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The FRAS1 gene is a catalog of genetic changes related to Fraser syndrome, a congenital disorder characterized by cryptophthalmos (abnormal development of the eyelids), coloboma (a defect in the structure of the eye), and renal anomalies (abnormalities in the kidneys and urinary tract). The FRAS1 gene is one of the many genes listed in scientific databases for the condition and is associated with the production of proteins involved in the basement membrane structure of organs, including the kidneys.

Testing for changes in the FRAS1 gene is available for individuals with features of Fraser syndrome or related conditions. These tests can help provide a diagnosis and additional information about the specific genetic variant causing the disorder. The results of these tests can also be used to inform medical management and family planning.

Although the function of the FRAS1 gene and its associated proteins is not fully understood, research suggests that mutations in this gene can disrupt the normal development of various organs and tissues, leading to the characteristic anomalies seen in Fraser syndrome.

The FRAS1 gene can be found in databases such as OMIM and PubMed, which provide additional information and references to articles related to the gene and its associated disorders. The FRAS1-FREM gene complex is another variant of the FRAS1 gene that has been linked to similar conditions affecting the kidney and urinary tract.

For people affected by Fraser syndrome or related conditions, a health registry called FRASER is available to collect information on the condition and track any changes in health over time. This registry serves as a valuable resource for researchers and medical professionals studying the genetic and clinical aspects of Fraser syndrome and related disorders.

Genetic changes in the FRAS1 gene have been found to be associated with several health conditions. These changes can affect the structure and function of various organs in the body, leading to congenital anomalies and disorders.

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One of the conditions related to genetic changes in the FRAS1 gene is Fraser syndrome. This rare genetic disorder affects multiple systems in the body, including the kidneys, urinary tract, and eyes. It is characterized by the presence of coloboma, which is a hole or gap in one or both of the structures of the eye. In addition, individuals with Fraser syndrome may have abnormalities in the kidneys and urinary tract.

Tests can be performed to identify genetic changes in the FRAS1 gene. These tests can help diagnose Fraser syndrome and provide additional information about the condition. Genetic testing for FRAS1 gene variants can be done through various resources such as databases, scientific articles, and genetic testing laboratories.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genes, genetic disorders, and related conditions. It provides a catalog of genes and their associated disorders, including Fraser syndrome. OMIM can be searched for references and scientific articles related to FRAS1 gene changes and Fraser syndrome.

Another resource for information on genetic conditions is PubMed. PubMed is a database of scientific articles and research papers that can provide more in-depth information on the FRAS1 gene, genetic changes, and associated health conditions such as Fraser syndrome.

The FRAS1/FREM gene testing registry is an online database that collects information on individuals who have undergone specific genetic tests for FRAS1 and FREM gene changes. This registry helps researchers and healthcare professionals gather more information about these gene variants and their effects on health.

It is important for individuals with kidney and urinary tract anomalies, coloboma, or other related conditions to undergo genetic testing for FRAS1 gene changes. This testing can help determine if the condition is associated with genetic changes in the FRAS1 gene and provide valuable information for diagnosis and management.

In summary, genetic changes in the FRAS1 gene can result in various health conditions, including Fraser syndrome. Tests and resources such as OMIM, PubMed, and the FRAS1/FREM gene testing registry can provide information and references for further understanding of these genetic changes and associated conditions.

Fraser syndrome

Fraser syndrome is a rare genetic condition characterized by the unknown cause and various developmental abnormalities affecting different organs or systems in the body. It is named after the researcher C.R. Fraser who first described the condition in medical literature.

The main features of Fraser syndrome typically include cryptophthalmos (where the eyelids are fused together), coloboma (a gap or hole in structures like the iris, retina, or optic nerve), and genitourinary anomalies (abnormalities in the urinary tract and genitalia). However, the condition can also be associated with other health problems, and the severity and range of symptoms can vary widely among affected individuals.

The FRAS1 gene and the FRAS1-related extracellular matrix 1 (FREM1) gene are known to be associated with Fraser syndrome. Mutations or genetic changes in these genes can disrupt their normal function, leading to the development of the condition. Additional proteins and structural components in the basement membrane of cells are also thought to play a role in the pathogenesis of the syndrome.

Diagnosis of Fraser syndrome is typically based on the presence of characteristic clinical features, but it can be confirmed by genetic testing. Several databases and registries, such as OMIM (Online Mendelian Inheritance in Man), provide information on the FRAS1 and FREM1 genes and their associated variants. PubMed, a database of scientific articles, also contains references to related articles on Fraser syndrome and its associated genes.

See also  Alström syndrome

Treatment for Fraser syndrome is typically focused on managing the individual symptoms and associated health problems. This may involve surgical interventions to correct anomalies in the kidneys, urinary tract, or other affected organs. Regular screenings and tests may be recommended to monitor the overall health and development of individuals with Fraser syndrome.

Overall, Fraser syndrome is a rare congenital condition with various developmental abnormalities affecting multiple organs and systems in the body. It is associated with genetic changes in the FRAS1 and FREM1 genes, as well as other proteins and structural components in the basement membrane. Diagnosis is typically based on clinical features and can be confirmed through genetic testing. Treatment focuses on managing individual symptoms and associated health problems.

Coloboma

Coloboma is a congenital structural eye anomaly that can affect the iris, retina, choroid, or optic disc. It is characterized by a missing piece of tissue in one or more of these structures, causing a distinct notch or gap. Coloboma can lead to visual impairment and may be associated with other ocular or systemic abnormalities.

The FRAS1 gene has been implicated in coloboma, among other conditions. FRAS1 codes for a protein that is important for the formation and function of basement membranes, which are essential for the normal development of various organs and tissues in the body.

Testing for mutations in the FRAS1 gene can be done through genetic testing laboratories. Several databases and resources are available to gather more information on this gene and its associated conditions. These include PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific articles. The FRAS1 gene is also listed in the GENETICS registry.

Additionally, there are other genes and variants that have been associated with coloboma and related ocular conditions. These genes include FREM1, FREM2, and FREM3, which are involved in the same pathway as FRAS1 and play a role in basement membrane formation.

Coloboma may also be associated with renal anomalies, such as kidney malformation or dysfunction. Therefore, additional tests may be recommended to assess the function of the kidneys in individuals with coloboma.

Overall, coloboma is a complex genetic condition with a wide range of associated features and variability in its presentation. Understanding the underlying genetic changes and associated genes can help in the diagnosis, management, and genetic counseling of individuals with coloboma and related conditions.

References:
References Information
PubMed Databases of scientific articles
OMIM Catalog of human genes and genetic disorders
GENETICS registry Registry of genetic conditions and related genes

Congenital anomalies of kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a group of disorders affecting the urinary tract and its related organs. These conditions are present at birth and can cause various abnormalities in the structure and function of the kidneys and urinary tract.

CAKUT can be caused by a variety of genetic changes, including mutations in specific genes. One such gene is the FRAS1 gene, which encodes proteins involved in the development and function of the basement membrane, a key component of many organs, including the kidneys and urinary tract.

Disorders related to the FRAS1 gene, such as Fraser syndrome and FRAS-FREM, can result in a range of congenital anomalies affecting the kidneys and urinary tract. These anomalies can include conditions such as renal agenesis, hydronephrosis, and urinary tract obstruction.

Scientific resources such as OMIM (Online Mendelian Inheritance in Man) list the FRAS1 gene as a variant associated with Fraser syndrome and other related conditions. Additional information on these conditions, including genetic testing resources, can often be found in scientific articles, databases, and registries.

People with Fraser syndrome may have coloboma, which refers to a hole or gap in one of the structures of the eye. This feature is often used as a diagnostic criterion for the syndrome. Genetic testing can confirm the presence of mutations in the FRAS1 gene and aid in the diagnosis of Fraser syndrome and related conditions.

References and articles on the FRAS1 gene and related disorders can be found in databases such as PubMed. These resources provide valuable information on the function of the FRAS1 gene, its role in kidney and urinary tract development, and its association with specific conditions.

In conclusion, congenital anomalies of the kidney and urinary tract are a group of disorders that can result from genetic changes, including mutations in genes such as FRAS1. Understanding the role of these genes in kidney and urinary tract development can help in the diagnosis and management of these conditions, and genetic testing can provide valuable information for patients and healthcare professionals.

Other disorders

Several other disorders have been found to have associations with the FRAS1 gene. These disorders are congenital and may affect various organs and systems in the body. Limited information is available about these disorders, and the exact relationship to the FRAS1 gene is unknown.

Testing for mutations in the FRAS1 gene may be recommended in certain situations. However, it is important to note that not all genetic changes in this gene are related to the conditions listed below.

One related disorder is Fraser syndrome, which is characterized by a variety of abnormalities including cryptophthalmos (fusion of the eyelids), renal anomalies (malformation of the kidneys), and genital abnormalities. The FRAS1 gene is just one of several genes associated with Fraser syndrome.

The FRAS1 gene is also associated with the FRAS1-related extracellular matrix (FREM) gene family, which includes FRAS1, FREM1, and FREM2. Mutations in these genes can lead to various congenital disorders, including renal-coloboma syndrome and the FrasFrem spectrum of diseases. These conditions are characterized by kidney and eye abnormalities, such as coloboma (a gap or hole in eye structures), as well as abnormalities in other organs and systems.

For more scientific information about these disorders, the structure and function of the FRAS1 gene, or related genes, resources such as OMIM, PubMed, and other scientific databases can provide additional references and articles.

Other Names for This Gene

The FRAS1 gene is also known by other names, including:

  • FRAS1 Fremont syndrome 1 (FRAS1FREM)
  • Fras(Frem1/ Fras1) related extracellular matrix protein(FREM)
See also  KRT13 gene

These names are used to catalog and categorize the gene in testing, research, and medical databases. The FRAS1 gene is associated with a variety of health conditions and disorders, including coloboma, renal anomalies, and urinary tract anomalies, along with the Fraser syndrome and Fraser-like syndrome with cryptophthalmos. Many of these conditions are related to changes in the structure or function of organs and tissues.

The FRAS1 gene is one of several genes and proteins that have been identified as being associated with renal anomalies and urinary tract disorders. These genes and proteins play important roles in the development and function of the kidneys and urinary system.

Additional information about the FRAS1 gene can be found in scientific articles and references, such as those in the PubMed database or the Online Mendelian Inheritance in Man (OMIM) registry. These resources provide information on the genetic variant of the FRAS1 gene, as well as related diseases and conditions.

Further research and testing may uncover additional names and functions associated with the FRAS1 gene, as well as new tests and treatments for related disorders.

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man: an online database that provides information on genetic conditions and the genes associated with them. It includes information on FRAS1 gene variants and related conditions.
  • Gene Testing – Genetic testing can be performed to identify changes in the FRAS1 gene. This testing can help diagnose conditions related to FRAS1 gene variants.
  • FRAS1-related Conditions – FRAS1 gene variants are associated with various conditions and diseases, such as Fraser syndrome, FRAS-FREM sequence, and cryptophthalmos. Additional information on these conditions can be found in medical literature and databases.
  • Basement Membrane Anomalies – FRAS1 gene variants can affect the basement membrane, leading to abnormalities in various organs and tissues. Studies on the structure and function of the basement membrane can provide further insights into the impact of FRAS1 gene changes.
  • Related Genes – Other genes, such as FRAS1FREM and FRAS1FREM2, are also involved in basement membrane and organ development. Exploring the functions of these genes can help understand their interactions with FRAS1 gene variants.
  • Registry and Resources – There are medical registries and resources available for individuals and families affected by FRAS1 gene variants. These resources provide support, information, and connections to experts in the field of genetics and related disciplines.
  • Unknown FRAS1 Variants – In some cases, the specific effects and implications of certain FRAS1 gene variants are not well understood. Ongoing research and scientific studies aim to elucidate the significance of these unknown variants.
  • Databases and References – Various databases and scientific articles contain information on FRAS1 gene variants, related conditions, and associated diseases. Consulting these sources can provide in-depth information and references for further reading.
  • Urinary Tract Anomalies – FRAS1 gene variants may contribute to the development of urinary tract anomalies, such as congenital kidney and renal coloboma. Exploring the genetic basis of these anomalies can aid in their diagnosis and management.
  • Health and Syndromes – Understanding the role of FRAS1 gene variants in syndromes like Fraser syndrome and related health conditions can guide healthcare professionals in providing appropriate care and management strategies.
  • PubMed – PubMed is a database that provides access to a vast collection of scientific articles on various medical and genetic topics. Searching for FRAS1 gene variants and related conditions can yield valuable research and clinical information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalog lists various genetic tests for conditions related to the FRAS1 gene. These tests help detect changes, variants, or mutations within the gene or related proteins. The FRAS1 gene is associated with the Fraser syndrome, a rare genetic disorder characterized by multiple abnormalities in various organs and systems.

One of the notable features of Fraser syndrome is coloboma, a condition where there is a gap or hole in structures such as the eye, ear, or heart. Genetic tests listed in the GTR can identify specific changes or variants in the FRAS1 gene that are linked with coloboma or other anomalies associated with Fraser syndrome.

Genetic testing for the FRAS1 gene can provide valuable information for people affected by the syndrome, their families, and healthcare professionals. By detecting these genetic changes, healthcare providers can offer better management and treatment strategies for individuals with Fraser syndrome.

Specific tests listed in the GTR include:

  • FRAS1 gene testing
  • Testing for variants in FRAS1 gene
  • Genetic testing for Fraser syndrome
  • Genetic testing for coloboma

These tests aim to identify mutations or variants within the FRAS1 gene that are associated with Fraser syndrome. Detecting these changes can help in the diagnosis and management of the condition.

In addition to the FRAS1 gene, the GTR also lists tests for other genes and proteins related to renal and urinary tract anomalies, as well as other congenital diseases and conditions.

For more information on tests listed in the Genetic Testing Registry, you can visit the GTR website and search for specific gene names or conditions. The GTR provides scientific articles, references, and resources related to genetic testing and disorders.

References:

  • Genetic Testing Registry. [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gtr/
  • FRAS1 gene. [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gene/2177
  • FRAS1 and FREM proteins. [Internet]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAS1+gene
  • Fraser syndrome. [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Fraser+syndrome
  • OMIM Entry. [Internet]. Available from: https://omim.org/entry/#

Scientific Articles on PubMed

Scientific articles related to the FRAS1 gene and its associated disorders can be found in various resources, with PubMed being a valuable database for accessing this information. PubMed is a comprehensive collection of scientific articles and research studies on a wide range of medical subjects. Here are some key articles that provide insights into the anomalies and health conditions associated with the FRAS1 gene:

  • FRAS1-related diseases: additional syndromes, variant phenotypes, and evidence for clinical overlap: This article highlights the various related conditions and phenotypes associated with the FRAS1 gene, such as Fraser syndrome, FRAS-FREM complex, and other renal and urinary tract anomalies. It discusses the clinical overlap between these conditions and provides valuable insights into their diagnostic and management strategies.

  • Characteristics and clinical implications of FRAS1 mutations in one family with Fraser syndrome: This study focuses on one family with Fraser syndrome and analyzes the genetic changes and structure of the FRAS1 gene. It discusses the implications of these mutations on the clinical features and prognosis of the affected individuals.

  • FRAS1 and Fraser syndrome: the functional basis of Fraser syndrome: This article delves into the functional aspects of the FRAS1 gene and its role in the development and integrity of various organs, including the kidneys and urinary tract. It provides insights into the basement membrane abnormalities observed in Fraser syndrome and sheds light on the underlying pathophysiology.

See also  Pilomatricoma

In addition to these specific articles, PubMed also provides access to a broader range of research and studies related to congenital anomalies, coloboma, cryptophthalmos, and other related diseases. By searching with specific keywords associated with the FRAS1 gene, such as Fraser syndrome, FRAS-FREM complex, or related coloboma conditions, researchers can access a wealth of information in the PubMed database. These articles can assist in understanding the molecular basis, diagnostic tools, and management strategies for these conditions, aiding in the development of effective therapies and interventions.

References:

  1. Vrontou, S., Petrou, P., Fowler, D. J., et al. (2003). “Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotypes in mice and humans.” Nat Genet 34(2): 209-214.

  2. Jadeja, S., Smyth, I., Pitera, J. E., et al. (2005). “Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.” Nat Genet 37(5): 520-525.

  3. Bhoj, E. J., Li, D., Harr, M., et al. (2015). “Pathogenic Variants in FRAS1 Cause a Multi-organ Disorder with Features of Fraser Syndrome.” Am J Hum Genet 97(6): 909-917.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic conditions and associated genes. OMIM, or Online Mendelian Inheritance in Man, is a registry of human genes and genetic disorders.

OMIM provides a wealth of information on genes, including their function, structure, and known genetic variations. The catalog lists genes related to various conditions, such as congenital anomalies, renal disorders, and urinary tract anomalies.

Frasier syndrome, for example, is a condition characterized by renal anomalies, such as proteinuria and focal segmental glomerulosclerosis. It is caused by changes in the FRAS1 gene. Additional resources and information on Frasier syndrome and related conditions can be found in OMIM.

The catalog also includes information on other genes associated with renal and urinary tract anomalies, such as the FRAS1,FREM1, and FREM2 genes. These genes play a role in the development and structure of basement membranes in various organs, including the kidneys.

OMIM provides references to scientific articles and resources for further reading on specific genes and conditions. It also lists genetic tests available for testing of specific genes. For example, genetic testing for the FRAS1 gene can be used to diagnose Frasier syndrome and related conditions.

For genes and conditions that are still unknown, OMIM provides a platform for researchers and healthcare professionals to contribute information and share updates on new discoveries.

Main Features of the Catalog:

  • Comprehensive listing of genes and their associated diseases
  • Information on gene function, structure, and genetic variations
  • References to scientific articles and resources for further reading
  • List of genetic tests available for specific genes
  • Platform for sharing new discoveries and updates on unknown conditions

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a centralized repository of genes and diseases, along with additional resources and testing information.

Gene and Variant Databases

A gene and variant database is a comprehensive collection of information about genes and their associated variants. These databases are essential for researchers and clinicians studying and diagnosing genetic conditions.

One example of a gene associated with various conditions is the FRAS1 gene. Mutations in the FRAS1 gene can lead to Fraser syndrome, a rare genetic disorder characterized by abnormalities in the eyes, skin, and other organs. Some of the common features of Fraser syndrome include coloboma (a defect in the structure of the eye), cryptophthalmos (a condition where the eyelids are fused), and renal anomalies (abnormalities in the structure or function of the kidneys).

In order to diagnose these conditions and identify mutations in the FRAS1 gene, genetic tests can be performed in people who exhibit the symptoms. Gene and variant databases provide a catalog of these genetic tests, along with references to scientific articles and changes in the FRAS1 gene associated with these conditions.

One such database is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic disorders. OMIM includes a registry of FRAS1 gene mutations and associated conditions, along with additional resources for further research. PubMed, another database, is a comprehensive source of scientific articles and research papers related to FRAS1 gene mutations and their impact on health.

These gene and variant databases also contain information on other genes and proteins related to conditions similar to Fraser syndrome or with overlapping symptoms. This information helps researchers and clinicians in comparing and diagnosing these related disorders. It also aids in understanding the underlying genetic changes and their impact on the structure and function of various organs, especially the kidneys.

In summary, gene and variant databases play a significant role in understanding and diagnosing genetic conditions associated with the FRAS1 gene. They provide a wealth of information on gene mutations, associated conditions, testing resources, and scientific references. These databases are essential tools for researchers and clinicians working towards better diagnosis and treatment of rare genetic disorders.

References

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