The SERPING1 gene is one of the genes listed in the catalog of genetic tests. It is involved in several types of blood-related conditions and is a key gene in the regulation of the body’s immune response. Testing for changes in the SERPING1 gene can provide additional information related to angioedema and other related diseases.

Scientific articles and databases, such as PubMed and OMIM, provide references to genetic changes and variant names associated with SERPING1. These resources are valuable tools for researchers, clinicians, and health professionals involved in genetic testing and counseling.

The SERPING1 gene is part of a clade of genes that are implicated in angioedema reactions. Mutations in this gene can lead to a deficiency in the production or function of the protein C1 esterase inhibitor, resulting in recurrent episodes of swelling in various parts of the body. Diagnostic testing for SERPING1 gene variants is available through genetic testing laboratories and can be useful in confirming a clinical suspicion of hereditary angioedema.

The SERPING1 gene is also listed in the Genetic Testing Registry, which provides information on the availability, purpose, and limitations of genetic tests. This registry helps to ensure the quality and validity of genetic testing for the SERPING1 gene and other genes associated with genetic disorders.

Health Conditions Related to Genetic Changes

Scientific research has identified several health conditions that are related to genetic changes in the SERPING1 gene. These genetic changes can affect the body’s ability to produce a protein called C1 inhibitor, which is involved in regulating inflammation and preventing excessive swelling.

One of the health conditions related to genetic changes in the SERPING1 gene is hereditary angioedema (HAE). HAE is a rare genetic disorder characterized by recurrent episodes of swelling in various parts of the body, including the skin, gastrointestinal tract, and airways. The swelling can be spontaneous or triggered by factors such as stress, trauma, or infection.

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HAE can be caused by different types of genetic changes in the SERPING1 gene, including variants, deletions, and insertions. These genetic changes can lead to reduced or absent production of functional C1 inhibitor protein, resulting in uncontrolled swelling and the characteristic symptoms of HAE.

Additional health conditions related to genetic changes in the SERPING1 gene may also exist, as scientific research continues to uncover new information about this gene’s role in the body. To learn more about specific genetic changes and associated health conditions, it is recommended to consult reputable scientific resources such as OMIM, PubMed, and the Genetic Testing Registry (GTR).

These resources offer comprehensive catalogs of genetic changes, associated diseases, and related scientific articles. They can provide valuable information about the types of genetic changes involved, the clade of diseases they are associated with, and the reactions or health conditions they can lead to.

Genetic testing can be used to identify specific genetic changes in the SERPING1 gene and confirm a diagnosis for individuals suspected of having HAE or other related health conditions. Testing can involve various types of genetic tests, including DNA sequencing, gene deletion or duplication analysis, and protein testing.

References to specific genetic changes and associated health conditions can be found in the scientific literature and databases, including OMIM, PubMed, and the Genetic Testing Registry. By consulting these resources, healthcare professionals and individuals can access the most up-to-date information on the genetic changes and health conditions related to the SERPING1 gene.

To learn more about health conditions related to genetic changes in the SERPING1 gene, it is recommended to consult reputable scientific resources and genetic testing laboratories for additional information and support.

Hereditary angioedema

Hereditary angioedema (HAE) is a genetic condition characterized by recurrent episodes of swelling in various parts of the body, including the skin, airway, and gastrointestinal tract. It is caused by changes in the SERPING1 gene, which encodes a protein called C1 inhibitor.

HAE is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the condition if one of their parents has it. It can be classified into three types: type I, type II, and type III. Types I and II are caused by genetic changes in the SERPING1 gene, while the cause of type III is not yet fully understood.

People with HAE may experience swelling in different parts of the body, including the face, hands, feet, and abdomen. The swelling can be painful and may last for several days. In severe cases, it can lead to difficulty breathing and swallowing, which can be life-threatening.

Diagnosis of HAE often involves a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can measure the levels and function of the C1 inhibitor protein, while genetic testing can identify specific genetic changes in the SERPING1 gene.

Treatment for HAE typically involves managing and preventing symptoms. This may include the use of medications to relieve swelling and prevent attacks, as well as avoiding triggers that may provoke an attack. In severe cases, emergency medical treatment may be necessary.

For additional information on hereditary angioedema, there are several resources available. Scientific articles and references can be found in databases such as PubMed and OMIM. The World Allergy Organization maintains an online registry of hereditary angioedema and related diseases. Health organizations and websites may also provide information and testing resources for genetic conditions.

Understanding the genetic changes involved in hereditary angioedema can help in the development of targeted treatments and management strategies for individuals with this condition.

Other Names for This Gene

• SERPING1
• C1-INH
• C1NH
• DAF
• hereditary angioedema 1
• C1 esterase inhibitor
• hereditary angioneurotic edema
• complement component 1 inhibitor
• C1-inhibiting factor
• plasma protease C1 inhibitor
• angioedema, hereditary, due to C1 inhibitor deficiency type I
• angioedema, hereditary, due to C1 inhibitor deficiency type II
• angioedema, hereditary, due to C1 inhibitor deficiency type III
• angioedema, hereditary, due to C1 inhibitor deficiency type IV

This gene has been associated with several genetic conditions and diseases, including hereditary angioedema. The SERPING1 gene is involved in the production of a protein called C1 esterase inhibitor, which plays a critical role in controlling inflammation and regulating the immune system in the body. Mutations or changes in this gene can lead to a lack of functional C1 esterase inhibitor, resulting in uncontrolled reactions and the development of hereditary angioedema.

Testing for variants in the SERPING1 gene can be performed to diagnose hereditary angioedema and related conditions. Various genetic tests are available, including DNA sequencing and targeted mutation analysis. Additional information on genetic testing and related resources can be found on the websites of the National Center for Biotechnology Information (NCBI), the Online Mendelian Inheritance in Man (OMIM) catalog, and the Genetic Testing Registry (GTR).

Scientific articles and references on the SERPING1 gene and its role in health and disease can also be found in PubMed, a database of scientific publications. These articles provide valuable information on the biology, function, and clinical implications of this gene.

Additional Information Resources

For additional information on the SERPING1 gene and its role in angioedema, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the genetic changes associated with various diseases and conditions. OMIM can be accessed at https://omim.org/.
• PubMed: PubMed is a database of scientific articles and references. It contains a wealth of information on genetic testing, genetic changes, and other related topics. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
• Health Changes Catalog: This database lists genetic changes and their associated health conditions. It provides information on the SERPING1 gene and its involvement in various diseases. The Health Changes Catalog can be accessed at https://www.ncbi.nlm.nih.gov/clinvar/.
• Hereditary Angioedema Registry: This registry collects data on individuals with hereditary angioedema, including information on genetic testing, blood tests, and reactions to various triggers. The registry can be accessed at https://www.haecanada.org/.
• Genetic Testing Registry: This resource provides information on genetic testing for various genes, including SERPING1. It includes details on available tests, laboratories, and testing methodologies. The Genetic Testing Registry can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.
• Other Genetic Databases: There are several other genetic databases that can provide additional information on the SERPING1 gene and its involvement in hereditary angioedema. These include the Human Gene Mutation Database, GeneReviews, and the Human Phenotype Ontology. These databases can be accessed through various resources and institutions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides genetic information about the SERPING1 gene, including the names of tests available for this gene. These tests detect changes in the SERPING1 gene that are involved in hereditary angioedema and other related conditions.

The GTR lists several types of tests for the SERPING1 gene, including genetic testing for changes in the SERPING1 gene, as well as tests for other genes involved in hereditary angioedema and related diseases. These tests can provide important information on the variant of the SERPING1 gene that could be responsible for the development of these conditions.

Genetic testing is a scientific approach to identify changes or variants in genes that may be associated with certain diseases or conditions. It involves analyzing specific regions of the genome to detect any alterations in the genetic sequence.

By testing the SERPING1 gene, healthcare providers can obtain valuable information about an individual’s risk for hereditary angioedema and related conditions. This knowledge can help guide treatment decisions and interventions to minimize the risk of severe reactions and improve overall health outcomes.

The GTR includes a wealth of resources for further information, such as links to PubMed articles, OMIM (Online Mendelian Inheritance in Man) entries, and additional references related to genetic testing for the SERPING1 gene. These resources can provide a comprehensive understanding of the gene’s role in various conditions and the implications of genetic changes.

Overall, the Genetic Testing Registry offers a catalog of tests available for the SERPING1 gene and other related genes. These tests can provide critical genetic information that can aid in the diagnosis, management, and treatment of hereditary angioedema and related conditions, leading to better patient outcomes.

Scientific Articles on PubMed

When researching the SERPING1 gene, it is important to consult the scientific articles available on PubMed. This genetic catalog provides a comprehensive collection of articles related to the SERPING1 gene and its associated resources.

PubMed is a vast database that houses a wide range of scientific articles from various fields of study. By searching for “SERPING1 gene” on PubMed, researchers can find valuable information on the gene’s structure, functions, and role in various health conditions.

These articles include information on different variants of the SERPING1 gene and their effects on hereditary angioedema, a condition characterized by severe swelling attacks. PubMed also provides a registry of genes associated with hereditary angioedema, including the SERPING1 gene.

In addition to information on hereditary angioedema, PubMed articles cover other health conditions involving the SERPING1 gene. These include reactions and diseases involving the body’s complement system, where SERPING1 plays an important role.

The articles listed on PubMed provide insights into the testing and diagnostic methods used for identifying SERPING1 gene variants. Researchers can find detailed information about genetic testing and the specific tests available for detecting different variations of the gene. This information can be valuable in diagnosing and managing various health conditions related to the SERPING1 gene.

Overall, PubMed is an invaluable resource for researchers and healthcare professionals looking to gather scientific information on the SERPING1 gene and its role in various health conditions. The articles available on PubMed provide a wealth of scientific references and additional resources related to the SERPING1 gene and its associated diseases.

By utilizing this genetic catalog and the wealth of scientific articles it offers, researchers can expand their knowledge on the SERPING1 gene, its variants, and the diseases it is involved in.

These articles, along with many others, provide valuable insights into the SERPING1 gene and its impact on various health conditions. By referencing the scientific articles on PubMed, researchers can stay up to date on the latest research and discoveries related to the SERPING1 gene.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that catalogues genes and genetic conditions. It is a valuable resource for researchers and healthcare professionals seeking information on hereditary diseases.

The catalog lists various genetic conditions and the genes that are associated with them. The SERPING1 gene, for example, is listed on OMIM as the gene responsible for hereditary angioedema, a condition characterized by episodes of swelling in various parts of the body. The catalog provides additional information on the genetic changes or variants in the SERPING1 gene that are involved in this condition.

OMIM not only provides information on specific genes and diseases, but also includes references to scientific articles and databases that contain further information. For example, OMIM references articles from PubMed, a database of biomedical literature, which can provide more in-depth information on specific genetic conditions.

In addition to genes and diseases, OMIM also lists genetic types and subtypes, as well as testing resources for certain conditions. This includes information on genetic tests that can be used to detect changes or variants in specific genes, such as the SERPING1 gene.

OMIM is a valuable tool for healthcare professionals and researchers who are interested in understanding the genetic basis of various health conditions. It provides a comprehensive catalog of genes and diseases, along with references to scientific articles and databases that contain additional information.

Gene and Variant Databases

There are several gene and variant databases that provide information on the SERPING1 gene and related variants, including those associated with angioedema. These databases serve as valuable resources for genetic testing, research, and clinical diagnosis of various conditions.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SERPING1 gene, including the associated diseases, variant types, and references to scientific articles and studies.
• PubMed: PubMed is a database of scientific articles and publications. It contains a vast collection of research papers on the SERPING1 gene, its variants, and their involvement in different diseases and health conditions.
• National Center for Biotechnology Information Gene (NCBI Gene): NCBI Gene provides detailed information on the SERPING1 gene, including its aliases, names, genomic location, and links to other databases and resources.
• Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of human gene mutations associated with genetic diseases. It includes information on the SERPING1 gene variants and their clinical significance.

Additionally, there are specific databases and registries focused on hereditary angioedema and other related conditions. These resources provide curated information on genetic testing, variant databases, and clinical management guidelines.

It is important to consult these databases and resources when performing genetic testing or researching the SERPING1 gene and its variants. They provide valuable information on the genetic changes involved in angioedema and other related diseases, helping improve diagnostics and patient care.

Disclaimer: The information listed above is for reference purposes only and should not replace professional medical advice. It is always recommended to consult with healthcare professionals or genetic counselors for accurate diagnosis and guidance.

References

• OMIM: Online Mendelian Inheritance in Man (OMIM). SERPINA1 gene. Retrieved from https://www.omim.org/entry/107400
• PubMed: PubMed is a database of scientific articles. You can search for articles on the SERPING1 gene and related topics. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
• GeneReviews: GeneReviews is a comprehensive resource for information on genetic conditions. It provides in-depth information on the SERPING1 gene and hereditary angioedema. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1209/
• Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests for the SERPING1 gene and related conditions. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
• Human Gene Mutation Database (HGMD): HGMD is a catalog of genetic variants and their associated diseases. You can find information on variants in the SERPING1 gene and their clinical significance. Retrieved from http://www.hgmd.cf.ac.uk/
• Genetic and Rare Diseases Information Center (GARD): GARD provides information on genetic and rare diseases, including hereditary angioedema. Retrieved from https://rarediseases.info.nih.gov/diseases/8349/hereditary-angioedema