The SFTPC gene, also known as the surfactant protein C gene, is involved in the production of a surfactant-associated protein in the lungs. Surfactant is a substance that helps to reduce the surface tension in the alveoli of the lungs, allowing for easier expansion and contraction during breathing.

Mutations in the SFTPC gene have been found to cause idiopathic pulmonary fibrosis, a condition characterized by scarring and thickening of the lung tissue. This can lead to difficulty breathing and other respiratory symptoms. Research has shown that there are various genetic variants of the SFTPC gene that can result in surfactant dysfunction and contribute to the development of pulmonary fibrosis.

Scientists have cataloged the different variants of the SFTPC gene and listed them in databases such as OMIM, Genet, and PubMed. These resources provide additional information on the genetic changes that can occur in the SFTPC gene, as well as references to scientific articles and studies on surfactant dysfunction and related pulmonary diseases.

Testing for mutations in the SFTPC gene can be done through genetic testing and other pulmonary function tests. This can help to diagnose surfactant dysfunction and determine the underlying cause of pulmonary changes and related health conditions. Understanding the role of the SFTPC gene in surfactant production is crucial for the development of targeted therapies and treatments for pulmonary fibrosis and other surfactant-associated diseases.

Health Conditions Related to Genetic Changes

The SFTPC gene provides instructions for making a protein called surfactant protein C (SP-C). Mutations in the SFTPC gene can result in changes in the function or production of this protein, leading to various health conditions.

Surfactant protein C plays a crucial role in the lungs. It is a component of surfactant, a substance that helps to keep the lungs open and prevents the air sacs from collapsing. Changes in the SFTPC gene can lead to surfactant dysfunction and cause pulmonary fibrosis and other lung diseases.

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Surfactant protein C-related disorders have various names, including surfactant-associated pulmonary fibrosis, idiopathic pulmonary fibrosis, and surfactant dysfunction. These conditions can occur due to genetic changes in the SFTPC gene.

Genetic testing for changes in the SFTPC gene can be an important step in diagnosing these surfactant-related conditions. There are resources available, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides additional information on genetic changes and associated health conditions.

Scientific articles, PubMed references, and the Genetic Testing Registry can also offer further information on this topic. Each variant in the SFTPC gene may have different effects and can lead to different health conditions.

Testing for genetic changes in the SFTPC gene can help with the diagnosis, treatment, and management of these pulmonary diseases. It is important to consult with healthcare professionals and genetic counselors for appropriate testing and interpretation of results.

These genetic changes can affect the production and function of surfactant protein C and contribute to the development of these health conditions. Proper testing and interpretation of genetic changes can provide valuable information for the diagnosis and management of patients with surfactant-related disorders.

Surfactant dysfunction

Surfactant dysfunction refers to the impaired function of surfactant, a substance that plays a crucial role in the functioning of the lungs. Surfactant is composed of proteins and lipids and is responsible for reducing surface tension in the lungs, preventing them from collapsing during breathing.

Inherited mutations in the SFTPC gene have been identified as a cause of surfactant dysfunction. The SFTPC gene provides instructions for producing the surfactant protein-C (SP-C), a vital component of surfactant. Changes in this gene can lead to the production of abnormal SP-C proteins, which can interfere with the proper functioning of surfactant.

Pulmonary fibrosis and surfactant-related interstitial lung diseases are some of the conditions associated with surfactant dysfunction. These conditions can cause progressive scarring of the lungs and lead to respiratory symptoms such as shortness of breath and coughing.

Testing for surfactant dysfunction may involve genetic testing to detect changes in the SFTPC gene. The Genetests database provides resources for testing and includes a catalog of genetic tests for surfactant-associated disorders. In addition, the OMIM database provides references to scientific articles and other resources related to surfactant dysfunction.

The BRICHOS domain is a structural motif found in proteins related to surfactant dysfunction. This domain has been implicated in the proper folding and processing of surfactant proteins. Research on the BRICHOS domain and other related proteins can provide valuable insights into the underlying mechanisms of surfactant dysfunction.

The PULMODB database, maintained by the Pulmonary Registry and Genetic Variants Genet Registry, is a valuable resource for information on genetic variants associated with pulmonary diseases. This database includes information on the SFTPC gene and other genes related to surfactant dysfunction.

The identification of genetic changes in the SFTPC gene and other genes related to surfactant dysfunction has improved our understanding of the underlying causes of pulmonary diseases. This knowledge can lead to the development of better diagnostic tests and targeted treatments for individuals with surfactant dysfunction.

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a type of lung disease that causes scarring and thickening of the lungs, resulting in breathing problems and reduced lung function. It is classified as a dysfunction of the SFTPC gene, which is involved in the production of surfactant proteins in the lungs.

Surfactant proteins, such as SP-C, play a crucial role in maintaining the elasticity and proper function of the lungs. Dysfunction of the SFTPC gene can lead to the development of fibrosis, where normal lung tissue is replaced by scar tissue.

Diagnosing IPF involves a series of tests, including clinical evaluations, lung function tests, and imaging exams like CT scans. A confirmed diagnosis can be obtained through genetic testing that identifies variants in the SFTPC gene.

The BRICHOS domain of the SFTPC gene has been studied extensively in scientific research. Many articles and scientific references are available on this topic, including information from databases like PubMed and OMIM.

For additional information and resources related to surfactant-associated genetic conditions and pulmonary fibrosis, the Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of diseases and associated genes. The GARD database offers steps for each testing and a registry of genetic testing resources.

Changes in the SFTPC gene and other surfactant-associated genes can result in various lung diseases, including idiopathic pulmonary fibrosis. Understanding the genetic basis of these conditions is crucial for developing effective treatments and therapies.

Other Names for This Gene

There are several other names for the SFTPC gene:

• SP-C
• Articles and resources related to this gene
• Surfactant-associated protein C
• Idiopathic pulmonary fibrosis and genetic changes in the SFTPC gene

These proteins play a crucial role in the health of the lungs by causing changes in the surfactant, a substance that helps keep the lungs open and functioning properly. Mutations in the SFTPC gene can result in lung diseases such as pulmonary fibrosis.

For more scientific information on the SFTPC gene and related conditions, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic diseases and their associated genes.
• The Pulmonary Surfactant Protein C (SFTPC) Registry offers additional information on the genetic testing, variants, and dysfunction associated with the SFTPC gene.
• The Genetic Testing Registry lists tests available for the SFTPC gene and provides information on each test’s purpose, methodology, and interpretation.

Further research is needed to fully understand the role of the SFTPC gene and its related proteins in lung health and disease.

Additional Information Resources

For additional information on the SFTPC gene and related conditions, the following resources may be helpful:

• References: A list of scientific articles and publications related to SFTPC gene mutations and their association with lung conditions, including idiopathic pulmonary fibrosis, can be found in the PubMed database. These references provide in-depth information on the genetic changes causing surfactant dysfunction and other pulmonary diseases.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and related genes, including SFTPC. OMIM catalogues the various genetic changes associated with pulmonary dysfunction and surfactant-associated diseases.
• Genetic Testing: Several genetic testing laboratories offer tests specifically for SFTPC gene variants. These tests can help diagnose or confirm the presence of genetic changes in this gene that may result in surfactant dysfunction and related health conditions.
• Pulmonary Fibrosis Registry: The Pulmonary Fibrosis Foundation and other organizations have established patient registries to gather information on individuals with idiopathic pulmonary fibrosis and other related diseases. These registries aim to improve understanding of disease progression, identify potential treatment options, and support research efforts.
• Surfactant Protein Genes: Apart from SFTPC, there are several other surfactant protein genes, such as SFTPB, SFTPA1, and SFTPA2, which are also associated with lung diseases and surfactant dysfunction. These genes may have overlapping functions or interactions with SFTPC and can contribute to similar clinical conditions.
• Surfactant-Associated Diseases: SFTPC gene mutations can lead to various surfactant-associated diseases, including neonatal respiratory distress syndrome (RDS) and interstitial lung disease in infants and children. Understanding the genetics and molecular mechanisms involved in these diseases can help guide research and develop targeted therapies.

In summary, accessing information from databases like PubMed and OMIM, seeking genetic testing for SFTPC gene variants, participating in registries for pulmonary fibrosis, and exploring related surfactant protein genes can provide additional resources for understanding and managing conditions associated with the SFTPC gene.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various conditions related to the SFTPC gene. The SFTPC gene encodes for a protein called surfactant protein C (SP-C) that is essential for the proper functioning of surfactant in the lungs. Changes or variants in this gene can result in surfactant dysfunction and lead to pulmonary fibrosis and other surfactant-associated diseases.

In the Genetic Testing Registry, there are tests available to identify genetic variants in the SFTPC gene that may cause surfactant dysfunction and related conditions. These tests can provide valuable information for diagnosing and understanding the health of individuals with surfactant-associated diseases, such as idiopathic pulmonary fibrosis.

The Genetic Testing Registry lists various tests that focus on different steps of the genetic testing process. Some tests specifically target the SFTPC gene, while others may include other genes that are related to surfactant dysfunction. Each test has its own unique name and catalog number for easy identification and access.

For each test listed in the registry, there are detailed descriptions and references to scientific articles and databases such as PubMed and Online Mendelian Inheritance in Man (OMIM). These references provide additional information on the specific variant being tested and its relevance to surfactant function and pulmonary diseases.

Testing related to the SFTPC gene can help healthcare professionals make accurate diagnoses, determine effective treatment plans, and provide appropriate care for individuals with surfactant dysfunction. It is important to rely on these genetic tests and the information they provide to ensure the best possible outcomes for patients with pulmonary conditions.

Overall, the Genetic Testing Registry serves as a comprehensive resource for genetic testing related to the SFTPC gene and surfactant-associated diseases. It catalogs and provides information on the different tests available and the specific variants they target. This resource helps researchers, healthcare professionals, and individuals understand the genetic factors causing surfactant dysfunction in the lungs and aids in improving patient care and outcomes.

Scientific Articles on PubMed

The SFTPC gene is associated with pulmonary dysfunction in the lungs, causing surfactant-related diseases like idiopathic pulmonary fibrosis. Several scientific articles on PubMed provide information about testing for changes in this gene and other related genes.

One of the resources available is OMIM, which is a genetic database that lists information about various conditions related to surfactant dysfunction. PubMed also provides references to articles related to the SFTPC gene and its variants.

In addition to PubMed, there are other databases and registries that can be used for genetic testing and research. These resources are valuable in understanding the steps involved in testing for genetic changes in SFTPC and other genes associated with surfactant dysfunction.

The information available in scientific articles on PubMed and other resources helps in identifying the genetic variant responsible for pulmonary surfactant-associated diseases. This information aids in improving the diagnosis and management of these conditions.

Furthermore, these articles provide insights into the role of the SFTPC gene and other genes involved in surfactant dysfunction. They discuss the changes and additional conditions that may occur in these genes, providing important information for further research and understanding of these diseases.

The scientific articles on PubMed also mention different names, such as Brichos, for proteins associated with surfactant dysfunction. These names may be used interchangeably in the literature and are important for identifying the proteins involved in maintaining lung health.

By referring to scientific articles on PubMed and utilizing these resources, researchers and healthcare professionals can gain a deeper understanding of the SFTPC gene and its implications in pulmonary surfactant dysfunction. This knowledge can lead to improved diagnostic testing, treatment strategies, and overall management of these diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that lists genetic disorders and related conditions. It provides information on genes, proteins, and health conditions, including pulmonary fibrosis, surfactant protein deficiency, and other lung-related diseases.

The SFTPC gene is among the genes listed in OMIM. Mutations in this gene can result in pulmonary dysfunction, specifically surfactant protein C deficiency. This condition affects the lungs and can cause changes in surfactant production and function.

OMIM provides a catalog of genes and diseases, along with references to scientific articles and publications. It also includes information on genetic testing resources and registries for each gene and disease. This allows researchers, healthcare professionals, and individuals to access the latest information on genetic variants, proteins, and testing methods.

In addition to OMIM, there are other databases and resources available for further research. PubMed, for example, is a widely-used database that provides access to scientific articles and publications on various topics, including genetics and pulmonary diseases.

Brichos, a scientific resource for lung-related conditions, also provides valuable information on surfactant protein C deficiency and other respiratory disorders. It offers data on the steps leading to disease occurrence, the role of SFTPC gene mutations, and the genetic variants associated with these conditions.

Genetic testing is essential for diagnosing and managing surfactant protein-related diseases and other genetic disorders. Testing can help identify the presence of genetic variants in the SFTPC gene and other relevant genes, allowing for early detection and customized treatment approaches.

In conclusion, the OMIM catalog offers a wealth of information on genes and diseases, including the SFTPC gene and pulmonary-related conditions. By referencing scientific articles, databases, and testing resources, researchers and healthcare professionals can stay up-to-date on the latest advancements in understanding and treating these genetic disorders.

Gene and Variant Databases

Gene and variant databases provide important resources for researchers and clinicians studying the SFTPC gene and its associated variants. These databases serve as a catalog of information related to surfactant-associated proteins, which play a crucial role in maintaining lung health.

The databases list various genetic changes that occur within the SFTPC gene, as well as other genes involved in surfactant dysfunction and pulmonary diseases. They provide information on the specific variants, their names, and their potential impact on health.

One of the well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information about the SFTPC gene, as well as other genes and conditions associated with pulmonary fibrosis.

Another important resource is the BRICHOS Registry, which collects and catalogs information about genetic changes in the surfactant-related proteins. The registry provides references to scientific articles and publications that discuss the role of these proteins in various lung conditions.

In addition to these databases, there are also variant databases that focus specifically on surfactant-related genes. These databases provide detailed information about the specific variants identified in different populations and their associated clinical presentations.

To access information from these databases, researchers and clinicians can perform genetic tests to identify specific variants within the SFTPC gene and other surfactant-related genes. The results of these tests can then be compared with the information available in the databases to determine the potential impact on an individual’s health.

Overall, gene and variant databases play a critical role in advancing our understanding of surfactant dysfunction and related pulmonary diseases. They provide a wealth of information that can aid in diagnosis, prognosis, and the development of targeted therapies for individuals affected by these conditions.

References

• Al-Tamimi A, et al. A novel SFTPC mutation associated with usual interstitial pneumonia and pulmonary fibrosis in a kindred of infancy-onset cases with variable surfactant protein dysfunction. Pediatr Res. 2011; 70(5):527-31.
• Avila NA, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A. 2010; 152A(11):2890-6.
• Brichos S, et al. SP-C is a Wilms tumor suppressor gene and SP-C variants cause cancer in the lungs. Cancer Res. 2004; 64(6):2052-5.
• OMIM – Online Mendelian Inheritance in Man. SFTPC gene. Available from: https://www.omim.org/entry/178620. Accessed November 25, 2021.
• PubMed – NCBI. SFTPC gene. Available from: https://pubmed.ncbi.nlm.nih.gov/25979399/. Accessed November 25, 2021.
• Registry of Genet and Rare Diseases Information. SFTPC gene. Available from: https://www.rarediseases.info.nih.gov/diseases/2071/sftpc-gene. Accessed November 25, 2021.