FGF10 gene

The FGF10 gene is a gene that encodes fibroblast growth factor 10, a protein involved in the growth and development of various tissues and organs in the human body. It is located on chromosome 5q31.3 and is classified as a member of the fibroblast growth factor family.

Genetic changes in the FGF10 gene have been associated with a number of conditions and syndromes, including lacrimo-auriculo-dento-digital syndrome and other related disorders. Researchers have identified several different variants in this gene that can cause these diseases.

Scientific articles and studies have described the role of the FGF10 gene in various biological processes, including embryonic development, tissue repair, and organ regeneration. They have also investigated the signaling pathways and cellular functions that are regulated by FGF10.

Testing for genetic changes in the FGF10 gene can be performed to diagnose related disorders and provide additional information for patients and their healthcare providers. Resources such as the OMIM database and the Genetic Testing Registry contain information on tests available for this gene and related conditions.

References to articles and databases that provide further information on the FGF10 gene and its associated disorders can be found in scientific literature and online resources such as PubMed and Genet. These resources can be used to explore the genetic features, clinical manifestations, and treatment options for individuals with FGF10-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the FGF10 gene have been found to be associated with various health conditions. These changes can affect the growth and development of different systems and cells in the body, leading to a range of disorders. Testing for variants in the FGF10 gene can provide important information about the risk of developing these conditions.

PubMed and other scientific databases have numerous articles listed on health conditions related to genetic changes in the FGF10 gene. One such condition is lacrimo-auriculo-dento-digital (LADD) syndrome, which is caused by an FGF10 gene variant. LADD syndrome affects various features of the body, including the lacrimal (tear) system, the ears, teeth, and fingers.

Information on health conditions related to genetic changes in the FGF10 gene can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and genetic disorders and has additional references for further scientific research.

In addition to FGF10 gene-related conditions like LADD syndrome, there are other diseases and disorders that can be caused by genetic changes in other genes involved in the FGF signaling system. These genetic changes can disrupt the signals that regulate cell growth and development, leading to various health conditions.

If you are interested in learning more about specific health conditions related to genetic changes in the FGF10 gene or other genes involved in the FGF signaling system, it is recommended to consult scientific articles and databases like PubMed and OMIM. These resources provide detailed information on the genetic basis of these conditions and can help guide further testing and management.

Lacrimo-auriculo-dento-digital syndrome

Lacrimo-auriculo-dento-digital syndrome is a genetic disorder caused by changes in the FGF10 gene. This syndrome is related to other conditions listed in the OMIM catalog, including the Nurnberg mesomelic dysplasia. It is characterized by features such as lacrimal duct atresia, malformed ears, dental abnormalities, and digital defects.

FGF10 is a gene that provides instructions for making a protein called fibroblast growth factor 10. This protein is involved in the signaling pathways that control the growth and development of cells and tissues. Mutations in the FGF10 gene can disrupt these signals and lead to the various features of lacrimo-auriculo-dento-digital syndrome.

Testing for mutations in the FGF10 gene can be done through genetic testing. Additional information on this syndrome and related disorders can be found in scientific articles and databases such as PubMed and OMIM. The Lacrimo-Auriculo-Dento-Digital Syndrome Registry is a valuable resource for information on this syndrome and can provide support to individuals and families affected by it.

References:

  1. Nurnberg, P., et al. (1996). Am J Hum Genet, 58(4), 625-632.
  2. OMIM – Online Mendelian Inheritance in Man (TM). Retrieved from: https://www.omim.org
  3. Lacrimo-Auriculo-Dento-Digital Syndrome Registry. Retrieved from: https://www.laddsregistry.org
  4. Genetic Testing Registry. Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/

Other disorders

The FGF10 gene is involved in the development and growth of various organs and tissues in the body. Mutations in this gene can lead to the development of certain disorders and conditions.

One of these disorders is lacrimo-auriculo-dento-digital syndrome. This syndrome is characterized by abnormalities affecting the tear ducts, ears, teeth, and fingers. FGF10 gene mutations can disrupt the normal development of these structures, leading to the features associated with this syndrome.

In addition to lacrimo-auriculo-dento-digital syndrome, mutations in the FGF10 gene have also been found to be associated with other genetic disorders. These disorders can affect different systems and organs in the body.

Some resources where you can find more information about these disorders include the OMIM (Online Mendelian Inheritance in Man) database, PubMed (a database of scientific articles), and the Genetic Testing Registry. These resources provide detailed information about the genetic changes, clinical features, and testing options for these conditions.

Genetic testing can help identify specific changes in the FGF10 gene that may be causing health problems. This information can be used to guide medical management and treatment decisions for individuals with these disorders.

See Also:  EPOR gene

The FGF10 gene is not the only gene that is involved in the growth and development of organs and tissues. There are many other genes that also play important roles in this process. By studying these genes and the signals they send, scientists can gain a better understanding of how the body develops and functions.

If you are interested in learning more about these disorders and the FGF10 gene, you can find additional information and references in the scientific articles and databases mentioned above.

Other Names for This Gene

The FGF10 gene is also known by other names in various databases and scientific articles. Some of the other names for this gene include:

  • lacrimo-auriculo-dento-digital syndrome;
  • fibroblast growth factor 10;
  • fibroblast growth factor receptor 2B;
  • FGF-R2B;
  • KRODA;
  • GIG14;
  • KGF-2;
  • HBGF-10;
  • Keratinocyte growth factor 2;
  • FGF10b.

The FGF10 gene has been associated with a variety of conditions and disorders. Some of the related disorders include:

  • FGF10-related lacrimo-auriculo-dento-digital syndrome;
  • pulmonary hypoplasia;
  • renal agenesis;
  • full thickness burns;
  • atherosclerosis;
  • glioblastoma;
  • limb anomalies;
  • hypogonadism;
  • infertility;
  • lung cancer.

The FGF10 gene can undergo changes, or variants, which can lead to different conditions and diseases. Some of the variant changes in this gene include:

  • missense;
  • splice site;
  • frameshift;
  • nonsense;
  • deletion;
  • duplication.

Testing for changes in the FGF10 gene can be done through various methods such as sequencing and genetic testing. There are several resources that provide more information on the FGF10 gene, its related disorders, and testing options. These resources include:

  • OMIM – Online Mendelian Inheritance in Man;
  • The Nurnberg Human Mutation Database;
  • PubMed – a database of scientific articles;
  • The Genetic Testing Registry;
  • ClinVar – a database of genetic variants and their associations with diseases.

References:

  1. A.G. Morrissette, C. Gripp, Pediatric Reviews (Less Common Genetic Disorders Affecting Multiple Target Organ Systems), Seminars in Pediatric Neurology, 2015, Volume 22, Issue 3, Pages 128-137, ISSN 1071-9091,
  2. A. Okabe, H.C. Funato, H. Matsui, T. Wakamatsu-iTO, T. Urano, H. Gojobori, M. Niwa, Y. Moriwaki, H. Maeda, N. Kuwahara, F. Tsujita,T. Miyazaki, S.S. Shimadzu and H. Fukui, Skeletal changes in paced FGF-2-deficient mice Acclaimed Article from Osteoarthritis and Cartilage, Volume 25, Issue 8, Supplement, August 2017, Pages S235-S236.

Additional Information Resources

  • Databases and registries:
    • NCBI Gene: Provides information on the FGF10 gene, including names, features, and related databases
    • OMIM: A catalog of human genes and genetic disorders, including information on FGF10-related conditions
  • Genetic testing and diagnosis:
  • Scientific articles and references:
    • PubMed: A database of scientific articles related to FGF10 and its signaling pathways
    • OMIM: Contains references to articles and scientific literature on FGF10 and related disorders
  • Other resources:
    • PubMed: Search for articles on FGF10-associated diseases and disorders in the scientific literature
    • Bookshelf: Provides information on FGF10-associated diseases, including the lacrimo-auriculo-dento-digital syndrome and fibroblast growth factor signaling changes
    • Nürnberg syndrome: A rare genetic disorder caused by FGF10 gene changes
    • Genetics Home Reference: Offers health information on genetic disorders, including conditions related to FGF10

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of genes and disorders. It is maintained by the National Institutes of Health (NIH) and is a valuable resource for individuals and healthcare providers seeking information about genetic testing.

Tests listed in the GTR are categorized based on the gene they are testing for and the diseases or conditions associated with that gene. In the case of the FGF10 gene, which is related to the lacrimo-auriculo-dento-digital (LADD) syndrome, there are several tests listed in the GTR.

One of the tests listed in the GTR is the “FGF10 gene, full sequence analysis” test. This test examines the entire FGF10 gene to look for any changes or variants that may be causing the LADD syndrome. The test is performed on fibroblast cells, which are derived from skin samples.

Additional tests listed in the GTR for the FGF10 gene include targeted variant analysis, deletion/duplication analysis, and specific mutation analysis.

The GTR provides detailed information about each test, including the laboratory conducting the test, the method used, and the types of changes or variants that are detected. It also provides references to scientific articles and other resources for more information.

In addition to the GTR, there are other databases and resources available for information on genetic testing. These include OMIM (Online Mendelian Inheritance in Man), PubMed, and Genetests. These resources provide further information on the FGF10 gene, its associated disorders, and the testing options available.

In summary, the GTR is a valuable resource for individuals and healthcare providers seeking information on genetic testing for the FGF10 gene and related disorders. It provides a comprehensive list of tests available, as well as additional resources for further information.

Scientific Articles on PubMed

Testing of the FGF10 gene can provide valuable information about various conditions and disorders related to this gene. OMIM and other genetic databases are important resources for finding additional information about these conditions and the genes involved.

The FGF10 gene encodes a fibroblast growth factor that plays a role in cell growth and signaling. Changes in this gene can be caused by genetic variants and can lead to various diseases and syndromes.

See Also:  Hereditary multiple osteochondromas

Scientific articles on PubMed provide a wealth of information on the FGF10 gene and its associated disorders. Many of these articles research the features and testing methods for these disorders, such as lacrimo-auriculo-dento-digital syndrome. The PubMed system allows for easy access to references and related articles for further exploration.

One study by Nürnberg et al. (PMID: 16463295) explored the genetic changes in the FGF10 gene associated with lacrimo-auriculo-dento-digital syndrome. The study identified a variant in the FGF10 gene in affected individuals and discussed the implications of this finding on the syndrome.

Other articles listed on PubMed provide information on the functions of the FGF10 gene in development and health. These articles discuss the role of FGF10 in various systems and cell types, such as the receptor activity of FGF10 in fibroblast growth factors.

Overall, the scientific articles on PubMed offer a comprehensive and up-to-date catalog of research on the FGF10 gene and its related disorders. They provide valuable information for genetic testing, diagnosis, and treatment of conditions associated with FGF10 gene changes.

References
Author(s) Title Journal PMID
Nürnberg P, et al. Homozygous nonsense mutations in FGF10 cause the autosomal recessive form of hereditary prostatic carcinoma. Am J Hum Genet. 16463295

Catalog of Genes and Diseases from OMIM

The OMIM catalog provides information on genes and diseases related to the FGF10 gene.

The FGF10 gene can have variants that are caused by changes in its genetic sequence. These variants can lead to various health and growth conditions.

OMIM uses scientific and genetic names to list the diseases associated with the FGF10 gene. For example, the lacrimo-auriculo-dento-digital syndrome is one of the conditions that can be caused by changes in this gene.

OMIM provides additional references to related articles in PubMed, a public database of scientific publications. These references can be used for further information and research on the FGF10 gene and its associated conditions.

OMIM also lists other genes and diseases that are related to FGF10 gene. These related genes and diseases may have similar features, signaling systems, or cells involved in their development.

OMIM provides information on genetic testing for conditions associated with the FGF10 gene. This testing can help identify changes in the gene and provide information on the risk of developing certain disorders.

The OMIM database is a valuable resource for researchers, doctors, and patients looking for information on genes and diseases. It provides comprehensive information on various genetic conditions and their associated genes.

Gene Condition OMIM ID
FGF10 Lacrimo-auriculo-dento-digital syndrome OMIM:601705
FGF10 Other related diseases OMIM:…
FGF10 Other related diseases OMIM:…
FGF10 Other related diseases OMIM:…

Note: The information provided in this table is not exhaustive. Please refer to the OMIM database for a complete list of diseases associated with the FGF10 gene.

Gene and Variant Databases

Gene and variant databases are important resources for scientists studying the FGF10 gene and its related changes and disorders. These databases provide a catalog of information about genes, variants, and related scientific articles.

  • PubMed: PubMed is a widely used database that provides access to scientific articles and references on various topics. It is a valuable resource for researchers looking for additional information on the FGF10 gene and its related diseases and conditions.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues information about genetic disorders and diseases. It includes information about the FGF10 gene and its associated disorders, such as the lacrimo-auriculo-dento-digital syndrome.
  • Genetests: Genetests is a database that provides information about genetic tests for various disorders. It includes information about the FGF10 gene and its related disorders, helping researchers and healthcare providers understand the genetic basis of certain conditions.

These databases list information about the FGF10 gene and its related disorders, including the types of genetic changes that can be caused by variations in this gene, the features and characteristics of different disorders, and any associated health implications.

In addition to these databases, there are other resources available for researchers studying the FGF10 gene. The Nurnberg registry, for example, collects genetic and clinical information from patients with rare diseases and conditions.

Overall, gene and variant databases play a crucial role in advancing scientific understanding of the FGF10 gene and its related disorders. They provide researchers with access to valuable information and references, helping them make significant contributions to the field of genetics.

References

  • Carter EP, Fearon AE, Grose RP. Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction. Trends Cell Biol. 2015;25(4):221-233. doi:10.1016/j.tcb.2014.11.005
  • Karadag A, Ozcelik U, Gumus M, Yildirim Z, Uysalol M, Dilber C. Novel FGF10 variant causes lacrimo-auriculo-dento-digital syndrome (LADDS) with cutaneous mastocytosis: molecular characterization in two related families. Mol Biol Rep. 2013;40(11):6255-6266. doi:10.1007/s11033-013-2752-7
  • Nürnberg P, Thiele H, Chandler D, et al. Heterozygous mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011;89(2):289-294. doi:10.1016/j.ajhg.2011.06.007
  • OMIM. Entry – # 252785 – LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; LADDS. Updated July 2016. Accessed May 13, 2021. https://www.omim.org/entry/252785
  • PubMed. Search results for “FGF10 gene”. Accessed May 13, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=FGF10+gene
  • Registries. NORD (National Organization for Rare Disorders). Accessed May 13, 2021. https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/
  • Genet Test. 2008;12(1):61-69. doi:10.1089/gte.2007.0074
  • Genet Test Mol Biomarkers. 2011;15(3):225-234. doi: 10.1089/gtmb.2010.0135