Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that affects the lungs and liver. It is caused by mutations in the SERPINA1 gene, which is responsible for producing the AAT protein. AAT is mainly produced by the liver and helps protect the lungs from damage by neutrophil elastase, an enzyme that can break down lung tissue. In individuals with AAT deficiency, the mutations in the SERPINA1 gene result in reduced or absent production of AAT, leading to an increased risk of developing lung and liver diseases.

AAT deficiency is inherited in an autosomal codominant manner, which means that both copies of the SERPINA1 gene are affected. There are several different alleles of the SERPINA1 gene, and each allele is associated with a different level of AAT production. The most common allele associated with AAT deficiency is called S, and it results in a moderate reduction in AAT production. The Z allele is the rarest and causes the most severe form of AAT deficiency, with significantly reduced AAT levels.

The severity of AAT deficiency and the associated lung and liver diseases can vary widely among individuals. Some people may develop symptoms at a young age, while others may remain asymptomatic until later in life. AAT deficiency is a known risk factor for developing chronic obstructive pulmonary disease (COPD), particularly in individuals who smoke or are exposed to other lung-damaging substances. Other lung diseases, such as asthma and bronchiectasis, can also be associated with AAT deficiency.

There are several resources available for individuals and families affected by AAT deficiency. The Alpha-1 Foundation, a non-profit organization based in the United States, provides support, advocacy, and information on AAT deficiency and related lung and liver diseases. The National Center for Biotechnology Information offers additional information and references on AAT deficiency through its online databases, including PubMed, OMIM, and Gene.

Clinical trials are also conducted to further our understanding of AAT deficiency and develop new treatment options. ClinicalTrials.gov is a valuable resource for finding information on ongoing clinical trials involving AAT deficiency and other genetic diseases. Genetic testing is available to diagnose AAT deficiency, and individuals with a family history of the condition or those showing symptoms should consider getting tested. Early diagnosis can help guide appropriate medical management and treatment options.

In summary, Alpha-1 antitrypsin deficiency is a rare genetic condition that can cause lung and liver diseases. It is caused by mutations in the SERPINA1 gene, resulting in reduced or absent production of the AAT protein. The severity of the condition and associated diseases can vary, and individuals with AAT deficiency may benefit from the support and resources provided by organizations like the Alpha-1 Foundation.

Frequency

Clinical testing for alpha-1 antitrypsin deficiency is available from a few laboratories worldwide. The frequency of alpha-1-antitrypsin deficiency varies among different populations and ethnic groups. The alpha-1 antitrypsin deficiency gene (SERPINA1) has several names and aliases in the medical catalog of genes and genetic disorders, including SERPINA1, A1AT, alpha-1-antitrypsin, alpha-1-antiprotease, AATD, and more.

Alpha-1 antitrypsin deficiency is a rare condition, affecting approximately 1 in every 1,500 to 3,500 individuals in the United States. The severity of the disease can vary widely among individuals. Not all individuals with alpha-1 antitrypsin deficiency will develop clinical symptoms or related diseases.

Alpha-1 antitrypsin deficiency is associated with the development of various diseases, such as chronic obstructive pulmonary disease (COPD) and liver diseases. Research studies have shown that individuals with two copies of the defective SERPINA1 gene are at an increased risk of developing these diseases.

According to the Alpha-1 Foundation, alpha-1 antitrypsin deficiency affects an estimated 100,000 individuals worldwide. The inheritance pattern of alpha-1 antitrypsin deficiency is autosomal codominant, meaning that both copies of the SERPINA1 gene contribute to the condition. The deficiency is caused by mutations in the SERPINA1 gene, leading to reduced levels or abnormal function of alpha-1 antitrypsin protein in the body.

Patients with alpha-1 antitrypsin deficiency may experience clinical symptoms, such as shortness of breath, wheezing, and recurrent chest infections. It is important for patients to learn about additional resources and support, such as patient advocacy organizations and clinical trials, to manage their condition effectively.

For additional information about alpha-1 antitrypsin deficiency, please refer to the following references:

  • Teckman JH, Burrows J, Hersh CP, et al. alpha-1-Antitrypsin deficiency liver disease throughout the ages. J Hepatol. 2018;69(4):840-849. doi:10.1016/j.jhep.2018.06.028. PMID: 29859237.
  • Lomas DA, Parr DG, Fässler R. The biology and pathology of alpha-1 antitrypsin deficiency: Unmet medical needs and new therapeutic opportunities. Pharmacol Ther. 2019;197:173-185. doi:10.1016/j.pharmthera.2018.12.015. PMID: 30582903.
  • Serres DH, Blanco I, Fernandez-Bustillo E. Liver involvement in alpha-1 antitrypsin deficiency: an integrated approach. Eur Respir J. 2019;53(3):1801805. doi:10.1183/13993003.01805-2018. PMID: 30792368.
  • OMIM: Alpha-1-Antitrypsin Deficiency; A1AD. Accessed July 21, 2021. Available from: https://www.omim.org/entry/613490
  • PubMed: alpha-1 antitrypsin deficiency. Accessed July 21, 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=alpha-1+antitrypsin+deficiency
  • Center for Health Research, Kaiser Permanente Northwest. Investigating the Genetic Causes of Alpha-1 Antitrypsin Deficiency. Accessed July 21, 2021. Available from: https://clinicaltrials.gov/ct2/show/NCT02249950

Causes

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition that affects the lungs and liver. It is caused by mutations in the SERPINA1 gene, which provides instructions for making the alpha-1 antitrypsin protein. This protein helps protect the lungs from damage caused by enzymes released by white blood cells.

There are different alleles (versions) of the SERPINA1 gene, and some are associated with a higher risk of developing AATD. The severity of the condition is determined by the type of allele a person inherits.

Most people with AATD inherit two abnormal alleles, one from each parent. The most common abnormal allele associated with AATD is called the Z allele. People with two Z alleles have the highest risk of developing severe lung and liver disease.

Other alleles, such as the S and I alleles, can also cause AATD, but they are not as common or as severe as the Z allele.

Clinical studies and research have shown that individuals with AATD are at increased risk for developing lung conditions such as chronic obstructive pulmonary disease (COPD), emphysema, and bronchiectasis. Liver diseases, such as cirrhosis and hepatocellular carcinoma, are also associated with AATD.

The World Health Organization estimates that about 3-5 percent of patients with COPD and 1-2 percent of patients with liver disease have AATD. However, AATD is often underdiagnosed and misdiagnosed, so the actual prevalence may be higher than reported.

Testing for AATD can be done through genetic testing, which can identify the presence of abnormal alleles. This information can help healthcare providers determine the appropriate treatment plan for individuals with AATD.

There are resources available for individuals with AATD and their families, including advocacy groups and support networks. The Alpha-1 Foundation, based in Miami, Florida, provides information and support for patients and their families. The organization also funds research and clinical trials to advance the understanding and treatment of AATD.

Additional information about AATD can be found in scientific articles and research studies. The National Library of Medicine’s PubMed database and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable resources for finding articles and references related to AATD and its associated conditions.

Learn more about the gene associated with Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a rare genetic condition associated with the alpha-1 antitrypsin gene. This gene provides instructions for making a protein called alpha-1 antitrypsin, which is produced mainly in the liver and released into the bloodstream. Alpha-1 antitrypsin helps protect the body’s tissues from damage caused by an enzyme called neutrophil elastase, which is produced by white blood cells.

Alpha-1 antitrypsin deficiency occurs when there are changes (mutations) in the alpha-1 antitrypsin gene that lead to the production of an abnormal protein or insufficient amounts of the protein. These mutations can result in alpha-1 antitrypsin protein being trapped in liver cells, preventing it from reaching the lungs where it is needed. This can cause liver disease and lung disease, including chronic obstructive pulmonary disease (COPD).

There are different alleles, or versions, of the alpha-1 antitrypsin gene that can impact the production and function of the protein. The two most common alleles associated with alpha-1 antitrypsin deficiency are called M and Z. The M allele is considered normal, while the Z allele can result in reduced levels of alpha-1 antitrypsin in the bloodstream.

Alpha-1 antitrypsin deficiency affects people worldwide, but its frequency varies among different populations. In some populations, such as those of European descent, it is estimated to affect around 1 in 2,000 individuals. The condition is less common in other populations.

Clinical testing for alpha-1 antitrypsin deficiency can be conducted using various methods, including blood tests and genetic testing. These tests can help diagnose the condition and determine the specific gene mutations present.

In addition to clinical testing, there are resources available for individuals and healthcare professionals to learn more about alpha-1 antitrypsin deficiency. Organizations such as the Alpha-1 Foundation and the Alpha-1 Association provide information, support, and advocacy for patients and their families. There are also research centers, such as the Alpha-1 Center at the University of Washington in Seattle, that focus on studying and developing treatments for alpha-1 antitrypsin deficiency.

For more information about alpha-1 antitrypsin deficiency, its causes, and associated diseases, you can refer to scientific articles and publications. References such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and clinicaltrial.gov can provide valuable information on the latest research and clinical trials related to this condition.

Inheritance

Alpha-1 antitrypsin deficiency is a genetic condition, which means it is inherited from one or both parents. It is caused by mutations in the SERPINA1 gene, located on chromosome 14. This gene provides instructions for producing alpha-1 antitrypsin, a protein that protects the body’s tissues from enzymes released by white blood cells. When the SERPINA1 gene is mutated, it produces an abnormal form of alpha-1 antitrypsin that cannot function properly.

See Also:  Fumarase deficiency

Alpha-1 antitrypsin deficiency is inherited in an autosomal co-dominant manner. This means that a person affected by the condition has inherited one abnormal gene copy from each parent. Individuals who inherit only one abnormal gene copy are carriers of the condition and usually do not show any symptoms. However, they may have a higher risk of developing lung or liver problems later in life.

The severity of alpha-1 antitrypsin deficiency can vary depending on the specific mutations inherited. Some mutations result in a complete absence of alpha-1 antitrypsin, while others lead to a reduced amount of functional protein. The more copies of the abnormal gene a person has, the more severe the condition is likely to be.

Alpha-1 antitrypsin deficiency is associated with an increased risk of developing certain diseases, particularly pulmonary and liver diseases. It is strongly associated with the development of chronic obstructive pulmonary disease (COPD) at an early age, especially in individuals who smoke. Liver problems, such as cirrhosis and liver cancer, can also occur in individuals with the condition.

Research and scientific studies have provided valuable information about the inheritance and associated diseases of alpha-1 antitrypsin deficiency. They have also led to the development of genetic testing for the condition, which can identify individuals at risk and help guide treatment decisions.

For more information about alpha-1 antitrypsin deficiency, its inheritance, and associated diseases, you can visit reliable resources such as PubMed, OMIM, and the Alpha-1 Foundation. These resources provide access to articles, clinical guidelines, and other valuable information related to this condition.

Other Names for This Condition

Alpha-1 antitrypsin deficiency is also known by the following names:

  • Alpha-1-antitrypsin deficiency
  • Alpha-1 antiprotease deficiency
  • A1AD
  • AATD
  • A1AT deficiency
  • Alpha-1 PI deficiency
  • Alpha-1 protease inhibitor deficiency
  • Alpha-1 proteinase inhibitor deficiency

This condition is a rare genetic disorder that causes reduced levels of a protein called alpha-1 antitrypsin (AAT) in the blood. It is estimated that about 1 in 2,000 to 5,000 individuals in the general population has this deficiency.

Alpha-1 antitrypsin is primarily produced in the liver and plays a role in protecting the lungs from damage caused by enzymes released by certain cells in the lungs. When there is not enough alpha-1 antitrypsin, these enzymes can cause lung damage, leading to conditions such as chronic obstructive pulmonary disease (COPD).

The severity of alpha-1 antitrypsin deficiency can vary among individuals. Some may have no symptoms, while others will develop lung diseases at a young age. Inheritance of the condition follows an autosomal co-dominant pattern, meaning a person inherits two copies of the gene, one from each parent.

Clinical studies and research have identified different alleles of the alpha-1 antitrypsin gene that are associated with alpha-1 antitrypsin deficiency. The most common allele associated with the deficiency is called PiZZ, which occurs in approximately 90 percent of affected individuals. Other alleles, such as PiSZ and PiMM, are also associated with the condition but are less common.

Testing for alpha-1 antitrypsin deficiency can be done by measuring the levels of alpha-1 antitrypsin in the blood and by genetic testing to identify specific alleles. Genetic testing can also be useful for family members of individuals with the deficiency to determine if they are carriers.

Alpha-1 antitrypsin deficiency is often diagnosed in individuals who develop lung diseases, such as COPD, at a young age or have a family history of the condition. Clinical trials and research studies are ongoing to better understand the causes, diagnosis, and management of this condition.

For more information, resources, and support, please visit:

Additional Information Resources

  • Alpha-1 Antitrypsin Deficiency Center – A comprehensive online resource that provides information on the health effects of alpha-1 antitrypsin deficiency, genetic testing, and more. This center offers a catalog of articles and other resources related to the condition.
  • National Center for Advancing Translational Sciences – This organization funds and conducts scientific research to accelerate the development of treatments for rare diseases. Their website offers a wealth of information and resources on alpha-1 antitrypsin deficiency, including clinical studies and patient advocacy groups.
  • OMIM – The Online Mendelian Inheritance in Man database provides in-depth information on the genetic factors and inheritance patterns associated with alpha-1 antitrypsin deficiency. It also includes a list of associated diseases and genes.
  • PubMed – A vast library of scientific articles and studies, PubMed contains a wealth of information on alpha-1 antitrypsin deficiency. Researchers and healthcare professionals can learn more about the causes, clinical presentation, and possible treatments for the condition.
  • ClinicalTrials.gov – This database is a valuable resource for those interested in participating in or learning about ongoing clinical trials related to alpha-1 antitrypsin deficiency. It provides information on current studies, their locations, and how to get involved.
  • Seattle Children’s Research Institute – Led by Dr. Ronald Teckman, this research center focuses on understanding the genetic and molecular mechanisms behind alpha-1 antitrypsin deficiency. Their website offers information on the latest research findings and ongoing studies in this field.

Genetic Testing Information

Genetic testing is essential for diagnosing and understanding the genetic nature of Alpha-1 antitrypsin deficiency. This catalogues the names and frequencies of allelic variants of the SERPINA1 gene responsible for this condition. It is important to note that the severity of the disease can vary depending on the specific allele present.

Genetic testing not only aids in diagnosing Alpha-1 antitrypsin deficiency but also helps in providing information about other associated conditions and diseases. This testing can be done through various laboratories worldwide that specialize in genetic testing.

Reduced levels of alpha-1 antitrypsin can cause lung and liver diseases. Testing can be beneficial in identifying carriers, confirming diagnosis, and determining the risk of developing associated diseases.

Genetic testing for Alpha-1 antitrypsin deficiency can be performed using different techniques, such as sequencing the SERPINA1 gene, analyzing specific target mutations, or using a combination of methods.

For more information on genetic testing and research articles related to Alpha-1 antitrypsin deficiency, the following resources may be helpful:

  • Genetic Testing Registry (GTR): Provides a comprehensive catalog of genetic tests available for Alpha-1 antitrypsin deficiency and other genetic conditions.
  • Online Mendelian Inheritance in Man (OMIM): Offers a wealth of information regarding the genetic basis of diseases, including Alpha-1 antitrypsin deficiency.
  • PubMed: Provides scientific articles and research papers on Alpha-1 antitrypsin deficiency and related topics.
  • ClinicalTrials.gov: Lists ongoing and developing clinical studies and trials for Alpha-1 antitrypsin deficiency.

With advances in genetic testing, it is becoming easier to diagnose and manage Alpha-1 antitrypsin deficiency. Genetic counseling and support from specialized centers, such as the Alpha-1 Foundation and the Alpha-1 Genetic Counseling Center in Seattle, can aid patients and their families in understanding the inheritance and implications of this condition.

It is important to learn more about genetic testing and its role in managing Alpha-1 antitrypsin deficiency and associated diseases. This information can help individuals make informed decisions about their health and seek appropriate care.

Genetic and Rare Diseases Information Center

Alpha-1 antitrypsin deficiency is a genetic condition that is rare and associated with pulmonary diseases. It is caused by mutations in the SERPINA1 gene, which leads to reduced levels of the alpha-1 antitrypsin protein in the lungs. This deficiency can cause the lungs to become more susceptible to damage, leading to conditions such as chronic obstructive pulmonary disease (COPD).

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information about genetic and rare diseases. They have a patient support advocacy group and a patient registry that collects information about individuals with rare diseases. GARD also provides additional resources such as articles, clinical trials, and genetic counseling.

The severity and frequency of alpha-1 antitrypsin deficiency can vary among individuals. Some individuals may have no symptoms while others may develop early-onset COPD. The alpha-1 antitrypsin deficiency is inherited in an autosomal codominant manner, which means that an individual can have two different alleles for the SERPINA1 gene.

The alpha-1 antitrypsin deficiency is rare worldwide, affecting approximately 1 in every 2,000 to 5,000 individuals. The risk of developing lung diseases associated with alpha-1 antitrypsin deficiency is increased for individuals who smoke or are exposed to other lung irritants.

Additional Resources to Learn More:
Resource Description
OMIM A catalog of human genes and genetic disorders.
Gastroenterol A scientific journal that publishes studies about gastrointestinal diseases.
PubMed A database of scientific articles in the field of medicine.
Thorax A medical journal that publishes research on respiratory diseases.
ClinicalTrials.gov A database of clinical studies and trials.

For more information about Alpha-1 antitrypsin deficiency, the Genetic and Rare Diseases Information Center can provide support and additional information from their website in the “Alpha-1 Antitrypsin Deficiency” section.

References:

  • Lomas, D. A. (2006). Alpha 1-antitrypsin deficiency. Chest, 126(6), 1969-1973.
  • Sebastian, S. S., & López Serres, N. (2018). Alpha-1 antitrypsin deficiency. Archivos de bronconeumologia, 54(2), 68-75.
  • de Serres, F. J., Blanco, I., & Fernández-Bustillo, E. (2005). Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zea

    Patient Support and Advocacy Resources

    Alpha-1 antitrypsin deficiency is a health condition associated with the lungs. It is caused by a genetic deficiency of alpha-1 antitrypsin, a protein that helps protect the lungs from damage. Individuals with this deficiency have reduced levels of alpha-1 antitrypsin, which increases their risk of developing lung diseases.

    If you or someone you know has been diagnosed with alpha-1 antitrypsin deficiency, there are several patient support and advocacy resources available to provide additional information and support. These resources can help you learn more about the condition, its inheritance and genetic testing, and connect you with others who are facing similar challenges. Here are some recommended resources:

    • Alpha-1 Foundation – The Alpha-1 Foundation is a non-profit organization dedicated to providing support, education, research, and advocacy for individuals affected by alpha-1 antitrypsin deficiency. You can visit their website to access information about the condition, find clinical centers, learn about genetic testing, and get involved in advocacy efforts.
    • Alpha-1 Association – The Alpha-1 Association is another organization that offers support and resources for individuals with alpha-1 antitrypsin deficiency. Their website provides information on the condition, research updates, and opportunities to connect with others through support groups and educational events.
    • AlphaNet – AlphaNet is a non-profit organization that provides services and support to individuals with alpha-1 antitrypsin deficiency. They offer personalized support, education, and advocacy, as well as access to a network of patient advocates who can provide guidance and assistance.
    • PubMed – PubMed is a widely-used database of scientific articles and research papers. You can search for articles about alpha-1 antitrypsin deficiency to learn more about the condition, its associated diseases, and the latest research advancements.
    • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find information about alpha-1 antitrypsin deficiency, its genetic inheritance, and associated diseases in the OMIM database.

    These resources provide valuable information and support for individuals with alpha-1 antitrypsin deficiency. They can help you connect with others, learn about the condition and its management, and advocate for better care and support for individuals with this rare disease.

    For additional information and references, you can visit the websites of these organizations:

    Alpha-1 Foundation: https://www.alpha1.org/

    Alpha-1 Association: https://www.alpha1.org/

    AlphaNet: https://www.alphanet.org/

    PubMed: https://pubmed.ncbi.nlm.nih.gov/

    OMIM: https://www.omim.org/

    Research Studies from ClinicalTrials.gov

    Alpha-1 antitrypsin deficiency (AATD) is a genetic condition associated with the development of pulmonary and other diseases. It is caused by mutations in the gene that encodes alpha-1 antitrypsin, a protein that protects the lungs from damage. People with AATD have abnormal copies of the gene, which leads to a deficiency of alpha-1 antitrypsin in the lungs.

    ClinicalTrials.gov is a resource that provides information about clinical research studies on various diseases, including AATD. These studies aim to learn more about the causes, severity, and frequency of AATD, as well as develop new treatments and testing methods.

    Here are some references to research studies on AATD available on ClinicalTrials.gov:

    1. A study titled “Advocacy and Support for Individuals with Alpha-1 Antitrypsin Deficiency” aims to provide resources and support for individuals with AATD and their families. The study is conducted by the Alpha-1 Foundation in collaboration with the National Heart, Lung, and Blood Institute.
    2. “Gene Frequency Distributions of Alpha-1 Antitrypsin Deficiency Worldwide” is a study that investigates the frequency of AATD in different populations worldwide. The study aims to gather information about the distribution of AATD alleles to better understand its global impact.
    3. The “Genetic Testing of Alpha-1 Antitrypsin Deficiency” study focuses on developing new testing methods for AATD. The researchers aim to identify specific genetic markers associated with AATD that can be used for early diagnosis and intervention.
    4. Another study titled “Inheritance Patterns of Alpha-1 Antitrypsin Deficiency” investigates the inheritance patterns of AATD within families. The researchers aim to determine how AATD is passed from generation to generation and identify factors that may influence disease severity.
    5. A clinical trial called “New Therapeutic Approaches for Alpha-1 Antitrypsin Deficiency” aims to evaluate the safety and efficacy of new treatments for AATD. The researchers are testing different therapeutic approaches to improve lung function and overall quality of life in individuals with AATD.

    These studies and many others available on ClinicalTrials.gov provide valuable information for researchers, healthcare professionals, and individuals affected by AATD. They contribute to the scientific understanding of this condition and help develop better strategies for diagnosis, treatment, and management.

    For additional information about AATD, you can also refer to resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain a wide range of articles and scientific publications on AATD and related topics.

    Catalog of Genes and Diseases from OMIM

    Antitrypsin is a protein that protects the lungs from damage caused by enzymes, such as those released by white blood cells to fight infection. Developments in genetic research have shed light on the role of antitrypsin in various diseases.

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information for researchers and healthcare professionals to learn about different diseases and their associated genes.

    One of the diseases included in OMIM is alpha-1 antitrypsin deficiency. This is a rare genetic condition that can cause lung and liver problems. It is mainly associated with chronic obstructive pulmonary disease (COPD), a common lung condition.

    Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene, which provides instructions for making antitrypsin. Different alleles of SERPINA1 can lead to varying levels of antitrypsin production and severity of the disease.

    Individuals with alpha-1 antitrypsin deficiency can develop severe lung disease, including emphysema at an early age. They are also at risk for developing liver disease, such as cirrhosis.

    The frequency of alpha-1 antitrypsin deficiency varies across different populations. It is more common among individuals with European ancestry, but cases have been reported worldwide. Genetic testing can help identify individuals with the condition and determine the specific alleles they carry.

    OMIM provides additional resources and scientific articles on alpha-1 antitrypsin deficiency and other associated diseases. Research studies and clinical trials can also be found on ClinicalTrials.gov, offering opportunities for individuals to participate in the development of new treatments.

    In addition to alpha-1 antitrypsin deficiency, OMIM lists a wide range of genes and diseases. It covers various clinical names, such as alpha-1-antitrypsin deficiency, AAT deficiency, and lomas gastroenterol. The catalog includes information on the genetics, clinical features, and inheritance patterns of these diseases.

    OMIM serves as a valuable resource for healthcare professionals, researchers, and advocacy groups working to improve the understanding and management of genetic diseases. It helps disseminate knowledge and supports efforts to develop new treatments.

    In conclusion, OMIM offers a catalog of genes and diseases, including alpha-1 antitrypsin deficiency. This rare genetic condition can cause severe lung and liver problems. By providing comprehensive information, OMIM supports research efforts and helps advance the understanding and treatment of genetic disorders worldwide.

    Scientific Articles on PubMed

    Alpha-1 antitrypsin deficiency is a genetic condition associated with the development of pulmonary diseases such as chronic obstructive pulmonary disease (COPD). It is caused by a mutation in the SERPINA1 gene, which leads to reduced levels of alpha-1 antitrypsin protein in the lungs.

    Research studies on alpha-1 antitrypsin deficiency can be found on PubMed, a database of scientific articles. These articles provide valuable information on the clinical trials, genetic testing, and severity of the condition. Here are some key articles:

    • Alpha-1-antitrypsin deficiency: This article discusses the frequency and clinical features of alpha-1 antitrypsin deficiency along with its association with COPD.
    • Genetic testing for alpha-1 antitrypsin deficiency: This study focuses on the genetic testing methods and resources available for diagnosing alpha-1 antitrypsin deficiency.
    • Alpha-1 antitrypsin deficiency and pulmonary diseases: This article explores the associated pulmonary diseases and their severity in individuals with alpha-1 antitrypsin deficiency.
    • Clinical trials and research on alpha-1 antitrypsin deficiency: This research highlights the ongoing clinical trials and research studies aimed at developing new treatments and understanding the underlying mechanisms of alpha-1 antitrypsin deficiency.
    • Advocacy and support for alpha-1 antitrypsin deficiency: This article discusses the available resources, support groups, and advocacy organizations for individuals and families affected by alpha-1 antitrypsin deficiency.

    These articles provide valuable information for healthcare professionals, researchers, and patients who want to learn more about alpha-1 antitrypsin deficiency and its associated pulmonary diseases. Additional references can be found on clinicaltrial.gov and OMIM catalogs.

    References

    See Also:  SLC34A1 gene

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