CFTR gene – Austra Health

The CFTR (cystic fibrosis transmembrane conductance regulator) gene is also known by other names such as ABCC7 and ATP-binding cassette sub-family C member 7. It is primarily found in the epithelial cells of various tissues, including the sweat glands, airways, pancreas, and vas deferens. Mutations in this gene can lead to cystic fibrosis, a hereditary disorder characterized by the production of thick and sticky mucus that affects the respiratory, digestive, and reproductive systems.

The CFTR gene is responsible for the production of a protein that functions as a chloride channel, important for the transport of chloride ions across cell membranes. Mutations in this gene can result in changes to the structure and function of the CFTR protein, leading to the absence or dysfunction of these chloride channels. These changes ultimately disrupt the normal functioning of various organs, leading to the symptoms and complications associated with cystic fibrosis.

Testing for mutations in the CFTR gene is necessary for the diagnosis of cystic fibrosis and other related conditions. There are various genetic testing methods available, including DNA sequencing and rearrangements analysis, which can provide information about specific mutations or changes in the CFTR gene.

References to the CFTR gene can be found in scientific articles, as well as in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other resources. The CFTR gene is also listed in the Human Gene Mutation Database (HGMD) and the CFTR2 database, which provides additional information and resources related to CFTR gene mutations and related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CFTR gene can lead to various health conditions affecting reproductive and digestive functions. These changes, also known as mutations or variants, can cause a range of disorders and hereditary conditions.

One of the main health conditions associated with genetic changes in the CFTR gene is cystic fibrosis (CF). CF is a hereditary disorder characterized by the absence or dysfunction of CFTR channels, leading to the production of thick, sticky mucus. This mucus affects various organs, including the lungs, pancreas, and reproductive system.

People with CF may experience difficulties in breathing, recurrent lung infections, digestive problems, and fertility issues. CF is a lifelong condition that requires regular medical care and management.

In addition to CF, genetic changes in the CFTR gene can also be associated with other health conditions. For example, certain mutations can cause congenital bilateral absence of the vas deferens (CBAVD), which is a condition characterized by the absence of the vas deferens, a part of the male reproductive system. CBAVD can result in infertility and is often associated with CFTR gene mutations.

There are various tests and molecular genetic techniques to identify genetic changes in the CFTR gene. These tests are necessary for accurate diagnosis and understanding of the specific mutations causing the health conditions. Genetic counseling and testing can also be beneficial for individuals and families affected by CF or other related disorders.

To learn more about health conditions related to genetic changes in the CFTR gene, you can refer to scientific articles, databases, and genetic resources. PubMed, OMIM, and the CFTR2 database provide valuable information on CFTR gene mutations and associated diseases. These resources offer free access to scientific literature and references for further reading.

In conclusion, genetic changes in the CFTR gene can result in various health conditions affecting both reproductive and digestive functions. Cystic fibrosis is the most well-known disorder associated with CFTR gene mutations. However, there are also other hereditary conditions, such as CBAVD, that can arise from changes in this gene. Accurate diagnosis, genetic testing, and access to reliable resources are essential for understanding and managing these health conditions effectively.

Congenital bilateral absence of the vas deferens

Congenital bilateral absence of the vas deferens (CBAVD) is a hereditary condition characterized by the absence or blockage of the vas deferens, which is part of the male reproductive system. This condition is usually associated with changes in the CFTR gene, which is also responsible for cystic fibrosis.

For individuals with this condition, the absence or blockage of the vas deferens can prevent sperm from reaching the ejaculate. This can lead to infertility or difficulty in conceiving. CBAVD is typically diagnosed through genetic testing, which looks for changes in the CFTR gene.

References and resources for information about CBAVD and related conditions:

OMIM: The Online Mendelian Inheritance in Man database provides information on inherited genes and genetic disorders. CBAVD and related conditions can be found in the OMIM database.
PubMed: The PubMed database contains scientific articles and research papers on a wide range of topics, including CBAVD and its genetic causes.
Genetics Home Reference: This website provides information on genetic conditions, including CBAVD. It includes descriptions of the genes involved, the functions they play, and the disorders associated with them.
Cystic Fibrosis Foundation: The Cystic Fibrosis Foundation provides resources and support for individuals and families affected by cystic fibrosis and related conditions. They have information on CBAVD and its connection to cystic fibrosis.

Genetic testing and reproductive counseling may be necessary for individuals with CBAVD who are seeking to start a family. These tests can help identify any genetic variants or rearrangements that may be contributing to the condition.

In addition to the CFTR gene, there may be other genes involved in the development of CBAVD. Further research is needed to fully understand the genetic factors that contribute to this condition.

For individuals with CBAVD and related conditions, managing symptoms and maintaining reproductive health may require additional medical interventions. It is important to work closely with healthcare professionals who specialize in genetics and reproductive health to ensure appropriate care.

Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. CF is a common genetic disorder that affects multiple organ systems, including the lungs, digestive system, and reproductive system. It is often associated with pancreatic insufficiency, leading to impaired digestion and absorption of nutrients.

A study published in PubMed provides further information on CFTR gene testing and genetic changes associated with cystic fibrosis.

The CFTR gene is responsible for producing a protein that functions as a channel for the transport of chloride ions across cell membranes. Mutations in this gene can result in the production of a non-functional or impaired CFTR protein, leading to the development of cystic fibrosis.

Cystic fibrosis primarily affects the respiratory system, leading to frequent lung infections, persistent cough, and breathing difficulties. In the digestive system, it can cause pancreatic insufficiency, leading to malabsorption of nutrients and recurrent episodes of pancreatitis.

Cystic fibrosis is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated CFTR gene (one from each parent) to develop the condition. It is more common in individuals of European descent, but can occur in people of any ethnic background.

Genetic testing for cystic fibrosis involves analyzing the CFTR gene for mutations and changes that are known to be associated with the disease. These tests are available through specialized genetic testing laboratories and can provide valuable information for individuals and families affected by or at risk for cystic fibrosis.

Resources such as OMIM (Online Mendelian Inheritance in Man) and the Cystic Fibrosis Mutation Database provide comprehensive information on the genetic changes and mutations associated with cystic fibrosis. These databases are frequently referenced in scientific articles and can be used as additional resources for information on CFTR gene mutations.

In addition, there are registries and databases that collect and catalog information on individuals with cystic fibrosis and related conditions. These resources can provide information on the prevalence of specific CFTR gene mutations in different populations and contribute to our understanding of the genetic basis of cystic fibrosis.

In conclusion, cystic fibrosis is a complex genetic disorder that affects multiple organ systems, including the lungs, digestive system, and reproductive system. Mutations in the CFTR gene lead to impaired transport and function of chloride channels, resulting in the characteristic symptoms and complications of cystic fibrosis. Genetic testing and resources such as OMIM and the Cystic Fibrosis Mutation Database are essential for investigating and understanding the genetic basis of cystic fibrosis.

Hereditary pancreatitis

Hereditary pancreatitis is a genetic condition related to mutations in the CFTR gene. CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene is necessary for the normal function of various organs, including the pancreas.

People with hereditary pancreatitis experience recurring episodes of severe abdominal pain due to inflammation of the pancreas. This condition is caused by genetic mutations that affect the function of the CFTR gene and lead to abnormal transport of ions and water across cell membranes. As a result, digestive enzymes are not properly secreted, leading to digestive disorders.

Hereditary pancreatitis is listed under the “Pancreatitis” section in the Online Mendelian Inheritance in Man (OMIM) catalog of genetic disorders. The CFTR gene is also associated with other conditions such as cystic fibrosis and congenital bilateral absence of the vas deferens.

To diagnose hereditary pancreatitis, genetic testing can be conducted to identify mutations in the CFTR gene. This testing can be part of a broader genetic panel or specifically targeted to the CFTR gene. Genetic counseling is also a necessary part of the testing process to understand the implications of the results.

Hereditary pancreatitis is a lifelong condition that requires ongoing medical management to control pain and support pancreatic health. Treatment may involve pain management strategies, enzyme replacement therapies, and dietary changes.

Scientific articles and resources related to hereditary pancreatitis can be found through databases such as PubMed and OMIM. These resources provide information on the genetics, symptoms, diagnosis, and management of the condition. Additionally, the CFTR2 Registry provides a comprehensive catalog of CFTR gene variants and their associated clinical implications.

References:

“CFTR gene.” Genetics Home Reference.
“Hereditary pancreatitis.” Online Mendelian Inheritance in Man (OMIM).
“Hereditary pancreatitis.” National Organization for Rare Disorders (NORD).
“Hereditary pancreatitis.” CFTR2 Registry.

Other disorders

In addition to cystic fibrosis, mutations in the CFTR gene can lead to other hereditary disorders that affect various organs and systems in the body. These disorders are collectively known as CFTR-related disorders.

Pancreatitis

One of the conditions caused by CFTR gene mutations is pancreatitis, which is inflammation of the pancreas. The CFTR gene is responsible for the transport of digestive enzymes from the pancreas to the small intestine. Mutations in this gene can disrupt this process and lead to the development of pancreatitis.

Reproductive conditions

Mutations in the CFTR gene can also cause reproductive conditions. In males, these mutations can lead to bilateral absence of the vas deferens (the tube that carries sperm from the testes). This condition is known as congenital bilateral absence of the vas deferens (CBAVD). In females, CFTR gene mutations can affect fertility and lead to difficulty in conceiving.

Other digestive disorders

CFTR gene mutations can also result in other digestive disorders apart from cystic fibrosis. These disorders may cause symptoms such as abdominal pain, changes in bowel movements, and difficulty absorbing nutrients from food.

References: The following references provide additional information about CFTR-related disorders and related genetic testing:
CFTR2: This is a comprehensive catalog of CFTR gene changes and their associated clinical consequences.
OMIM: This is a database of human genes and genetic disorders, including information about CFTR gene mutations and related conditions.
PubMed: This is a database of scientific articles in the field of medicine, where you can find research studies related to CFTR gene mutations and their impact on health.

Testing for CFTR gene mutations and related conditions can be conducted through various genetic testing methods. These tests can help identify specific mutations in the CFTR gene and provide insights into the individual’s risk of developing CFTR-related disorders.

Genetic counseling and resources related to CFTR-related disorders and genetics can be accessed to provide individuals and families with information and support regarding these conditions.

Other Names for This Gene

The CFTR gene, also known as the cystic fibrosis transmembrane conductance regulator gene, is a leading genetic mutation related to cystic fibrosis, a hereditary disorder that affects the body’s reproductive and digestive systems. This gene is listed under various names, including:

Cystic fibrosis conductance regulator (CFCR)
Ductus deferens, congenital bilateral absence of vas deferens (DBD/CBAVD)
Cystic fibrosis of pancreas; pancreatic failure, hereditary (heterozygote)
MFKS; congenital absence of vasa deferentia (CAVD)
CFTR/MRP; pancreatic androgen-dependent protein (PAND)

The CFTR gene is responsible for the production of a protein that functions as a channel for the transport of chloride ions across cell membranes. Mutations and changes in this gene can lead to the absence or malfunction of these chloride channels, resulting in various conditions and diseases.

Testing for CFTR gene mutations is often necessary for the diagnosis of cystic fibrosis and other related conditions. The CFTR gene is part of the central catalog of genes known as OMIM, which provides additional information, references, and resources on genetic disorders and related genetics. As a result, the CFTR gene has been the subject of numerous scientific articles and research studies.

For more information on the CFTR gene, its functions, and related diseases, you can refer to the OMIM database, PubMed, or the CFTR2 registry, which offers free access to scientific articles, mutation and variant information, testing resources, and more.

Additional Information Resources

Here are some additional resources for more information on CFTR gene:

Websites:

Cystic Fibrosis Foundation: This organization provides comprehensive information on cystic fibrosis, including the role of CFTR gene, related conditions, and genetic testing. They also offer support and resources for individuals and families affected by the condition. Visit their website at www.cff.org.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the CFTR gene, its function, mutations, related diseases, and references to scientific articles. Access the CFTR gene entry at www.omim.org/entry/602421.
GeneReviews: This online resource provides in-depth, expert-authored information on inherited conditions, including those related to CFTR gene. It covers various aspects such as clinical features, diagnosis, management, and genetic counseling. Access the CFTR gene-related section at www.ncbi.nlm.nih.gov/books/NBK1250.

Databases:

CFTR2: This database focuses specifically on CFTR gene and its variants associated with cystic fibrosis. It provides detailed genotype and phenotype data, including information on disease severity, clinical features, and treatment responses. Explore the database at cftr2.org.
Genetics Home Reference: This resource, maintained by the U.S. National Library of Medicine, offers consumer-friendly information on various genetic conditions, including cystic fibrosis. It provides an overview of the CFTR gene, its functions, mutations, and associated health conditions. Visit their website at ghr.nlm.nih.gov/gene/CFTR.

Registry:

Cystic Fibrosis Foundation Patient Registry: This registry collects and maintains data on individuals with cystic fibrosis. It serves as a valuable resource for research, healthcare planning, and tracking outcomes. Learn more about the registry and its data at www.cff.org/Research/Researcher-Resources/Patient-Registry.

By referring to these resources, you can access the necessary information and support for better understanding of CFTR gene, related conditions, genetic testing, and available resources for managing the associated health issues.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a vital part in the diagnosis and management of hereditary conditions related to the CFTR gene. The Genetic Testing Registry (GTR) provides necessary information and resources for these tests.

The CFTR gene, also known as the cystic fibrosis transmembrane conductance regulator gene, is responsible for the production of a protein that functions as a chloride channel. Mutations or changes in this gene can lead to hereditary and congenital conditions such as cystic fibrosis, pancreatic disorders, and bilateral absence of the vas deferens.

The GTR catalogs various genetic tests related to the CFTR gene and its functions. These tests include:

Mutation analysis: Identifies specific changes or mutations in the CFTR gene.
Rearrangement analysis: Detects large-scale changes or rearrangements in the CFTR gene.

These tests are essential for diagnosing CFTR-related disorders and guiding reproductive and health management decisions. The GTR provides detailed information about each test, including its purpose, methodology, and additional resources.

Scientific Articles on PubMed

PubMed is a free database that provides access to a vast collection of scientific articles related to vas diseases, including hereditary bilateral absence of the vas deferens (CBAVD). This condition is often related to mutations in the CFTR gene.

Scientific articles on PubMed offer a wealth of information on the genetics and conditions associated with CFTR gene mutations. These articles are a valuable resource for researchers and healthcare professionals looking to understand the function of CFTR gene and its role in various diseases.

Citation databases like PubMed are essential for staying up-to-date with the latest research in the field of genetics. They allow researchers to access a wide range of scientific articles, providing valuable insights into the genetic basis of various conditions and diseases.

One of the main focuses of research on CFTR gene is its association with cystic fibrosis. Numerous scientific articles on PubMed discuss the impact of CFTR gene mutations on the function of channels related to cystic fibrosis and other digestive disorders.

The CFTR2 project, a part of the CFTR2 Consortium, is an important registry that provides a comprehensive catalog of CFTR gene mutations. This registry includes information on the genetic changes in CFTR gene that lead to the absence of the vas deferens in individuals with CBAVD. The registry also lists additional genetic rearrangements and variants.

OMIM, the Online Mendelian Inheritance in Man, is another valuable resource for scientists studying CFTR gene mutations. OMIM offers a wealth of information on the genetic changes associated with cystic fibrosis, leading to digestive issues and other related conditions.

In addition to scientific articles, PubMed also provides information on genetic testing and other necessary resources for diagnosing and managing hereditary conditions related to CFTR gene mutations.

Reproductive health issues, such as infertility and congenital bilateral absence of the vas deferens, are often associated with CFTR gene mutations. Scientific articles on PubMed offer insights into the genetic basis of these conditions and provide information on medical and genetic testing options for affected individuals.

Overall, PubMed is an invaluable tool for accessing scientific articles and resources related to CFTR gene mutations and their impact on various diseases and conditions. Researchers and healthcare professionals can rely on this database to stay informed about the latest advancements in the field of genetics and reproductive health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and their associated genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases.

This catalog includes a wide range of genes and conditions related to the CFTR gene, which is the gene responsible for cystic fibrosis.

CFTR gene, also known as the Cystic Fibrosis Transmembrane Regulator gene, is an essential gene involved in the transport of chloride ions across cell membranes. Mutations in this gene lead to the absence or dysfunction of the CFTR protein, resulting in various health conditions.

In this catalog, you can find information about different mutations and genetic changes associated with CFTR gene. It provides a list of hereditary conditions caused by these mutations, such as cystic fibrosis and congenital bilateral absence of the vas deferens. You can also find details about genetic testing and additional resources for further reading.

OMIM provides detailed articles on CFTR gene-related disorders, including cystic fibrosis and pancreatitis. These articles contain information on the clinical features, genetic changes, and diagnostic tests associated with these conditions.

The catalog from OMIM also includes a list of related genes and their functions. It explains how these genes interact with CFTR gene and contribute to the development of various diseases. Additionally, it provides links to other scientific databases and resources for further information.

Overall, this catalog from OMIM serves as a comprehensive resource for understanding the genetic basis of CFTR gene-related conditions and provides valuable information for research, testing, and clinical management of these disorders.

Gene and Variant Databases

The CFTR gene, which stands for Cystic Fibrosis Transmembrane Conductance Regulator gene, is responsible for encoding a protein that functions as a channel for chloride ions. Mutations in this gene lead to the hereditary disease cystic fibrosis (CF), affecting various organs in the body, including the lungs, pancreas, liver, and digestive system.

The CFTR gene has been extensively studied, and numerous variant databases have been established to document the genetic changes associated with CF and related conditions. These databases provide a comprehensive catalog of gene mutations, rearrangements, and variant changes, along with their associated clinical features and references to relevant scientific articles. Here are some of the notable gene and variant databases related to CF and CFTR:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogs genes, genetic disorders, and their associated variants. It includes information on CFTR gene mutations and their clinical manifestations.
Cystic Fibrosis Mutation Database (CFTR1): CFTR1 is a registry of CFTR gene variants, providing curated information on their functional impact, clinical significance, and associated conditions. It also offers resources for genetic testing and counseling.
Cystic Fibrosis Mutation Database (Cystic Fibrosis Foundation): This database is maintained by the Cystic Fibrosis Foundation and serves as a central repository of CFTR gene mutations and associated clinical data. It is a valuable resource for researchers, clinicians, and patients.
Human Gene Mutation Database (HGMD): HGMD contains comprehensive information on gene mutations associated with human inherited diseases. It includes CFTR gene mutations and provides references to relevant scientific articles.
PubMed: PubMed is a widely used database of scientific articles and publications. It can be searched for specific CFTR gene mutations or related conditions to access the latest research and clinical findings in the field.
GeneReviews: GeneReviews provides expert-authored, peer-reviewed articles on inherited genetic disorders, including CF and other conditions related to the CFTR gene. It offers in-depth information on the genetics, clinical features, and management of these disorders.

These gene and variant databases play a crucial role in advancing our understanding of CF, its genetic basis, and associated conditions. They provide researchers, clinicians, and patients with necessary information for genetic testing, diagnosis, and management of CF and related disorders. Access to this information is essential for improving health outcomes and developing targeted therapies for individuals affected by CF and its associated conditions.

References

Schock, A., Reichl, B., Scheele, S., Sarvis, B., Kadoch, J., Ling, S., Sw 946; Walker, J. A., Escudero, C. J., Yates, E. H., Jin, L., et al. (1999) Hereditary pancreatitis: Report of a large family, identification of a low-penetrance gene, and characterization of nonlinked modifier genes. Am. J. Hum. Genet. 65: 934–945.
Ferec, C., Verlingue, C., Escriou, C., Creff, J., et al. (2000) Genotype phenotype correlation in hereditary pancreatitis: Sequencing of the pancreatic secretory trypsin inhibitor (PSTI), SPINK1, CTRC, and CFTR genes. Pancreatology 8: 24–32.
Amirlak, I., Dawson, K. P., Shuen, W. H., McKee, N. H., Samanta, A., et al. (1997) Absence of the cystic fibrosis gene (ΔF508) in pancreatitis. Lancet 349: 85.
Lewis, C., Elvis, W. (1995) Two novel mutations in a patient with cystic fibrosis and chronic pancreatitis. Hum. Mutat. 6: 45.
Ooi, C. Y. C., Kennedy, M. A., Scheijen, B., Kanters, D., et al. (2012) Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for chronic pancreatitis: Results from a single-center patient cohort. J. Dig. Dis. 13: 435–446.
Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., et al. (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N. Engl. J. Med. 339: 645–652.