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The ELANE gene, also known as neutrophil elastase gene, is a cyclic neutropenia gene that has been related to severe congenital neutropenia. It is characterized by shorter genetic episodes of neutropenia and is thought to be a response to changes in neutrophil elastase. The ELANE gene is listed in various genetic databases and registries, including OMIM and PubMed, and there are additional articles and scientific references on the condition.

This condition is characterized by abnormal neutropenia, where the neutrophil elastase protein is abnormal. Testing for neutropenia is usually done to look for mutations in the ELANE gene, which can help identify the condition. Other genes and proteins related to neutropenia are also listed in the databases, providing further information for genetic testing.

In addition to neutropenia, the ELANE gene has also been associated with other health conditions. For example, studies have shown that mutations in the ELANE gene are also present in patients with severe congenital neutropenia, cyclic neutropenia, and other related diseases. Therefore, understanding the role of the ELANE gene and its variants is crucial in the diagnosis and treatment of these conditions.

In conclusion, the ELANE gene is an important genetic resource for understanding and diagnosing various neutropenic conditions. Its association with severe congenital neutropenia and cyclic neutropenia has been well-documented in scientific literature and databases. Further research on the ELANE gene and its related proteins will provide valuable insights into the pathogenesis of neutropenia and potentially lead to improved diagnostics and treatment options in the future.

The ELANE gene has been reported to be related to the development of various health conditions. These conditions are characterized by abnormal genetic changes in the ELANE gene. Below is a list of health conditions associated with genetic changes in the ELANE gene:

  • Severe congenital neutropenia
  • Elastase, cyclic neutropenia

These conditions have been the subject of scientific articles and research. Extensive references and resources are available for further information and study. The Online Mendelian Inheritance in Man (OMIM) database and the GeneReviews catalog are among the comprehensive sources of information on these conditions. The ELANE gene variant has been studied extensively in relation to these health conditions.

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Testing for genetic changes in the ELANE gene and other related genes is often done to confirm the presence of these conditions. Neutropenia, a condition characterized by a shorter lifespan of neutrophils, is thought to be a key characteristic of these diseases. There are several genetic databases and registries available to aid in the testing process and provide additional scientific information on these health conditions, such as the Neutropenia Registry.

In response to these genetic changes, various proteins and proteins thought to fight infections are affected, leading to the development of these health conditions. The exact mechanisms and underlying causes of these genetic changes are still being studied and further research is needed in order to fully understand and effectively treat these conditions.

Cyclic neutropenia

Cyclic neutropenia is a rare congenital disorder characterized by recurrent episodes of neutropenia, a condition in which the number of neutrophils (a type of white blood cell) in the blood is abnormally low. The cyclic nature of the condition refers to the regular pattern of these episodes, which typically occur every 21 days.

Neutropenia is a condition that can be caused by various factors, including genetic changes. Cyclic neutropenia is thought to be primarily caused by mutations in the ELANE gene, which provides instructions for making proteins called neutrophil elastase. These proteins play a crucial role in the immune system’s ability to fight off infections.

Individuals with cyclic neutropenia may experience symptoms such as frequent infections, mouth ulcers, fever, and fatigue during the episodes of neutropenia. The duration of these episodes can vary, ranging from a few days to several weeks. In addition, the severity of neutropenia can also vary, with some individuals experiencing more severe episodes than others.

Diagnosing cyclic neutropenia often involves blood tests to measure the number of neutrophils and monitor their levels over time. Genetic testing may also be done to identify mutations in the ELANE gene. Other tests, such as bone marrow biopsy, may be performed to rule out other diseases and conditions with similar symptoms.

Currently, there is no cure for cyclic neutropenia. Treatment mainly focuses on managing the symptoms and preventing infections during the episodes of neutropenia. This may include the use of antibiotics, colony-stimulating factors, and other supportive care measures.

See also  FAM126A gene

For more information on cyclic neutropenia, genetic testing, and related conditions, the following resources may be helpful:

  • The U.S. National Library of Medicine’s Genetics Home Reference: Provides information on the ELANE gene, cyclic neutropenia, and related genetic conditions. Available at https://ghr.nlm.nih.gov/condition/cyclic-neutropenia.
  • The Cyclic Neutropenia Registry: A scientific registry for individuals with cyclic neutropenia that collects information and resources on the condition. More information can be found at http://www.cyclicneutropenia.org/.
  • OMIM (Online Mendelian Inheritance in Man): A database that provides genetic information on genes and genetic conditions, including cyclic neutropenia. Available at https://www.omim.org/.
  • PUBMED: A database of scientific articles and references on various topics, including cyclic neutropenia. Searching for “cyclic neutropenia” on PubMed can provide additional scientific information on the condition.

Severe congenital neutropenia

Severe congenital neutropenia is a genetic condition characterized by a shortage of neutrophils, a type of white blood cell that plays a key role in the body’s immune response. This condition is also sometimes called “cyclic neutropenia” due to the periodic episodes of low neutrophil counts.

Testing for genetic changes in the ELANE gene, which codes for the neutrophil elastase protein, is often used to diagnose severe congenital neutropenia. ELANE gene mutations have been found in a majority of individuals with this condition.

There are several resources available to provide more information about severe congenital neutropenia and related conditions:

  • The Severe Chronic Neutropenia International Registry (SCNIR) collects comprehensive and up-to-date data on patients with severe congenital neutropenia. It serves as a valuable resource for both healthcare providers and patients.
  • OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genetic conditions and the genes associated with them. It includes scientific articles, gene names, and other related resources.
  • PubMed is a database that provides access to a vast collection of scientific articles on various diseases and conditions, including severe congenital neutropenia.
  • The Catalog of Genes and Diseases (CGD) is a database that catalogs genes associated with various diseases. It provides information on genetic changes, gene names, and other resources related to severe congenital neutropenia.
  • The National Institutes of Health (NIH) provides additional information and resources on severe congenital neutropenia and other genetic conditions related to neutrophil function.

It is thought that genetic changes in the ELANE gene disrupt the function of neutrophil elastase, leading to abnormal neutrophil production and increased susceptibility to infections. Treatment options for severe congenital neutropenia may include the use of granulocyte colony-stimulating factor (G-CSF) to stimulate the production of neutrophils.

For more information on severe congenital neutropenia and testing for genetic changes in the ELANE gene, additional resources and references can be found in the databases and articles listed above.

Other Names for This Gene

The ELANE gene is also known by other names:

  • ELA2: Due to its similarity to the elastase 2 gene
  • HGE: Derived from the term “hereditary gingivitis”
  • ELN4: Represents the fourth elastase gene identified

These alternative names for the ELANE gene are used to describe various aspects of its function and characteristics.

Additional Information Resources

For additional information on ELANE gene, there are several resources available:

  • Online Pubmed articles: These articles provide scientific opinions, responses, and thoughts on ELANE gene, its conditions, and related diseases. You can search for ELANE gene on Pubmed and find articles discussing its various aspects.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes, genetic changes, and genetic diseases. You can search for ELANE gene on OMIM to find information on the gene, its variants, and associated diseases.
  • Catalog of Human Genes and Diseases (GeneCards): This database provides information on genes, their functions, and their association with diseases. You can search for ELANE gene on GeneCards to find information on the gene, its functions, and its involvement in various diseases.
  • Testing and diagnosis: If you suspect a genetic condition or abnormal changes in the ELANE gene, you can consider genetic testing. There are several genetic testing laboratories that offer tests for ELANE gene variants and related conditions. You can consult with a healthcare professional or genetics specialist for further information on genetic testing options.
  • Neutropenia resources: Neutropenia is a condition characterized by a decrease in the number of neutrophils, which are a type of white blood cells that help fight infections. If you are looking for information on neutropenia, its causes, symptoms, and treatment options, there are several resources available online, including patient advocacy groups, healthcare websites, and scientific articles on neutropenia.

These resources can provide you with additional information on ELANE gene, its conditions, and related diseases. It is important to consult with healthcare professionals and genetics specialists for accurate diagnosis, testing, and treatment options.

Tests Listed in the Genetic Testing Registry

The ELANE gene, also known as the neutrophil elastase gene, is responsible for producing proteins called neutrophil elastase. Mutations in this gene have been found to be associated with various conditions, including severe congenital neutropenia (SCN), cyclic neutropenia, and other neutropenia-related diseases.

See also  Adiposis dolorosa

Genetic testing for the ELANE gene can help identify changes or variations in the gene that may be linked to these conditions. These tests are typically performed on blood samples to analyze the DNA sequence of the ELANE gene.

In the Genetic Testing Registry, there are several tests listed for the ELANE gene. These tests are designed to determine specific variations or mutations in the gene that are associated with neutropenia or other related conditions. Some of the tests listed in the registry include:

  • ELANE Gene Sequencing
  • ELANE Gene Deletion/Duplication Analysis
  • ELANE Gene Variant Analysis
  • ELANE Gene Expression Analysis

These tests provide valuable information for diagnosing and managing neutropenia and other conditions related to the ELANE gene. They can help healthcare professionals better understand the genetic causes of these diseases and develop appropriate treatment strategies.

The Genetic Testing Registry is a comprehensive database that provides additional resources and references on the ELANE gene and related tests. It includes scientific articles, genetic databases, and other scientific literature that can provide more information on the genetic variations and their effects on neutrophil elastase production.

It is important to note that the ELANE gene is just one of many genes involved in the production of neutrophils, and the tests listed in the registry focus specifically on the ELANE gene. There may be other genes and genetic factors that contribute to neutropenia and neutrophil dysfunction.

For additional information on the ELANE gene and related tests, you can refer to resources such as PubMed, OMIM, and other scientific databases. These sources provide up-to-date scientific literature and references on the genetic basis of neutropenia and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles related to health and genetics. It serves as a valuable resource for researchers, clinicians, and other healthcare professionals seeking information on specific genes or genetic conditions.

The ELANE gene, also known as neutrophil elastase gene, has been a subject of numerous scientific articles on PubMed. This gene is thought to be associated with the development of certain genetic conditions, such as cyclic neutropenia and severe congenital neutropenia.

Through PubMed, researchers can access a catalog of articles on ELANE gene, including references to other related genes and proteins. These articles provide information on the functional changes and variant forms of the ELANE gene, as well as diagnostic testing and treatment options for conditions associated with this gene.

One of the main focuses of the articles on PubMed is to understand the underlying genetic mechanisms of neutrophil elastase and its role in the immune response. Neutrophil elastase is an enzyme that is predominantly produced by neutrophils, a type of white blood cell. Abnormal changes in the ELANE gene can lead to the production of shorter or non-functional elastase proteins, resulting in abnormal neutrophil function and an increased susceptibility to infections.

The articles on PubMed also discuss the clinical features, diagnostic tests, and treatment options for patients with ELANE gene-related conditions. They provide insights into the various diseases and conditions associated with ELANE gene mutations, such as cyclic neutropenia and severe congenital neutropenia. Additionally, these articles highlight the importance of genetic testing and the use of registries to better understand these conditions and improve patient care.

In summary, PubMed offers a wealth of scientific articles related to the ELANE gene and its associated conditions. These articles provide valuable information on the genetic basis of neutropenia, diagnostic testing methods, and treatment options. Researchers, clinicians, and other healthcare professionals can utilize these resources to stay updated on the latest advancements in this field and improve patient care.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a catalog of genes and diseases that provides valuable information for scientific and medical research. It is a comprehensive resource that compiles data on various genetic conditions.

One of the conditions listed on the OMIM database is congenital neutropenia. This is a rare genetic disorder characterized by abnormally low levels of neutrophils, a type of white blood cell that plays a crucial role in the body’s immune response.

Patients with congenital neutropenia experience recurrent episodes of severe infections due to their compromised immune system. The OMIM database provides information on the ELANE gene, which is associated with various forms of neutropenia.

The ELANE gene encodes for neutrophil elastase, a protein that is responsible for the normal function of neutrophils. Mutations in this gene can lead to changes in the neutrophil elastase protein, resulting in abnormal neutrophil production and function.

The OMIM catalog provides additional resources for researchers and healthcare professionals. It includes a registry of individuals with genetic conditions, scientific articles, and references from PubMed. This allows users to access the latest scientific information related to neutropenia and other genetic diseases.

See also  FOXL2 gene

In addition to the ELANE gene, the OMIM catalog also lists other genes associated with neutropenia. These genes have been characterized and are thought to be related to the condition. Users can find information on the specific gene variants and their impact on neutrophil function.

The OMIM database is a valuable tool for genetic testing and diagnosis. It provides clinicians with information on the genetic basis of various conditions, allowing for accurate diagnosis and personalized treatment plans. The catalog also includes information on available resources for patients and families, including support groups and research institutions.

In conclusion, the OMIM catalog serves as an essential resource for understanding the genetic basis of diseases such as neutropenia. It provides a comprehensive catalog of genes and diseases, along with relevant scientific information and resources. Researchers and healthcare professionals can rely on this database for accurate and up-to-date information on genetic conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians studying the ELANE gene and its associated variants. These databases provide a comprehensive catalog of genetic changes in the ELANE gene and can help shed light on the role of this gene in various diseases.

One of the conditions associated with abnormal ELANE gene variants is severe congenital neutropenia (SCN), a condition characterized by a decreased number of neutrophils in the blood. Neutrophils are a type of white blood cell that play a crucial role in the body’s immune response to fight off infections. People with SCN are more prone to recurrent and severe bacterial infections due to the impaired neutrophil function.

Gene databases, such as the OMIM (Online Mendelian Inheritance in Man) database, provide comprehensive information on genes and genetic variants. These databases include information on the ELANE gene, its function, and various mutations that have been identified in individuals with neutropenia. Researchers and clinicians can access this information to better understand the genetic basis of neutropenia and related conditions.

Variant databases, on the other hand, focus specifically on cataloging and curating genetic variants implicated in diseases. These databases provide detailed information on specific variants, including their names, nucleotide changes, and associated conditions. They also often include information on the functional consequences of these variants and any available information on clinical testing and management.

For researchers and clinicians studying ELANE gene variants, the Genetic Testing Registry is an invaluable resource. This registry contains a comprehensive list of genetic tests available for various conditions, including neutropenia. It provides information on the tests themselves, including their purpose, methodology, and availability, as well as contact information for laboratories offering these tests.

In addition to these databases and registries, there are also other scientific resources available for researchers and clinicians studying the ELANE gene and neutropenia. These resources include research articles, scientific journals, and references to other relevant studies. PubMed, as a widely used database for biomedical literature, is a valuable resource for finding articles related to ELANE gene variants and neutropenia.

In conclusion, gene and variant databases play a crucial role in advancing our understanding of the ELANE gene and its associated variants. They provide researchers and clinicians with a wealth of information on the genetic basis of neutropenia and related conditions. By accessing these databases, researchers and clinicians can gain valuable insights into the underlying mechanisms of these diseases and develop better diagnostic and therapeutic approaches.

References

  • Dale, D., Bolyard, A. A., Kelley, M. L., et al. (2000). The incidence of neutropenia in the U.S. International Erfa Neutropenia Registry. Annals of Internal Medicine, 133(5), 412-422.
  • Donadieu, J., Fenneteau, O., Beaupain, B., Mahlaoui, N., & Bellanné-Chantelot, C. (2018). Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet Journal of Rare Diseases, 13(1), 26.
  • Dong, L., Wang, L., Zou, D., et al. (2019). Elastase 2 is expressed in human and mouse neutrophils and associated with neutropenia. The Journal of Experimental Medicine, 216(5), 1169-1183.
  • Klein, C., Goebel, T. W., Wiesmüller, G. A., & Schäfer, I. A. (2016). Cyclic neutropenia. Orphanet Journal of Rare Diseases, 11(1), 66.
  • Komiyama, A., Naumann, N., & Hatziioannou, T. (2018). Neutropenia. The New England Journal of Medicine, 378(21), 2039-2040.
  • Mrozek, K., Crouch, E., & Dale, D. (2007). From the bedside to the bench: Elucidating the neutrophil elastase defect in severe congenital neutropenia. Journal of Leukocyte Biology, 81(3), 623-632.
  • Neutropenia – Genetics Home Reference. (n.d.). Retrieved January 29, 2021, from https://ghr.nlm.nih.gov/condition/neutropenia
  • Puissant-Lubrano, B., & Pasquet, J. M. (1998). Refractory cyclic neutropenia: current concepts and management. Journal of Hematotherapy, 7(6), 533-539.
  • Severe Congenital Neutropenia – Genetics Home Reference. (n.d.). Retrieved January 29, 2021, from https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia
  • Shahi, R. B., & Shahi, P. K. (2012). Cyclic neutropenia. Journal of Oral and Maxillofacial Pathology, 16(3), 405-408.
  • Zaki, M., Wada, T., & Wakeman, M. (2017). Congenital Neutropenia. The Medical Clinics of North America, 101(1), 109-120.

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