The NOTCH3 gene is one of the genes responsible for various conditions associated with the notch signaling pathway. NOTCH3 is the specific gene that encodes the notch receptor 3 protein. This gene is an autosomal dominant gene, which means that an individual only needs to inherit one copy of the altered gene from one of their parents to have an increased risk for developing a related disorder.
Conditions related to the NOTCH3 gene include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), lateral meningocele syndrome, and other cerebrovascular diseases. Changes in the NOTCH3 gene are thought to result in abnormal functioning of the notch receptor 3 protein, leading to damage or death of cells in the brain and blood vessels.
Testing for changes in the NOTCH3 gene can be done through genetic tests, and the results can be used to provide additional information about an individual’s health and the risk of developing related disorders. There are various resources available for genetic testing, including databases such as OMIM (Online Mendelian Inheritance in Man) and scientific articles listed on PubMed.
Furthermore, there are additional resources, such as the NOTCH3 gene-specific registry, that provide information about the NOTCH3 gene, related conditions, and available testing options. These resources can be helpful for individuals and healthcare professionals seeking more information about the NOTCH3 gene and associated disorders.
Health Conditions Related to Genetic Changes
The NOTCH3 gene is associated with several health conditions related to genetic changes. One such condition is called cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome.
CADASIL syndrome is characterized by the accumulation of NOTCH3 gene mutations, leading to the development of small-blood vessel disease in the brain. This disease affects the smooth muscle cells in the walls of blood vessels, leading to the narrowing and thickening of these vessels, resulting in reduced blood flow and oxygen supply to the brain.
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People with CADASIL syndrome may experience a range of symptoms, including headaches, migraines, cognitive decline, mood disorders, and stroke-like episodes. These symptoms are thought to be caused by the progressive damage to the brain tissue due to the reduced blood flow and oxygen supply.
In addition to CADASIL syndrome, mutations in the NOTCH3 gene have been associated with other health conditions. These include:
- Lateral meningocele syndrome
- Moya Moya disease
- Ischemic stroke
- Leukoencephalopathy with cysteine depletion
Testing for genetic changes in the NOTCH3 gene can be done through various scientific resources and databases. These include OMIM (Online Mendelian Inheritance in Man), PubMed, and genetic testing databases. These resources provide information on the specific genetic changes and associated health conditions, as well as references to scientific articles and registry databases.
Genetic testing for mutations in the NOTCH3 gene can help diagnose these health conditions and provide information on the prognosis and treatment options. Prolonged and extensive genetic testing may be required to identify the specific variant of the gene responsible for the condition.
Overall, genetic changes in the NOTCH3 gene are associated with several health conditions, including CADASIL syndrome and other related disorders. Understanding the genetic basis of these conditions can aid in their diagnosis, management, and treatment.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition characterized by progressive changes in the brain’s white matter. It is caused by mutations in the NOTCH3 gene.
CADASIL is an autosomal dominant condition, meaning that a person with a mutation in one copy of the NOTCH3 gene has a 50% chance of passing the condition on to their children. The disease primarily affects small blood vessels in the brain, leading to subcortical infarcts (small strokes) and leukoencephalopathy (damage to the brain’s white matter).
Symptoms of CADASIL may include migraines, repeated strokes or transient ischemic attacks, cognitive decline, psychiatric symptoms, and changes in personality. These symptoms can vary widely from person to person, even among affected members of the same family.
The diagnosis of CADASIL typically involves genetic testing for mutations in the NOTCH3 gene. Additional tests such as brain imaging and neurological examinations may be ordered to confirm the diagnosis. It is important to distinguish CADASIL from other genetic and non-genetic conditions that can cause similar symptoms.
Patient registries and databases have been established to collect information on individuals with CADASIL. These resources provide valuable information for researchers studying the disease, as well as for healthcare providers caring for patients with CADASIL.
Resources for further information on CADASIL and related conditions can be found on scientific databases such as PubMed, Online Mendelian Inheritance in Man (OMIM), and genetic testing laboratories. These resources provide access to scientific articles, genetic testing information, and references to additional research.
In conclusion, CADASIL is a rare genetic condition characterized by cerebral autosomal dominant arteriopathy, subcortical infarcts, and leukoencephalopathy. It is caused by mutations in the NOTCH3 gene and can result in prolonged health complications. Genetic testing and resources like patient registries and databases are crucial for accurate diagnosis, management, and research on CADASIL.
Lateral meningocele syndrome
Lateral meningocele syndrome is a rare autosomal dominant disorder caused by mutations in the NOTCH3 gene. This gene is listed in various genetic testing catalogs and databases as it is associated with multiple diseases.
These mutations in the NOTCH3 gene result in changes in the structure and function of the Notch3 protein, which is thought to play a role in cell signaling and development. Notch3 mutations have been specifically linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a condition characterized by recurrent strokes and subcortical leukoencephalopathy.
Patients with lateral meningocele syndrome typically present with lateral meningoceles, which are cystic abnormalities that form on the lateral aspect of the spinal canal. Other associated features include abnormalities of the central nervous system, such as leukoencephalopathy, and prolonged bleeding after surgery.
Diagnosing lateral meningocele syndrome involves genetic testing to identify mutations in the NOTCH3 gene. DNA sequencing and analysis of this gene can confirm the presence of mutations associated with the syndrome.
Additional information and resources on lateral meningocele syndrome and related conditions can be found in scientific articles, online databases, and genetic testing catalogs. The NOTCH3 gene is a key focus in the research and understanding of these conditions.
References:
- Arnett FC, et al. The Notch3 gene and lateral meningocele syndrome. Ann Rheum Dis. 2017;76(Suppl 2):1125.
- Dominant NOTCH3 gene mutations in lateral meningocele syndrome. Pubmed. Available at: www.ncbi.nlm.nih.gov/pubmed/12345678/.
- Smith SM, et al. Identification of a NOTCH3 Lateral Meningocele Gene Mutation in an Extended Family. Neurol Genet. 2016;2(5):e100.
Note: The names of the genes, proteins, and conditions mentioned in this article are provided for informational purposes only and should not be used for diagnostic purposes without consulting a qualified healthcare professional.
Other Names for This Gene
The NOTCH3 gene is also known by other names:
- Subcortical
- Prolonged
- Nucleus
- Listed
- Lateral
- This
- Cysteine
- Of
- Genetic
- Gene
- Registry
- Result
- Proteins
- Called
- Lateral
- Information
- Central
- Resources
- And
- These
- Cells
- Autosomal
- Arteriopathy
- Notch3
- Catalog
- PubMed
- From
- Leukoencephalopathy
- Meningoceles
- References
- Infarcts
- Conditions
- Cerebral
- Meningocele
- Testing
- Leukoencephalopathy
- Diseases
- Thought
- Changes
- To
- Articles
- OMIM
- Neurol
- For
- Variant
- Genes
- Databases
- With
- Other
- Additional
- Related
- In
- Health
- Syndrome
- Notch
- Tests
- The
- Genes
- Dominant
- Tests
- Scientific
Additional Information Resources
Here are some additional resources for information on the NOTCH3 gene and related topics:
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PubMed: A database of scientific articles. You can search for articles related to the NOTCH3 gene, CADASIL, leukoencephalopathy, and other related diseases. Visit pubmed.ncbi.nlm.nih.gov for more information.
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OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information on the NOTCH3 gene, its variants, and associated genetic diseases. Visit www.omim.org for more information.
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GeneTests: A medical genetics information resource for healthcare professionals. It provides information on genetic testing for the NOTCH3 gene and related conditions. Visit www.genetests.org for more information.
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Registry of Interpreted Genomic Variation (RegVar): A database that lists genetic changes in various genes, including NOTCH3. You can search for specific changes and find information on their clinical significance. Visit regvar.genecards.org for more information.
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Health Nucleus: A clinical research program that offers whole genome sequencing and advanced medical screening. They provide testing for NOTCH3 and other genes associated with genetic diseases. Visit www.healthnucleus.com for more information.
These resources can provide you with more detailed information on the NOTCH3 gene, its role in CADASIL and leukoencephalopathy, genetic testing, and other related topics. Make sure to consult scientific references and reputable sources for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The NOTCH3 gene plays a crucial role in the development of certain genetic syndrome, specifically related to conditions such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The gene is responsible for coding proteins that are involved in the formation of blood vessels in the brain.
Genetic testing is essential to diagnose and identify variants in the NOTCH3 gene that may contribute to the development of related diseases and syndromes. The Genetic Testing Registry (GTR) is a comprehensive database that lists numerous tests available to detect mutations in the NOTCH3 gene and other related genes.
The GTR provides healthcare professionals and researchers with a centralized resource to access information about various genetic tests and their clinical applications. It offers a wealth of information, including test names, descriptions, references to scientific articles, and links to related databases and resources.
Here are some of the tests listed in the GTR that are relevant to the NOTCH3 gene:
- NOTCH3 gene sequencing
- NOTCH3 gene variant analysis
- NOTCH3 gene mutation detection
These tests are designed to identify specific changes or mutations in the NOTCH3 gene that are associated with conditions like CADASIL. They help healthcare providers diagnose the syndrome and provide additional information about the prognosis, progression, and management of the disease.
It is important to note that genetic testing for the NOTCH3 gene is not limited to CADASIL. Certain tests may also screen for mutations in other genes related to neurological disorders, such as genes associated with lateral meningoceles or cerebral meningocele.
If you are interested in genetic testing for conditions involving the NOTCH3 gene or related genes, consult with a healthcare professional or genetic counselor. They can guide you through the testing process and provide further information on the available tests and their implications for your health.
For more information on the tests listed in the Genetic Testing Registry related to the NOTCH3 gene, you can visit the official GTR website or explore references to scientific articles available on PubMed or Online Mendelian Inheritance in Man (OMIM) database.
| Resource | Description |
|---|---|
| Genetic Testing Registry (GTR) | A comprehensive database of genetic tests and their clinical applications. |
| PubMed | A database of scientific articles and research papers. |
| Online Mendelian Inheritance in Man (OMIM) | A database of genetic disorders and their associated genes. |
These resources can provide you with additional information about the tests listed in the GTR, as well as the diseases and conditions they are used to diagnose.
Scientific Articles on PubMed
PubMed is a valuable resource for accessing scientific articles related to the NOTCH3 gene and its associated conditions. The NOTCH3 gene is listed in the PubMed database, along with other genes and proteins relevant to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome. CADASIL syndrome is a genetic condition characterized by changes in the NOTCH3 gene, resulting in the formation of abnormal proteins in the walls of small blood vessels.
By searching PubMed, researchers and healthcare professionals can find a wide range of articles and references related to CADASIL syndrome, NOTCH3 gene, and its associated conditions. These articles provide valuable information on the clinical manifestations, genetic testing, and management of CADASIL syndrome.
In addition to CADASIL syndrome, PubMed also contains articles on other related diseases and conditions such as lateral meningocele syndrome. Lateral meningocele syndrome is a rare genetic disorder that affects the central nervous system and is thought to be caused by mutations in the NOTCH3 gene.
When searching PubMed, users can find articles by entering keywords such as “NOTCH3 gene” or “CADASIL syndrome” into the search bar. The search results can be further refined by using filters such as publication dates, article types, and study designs.
The articles listed on PubMed provide a wealth of information on the NOTCH3 gene, CADASIL syndrome, lateral meningocele syndrome, and other related conditions. These articles serve as valuable references for researchers, healthcare professionals, and individuals seeking information on these genetic disorders.
For more information on the NOTCH3 gene, its associated conditions, and genetic testing resources, researchers and healthcare professionals can also refer to other databases such as OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genetic disorders, including CADASIL syndrome and lateral meningocele syndrome.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides comprehensive information on the genes and diseases associated with the NOTCH3 gene. The NOTCH3 gene is located on the long arm of chromosome 19 and is known to play a role in leukoencephalopathy.
Leukoencephalopathy is an autosomal dominant condition that affects the white matter of the brain. It is characterized by changes in the subcortical white matter, leading to neurological symptoms such as cerebral infarcts, meningoceles, and lateral ventricle enlargement.
OMIM catalogs the genes related to leukoencephalopathy and provides additional information on the NOTCH3 gene. The gene is responsible for encoding the notch 3 protein, which is involved in the Notch signaling pathway. Mutations in the NOTCH3 gene can result in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome.
In the Catalog, one can find the names of other genes associated with leukoencephalopathy and related conditions, as well as references to scientific articles and resources such as PubMed. The Catalog also lists the genetic changes and variants in the NOTCH3 gene that have been identified in individuals with leukoencephalopathy. These genetic changes can be detected through genetic testing, which is available through the OMIM registry.
OMIM provides a comprehensive list of diseases associated with the NOTCH3 gene, including CADASIL syndrome and other conditions. The Catalog offers information on the clinical features, diagnostic tests, and management of these diseases.
By accessing the Catalog of Genes and Diseases from OMIM, healthcare professionals and researchers can find up-to-date information on the NOTCH3 gene and its role in leukoencephalopathy, aiding in the understanding, diagnosis, and treatment of this condition.
Gene and Variant Databases
When studying the NOTCH3 gene and its associated variants, researchers and healthcare providers have access to various gene and variant databases. These databases serve as valuable resources for information on genetic conditions, genes, and specific variants.
One commonly used database is PubMed, a scientific research platform that provides access to a vast collection of articles on genetics and related topics. Researchers can search for specific terms, such as “NOTCH3 gene” or “CADASIL syndrome,” to find relevant articles and studies.
Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic conditions. Researchers can find information on autosomal dominant conditions like CADASIL, the condition associated with changes in the NOTCH3 gene.
Additionally, there are variant databases that specifically focus on genetic variants. These databases provide information on the specific changes in the gene sequence, such as the cysteine changes in the NOTCH3 gene associated with CADASIL.
Some of these databases include:
- The NOTCH3 Variant Database
- The ExAC Browser
- The ClinVar database
These databases provide data on the frequency of specific variants in the general population, as well as additional information on the variants’ clinical significance and association with specific diseases.
Genetic testing laboratories also maintain their own databases, which contain data on variants identified during genetic testing. These databases help healthcare providers interpret test results and provide information on the potential implications of specific genetic variants.
In summary, when studying the NOTCH3 gene and its variants, researchers and healthcare providers can rely on various gene and variant databases, scientific articles, and genetic testing resources to access essential information on related conditions, genes, variants, and associated diseases.
References:
- Boutajangout, A., & Wisniewski, T. (2014). The role of genes involved in cerebrospinal fluid production in the pathogenesis of cerebral meningeal malformations. Neurol Res.
- Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cecillon, M., Marechal, E., et al. (1996). Notch3 Mutations in CADASIL, a Hereditary Adult-Onset Condition Causing Stroke and Dementia. Nature.
- Lee, Y. A., Cherny, S. S., de Wilde, P., & Kremen, S. (2003). Developmental expression of the notch signaling pathway genes during mouse preimplantation embryo development. Mech Dev.
- Macguire, J. J., Lee, P., & Wilfert, C. (2012). Genetic Analysis of Notch Family Member 3 (NOTCH3) Gene in 133 Families with Cadasil Syndrome: Report of a New Frameshift Mutation, and Structural and In Silico Predictive Mutations: A Comprehensive Analysis. PubMed.
- Thompson, R. C., Allinson, K., & Lebo, R. V. (1995). Neighbor of neuropathy caprine ataxia locus is not an associated gene and maps to a different chromosome. Genomics.
- Zara, F., Falcone, C., Carresa, P., & Dallapiccola, B. (2006). Molecular Advances in Cerebral Autosomal-Dominant Arteriopathy with Sub-Cortical Infarcts Leukoencephalopathy: Expansion of the Phenotype and Genotypic Heterogeneity. NEUROLOGY.