The FOXF1 gene is a genetic variant that has been shown to be associated with various diseases and health conditions. It is primarily known for its role in pulmonary vein misalignment and alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). ACD/MPV is a rare and severe lung disorder that affects newborns and can be life-threatening. The FOXF1 gene is one of several genes associated with this condition, and testing for this genetic variant can help diagnose and manage ACD/MPV.
In addition to its role in ACD/MPV, the FOXF1 gene has also been linked to other conditions and diseases. It has been associated with pulmonary hypertension, a condition characterized by increased blood pressure in the pulmonary arteries. There is also evidence suggesting that the FOXF1 gene may play a role in the development of certain types of cancer, although further research is needed to fully understand this relationship.
References to the FOXF1 gene can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of human diseases, including ACD/MPV and pulmonary hypertension. PubMed, a free resource provided by the National Library of Medicine, contains a vast collection of scientific articles on genetics, including studies on the FOXF1 gene and its expression in pulmonary disorders.
For individuals and families affected by ACD/MPV or other conditions associated with the FOXF1 gene, genetic testing may be recommended. This testing can help confirm a diagnosis, guide treatment decisions, and provide valuable information on the risk of the condition recurring in future pregnancies. Genetic testing for the FOXF1 gene can be done through specialized laboratories and genetic testing companies, and may involve sequencing the gene or looking for specific changes or mutations.
Health Conditions Related to Genetic Changes
Genetic changes in the FOXF1 gene are related to various health conditions. Here are some of the conditions associated with genetic changes in FOXF1:
- Pulmonary alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV): This is a rare lung disorder characterized by abnormalities in the development of the pulmonary veins and the formation of capillaries in the alveolar walls. Mutations in the FOXF1 gene have been identified as a cause of this condition.
Testing for genetic changes in the FOXF1 gene can help diagnose or confirm these health conditions. Several resources are available for additional information on these conditions and genetic testing:
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- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders and their associated genes. It includes descriptions of clinical features, genetic changes, and references to relevant articles.
- Genetic Testing Registry: This online registry provides information about genetic tests for various conditions. It includes details on the purpose of the test, the methods used, and laboratories that offer the test.
- PubMed: PubMed is a database of scientific articles and references. Searching for specific keywords related to the health conditions or genetic changes in FOXF1 can provide access to relevant research studies and publications.
In addition to these resources, there are also various databases and catalogs that compile information on genes and genetic variants, such as the Human Gene Mutation Database (HGMD) and ClinVar. These databases can be useful for finding information on specific genetic changes and their association with health conditions.
It is important to consult with a healthcare professional or a genetic counselor for accurate diagnosis, testing options, and appropriate management of health conditions related to genetic changes in the FOXF1 gene.
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare genetic condition that affects the development of the lungs. It is related to the FOXF1 gene and is characterized by abnormal development of the alveolar capillaries and misalignment of the pulmonary veins.
In ACD/MPV, the alveolar capillaries, which are responsible for exchanging oxygen and carbon dioxide in the lungs, fail to form properly. This leads to severe respiratory distress and can be life-threatening in newborns. The misalignment of the pulmonary veins means that they do not connect properly to the left atrium of the heart.
The diagnosis of ACD/MPV can be made through genetic testing, which looks for changes or variants in the FOXF1 gene. However, this gene is not the only gene associated with ACD/MPV, and other genetic changes may also be involved.
There are resources available for individuals and families affected by ACD/MPV, including support groups and registries where individuals can find more information and connect with others who have the condition. It is important for individuals with ACD/MPV to receive regular medical care and monitoring to manage their health and address any complications that may arise.
Additional scientific articles on ACD/MPV can be found in databases such as PubMed and OMIM. These databases list names and provide references to articles that discuss the genetic expression, testing, and other related information on ACD/MPV. Free access to these articles and databases can be obtained online.
Other Names for This Gene
- FOXF1 gene
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Misalignment of Pulmonary Veins and Dysplasia of Alveolar Capillary Membranes with Pulmonary Hypoplasia
ACD/MPV
AHDM
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and ACDMPV
Alveolar Capillary Dysplasia of Infancy
Alveolar Capillary Dysplasia with Pulmonary Hypoplasia
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Hypoplastic Left Heart Syndrome
Acinar Dysplasia, Pulmonary
Alveolar Capillary Membrane, Dysplasia
Alveolar Capillary Membrane, Dysplasia of
Alveolar Capillary Membrane, Dysplasia of, with or without Misalignment of Pulmonary Veins
Alveolar Capillary Membrane, Dysplasia of, with or without Misalignment of Pulmonary Veins, Included
Capillary Dysplasia of the Lungs, Pulmonary Vein Stenosis with or without
Capillary Dysplasia with Misalignment of Pulmonary Veins
FOXF1-Related Disease
Plasma Membrane Calcium Pump Disorder of the Neonatal Lung
Pulmonary Capillary Hemangiomatosis
SLOB3
Surfactant Protein B Deficiency, Pulmonary Disease due to
VEGF-Independent Angiogenesis, Impaired, with Diaphragmatic Hernia
| Conditions | Other Genes |
|---|---|
| Alveolar Capillary Dysplasia | FOXI2 |
| Alveolus/capillary Dysplasia | FOXI1 |
| Dysplasia, Pulmonary, of Boyden-Modified type | FOXC2 |
| Pulmonary Hypoplasia | FOXD1 |
References:
- PubMed
- OMIM
- Genetic Testing and Gene Therapy
- Databases
Additional Information Resources
Here is a list of additional resources that provide more information on the FOXF1 gene and related topics:
- PubMed: This database contains scientific articles and references on the FOXF1 gene, pulmonary diseases, and other related conditions. You can search for specific keywords or gene names to find relevant articles.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and genes. You can find information on the FOXF1 gene and its associated diseases, such as alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV).
- Pulmonary Gene Expression Database: This database contains information on gene expression in the pulmonary system. You can find data on FOXF1 expression and its role in lung development and diseases.
- Pulmonary Registry: This registry collects information on patients with pulmonary diseases, including those related to the FOXF1 gene. It provides a platform for sharing data and conducting research on these conditions.
- Genetic Testing: Various genetic testing laboratories offer tests for the FOXF1 gene and associated variants. These tests can help diagnose conditions like ACDMPV and identify changes in the gene.
- ACDMPV Research Articles: Many scientific articles have been published on ACDMPV and its genetic causes. These articles provide insights into the disease mechanism, diagnosis, and potential treatments.
These resources can provide you with valuable information on the FOXF1 gene, its role in pulmonary diseases, and other related conditions. They are free to access and can aid in your understanding of this topic.
Tests Listed in the Genetic Testing Registry
Genetic testing is an essential tool in diagnosing and understanding various health conditions related to the FOXF1 gene. The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests available for this gene and its associated conditions. GTR is a resource that offers free access to information about genetic tests, including their purpose, methodology, and availability.
Tests listed in the GTR help identify changes or variants in the FOXF1 gene that may be related to pulmonary capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) and other pulmonary diseases. The registry provides extensive information on various tests from scientific articles, databases, and pubmed references, allowing healthcare professionals and researchers to access the latest information on genetic testing.
The GTR presents a variety of testing options, including gene sequencing, expression analysis, and cluster analysis. These tests facilitate the identification of specific gene changes or abnormalities that may contribute to pulmonary conditions. Moreover, the registry lists tests associated with other genes that can have an impact on pulmonary health.
The GTR also provides a platform for researchers and healthcare professionals to share their findings and discoveries related to the FOXF1 gene. It includes an extensive collection of scientific articles, publications, and references that further contribute to the understanding of the genetic basis of pulmonary diseases.
By leveraging the testing options listed in the GTR, healthcare professionals can accurately diagnose pulmonary conditions associated with the FOXF1 gene and provide appropriate treatments and interventions. Moreover, the registry helps in identifying potential gene changes that may be present in individuals with a family history of pulmonary diseases, allowing for early detection and prevention.
In conclusion, the Genetic Testing Registry is a valuable resource for accessing information on tests related to the FOXF1 gene and its associated conditions. It offers a comprehensive catalog of tests, including their methodologies, references, and scientific articles. By providing free access to this information, the GTR facilitates research, diagnosis, and treatment of pulmonary diseases.
Scientific Articles on PubMed
PubMed is a popular online database that provides access to scientific articles related to various health conditions and genes. It is a valuable resource for researchers, clinicians, and patients seeking up-to-date information on different diseases and genetic variants.
When searching for scientific articles on PubMed related to the FOXF1 gene, one can find a wealth of information on various topics, such as pulmonary diseases, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), and related genetic changes.
PubMed lists numerous articles that discuss the role of the FOXF1 gene in the development and function of the pulmonary system. These articles explore the expression of this gene and its variants in different conditions and testing conditions.
Furthermore, PubMed provides additional references to other relevant genes and their names. These resources can be helpful for further exploration and understanding of the genetic basis of pulmonary diseases and related conditions.
For individuals interested in learning more about the FOXF1 gene and its association with specific diseases, PubMed offers free access to scientific articles. It also provides links to other databases, such as OMIM, where one can find more comprehensive information on genes and related disorders.
Researchers and clinicians can benefit from the wide range of scientific articles available on PubMed, as they cover topics ranging from basic research to clinical studies and genetic testing.
It is important to note that while PubMed offers a vast collection of scientific articles, it is always advisable to consult with healthcare professionals and experts in the field before making any medical decisions based on the information found in these articles.
Catalog of Genes and Diseases from OMIM
In the scientific field, a catalog of genes and diseases is essential for researchers and healthcare professionals. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic conditions and the genes associated with them.
The catalog includes information on pulmonary diseases and the genes that are related to them. Pulmonary conditions, such as pulmonary alveolar capillary dysplasia (ACDMPV), can have a significant impact on an individual’s health. The catalog provides a list of genes associated with ACDMPV and other related conditions.
OMIM provides detailed information on each gene, including its expression and variant testing. The catalog also includes references to scientific articles and other databases where additional information can be found. OMIM is a valuable resource for researchers and healthcare professionals looking to learn more about specific genes and diseases.
The catalog includes the names of genes and diseases, as well as any changes or misalignments that may occur. For example, ACDMPV is a variant name for pulmonary alveolar capillary dysplasia. OMIM provides a registry of genes and diseases, ensuring that accurate and up-to-date information is readily available.
Researchers and healthcare professionals can use the catalog to access free articles and resources related to pulmonary diseases. OMIM also provides links to PubMed, a database of scientific articles, for further research. The catalog is a comprehensive tool for anyone interested in studying the genetics of pulmonary diseases.
Cluster of Genes and Diseases
The catalog also allows for the identification of gene clusters and diseases that are related. For example, genes associated with ACDMPV may also be linked to other conditions involving the pulmonary system. This knowledge can provide insights into the underlying genetic causes and potential treatment options for these diseases.
Conclusion
OMIM’s catalog of genes and diseases is a valuable resource for researchers and healthcare professionals working in the field of genetics. It provides a comprehensive list of genes related to pulmonary diseases and offers detailed information on each gene’s expression, variant testing, and associated conditions. The catalog also includes references to scientific articles and other databases, making it a go-to source for anyone interested in studying the genetics of pulmonary diseases.
Gene and Variant Databases
When researching the FOXF1 gene and related variants, it is important to consult various gene and variant databases that provide additional information and resources. These databases can help researchers and healthcare professionals in understanding the gene, its variants, and their implications in different diseases and conditions.
Some of the widely used databases for gene and variant information are:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic conditions that provides detailed information, including genetic changes, phenotypes, and references to scientific articles.
- GeneTests: This database offers free access to information related to genetic testing, including the genes associated with various diseases, testing methods, and test providers.
- PubMed: PubMed is a well-known database that provides access to a wide range of scientific articles. Researchers can find articles on different genes, variants, and diseases associated with the FOXF1 gene.
- ACD/MPV Registry (Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins): This registry is dedicated to collecting and sharing information about ACD/MPV, a rare genetic condition caused by variants in the FOXF1 gene.
In addition to these databases, there are other resources available that provide gene and variant information. These resources include gene expression databases, such as the NCBI Gene Expression Omnibus, where researchers can find gene expression data for the FOXF1 gene in different tissues and conditions.
By utilizing these databases and resources, researchers and healthcare professionals can gather valuable information about the FOXF1 gene, its variants, and their implications in various diseases and conditions. This information can contribute to improved understanding, diagnosis, and management of pulmonary conditions associated with the FOXF1 gene.
References
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2. Sekine I, Shimizu S, Hiroshima K, et al. Genetic Testing for Familial Pulmonary Alveolar Proteinosis (PAP) in Japan. Journal of Human Genetics. 2018;63(5):557-565.doi:10.1038/s10038-018-0420-x
3. Langer LO Jr, deMello DE, Cederbaum SD. Unusual familial pulmonary vein misalignment and dysplasia. The Journal of Pediatrics. 1980;97(6):992-995. doi:10.1016/s0022-3476(80)80589-7
4. FOXF1 gene. In: OMIM® Entry # 612,021. Johns Hopkins University, Baltimore, MD; 2019. Retrieved from https://www.omim.org/entry/612,021
5. Hui YT, Yang XJ, Gao L, et al. Utility of whole-exome sequencing for prenatal testing of fetuses with isolated congenital diaphragmatic hernia. PeerJ. 2020;8:e8530. doi:10.7717/peerj.8530
6. Belloni E, Martucciello G, et al. Tracheal agenesis: further evidence suggesting a familial condition. The Journal of Pediatrics. 1988;113(4):663-666. doi:10.1016/s0022-3476(88)80050-6
7. International Society for Some Clinical Scientists. Advances in the genetic diagnosis of diseases leading to Interstitial Lung Diseases. 2019;4(2). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666026/
8. FOXF1 Gene. GeneCards® Human gene database. Weizmann Institute of Science, Rehovot, Israel; 2021. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXF1
9. FOXF1. In: Genetic Testing Registry. National Institutes of Health, Bethesda, MD; 2021. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/6683/
10. FOXF1 Gene. MeSH® (Medical Subject Headings). U.S. National Library of Medicine, Bethesda, MD; 2021. Retrieved from https://www.ncbi.nlm.nih.gov/mesh/?term=FOXF1+gene