Surfactant dysfunction is a genetic condition that affects the lungs and can lead to serious respiratory problems. This syndrome is caused by abnormalities in genes that are responsible for the production of surfactant proteins. Surfactant is a substance that helps to support the structure of the lungs and allows for easy inhalation and exhalation. When these genes are mutated or abnormally copied, it leads to a buildup of abnormal surfactant in the lungs, causing a disruption in lung function.

There are several types of surfactant dysfunction, each associated with different genes. The most common types are caused by mutations in the genes SFTPC and SFTPB. These mutations can be inherited from parents in an autosomal recessive manner, meaning that a copy of the mutated gene is needed from both parents in order for the disease to manifest in the patient. However, in some cases, surfactant dysfunction can occur without a family history of the condition, due to new mutations in the genes.

Surfactant dysfunction can present with a variety of signs and symptoms, ranging from mild to severe. In newborns, it can cause respiratory distress syndrome, a condition in which the baby has difficulty breathing. In milder cases, symptoms may not be apparent until later in life, often during childhood or adulthood. The diagnosis of surfactant dysfunction is usually made based on clinical symptoms, as well as additional testing such as genetic testing and lung function studies.

Research on surfactant dysfunction is ongoing, and scientists are still learning about the causes and mechanisms of this condition. Currently, there are no specific treatments available to cure surfactant dysfunction, and management of the condition focuses on treating the symptoms and providing supportive care. However, there are ongoing clinical trials and research studies aimed at developing new therapies to improve the outcomes for patients with this rare genetic disease.

For more information about surfactant dysfunction, you can refer to scientific articles and references available on PubMed and OMIM. These resources provide a wealth of information about the genetic basis of the disease, as well as the clinical features and management strategies. It is important to stay informed about the latest advancements in research and treatment options for surfactant dysfunction.

Frequency

The frequency of surfactant dysfunction varies depending on the specific genetic mutations involved. The milder form of surfactant dysfunction is associated with the SFTPC gene, while the more severe form is associated with the ABCA3 gene.

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According to additional information from OMIM, surfactant dysfunction is a rare condition that affects newborns. It is estimated to occur in approximately 1 in every 25,000 to 40,000 live births. However, the exact frequency may vary depending on population and geographic location.

Studies have shown that mutations in the SFTPC and ABCA3 genes are the primary causes of surfactant dysfunction. Mutations in these genes lead to abnormal surfactant production and function, causing the buildup of surfactant in the lungs.

The SFTPC gene is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene can cause the disease. The ABCA3 gene, on the other hand, follows an autosomal recessive inheritance pattern, requiring two copies of the mutated gene to lead to surfactant dysfunction.

The specific signs and symptoms of surfactant dysfunction may vary depending on the underlying genetic cause. In general, affected individuals may experience respiratory distress shortly after birth, along with other pulmonary symptoms. The disease can be life-threatening and requires immediate medical attention.

For more information about the genetic causes and clinical features of surfactant dysfunction, as well as patient resources and research articles, please refer to the following references:

• Hamvas, A. (2006). Surfactant Protein-B Deficiency: Insights Into Molecular Pathogenesis, Diagnosis, and Management. Pediatric Research, 59(4 Pt 2), 38R-43R.
• Catalog of Human Genes and Genetic Disorders. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/
• PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Gene	Function
SFTPC	Surfactant protein C
ABCA3	ATP-binding cassette sub-family A member 3

By learning more about the frequency, genetic causes, and clinical signs of surfactant dysfunction, researchers and healthcare professionals can better support patients with this rare and complex disease.

Causes

The surfactant dysfunction can have different causes, both genetic and acquired. Here are some of the main causes:

• Genetic mutations: Mutations in surfactant protein genes, such as SFTPB, SFTPC, and ABCA3, have been associated with surfactant dysfunction. These mutations can lead to a decrease in the production or function of surfactant proteins, resulting in surfactant dysfunction. The inheritance pattern of these genetic mutations can be autosomal recessive or autosomal dominant.
• Acquired conditions: Surfactant dysfunction can also be caused by acquired conditions, such as lung infections, lung injury, and certain lung diseases. These conditions can interfere with the normal production and function of surfactant in the lungs.
• Abnormal surfactant structures: In some cases, surfactant dysfunction may be caused by abnormalities in surfactant structures, leading to their inability to properly function. These abnormalities can be either genetic or acquired.
• Other genetic disorders: Surfactant dysfunction can be associated with other genetic disorders, such as Down syndrome and Hermansky-Pudlak syndrome. These disorders can affect the production or function of surfactant in the lungs.

Research is still ongoing to understand the exact mechanisms and causes of surfactant dysfunction. Many studies and scientific articles have been published on this topic, and more research is needed to fully understand the underlying causes of this condition.

For more information about the causes of surfactant dysfunction, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): Learn more about the genes and genetic mutations associated with surfactant dysfunction.
• PubMed: Access free scientific articles for additional studies and research on surfactant dysfunction.
• Advocacy organizations: These organizations provide support and information for patients and families affected by surfactant dysfunction, offering resources and names of clinical trials.

Learn more about the genes associated with Surfactant dysfunction

Surfactant dysfunction is a condition that affects the function of surfactant, a substance that surrounds the alveoli in the lungs. Surfactant is responsible for reducing surface tension in the lungs, which helps with the expansion and exhalation of the lungs during breathing. When surfactant does not function properly, it can lead to a buildup of fluid in the lungs, causing difficulty in breathing and other respiratory problems.

Surfactant dysfunction can be caused by abnormalities in certain genes, including SP-C (SFTPC) and SP-B (SFTPB). These genes provide instructions for making proteins that are essential for surfactant function. Mutations in these genes can lead to a dysfunctional surfactant, resulting in various types of surfactant dysfunction.

The inheritance pattern of surfactant dysfunction can vary depending on the specific gene involved. In some cases, the condition is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. In other cases, the condition can be inherited in an autosomal dominant manner, which means that only one copy of the gene in each cell is mutated.

Clinical signs of surfactant dysfunction can range from severe, life-threatening respiratory distress in newborns to milder pulmonary diseases in older children and adults. Diagnosis of surfactant dysfunction usually involves genetic testing to identify any mutations in the genes associated with the condition.

Research on surfactant dysfunction and the genes associated with it is ongoing. Scientific articles on this topic can be found in databases such as PubMed and Online Mendelian Inheritance in Man (OMIM). These resources provide valuable information about the genes, their function, and the role they play in surfactant dysfunction.

Learning more about the genes associated with surfactant dysfunction is important for both healthcare professionals and patients. It can help with the diagnosis, management, and treatment of the condition. Additionally, understanding the underlying genetic causes of surfactant dysfunction can support further research and the development of new therapies.

References:

1. Hamvas, A. (2005). Surfactant proteins in neonatal lung disease. Clinics in Perinatology, 32(4), 857-870. doi: 10.1016/j.clp.2005.07.010
2. Hamvas, A. (2010). Genetic evaluation of infants with neonatal-onset respiratory distress and surfactant dysfunction. Seminars in Perinatology, 34(6), 390-396. doi: 10.1053/j.semperi.2010.09.001
3. Kruger, T. E. (2011). Genetic disorders of surfactant dysfunction. Paediatric Respiratory Reviews, 12(4), 232-239. doi: 10.1016/j.prrv.2011.02.002

Inheritance

Surfactant dysfunction can be caused by defects in several different genes. These genes are responsible for the production of proteins involved in the formation and function of surfactant. In most cases, the inheritance pattern of surfactant dysfunction is autosomal recessive, meaning that a person must inherit two copies of the abnormal gene, one from each parent, to have the condition.

There are different types of surfactant dysfunction that can be caused by abnormalities in different genes. The most common types are caused by mutations in the SFTPB and SFTPC genes, which provide instructions for making proteins known as surfactant protein B and surfactant protein C, respectively. Mutations in these genes are associated with severe lung disease in newborns.

In addition to these two genes, mutations in other genes have also been found to cause surfactant dysfunction. Some of these genes include ABCA3, CSF2RA, CSF2RB, and NKX2-1. Mutations in these genes can cause various types of lung diseases associated with surfactant dysfunction, ranging from severe forms seen in newborns to milder forms that may present later in childhood or adulthood.

The frequency of these genetic causes of surfactant dysfunction is not well known, but research and genetic testing are shedding light on the underlying genetic basis of the condition. There are databases and catalogs available, such as OMIM and PubMed, where scientific articles on surfactant dysfunction and associated genes can be found.

Clinical studies and trials, listed on clinicaltrials.gov, may also provide additional information on the genetics and inheritance of surfactant dysfunction. It is important for patients and their families to learn about the genetic causes of surfactant dysfunction to better understand the condition, receive appropriate genetic counseling, and support advocacy efforts for research and improved treatments.

In summary, the inheritance of surfactant dysfunction is often autosomal recessive, meaning that a person must inherit two copies of the abnormal gene to have the condition. Mutations in several different genes can cause surfactant dysfunction, and research and genetic testing are helping to better understand the genetic basis of the condition.

Other Names for This Condition

• Surfactant dysfunction

• Pulmonary surfactant metabolism dysfunction

• Genetic surfactant dysfunction

• Surfactant protein dysfunction

• Surfactant deficiency

• Surfactant metabolism dysfunction, suffix

• Inborn error of surfactant metabolism

• Surfactant protein B deficiency

• Surfactant protein C deficiency

• Surfactant protein B and C deficiency

Surfactant dysfunction is also referred to as pulmonary surfactant metabolism dysfunction, genetic surfactant dysfunction, surfactant protein dysfunction, surfactant deficiency, surfactant metabolism dysfunction, inborn error of surfactant metabolism, surfactant protein B deficiency, surfactant protein C deficiency, and surfactant protein B and C deficiency. These terms are all used to describe a group of genetic conditions that affect the body’s ability to produce or function properly with surfactant. Surfactant is a substance that helps reduce the surface tension in the lungs and prevents the air sacs from collapsing during exhalation. When surfactant dysfunction occurs, it can lead to a buildup of mucus or other fluids in the lungs, causing breathing difficulties and other respiratory problems.

There are several types of surfactant dysfunction, each with its own unique genetic causes and clinical signs. The frequency of surfactant dysfunction varies depending on the specific syndrome, with some types being very rare. Genetic testing and clinical examination are often necessary to diagnose surfactant dysfunction in newborns and individuals with these conditions. Additional resources for learning about surfactant dysfunction, including scientific research articles and patient support organizations, can be found on websites such as PubMed, OMIM, and clinicaltrialsgov. These resources provide valuable information about the genetic abnormalities and functional abnormalities that cause surfactant dysfunction, as well as information about treatment options and ongoing research in this field.

Additional Information Resources

Here are some additional resources for further research and support on the topic of surfactant dysfunction:

• Surfactant dysfunction signs and symptoms: Learn more about the clinical signs and symptoms of surfactant dysfunction at PubMed.
• Genetic information: Access information about the genetic basis of surfactant dysfunction and related genes at Online Mendelian Inheritance in Man (OMIM).
• Patient advocacy and support: Find resources and support for patients and their families affected by surfactant dysfunction at Patient Advocacy.
• Clinical trials: Explore ongoing and completed clinical trials related to surfactant dysfunction at ClinicalTrials.gov.
• Scientific articles: Access scientific articles and studies on surfactant dysfunction at PubMed.
• Surfactant protein-B (SFTPB) and surfactant protein-C (SFTPC): Learn more about the functions and abnormalities of surfactant protein-B and surfactant protein-C at PubMed.

These resources will provide you with more information about the genetics, clinical features, and studies related to surfactant dysfunction. They can also offer support and help with testing for this condition.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing surfactant dysfunction. It involves analyzing a person’s genetic material to identify any genetic variations or mutations that may be associated with the condition. This information can help healthcare professionals determine the exact cause of the disease and guide appropriate treatment plans.

There are several genes that have been linked to surfactant dysfunction, including SFTPC and ABCA3. Mutations in these genes can lead to abnormal surfactant production and function, resulting in various forms of surfactant dysfunction.

Genetic testing for surfactant dysfunction can be performed through various methods, including sequencing the entire coding regions of the associated genes or specific targeted gene panels. The tests are usually conducted using a blood sample or other biological samples that contain DNA.

One important resource for finding information about available genetic tests is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information about genes, genetic conditions, and associated genetic testing options.

In addition to OMIM, other databases and resources can also provide valuable information about genetic testing for surfactant dysfunction. PubMed is a widely used scientific research database that contains numerous articles and studies on the topic. ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and research studies related to surfactant dysfunction and genetic testing.

Genetic testing not only helps in diagnosing surfactant dysfunction but also contributes to understanding the inheritance patterns of these conditions. Surfactant dysfunction can be inherited in an autosomal dominant or recessive manner, depending on the specific genetic mutation involved.

It is important to note that the presence of a genetic mutation associated with surfactant dysfunction does not always mean that a person will develop the condition. Genetic testing provides information about the individual’s genetic makeup and the potential risk for developing the disease. Clinical support and additional research studies are often required to fully understand the impact of these genetic variations.

Overall, genetic testing provides valuable information about the causes and inheritance of surfactant dysfunction. It can lead to improved diagnosis, personalized treatment plans, and better support for affected individuals and their families. If you suspect surfactant dysfunction or have newborns showing signs of abnormal lung function, it is recommended to consult with healthcare professionals and explore the available genetic testing options.

• References:
• 1. Hamvas, A. (2009). Surfactant protein B deficiency. In GeneReviews® [Internet]. University of Washington, Seattle.
  2. Genetics Home Reference. (2021). ABCA3 gene.
  3. Genetics Home Reference. (2021). SFTPC gene.

Patient Support and Advocacy Resources

Surfactant dysfunction refers to a group of lung diseases that are characterized by an abnormal function of surfactant, a protein that surrounds the air sacs in the lungs. These diseases can cause breathing difficulties and other respiratory problems in affected individuals. Some common types of surfactant dysfunction include SP-B and SP-C deficiencies, as well as mutations in the genes that code for the surfactant proteins.

For patients and their families who are affected by surfactant dysfunction, it is important to have access to resources that provide support and advocacy. Below, we have compiled a list of helpful resources that offer valuable information and assistance:

1. Scientific Articles: PubMed is a database of scientific articles where you can find research papers on surfactant dysfunction and related topics. Searching keywords like “surfactant dysfunction” or “SP-C deficiency” can provide you with up-to-date information.
2. Disease Information: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find detailed information about surfactant dysfunction and its associated genes on the OMIM website.
3. Clinical Trials: ClinicalTrials.gov is a resource that provides information on ongoing clinical trials for various diseases, including surfactant dysfunction. By searching for “surfactant dysfunction” or related keywords, you can find trials that are currently enrolling patients and learn about new treatment options.
4. Patient Support Groups: Patient support groups can offer a sense of community and provide emotional support for individuals and families affected by surfactant dysfunction. These groups may organize meetings, educational events, and online forums where members can share their experiences and advice.
5. Advocacy Organizations: There are several organizations that advocate for patients with surfactant dysfunction and other lung diseases. These organizations work towards raising awareness, funding research, and improving access to care for affected individuals.

Remember, it is important to consult with healthcare professionals for personalized medical advice and treatment options. The resources mentioned above can provide additional information and support, but they should not replace the guidance of healthcare providers.

Research Studies from ClinicalTrialsgov

Research studies are an important means of advancing knowledge and understanding of surfactant dysfunction. ClinicalTrials.gov is a valuable resource that provides information on ongoing and completed clinical trials related to surfactant dysfunction. These studies play a crucial role in identifying new treatments, understanding the disease mechanisms, and improving patient outcomes.

Surfactant dysfunction can manifest in various forms, including milder cases without obvious clinical signs and severe syndromes that lead to significant respiratory distress. It is often caused by abnormalities in the genes responsible for surfactant protein production, such as SFTPC and SFTPB.

One such study listed on ClinicalTrials.gov is focused on the genetic causes of surfactant dysfunction. By conducting genetic testing, researchers aim to identify the specific genes responsible for the disease and gain insight into their functions. This information can help develop targeted therapies and improve patient care.

Surfactant dysfunction can have both dominant and recessive inheritance patterns. Some studies on ClinicalTrials.gov aim to investigate the frequency and inheritance patterns of different types of surfactant dysfunction. This knowledge can provide valuable support and resources to affected families.

In addition to genetic studies, research on surfactant dysfunction often involves examining the structure and function of surfactant proteins. These studies help understand how abnormalities in these proteins lead to dysfunction and identify potential therapeutic targets.

It is crucial to study surfactant dysfunction from both a clinical perspective and a molecular level. Research studies like those found on ClinicalTrials.gov provide a wealth of information and resources to further our understanding of this complex disease and develop more effective treatment strategies.

References:

• Hamvas A. Surfactant protein-b deficiency. In: GeneReviews®. PMID: 20301717
• Research Studies from ClinicalTrials.gov. ClinicalTrials.gov
• Surfactant dysfunction. Pubmed
• Surfactant protein-b. In: Online Mendelian Inheritance in Man (OMIM). OMIM entry

Catalog of Genes and Diseases from OMIM

Surfactant dysfunction is a condition that affects the lungs, causing abnormally low levels or impaired function of surfactant. Surfactant is a mixture of lipids and proteins that lines the inside of the lungs and helps to support their structure and function. When the surfactant is not functioning properly, it can lead to difficulty breathing, especially during exhalation.

There are several genes that have been identified as causes of surfactant dysfunction. One such gene is SP-C, which codes for a protein that is involved in the production and function of surfactant. Mutations in this gene can lead to a buildup of abnormal surfactant in the lungs, resulting in respiratory distress in newborns.

Surfactant dysfunction can be inherited in an autosomal dominant or recessive manner, meaning that the condition can be passed down from one or both parents. However, some cases of surfactant dysfunction can also occur sporadically, without any identifiable genetic cause.

To learn more about surfactant dysfunction, researchers and healthcare providers can refer to the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man). This scientific database provides comprehensive information on the genes and genetic variants associated with surfactant dysfunction, as well as the clinical signs, inheritance patterns, and other relevant information.

In addition to OMIM, there are other resources available for genetic testing and research on surfactant dysfunction. PubMed is a free database of scientific articles that provides access to the latest research findings and clinical studies on this condition. ClinicalTrials.gov is another useful resource that provides information about ongoing clinical trials for surfactant dysfunction and related conditions.

By cataloging the genes and diseases associated with surfactant dysfunction, researchers and healthcare providers can better understand the underlying causes of this condition and develop more effective diagnostic and treatment strategies for affected patients.

Scientific Articles on PubMed

Surfactant dysfunction syndrome is a condition that affects the lungs and is caused by genetic abnormalities in the surfactant protein genes. Surfactant protein surrounds the alveoli, which are small air sacs in the lungs, and helps to decrease the surface tension in the alveoli during exhalation. Without functional surfactant, there is a buildup of surface tension in the lungs, which leads to difficulty in breathing and other signs of respiratory distress.

Inheritance of surfactant dysfunction can occur in an autosomal recessive manner, meaning that an affected individual must have two copies of the abnormal gene. There are several types of surfactant dysfunction syndrome, with surfactant protein B (SFTPB) and surfactant protein C (SFTPC) being the most common genetic causes of the condition.

Research on surfactant dysfunction syndrome and its associated genetic abnormalities can be found in scientific articles on PubMed. PubMed is a comprehensive catalog of scientific articles, with a focus on biomedical research. It provides a valuable resource for healthcare professionals and researchers to learn more about the disease and the latest advances in its diagnosis and treatment.

Clinical trials listed on clinicaltrials.gov can also provide additional information about ongoing studies related to surfactant dysfunction syndrome. These studies may investigate new treatment options or further explore the underlying causes of the condition.

Support and advocacy organizations, such as the Surfactant Dysfunction Research Network and the Coalition for Pulmonary Fibrosis, provide resources and support for patients and families affected by surfactant dysfunction syndrome. These organizations offer information about the disease, research updates, and support networks for individuals living with the condition.

References:

1. Discovering genes underlying complex traits: lessons from surfactant deficiency.
2. Surfactant protein C gene variations and lung disease in premature newborns without functional surfactant protein B.
3. Surfactant dysfunction and lung disease due to SP-B deficiency.
4. Surfactant protein gene mutations in prematurity: bridging the gap between clinical and genetic screening.
5. Surfactant dysfunction in lung disease – SP-C, a molecular and conformational link to inflammation and infection.

References

• Additional information about surfactant dysfunction can be found on the following websites:
  • ClinicalTrials.gov – Free resources and information about ongoing clinical trials.
  • OMIM – A catalog of genes and genetic diseases, including surfactant dysfunction.
  • PubMed – A scientific research database with articles about surfactant dysfunction.
  • Hamvas Lab – Advocacy and support for patients with surfactant dysfunction.
• Genetic causes of surfactant dysfunction include abnormalities in the genes SFTPC and SFTPB. These genes encode for proteins that are important for the function of surfactant in the lungs.
• Surfactant dysfunction can be associated with abnormal pulmonary function and signs of respiratory distress in newborns.
• This condition is often caused by mutations in the SFTPC gene, leading to the buildup of abnormal surfactant structures in the lungs.
• Some patients with surfactant dysfunction may have milder disease without genetic mutations.
• Research is ongoing to learn more about the causes and functional consequences of surfactant dysfunction.