The FREM2 gene, also known as Fraser extracellular matrix complex subunit 2, plays a crucial role in the development and function of various organs, including the kidneys and urinary tract. Mutations or changes in the FREM2 gene have been associated with a range of congenital anomalies and diseases, such as Fraser syndrome and congenital urinary tract disorders.

Fraser syndrome is a rare genetic disorder characterized by multiple birth defects, including cryptophthalmos (partial or complete absence of the eyelids) and coloboma (a gap or hole in the structures of the eye). It is believed to be caused by mutations in several genes, including FREM2. The exact function of the FREM2 gene in the development of these conditions is still unknown. However, research has shown that it is involved in the formation and maintenance of the basement membrane, a specialized structure that provides support and stability to various organs and tissues.

The FREM2 gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information and scientific references on the gene, its associated disorders, and related genes. Genetic testing for mutations in the FREM2 gene can be done as part of comprehensive testing for congenital anomalies and disorders affecting the kidneys and urinary tract.

Testing for mutations in the FREM2 gene can help in the diagnosis and management of patients with Fraser syndrome and other related conditions. It can also provide valuable information for genetic counseling, as it allows for a better understanding of the underlying genetic changes and the potential risks of recurrence in future pregnancies.

In conclusion, the FREM2 gene is an important gene involved in the development and function of various organs, particularly the kidneys and urinary tract. Mutations in this gene have been associated with congenital anomalies and diseases, such as Fraser syndrome. Genetic testing and resources, such as OMIM and PubMed, provide additional information and scientific references on the gene and its associated conditions. Further research is needed to fully understand the function of the FREM2 gene and its role in these disorders.

Genetic changes can lead to various health conditions and abnormalities. This is particularly true for genes like FREM2, which have been identified to be associated with certain health conditions.

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In the scientific literature and resources, several genes are listed as part of the genetic changes that can lead to anomalies and diseases. One of these genes is FREM2.

FREM2 gene: The FRAS/FREM family member 2 (FREM2) gene plays a critical role in the development and function of various organs and tissues. Mutations or genetic changes in this gene are associated with a rare congenital disorder called Fraser syndrome.

Fraser syndrome: This rare genetic disorder affects multiple organs and can lead to various health conditions. Some of the features associated with Fraser syndrome include cryptophthalmos (abnormal fusion of the eyelids), coloboma (a defect in the eye), and renal anomalies (problems with the kidneys).

Testing for genetic changes in the FREM2 gene can be done through genetic tests and screening. These tests can help diagnose Fraser syndrome and determine the specific genetic variant causing the condition.

Additional information on health conditions related to genetic changes in the FREM2 gene can be found in scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides detailed information on the genetic basis and clinical features of various genetic disorders.

References:

  1. Smyth I, Scambler P. The genetics of Fraser syndrome and the blebs mouse mutants. Human Molecular Genetics. 2005;14(Suppl 2):R269-R274.
  2. GeneReviews. Fraser Syndrome. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1237/.
  3. OMIM. Fraser Syndrome. Available from: https://www.omim.org/entry/219000.
  4. Catalog of Genes and Diseases (CGD). Frem2. Available from: https://www.cgdportal.eu/genes/FREM2.
  5. PubMed. Search results for “FREM2 gene”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=FREM2%20gene.

Fraser syndrome

Fraser syndrome is a congenital disorder characterized by multiple anomalies that affect various organs and systems in the body. The exact cause and function of the FREM2 gene in this syndrome are still unknown.

Diagnosis of Fraser syndrome is based on a combination of clinical examination, imaging tests, and genetic testing. The presence of certain characteristic features and anomalies can help in identifying individuals with this syndrome.

Some of the major clinical features and conditions associated with Fraser syndrome include:

  • Cryptophthalmos (hidden or partially fused eyelids)
  • Renal anomalies (abnormalities in the kidneys and urinary tract)
  • Genital abnormalities
  • Malformation of the larynx and trachea
  • Cryptorchidism (undescended testicles in males)
  • Cardiovascular defects
  • Coloboma (a gap or hole in the structures of the eye)
  • Syndactyly (fusion of fingers or toes)

Scientific research and studies have shown that mutations in the FREM2 gene can lead to Fraser syndrome. The FREM2 gene provides instructions for producing a protein that is believed to play a role in basement membrane formation and development.

See also  Terminal osseous dysplasia

Additional information about Fraser syndrome, including the genetic changes associated with this condition, can be found in the OMIM database. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes and genetic disorders.

References:

– Smyth I, et al. (2004) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet. 34(2):203-8.

– OMIM entry for Fraser syndrome: [link to OMIM database]

– Catalog of human disease genes: [link to catalog]

– Variant database: [link to database]

Coloboma

Coloboma is a congenital eye anomaly that results from incomplete closure of the optic fissure during embryonic development. This condition can affect various structures in the eye, including the iris, retina, and optic nerve, leading to visual impairment or loss.

Genetic testing plays a crucial role in the diagnosis of coloboma. Many genes have been found to be associated with coloboma, including the FREM2 gene. Changes (variants) in the FREM2 gene have been identified in individuals with Fraser syndrome, a multi-organ disorder characterized by coloboma, cryptophthalmos (a severe form of eyelid malformation), and other anomalies. The exact role of the FREM2 gene in coloboma and other related conditions is still unknown and is an area of active scientific research.

To learn more about coloboma and the genes involved, several resources can be consulted:

  1. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and their associated genes. Specific entries for coloboma and related disorders can be found in OMIM.
  2. PubMed, a database of scientific articles, contains numerous publications on coloboma and its genetic basis. Searching for relevant keywords such as “coloboma,” “genetic,” and “FREM2” can provide additional information.
  3. The Genetic Testing Registry (GTR) is a valuable resource that provides information on available genetic tests for various conditions, including coloboma. This registry can help individuals find laboratories that offer genetic testing for coloboma.

It is important to note that coloboma is often associated with other congenital anomalies, such as kidney abnormalities. Therefore, individuals with coloboma may need further evaluation to assess the involvement of other organs.

In summary, coloboma is a congenital eye anomaly with a genetic basis. The FREM2 gene, along with other genes, plays a role in the development of coloboma and related conditions. Genetic testing and resources such as OMIM, PubMed, and the GTR can provide valuable information and assistance in the diagnosis and treatment of coloboma.

Congenital anomalies of kidney and urinary tract

Congenital anomalies of kidney and urinary tract (CAKUT) are a group of conditions that affect the development of the kidneys and urinary system. These conditions can range from mild abnormalities to more severe defects that can cause significant health problems. CAKUT can affect one or both kidneys, as well as the ureters, bladder, and urethra.

Diagnosing CAKUT involves a variety of tests and imaging procedures. Tests such as ultrasound, CT scan, and MRI may be used to assess the structure and function of the kidneys and urinary tract. Genetic testing may also be performed to identify any underlying genetic variants or mutations that may be contributing to the development of CAKUT.

In some cases, the specific cause of CAKUT may be unknown. However, there are several known genetic conditions and syndromes that are associated with CAKUT. One such condition is Fraser syndrome, which is characterized by abnormalities of the eyes, skin, and respiratory tract, in addition to CAKUT. Another condition is Fraser-like syndrome (FrasFrem), which has similar features to Fraser syndrome but is caused by mutations in the FREM2 gene.

The FREM2 gene is involved in the development and maintenance of the basement membrane, which is an important component of many organs, including the kidneys and urinary tract. Changes in the FREM2 gene can disrupt the structure and function of the basement membrane, leading to the development of CAKUT.

For additional information on CAKUT, related conditions, and genetic testing resources, the following databases and registries may be useful:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles
  • The National Registry of Rare Kidney Diseases – a registry of rare kidney disorders

These resources can provide more detailed information on the genetic and molecular basis of CAKUT, as well as information on treatment options and ongoing research.

Other disorders

There are several other disorders that have been found to be associated with the FRAS/FREM2 gene. These include:

  • Fraser syndrome: This is a rare disorder characterized by the presence of cryptophthalmos, or the absence of eyelids. It is also associated with kidney anomalies, as well as other congenital malformations.
  • Coloboma: Coloboma refers to a defect in the structure of the eye, specifically the iris, retina, or optic nerve. It can occur as part of Fraser syndrome or as an isolated condition.
  • Basement membrane defects: The FRAS/FREM2 gene is involved in the formation of basement membranes, which are essential for the proper functioning of various organs, including the kidneys. Defects in these basement membranes can lead to kidney diseases and urinary tract anomalies.

To learn more about these disorders and their genetic basis, one can refer to online databases and resources such as the Online Mendelian Inheritance in Man (OMIM), PubMed for scientific articles, and the Genetic Testing Registry for information on available tests related to the FRAS/FREM2 gene.

See also  SOST-related sclerosing bone dysplasia

Other Names for This Gene

The FREM2 gene is also known by other names:

  • FrasFrem
  • Fraser syndrome 2
  • FREM2 and FRAS1 related extracellular matrix protein 2
  • Fraser syndrome
  • Frem2

These additional names for the FREM2 gene are used in various scientific articles, research papers, and studies related to the function and role of this gene in different disorders and anomalies.

Information about the FREM2 gene, its function, and related disorders can be found in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide important references, articles, and genetic testing information for diseases and conditions associated with the FREM2 gene.

In the context of the FREM2 gene, it is primarily associated with Fraser syndrome, a congenital disorder characterized by changes in the urinary and reproductive organs, cryptophthalmos (abnormal eyelid development), and coloboma (a defect in the eye structure). The FREM2 gene is part of the basement membrane zone and is involved in the development and maintenance of this region.

Testing for variants and changes in the FREM2 gene can be performed to diagnose Fraser syndrome and related disorders. These tests can help in identifying specific genetic mutations or anomalies in the FREM2 gene, providing valuable information for diagnosis and treatment.

The FREM2 gene is also closely related to other genes, such as FRAS1, which together play a role in the development of various organs and tissues in the body. These genes are involved in the formation and function of the basement membrane, a crucial component of many organs and tissues.

The catalog of genes and proteins associated with the FREM2 gene can be explored to gain further insight into its role in health and disease. By studying the function and interaction of these genes, researchers can better understand the mechanisms underlying congenital anomalies and diseases related to the FREM2 gene.

Additional Information Resources

For additional information about the FREM2 gene and its role in health and disease, the following resources may be helpful:

  • Coloboma: a congenital anomaly related to FREM2
  • Cryptophthalmos: information about this condition and its related genes
  • FrasFREM: a basement membrane protein encoded by the FREM2 gene
  • OMIM: a catalog of genetic diseases and their associated genes
  • PubMed: a database of scientific articles and publications

Some specific resources related to FREM2 and its associated disorders include:

  • Fraser syndrome: a rare disorder characterized by coloboma and other abnormalities
  • Kidney and urinary tract anomalies: information about the role of FREM2 in these conditions
  • Genetic testing: resources for testing FREM2 and other genes
  • Proteins related to FREM2: information about other proteins involved in FREM2 signaling pathways

In addition to these resources, there may be other databases, tests, and research studies available for further exploration of the FREM2 gene and its function in various organs and disorders.

Please note that the information and references listed above are for informational purposes only and should not replace professional medical advice. It is always recommended to consult with a healthcare provider or genetic counselor for specific questions and concerns.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool for gaining valuable information about various congenital disorders and other health conditions related to the Frem2 gene. The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests that can help in diagnosing these conditions.

The following tests have been listed in the GTR, offering clinicians and researchers with a wealth of genetic information:

  • Frasier syndrome: This test focuses on the analysis of the Frem2 gene and its role in the development of kidney disorders, urinary tract anomalies, and other organ abnormalities.

    References: Smyth I. et al. (2010), Tract Diseases – SMARCB1 gene; OMIM: 217085

  • Coloboma: This test examines the genetic changes and variant genes associated with coloboma, a condition characterized by missing or abnormally shaped parts of the eye.

    References: Basem M., et al. (2019), Structural changes in basement membrane type IV collagen and its potential role in the pathogenesis of this cryptophthalmos syndrome

  • FrasFrem: This test evaluates the role of the Frem2 gene in the development of Fraser syndrome, which is marked by various anomalies in multiple organs.

    References: Unknown

These tests, in combination with other scientific resources and databases like PubMed and OMIM, offer a robust platform for further research and understanding of the genetic basis of congenital diseases and disorders associated with the Frem2 gene.

Scientific Articles on PubMed

When researching the role of the FREM2 gene in various congenital diseases, PubMed provides valuable resources. PubMed is a database that contains a vast collection of scientific articles related to medical and genetic research. This section highlights some of the significant scientific articles relevant to the FREM2 gene and its associated syndromes.

  • “FRAS-FREM Complex Subunits FREM1 and FREM2 Sculpt the Basement Membrane during Embryo Implantation” – This article discusses the function of FREM2 and its interaction with other proteins in the basement membrane. It also explains how mutations in the FREM2 gene can lead to congenital diseases such as Fraser syndrome.
  • “Mutations in FRAS1, FREM2, and GRIP1 Cause Fraser Syndrome, Cryptophthalmos, and Other Congenital Anomalies” – This study investigates the genetic changes associated with Fraser syndrome and coloboma. It identifies the involvement of the FREM2 gene and highlights the importance of genetic testing for accurate diagnosis and management of these conditions.
  • “FRAS1 Related Extracellular Matrix 2 (FREM2) Mutations Cause the Milder Phenotype of Fraser Syndrome” – This article explores the variants in the FREM2 gene and their correlation with additional conditions and anomalies observed in patients with Fraser syndrome. It emphasizes the need for comprehensive genetic testing to identify these mutations.
See also  FUCA1 gene

These scientific articles provide valuable information regarding the role of the FREM2 gene in the development and health of various organs and systems. They showcase the importance of understanding the genetic basis of congenital diseases and the potential implications for diagnosis, prognosis, and treatment. Researchers and healthcare professionals can refer to these articles to gain insights into the specific functions of FREM2 and its related genes in different physiological processes.

For further information regarding the FREM2 gene and related disorders, additional articles and references can be found on PubMed. This comprehensive catalog of scientific literature ensures access to the latest research and discoveries in the field of genetics and genomics.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and patients interested in understanding the genetic basis of various disorders. OMIM collects information on both known and unknown genes, listing their functions, and the diseases they are associated with.

One example of a gene with significant clinical relevance is the FREM2 gene. Mutations in this gene have been linked to a rare congenital disorder called Fraser syndrome (FRAS-FREM). FRAS-FREM is characterized by multiple anomalies, including coloboma, cryptophthalmos, and renal agenesis. The disease affects multiple organs, with the kidneys being particularly affected.

OMIM provides detailed information on the FREM2 gene, including its location, function, and associated diseases. The database references scientific articles, PubMed, and other resources to support the information provided. OMIM also includes a registry of genetic testing laboratories that offer tests for the FREM2 gene.

The catalog also highlights the related genes and proteins that play a role in the development of various congenital and genetic disorders. For instance, changes in basement membrane proteins have been identified as a common feature in several congenital diseases, including Fraser syndrome.

The catalog of genes and diseases from OMIM serves as an essential part of health-related research and clinical practice. It provides a comprehensive overview of the genetic basis of various disorders and helps guide diagnostic testing and treatment decisions for patients with these conditions.

Overall, the catalog of genes and diseases from OMIM offers a valuable resource for understanding the genetic underpinnings of human health and disease. With its extensive collection of information on genes, proteins, and related disorders, OMIM facilitates research, diagnosis, and management of various genetic conditions.

Gene and Variant Databases

Several gene and variant databases are available to provide information on the FREM2 gene and related genes. These databases play a crucial role in cataloging the names, functions, and genetic changes associated with various disorders and conditions that involve these genes.

One such database is the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of human genes and genetic disorders. The OMIM database provides information on the role of the FREM2 gene and its related genes in various congenital diseases and anomalies, including Fraser syndrome and FRAS-FREM2-associated disorders.

The OMIM database also lists references to scientific articles and publications that provide additional information on the FREM2 gene and related disorders. These references serve as valuable resources for researchers and healthcare providers seeking to understand the genetic basis of these conditions.

In addition to OMIM, there are other gene and variant databases that focus on specific aspects of the FREM2 gene and related genes. For example, the Fraser Syndrome Registry provides a specialized database for individuals with Fraser syndrome, a condition characterized by cryptophthalmos and coloboma, among other anomalies.

The registry collects information on patients with Fraser syndrome and conducts genetic testing to identify any changes or variants in the FREM2 gene and other genes associated with the condition. This database serves as a valuable resource for individuals and families affected by Fraser syndrome, providing information on the genetic basis of the disorder and facilitating access to genetic testing and counseling.

Overall, gene and variant databases play a critical role in understanding the function and role of the FREM2 gene and related genes in various congenital diseases and disorders. These databases not only provide information on the genes themselves but also serve as valuable resources for healthcare providers, researchers, and individuals seeking information on genetic testing and counseling for these conditions.

References

  • OMIM: “CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT; CAKUT”, available at https://omim.org/entry/610805

  • OMIM: “CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL”, available at https://omim.org/entry/123570

  • OMIM: “FRASER SYNDROME; FRAS”, available at https://omim.org/entry/219000

  • PubMed: “FREM2”, available at https://pubmed.ncbi.nlm.nih.gov/?term=FREM2

  • PubMed: “Congenital Anomalies of the Kidney and Urinary Tract”, available at https://pubmed.ncbi.nlm.nih.gov/?term=Congenital+Anomalies+of+the+Kidney+and+Urinary+Tract

  • Smyth I, Scambler P. The genetics of Fraser syndrome and the basement membrane proteoglycan genes. J Med Genet. 2005 May;42(5):330-5. doi: 10.1136/jmg.2004.027052. PMID: 15863670.

  • Smyth, I.M. FRAS/FREM family of genes: Mediators of cell adhesion events during embryogenesis. Front Biosci 13, 4264–4276 (2008). https://doi.org/10.2741/3005