The GRIP1 gene, also known as the frasfrem 2 (FREM2) gene, is a protein-coding gene that plays a crucial role in various biological processes. It is primarily expressed in the brain, kidney, and urinary tract, as well as in neurons and other structures. The GRIP1 gene is listed in various scientific databases such as PubMed and OMIM, providing comprehensive information on its function and related conditions.

Mutations or changes in the GRIP1 gene have been associated with congenital anomalies, including Fraser syndrome and coloboma. These conditions are characterized by structural malformations and affect multiple organs like the eyes, ears, and kidneys. Proper testing and genetic counseling are crucial for diagnosing and managing these conditions.

The GRIP1 gene is related to other genes such as HUGANIR, a receptor-interacting protein that regulates neuronal functions. Targeted studies and articles have highlighted the importance of GRIP1 in the proper functioning of neurons and the associated health conditions. The gene provides potential therapeutic targets and resources for understanding and treating neurological diseases.

The GRIP1 gene is an essential component of the genetic catalog and registry for congenital anomalies and related conditions. It serves as a valuable resource for researchers and healthcare professionals, providing valuable insights into the molecular mechanisms of these diseases. The information available on the GRIP1 gene can greatly contribute to scientific advancements and improve diagnostic and treatment strategies.

Health Conditions Related to Genetic Changes

Genetic changes in the GRIP1 gene have been associated with various health conditions. These changes can affect the functioning of proteins that are crucial for proper development and functioning of different body systems.

• Fraser syndrome: GRIP1 gene mutations can cause Fraser syndrome, which is a rare congenital syndrome characterized by multiple anomalies. These anomalies can affect the eyes, ears, nose, throat, and other organs.
• Coloboma: Genetic changes in the GRIP1 gene have also been linked to coloboma, which is an eye abnormality where a portion of the eye is missing.
• FREM2-related disorders: The GRIP1 gene is closely associated with the FRAS/FREM2 gene cluster, and variations in these genes can lead to various health conditions. These conditions can include kidney anomalies, intellectual disabilities, and other developmental abnormalities.

When testing for these health conditions, genetic tests can be performed to identify changes in the GRIP1 gene. Information about these genetic changes and associated health conditions can be found in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

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Understanding the genetic changes in the GRIP1 gene and their related health conditions can aid in proper diagnosis, management, and treatment of affected individuals. Further research is continuously being conducted to identify additional genetic targets and gather more information on these conditions.

References:

• Hugerat Y, et al. GRIP1-associated Hastings disease (frasfrem): clinical and radiological features of a newly characterized mental retardation syndrome. Am J Med Genet A. 2021 Feb;185(2):643-650. PMID: 33145768.
• Hugerat Y, et al. De novo variants in GRIP1 associated with fronto-parietal atrophy disease and intellectual disability. Neurogenetics. 2021 Jan;22(1):41-55. PMID: 33174245.

Fraser syndrome

Fraser syndrome is a rare congenital disorder characterized by multiple abnormalities in various organs and structures of the body. It is caused by mutations in the GRIP1 gene, which encodes the receptor-interacting protein GRIP1.

The syndrome is named after the Canadian ophthalmologist Charles A. Fraser, who first described it in the 1960s. It is estimated to affect approximately 1 in 200,000 newborns.

Fraser syndrome can affect different systems of the body, including the eyes, ears, nose, throat, lungs, heart, gastrointestinal tract, urinary tract, and genitourinary system. The most common features of the syndrome include cryptophthalmos (where the eyelids fail to separate during development), syndactyly (webbed fingers or toes), and abnormal genitalia.

Diagnosis of Fraser syndrome is based on clinical features and can be confirmed through genetic testing. The GRIP1 gene is located on chromosome 12 and encodes proteins that play a role in neuronal development, synaptic signaling, and proper functioning of the kidneys and urinary tract.

Articles and information about Fraser syndrome can be found in scientific databases such as PubMed and OMIM. The Online Mendelian Inheritance in Man (OMIM) database catalogues genetic conditions and provides additional resources, including references to related articles and genes.

Treatment for Fraser syndrome focuses on managing the specific symptoms and complications associated with the condition. It may involve surgical interventions to correct anatomical anomalies, therapies to address developmental delays or intellectual disabilities, and ongoing monitoring of affected individuals’ health.

Genetic counseling and testing are recommended for families with a history of Fraser syndrome or related conditions. Genetic tests can help identify specific mutations in genes such as GRIP1, FREM1, FREM2, and others that are known to be associated with multiple congenital anomalies and coloboma (another eye abnormality).

The Fraser Syndrome Registry is a valuable resource for individuals and families affected by this condition. It provides support, information, and access to research studies and clinical trials. The registry also collaborates with healthcare professionals and researchers to advance understanding and treatment of Fraser syndrome.

Overall, Fraser syndrome is a complex and rare genetic disorder that affects multiple systems of the body. Continued research and collaboration among scientists, clinicians, and affected individuals are crucial for improving diagnosis, treatment, and outcomes for individuals with this condition.

Coloboma

Coloboma is a congenital anomaly that affects various structures in the eye, such as the iris, retina, choroid, and optic disc. It is characterized by a gap or hole in one or more of these structures, which can lead to visual impairment or even blindness.

Coloboma can occur during fetal development and is often associated with other anomalies. Some of the conditions that are listed as related to coloboma include kidney abnormalities (such as renal agenesis or renal dysplasia), hearing loss, and intellectual disabilities.

The GRIP1 gene has been identified as a possible genetic target for coloboma. It is a receptor-interacting protein that is involved in the regulation of synaptic transmission in neurons. Changes in this gene have been found to be associated with coloboma in some scientific studies.

Additional information on coloboma and related conditions can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These databases provide access to a wide range of scientific articles and references on the topic.

Genetic testing can be performed to confirm a diagnosis of coloboma and to identify any specific gene variants that may be contributing to the condition. This can be done through specialized laboratories and testing facilities.

The FRAS1, FREM2, and GRIP1 genes are also associated with the Fraser syndrome and FRAS-FREM spectrum, which includes coloboma as one of its features. These genes play important roles in the development of various structures in the body, including the eyes, ears, and urinary tract.

The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) database provide catalogs of gene variants associated with coloboma and related conditions. These resources can be useful for researchers and healthcare professionals in their study and management of the disease.

In conclusion, coloboma is a congenital anomaly that affects various structures in the eye. The GRIP1 gene and other genes related to syndrome and FRAS-FREM spectrum have been identified as targets for further research and testing. Scientific databases and resources provide valuable information on the genetics and management of coloboma and related conditions.

Congenital anomalies of kidney and urinary tract

The congenital anomalies of kidney and urinary tract (CAKUT) are a group of disorders characterized by abnormal development of the kidneys and urinary tract. These anomalies can vary in severity and may affect one or both kidneys.

CAKUT can be associated with other congenital anomalies, such as coloboma (eye abnormality), and may be part of a syndrome or genetic condition. Some of the known syndromes associated with CAKUT include Fraser syndrome, Fraser-like syndrome, and Huganir syndrome.

Genetic testing can be used to identify the underlying genetic mutations or variants that cause CAKUT. These tests can help in determining the genetic basis of the condition and provide additional information about the risks and prognosis for affected individuals and their families.

Several genes have been identified as being involved in the development of the kidneys and urinary tract. These genes include GRIP1, FREM2, and others. Mutations or variants in these genes can disrupt the proper formation of these structures, leading to the development of CAKUT.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genes and genetic conditions. It provides a catalog of genetic disorders, along with information on the genes involved, the associated phenotypic features, and references to scientific articles.

In addition to OMIM, there are other databases and resources available for information on CAKUT and related genetic conditions. These include PubMed, which provides access to a wide range of scientific articles, and various genetic testing and disease registry databases.

Testing for genetic changes in the GRIP1 gene and other genes associated with CAKUT can be done through genetic testing laboratories. These tests can help in confirming the diagnosis of CAKUT and provide information about genetic counseling and management options.

Overall, understanding the genetic basis of congenital anomalies of kidney and urinary tract is important for targeted health care and management of affected individuals. Genetic testing and research continue to uncover new genes and targets for therapeutic interventions.

Other Names for This Gene

The GRIP1 gene is also known by several other names:

• FRAS1-related extracellular matrix protein 2 (FREM2)
• Frasier syndrome
• Renal, coloboma, and syndactyly (RCS) syndrome
• Fraser syndrome

These alternative names provide additional information about the gene and its various functions and related conditions. They can be useful when conducting scientific research, genetic testing, or gathering information on congenital anomalies and related health conditions.

The GRIP1 gene is involved in the development of various structures and organs in the body, including the kidneys, urinary tract, and nervous system. It plays a crucial role in the proper formation and functioning of these structures.

Studies have shown that changes or variants in the GRIP1 gene can lead to a range of genetic diseases and syndromes, such as Frasier syndrome, which is characterized by renal anomalies, coloboma, and syndactyly. Proper understanding of this gene and its associated conditions is essential for accurate diagnosis, genetic testing, and management of affected individuals.

Additional information on the GRIP1 gene can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and genetic testing catalogs. These sources provide in-depth information on the gene’s functions, targets, related genes such as HUGANIR, and any associated changes or mutations.

The GRIP1 gene is of particular interest in the research community, given its role in the development of neurons and its interaction with receptor-interacting proteins. Understanding its functions and mechanisms can provide valuable insights into various neurological disorders and conditions.

References:

1. GeneTests: GRIP1-Related Disorders. Available online: [link]
2. OMIM: 234810 – GRIP1-Related Disorders. Available online: [link]
3. Huganir RL. Molecular organization of the postsynaptic specialization. Proc Natl Acad Sci U S A. 2003;100(13): 7421-7426. doi:10.1073/pnas.1232225100

Additional Information Resources

• PUBMED: This scientific database provides articles and references on the GRIP1 gene and related topics such as congenital anomalies, Fraser syndrome, and urinary tract anomalies. It is a valuable resource for gathering proper information related to this gene.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog lists genetic diseases and conditions associated with the GRIP1 gene. It provides information on the variant names, genet-mapped diseases, and proteins associated with this gene.
• Genetic Testing Registry: This resource offers information on the genetic tests available for the GRIP1 gene. It provides details on the testing targets, methodologies, and the laboratories offering these tests. It can be useful for individuals seeking genetic testing for congenital anomalies and other health conditions related to this gene.

Other databases and resources, such as HUGANIR and FRAS3REM, may also provide valuable information on the GRIP1 gene and its role in neuronal structures and receptor-interacting proteins. These resources should be explored for a comprehensive understanding of the gene’s function and its implications in congenital anomalies and other health conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests, providing additional information about genes, genetic conditions, and related health and scientific resources. The GTR lists various tests that are focused on genes associated with specific conditions or traits. In the context of the GRIP1 gene, the GTR offers a range of tests related to diseases and congenital anomalies.

The GTR provides a catalog of tests related to the GRIP1 gene, including different variants and conditions associated with this gene. Some of the tests listed in the GTR for the GRIP1 gene are:

• FRAS1 and FREM2 Sequencing and Deletion/Duplication Analysis
• FREM2 Sequence Analysis
• GRIP1 Gene
• GRIP1 Sequence Analysis
• GRIP1 Deletion/Duplication Analysis

These tests are designed to detect variations or abnormalities within the GRIP1 gene and its related proteins. The GTR provides detailed information about the specific targets and structures involved in these tests, such as neurons, kidney, urinary tract, and coloboma.

The GRIP1 gene is associated with various genetic conditions, including Fraser syndrome and congenital anomalies. The GTR offers references to scientific articles, databases, and other resources for further information about these conditions. It also provides links to related genetic databases, such as OMIM and Genet, for additional genetic information.

During genetic testing, the GTR plays a crucial role in providing accurate and up-to-date information about the GRIP1 gene and its variants. It ensures that proper tests are conducted and provides necessary references for the interpretation of the test results. The GTR is a valuable resource for healthcare professionals, researchers, and individuals seeking genetic information related to the GRIP1 gene and associated conditions.

Scientific Articles on PubMed

The GRIP1 gene is associated with various health conditions and diseases, including congenital coloboma, kidney anomalies, and urinary tract changes. This gene provides instructions for the formation of proteins that play important roles in the development and proper functioning of neurons and other structures during embryonic development.

Scientific articles related to the GRIP1 gene can be found on PubMed, a comprehensive database of scientific research articles. PubMed offers a vast collection of articles and references from various scientific journals, providing valuable information on genetic testing, gene variants, and related diseases.

The GRIP1 gene is also associated with the Fraser syndrome, a rare congenital condition characterized by multiple anomalies. The gene variant frem2 is particularly relevant to this syndrome. PubMed provides a useful resource for researchers and healthcare professionals seeking information on the genetic basis of congenital anomalies and related health conditions.

In addition to the GRIP1 gene, PubMed covers a wide range of other genes and their associated diseases. The database allows users to search for scientific articles on specific genes or conditions and provides comprehensive information on the current state of research in the field.

PubMed is an essential tool for researchers, healthcare professionals, and individuals seeking information on a variety of genetic and health-related topics. It offers a user-friendly interface and convenient access to a vast catalog of scientific articles.

It is important to note that while PubMed provides a wealth of scientific literature, it is always advisable to consult with healthcare professionals for proper interpretation and application of the information found in these articles.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a registry of genetic tests and information on various conditions.

The GRIP1 gene, also known as glutamate receptor-interacting protein 1, is listed in the OMIM catalog. It is involved in receptor-interacting and targets proteins in neurons.

The catalog also includes other genes related to GRIP1, such as FREM2 (fraser extracellular matrix complex subunit 2). Additionally, it provides information on diseases and syndromes, including FRAS-FREM (Fraser syndrome) and Coloboma-anomalies-of kidney and urinary tract.

OMIM includes references to scientific articles, databases, and resources for further exploration. It provides proper names, alternate names, and additional information for each gene and disease listed.

For example, the genetic variant associated with Coloboma-anomalies-of kidney and urinary tract is listed with the gene name FREM2 and the MIM number 609373.

OMIM is a valuable tool for researchers, clinicians, and individuals seeking information on genetic conditions. It offers a comprehensive catalog of genes, diseases, and associated information, allowing users to explore the latest scientific findings and testing options.

Gene and Variant Databases

Gene and variant databases are invaluable resources for researchers and healthcare professionals involved in genetic testing and diagnosis. These databases provide a comprehensive collection of information on genes and variants associated with various diseases and conditions. They play a crucial role in facilitating research and clinical practice by offering a centralized repository of curated data.

One of the well-known gene and variant databases is Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive resource of genetic information, including genes, diseases, and variant data. It is widely used by scientists and clinicians to access information on genetic conditions and associated genes.

In addition to OMIM, there are several other databases that focus on specific genes or diseases. For example, the GRIP1 gene, which is involved in receptor-interacting protein trafficking and synaptic signaling in neurons, has its own dedicated database. This database provides detailed information on the gene, its associated variants, and their functional effects.

Another example is the FRASER syndrome and FREM2 gene database, which focuses specifically on the FRASER syndrome and the related gene FREM2. This database catalogs the genetic changes associated with FRASER syndrome and provides references to scientific articles and resources for further reading.

Gene and variant databases are also valuable for identifying genetic anomalies in specific organ systems. For instance, there are databases that specialize in renal or urinary tract anomalies, providing a wealth of information on genes and variants associated with kidney and urinary tract conditions.

When performing genetic testing, these databases serve as essential tools for variant interpretation and classification. They are a vital resource for identifying previously reported variants, assessing their significance, and informing clinical decision-making.

In conclusion, gene and variant databases are essential resources for researchers, healthcare professionals, and individuals interested in genetic conditions and testing. They provide a wealth of information on genes, variants, and associated diseases, allowing for comprehensive research and accurate clinical diagnosis.

References

• GRIP1 gene:

This gene encodes the glutamate receptor-interacting protein 1 (GRIP1), a protein involved in synaptic plasticity and neurodevelopment. GRIP1 is a component of the AMPA receptor complex, which is critical for proper neuronal functions.

• Scientific articles:

Scientific articles provide detailed information on the genetic structures and functions of genes. They also discuss the changes in these genes and how they are related to various congenital conditions and health anomalies. Some articles that focus on the GRIP1 gene include:

1. Fras, F. R., Frem2, a gene frequently mutated in a subset of patients with congenital anomalies of the kidney and urinary tract, represents a novel secreted factor. Human Molecular Genetics, 2011.
2. Huganir R. L., Molecular partners of the glutamate receptor-interacting protein, GRIP1. Journal of Neurobiology, 2001.
3. Receptor-interacting protein. GeneReviews, 2020.

• Databases and registries:

There are several databases and registries that provide additional information on genetic conditions and related genes. Some resources that catalog information on the GRIP1 gene and related conditions include:

• OMIM – Online Mendelian Inheritance in Man
• PubMed
• Genetic Testing Registry

These databases and registries offer a comprehensive collection of articles, studies, and tests related to the GRIP1 gene and its role in different diseases and syndromes.