Variant Databases
Scientific research in genetics has led to the identification of numerous genes and variants associated with various health conditions. To organize and centralize this information, several gene and variant databases have been established.
One important database is PubMed, a comprehensive resource that provides access to a vast collection of scientific articles related to genetics and other medical disciplines. It allows researchers to search for specific genes and variants, as well as find articles discussing changes in the genetic code and their relation to health conditions.
The Online Mendelian Inheritance in Man (OMIM) is another valuable database that catalogs information about genes and genetic conditions. OMIM provides detailed descriptions of genes, proteins, and conditions associated with changes in these genes. It also lists additional resources and references for further study.
For specific diseases and conditions, there are specialized databases available. For example, there are databases for hypertension and telangiectasia, such as the Genetic Testing Registry (GTR) and the Pulmonary Hypertension Database. These databases provide information on genes and variants associated with these conditions, as well as tests available for genetic testing.
In addition to these databases, there are other resources like gene and variant registries, which aim to collect and share data about specific genes and variants. These registries often provide information about ongoing research, clinical trials, and available testing options.
Overall, gene and variant databases are valuable tools for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions. They provide a centralized source of information, references, and testing options, helping to advance our knowledge of genetics and improve health outcomes for individuals affected by genetic conditions.
References
For additional information about the ENG gene and related conditions, please refer to the following scientific articles and databases:
- Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders. The ENG gene, hereditary hemorrhagic telangiectasia, and other related conditions are listed in the OMIM database (www.omim.org).
- PubMed – a database of scientific articles in the field of medicine and life sciences. Use the search term “ENG gene” or specific conditions such as “hereditary hemorrhagic telangiectasia” or “pulmonary arterial hypertension” to find relevant articles (pubmed.ncbi.nlm.nih.gov).
- GeneTests – a comprehensive resource providing information on genetic testing, diseases, and genes. The ENG gene and its associated diseases are covered in the GeneTests database (www.genetests.org).
- The Human Gene Mutation Database (HGMD) – a database containing information on germline mutations associated with human inherited disease. The HGMD includes data on variants and changes in the ENG gene (www.hgmd.cf.ac.uk).
These resources can provide you with in-depth information about the ENG gene and related conditions, as well as access to testing options and research articles.