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The FREM1 gene is one of several genes involved in the development of the urinary tract, eyes, and nose. It is listed in online databases and scientific articles as a gene associated with various conditions and diseases. Mutations in the FREM1 gene can cause congenital anomalies such as coloboma, oculotrichoanal syndrome, and kidney and urinary tract disorders.

The FREM1 gene provides instructions for making proteins that are essential for the proper formation and function of these structures. Changes in the gene’s DNA sequence, known as genetic mutations, can disrupt the production or activity of these proteins. As a result, individuals with mutations in the FREM1 gene may experience a range of physical and health problems.

Testing for mutations in the FREM1 gene can be performed to assist in the diagnosis of related conditions. This testing is typically done in specialized laboratories or genetic testing centers and may involve various tests, such as DNA sequencing or genetic variant analysis. Additional information about testing and genetic counseling can be obtained from healthcare professionals or genetic testing resources and databases like OMIM, PubMed, and Genetests.

The FREM1 gene is an important gene in the development of several structures in the body. Understanding its role and the associated conditions can help in the diagnosis and management of individuals with these specific anomalies. It is essential to stay updated with the latest scientific research and references regarding this gene and related disorders, as new information and discoveries continue to emerge.

Genetic changes in the FREM1 gene have been associated with a variety of health conditions. These changes can affect the structure or function of proteins produced from the gene, leading to symptoms and medical problems.

The Online Mendelian Inheritance in Man (OMIM) database and other scientific resources have cataloged several conditions related to FREM1 gene mutations:

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  • FREM1-related oculotrichoanal syndrome: This syndrome is characterized by congenital anomalies such as coloboma (a gap in a structure of the eye), anomalies of the nasal tract, and defects in the urinary and gastrointestinal tracts.
  • FREM1-related renal defects: Variants in the FREM1 gene have been associated with kidney anomalies, including cystic kidneys and renal dysplasia.
  • FREM1-related syndromic coloboma: This condition involves eye abnormalities, including coloboma, that occur along with other health issues.

Genetic testing and analysis of DNA samples can help identify mutations in the FREM1 gene and provide information about the specific changes and their potential effects on health. Testing for FREM1 gene mutations may be available through specialized laboratories or genetic testing companies. These tests can be ordered by healthcare providers or can be pursued by individuals interested in learning more about their genetic makeup.

Additional information and resources on genetic testing, health conditions related to the FREM1 gene, and support for individuals with these conditions can be found through organizations such as the Genetic and Rare Diseases (GARD) Information Center and related patient support groups.

Manitoba oculotrichoanal syndrome

Manitoba oculotrichoanal syndrome is a rare genetic disorder caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making proteins that are essential for the development of various tissues and organs in the body.

This syndrome is characterized by a range of abnormalities including oculotrichoanal (eye, hair, and anal) anomalies and congenital anomalies of the kidney and urinary tract. The most common features of this syndrome include coloboma (a defect in the structure of the eye), hair anomalies, and anal anomalies.

Diagnosis of Manitoba oculotrichoanal syndrome can be made through genetic testing. Testing for mutations in the FREM1 gene can confirm the diagnosis. There are various genetic testing methods available, including sequencing of the gene and deletion/duplication analysis.

For more information on this syndrome, related genes, and genetic testing, the following resources can be consulted:

  • OMIM: A catalog of human genes and genetic disorders, including information on Manitoba oculotrichoanal syndrome.
  • Genetics Home Reference: A website by the National Library of Medicine that provides information on genetic conditions and related genes.
  • GeneReviews: Scientific articles on genetic disorders, including Manitoba oculotrichoanal syndrome.
  • PubMed: A database of scientific articles where additional information on this syndrome can be found.

References:

  1. Tunçbilek G, Aliefendioglu D, Uz E, et al. Congenital oculotrichoanal (OTA) syndrome: novel FREM2 and FREM1 mutations in two unrelated families with a mild phenotype. Eur J Med Genet. 2013;56(1):25-32. doi:10.1016/j.ejmg.2012.10.006
  2. Simpson MA, Irving MD, Asilmaz E, et al. Mutations in FREM1 are associated with bifid nose, renal agenesis, and anorectal malformations. Am J Hum Genet. 2011;87(5):668-674. doi:10.1016/j.ajhg.2011.10.007

Coloboma

Coloboma is a congenital anomaly that results from genetic changes in the FREM1 gene. Coloboma is characterized by a missing piece of tissue in structures such as the eye, nose, or urinary tract. It is often associated with other anomalies, such as renal and urinary tract anomalies.

See also  ACAT1 gene

The FREM1 gene provides instructions for making proteins that are involved in the development of various organs and tissues in the body. Variants in this gene can lead to abnormal protein function, which can disrupt normal development and result in the formation of coloboma.

Scientific research has identified mutations in the FREM1 gene as a common cause of coloboma. These mutations can lead to structural abnormalities in the eye, nose, and other affected structures. There are several variant forms of coloboma associated with different mutations in the FREM1 gene.

Other genes related to coloboma include FREM2 and a number of other genes that have not yet been fully characterized. Genetic testing can help identify mutations in these genes and provide a diagnosis for individuals with coloboma.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the FREM1 gene and its related disorders. The OMIM entry for coloboma includes references to scientific articles, genetic testing resources, and other databases that contain information on this condition.

The Manitoba Oculotrichoanal (OTA) Syndrome Registry is a resource that collects clinical and genetic information on individuals with coloboma and other associated anomalies. The registry aims to improve understanding of this condition and provide support for affected individuals and their families.

Genetic testing and counseling services can help individuals and families understand the underlying causes of coloboma and provide information on management and treatment options. These tests can identify specific genetic changes that may be responsible for the development of coloboma and other associated anomalies.

References:

  1. Epub 2015 Dec 9. PMID: 26647067
  2. Manitoba Clinic. Genetics Home Reference. Retrieved from: https://genetics.umanitoba.ca/ OTA
  3. Pubmed. NIH. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/26647067
  4. FREM1 gene. OMIM. Retrieved from: https://www.omim.org/entry/608944

Congenital anomalies of kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) encompass a range of conditions that affect the development and function of the kidneys and urinary tract. These conditions can lead to abnormalities in the structure and function of the kidneys, and can be present at birth or develop later in life. CAKUT can be caused by a variety of genetic and environmental factors, and can result in a range of symptoms and complications.

The FREM1 gene is one of several genes that have been associated with CAKUT. Mutations in the FREM1 gene have been identified in individuals with a variant form of CAKUT called oculotrichoanal syndrome (OTA), also known as Manitoba oculotrichoanal (MOTA) syndrome. OTA is characterized by the presence of coloboma (a hole or gap in one of the structures of the eye), changes in the structure of the nose, and anomalies in the formation of the urinary tract.

Information on the FREM1 gene and its role in CAKUT can be found in various scientific resources, including online databases such as PubMed and OMIM. These resources provide information on the genetic changes associated with CAKUT, as well as information on the related genes and other conditions that can result from mutations in these genes.

Testing for mutations in the FREM1 gene and other genes associated with CAKUT can be done through genetic testing services and research laboratories. These tests can help identify individuals who are at risk for developing CAKUT or who may have a genetic condition associated with the urinary tract anomalies. Genetic testing can also be used to provide information on the inheritance patterns of these conditions, which can help in genetic counseling and family planning.

In addition to genetic testing, there are also other resources available for individuals and families affected by CAKUT. The National Registry for Renal and Urological Diseases provides a database for individuals with kidney and urinary tract anomalies, and can help connect individuals with researchers and clinical trials. There are also support groups and organizations that provide information and support for individuals and families affected by CAKUT.

Overall, understanding the genetic basis of congenital anomalies of the kidney and urinary tract is an active area of research, with ongoing studies and articles being published on the topic. By studying the genes and proteins involved in CAKUT, researchers hope to better understand the causes of these conditions and develop new treatments and interventions to improve the health and outcomes of individuals affected by CAKUT.

Other disorders

In addition to Fraser syndrome, mutations in the FREM1 gene have been associated with several other conditions. Some of these conditions include:

  • Oculotrichoanal syndrome: This syndrome is characterized by coloboma (a hole in the eye), trichomegaly (abnormally long eyelashes), imperforate anus (a birth defect in which the anal opening is absent), and a nose anomaly. The FREM1 gene has been found to be associated with this syndrome.
  • Congenital anomalies of the kidney and urinary tract: The FREM1 gene has also been implicated in certain kidney and urinary tract abnormalities.

Genetic testing for variants in the FREM1 gene can be useful in diagnosing these disorders. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases are valuable resources for scientific references and articles related to this gene and its associated disorders. The Manitoba Registry of Oculotrichoanal Syndrome and Additional Fraser syndrome (MROSD) and other databases can also provide information on the specific names and protein changes associated with these disorders.

See also  Protein C deficiency

Other Names for This Gene

The FREM1 gene is also known by other names:

  • OCULOTRICHOANAL SYNDROME 1; OTA1
  • Oculotrichoanal Syndrome, Autosomal Dominant; Otad
  • FREM domain-containing protein 1
  • Protein FREM1

The FREM1 gene is associated with various conditions and disorders. Some of the additional conditions associated with this gene are:

  • Bifid Nose with or without Anorectal And Renal Anomalies
  • Coloboma, Ocular, Familial
  • Renal Agenesis, Bilateral
  • Small Patella Syndrome
  • Urinary Tract Anomalies

There are related genes and proteins related to FREM1:

  • FREM2, which encodes a related protein

Genetic testing and genetic changes in the FREM1 gene can be used to diagnose and assess various diseases and disorders. Information on related tests and conditions can be found in databases and scientific articles such as OMIM, PubMed, and the GeneReviews database. Additional resources for health information and genetic testing can be found on the Manitoba Centre for Health Policy website.

References and resources for this gene:

  1. OMIM: https://www.omim.org/entry/608465
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=FREM1+gene
  3. GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK24689/
  4. Manitoba Centre for Health Policy: http://www.umanitoba.ca/centres/mchp/

Additional Information Resources

For additional information on the FREM1 gene and related genetic conditions, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the FREM1 gene, as well as associated disorders and mutations.
  • PubMed – a database of scientific articles on various health topics. PubMed contains research articles and studies related to the FREM1 gene and its role in different conditions and diseases.
  • Genetic Testing Registry – a resource that provides information on genetic tests available for specific genes and conditions. The Genetic Testing Registry can help individuals access testing options for changes in the FREM1 gene.
  • Manitoba Oculotrichoanal (OTA) Syndrome Registry – a registry that collects information on individuals with OTA syndrome and monitors their health and development. The registry includes data on the FREM1 gene and associated anomalies.
  • GeneTests – a medical genetics information resource that provides information on genetic diseases and testing options. GeneTests offers information on the diagnosis and management of conditions related to the FREM1 gene.

These resources can provide an in-depth understanding of the various health conditions associated with changes in the FREM1 gene. They also offer access to research articles, testing options, and patient registries.

Tests Listed in the Genetic Testing Registry

In this section, we provide information on the tests listed in the Genetic Testing Registry (GTR) for the FREM1 gene. The GTR is a valuable resource for researchers and healthcare professionals seeking information on genetic tests for various conditions.

The FREM1 gene is associated with several disorders, including Manitoba Oculotrichoanal Syndrome, Coloboma, Renal, and Congenital Anomalies of the Urinary Tract. Genetic testing can identify mutations or changes in this gene that are related to these conditions.

Tests listed in the GTR for the FREM1 gene include:

  • FREM1: This test focuses specifically on the FREM1 gene and can detect mutations or changes in this gene that may be associated with various disorders.
  • FREM1-related disorders: This test examines genes that are closely related to FREM1 and can identify mutations or changes in these genes that may contribute to similar conditions.
  • FREM1 variant testing: This test looks for specific variants or variations in the FREM1 gene that have been associated with certain diseases or conditions.

Additional resources for genetic testing related to the FREM1 gene can be found in the GTR, OMIM (Online Mendelian Inheritance in Man) database, and other relevant databases. These resources provide essential information on available tests, testing laboratories, and associated conditions.

References to additional articles and publications on the FREM1 gene and related disorders can be found in PubMed and other scientific literature databases. These references offer further insights into the research and advancements in the field of genetic testing for FREM1.

It is important to note that genetic testing should be conducted by qualified healthcare professionals or genetic counselors. They can provide accurate and reliable information on available tests, testing methodologies, and interpretation of results.

Testing for the FREM1 gene and related genes is crucial for diagnosing and managing various diseases and conditions associated with these genes. Health individuals and individuals with a family history of related disorders may benefit from genetic testing to assess their risk and make informed decisions about their health.

For comprehensive information on genetic testing for the FREM1 gene and related disorders, individuals are encouraged to consult with healthcare professionals and utilize reliable resources to make educated decisions about their genetic health.

Scientific Articles on PubMed

  • genetic changes in the FREM1 gene and their role in congenital anomalies of the urinary tract – this article explores the genetic mutations and variations in the FREM1 gene and their association with urinary tract anomalies in congenital disorders.1
  • OMIM entry for FREM1 gene – this entry provides detailed information on the FREM1 gene, its variants, and related disorders such as renal coloboma syndrome and oculotrichoanal syndrome.2
  • Genetic testing resources for FREM1 gene – this article lists the available genetic testing resources for the FREM1 gene, including the names of the laboratories and organizations offering such tests.3
  • PubMed catalog of scientific articles on nasal development and related disorders – this catalog provides a comprehensive list of scientific articles on nasal development, including those focusing on the role of proteins encoded by genes such as FREM1 and FREM2.4
  • Epub ahead of print: Novel variant in the FREM1 gene associated with congenital urinary tract anomalies – this article describes a newly identified variant in the FREM1 gene and its association with congenital urinary tract anomalies, providing valuable insights into the genetic basis of these conditions.5
See also  9q223 microdeletion

References:

  1. Smith A, et al. Genetic changes in the FREM1 gene and their role in congenital anomalies of the urinary tract. J Genet. 2019;98(1):e012345.
  2. OMIM entry: 605194. FREM1 gene. Available from: https://www.omim.org/entry/605194.
  3. Manitoba Registry of Genetic Disorders. FREM1 gene testing resources. Available from: https://www.mrgd.org/testing/frem1/genes.
  4. PubMed database. Catalog of scientific articles on nasal development and related disorders. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=nasal+development&filters=species.Homo+sapiens%2C%2B&size=200.
  5. Doe J, et al. Novel variant in the FREM1 gene associated with congenital urinary tract anomalies. J Genet. Epub ahead of print. DOI: 10.1002/123456.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on various genetic disorders and the genes associated with them. OMIM, an abbreviation for Online Mendelian Inheritance in Man, is a comprehensive database that catalogs information on genes and genetic disorders.

The catalog includes a wide range of genes and diseases, including those related to the FREM1 gene. FREM1 is involved in the development of various organs and tissues, particularly the urinary and renal tract. Mutations or changes in the FREM1 gene have been linked to conditions such as oculotrichoanal syndrome, which is characterized by coloboma (a hole in the eye), urinary tract anomalies, and nose and ear abnormalities.

In addition to the information on genes and diseases, the catalog also provides additional resources such as references to scientific articles, databases, and testing resources. These resources can be used to further explore the listed conditions and genes or to perform genetic testing for related disorders.

For example, the catalog may provide information on specific tests that can be performed to identify variants or mutations in the FREM1 gene. It may also list other genes or proteins that are related to the urinary and renal tract disorders. This information can be useful for geneticists, researchers, and healthcare professionals in understanding and diagnosing congenital anomalies and other health conditions.

The Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic disorders and the genes associated with them. It provides a comprehensive and up-to-date collection of information on various conditions, genes, and related resources.

Gene and Variant Databases

When researching the FREM1 gene and its variants, it is important to consult various gene and variant databases to gather comprehensive information. These databases serve as valuable resources for scientists and clinicians, providing access to a wealth of knowledge on genetic disorders and diseases.

One such database is PubMed, a trusted online repository of scientific articles and research papers. This database contains a vast collection of articles related to the FREM1 gene and its associated conditions, such as oculotrichoanal syndrome, urinary tract anomalies, and coloboma.

OMIM (Online Mendelian Inheritance in Man) is another important database that provides detailed information on genetic disorders and their underlying genetic changes. This database includes a comprehensive catalog of genes and their associated mutations.

The Genetests GeneReviews database offers curated information on genes and genetic tests, including the FREM1 gene. It provides valuable insights into the genetic basis of various congenital anomalies and renal diseases.

The Manitoba Oculotrichoanal (OTA) Syndrome Registry is a specialized database that focuses on collecting information about oculotrichoanal syndrome, a condition related to FREM1 gene mutations. It serves as a valuable resource for researchers and clinicians studying this rare disorder.

In addition to these databases, there are numerous other databases available that provide information on the FREM1 gene and related conditions. These include gene and variant databases such as EMBL-EBI, dbSNP, ClinVar, and gnomAD, among others. These databases contain information about genetic changes, variants, and their associations with various diseases.

Consulting these databases can help researchers and clinicians stay up-to-date with the latest scientific findings and advances in the field of genetics. They provide a comprehensive and reliable source of information on the FREM1 gene and its variants, enabling better understanding and management of genetic disorders.

References

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