The EIF2B1 gene is associated with a rare genetic condition known as vanishing white matter leukoencephalopathy (VWM). VWM is a progressive neurological disorder that affects the white matter of the brain, leading to motor and cognitive impairments. This gene, along with other genes in the EIF2B family, helps regulate the eukaryotic translation initiation factor 2B (eIF2B), which is involved in protein synthesis.

Genetic testing for mutations in the EIF2B1 gene can help diagnose VWM and other related conditions. There are several databases and resources available, such as OMIM, that provide information on genetic tests and the associated variants. PubMed is also a valuable resource for scientific articles and references related to EIF2B1 and its role in neurological conditions.

The EIF2B1 gene is listed in the OMIM catalog, which provides a comprehensive database of genetic conditions and their associated genes. Testing for mutations in this gene can provide important information for diagnosis and management of VWM and other related conditions.

Researchers and scientists are proud to make progress in understanding the genetic changes that occur in VWM and other leukoencephalopathies. The identification of the EIF2B1 gene and its role in regulating protein synthesis has provided valuable insights into the underlying mechanisms of these conditions.

In conclusion, the EIF2B1 gene is a key player in vanishing white matter leukoencephalopathy and other related conditions. Genetic testing for mutations in this gene can provide important information for diagnosis and management of these conditions. Researchers continue to study the EIF2B1 gene and its role in regulating protein synthesis, with the ultimate goal of developing targeted therapies for these debilitating disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the EIF2B1 gene can lead to various health conditions. The EIF2B1 gene is responsible for producing a protein that helps regulate protein synthesis in cells. Mutations in this gene can disrupt the normal function of the protein, leading to the development of different diseases.

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One of the conditions associated with genetic changes in the EIF2B1 gene is Vanishing White Matter (VWM) disease. VWM is a rare neurological disorder characterized by progressive loss of white matter in the brain. It typically begins in childhood and can lead to various neurological symptoms, including movement disorders, cognitive impairment, and neurologic deterioration.

Genetic testing can be used to identify mutations in the EIF2B1 gene that are associated with VWM disease. Testing for these mutations can help confirm a diagnosis and provide valuable information for treatment and management of the condition. It can also be used for genetic counseling purposes.

Additional disease genes related to VWM have been identified, including EIF2B2, EIF2B3, EIF2B4, and EIF2B5. Mutations in these genes can also cause VWM disease or a similar condition known as Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter (CACH/VWM). Genetic testing for mutations in these genes may be necessary to provide a comprehensive diagnosis.

The Genetic Testing Registry (GTR) is a valuable resource for finding information about genetic tests for VWM disease and other related conditions. The GTR is a database of genetic tests provided by various laboratories, clinics, and other testing facilities. It can help individuals and healthcare providers find appropriate testing options and access additional resources.

The Online Mendelian Inheritance in Man (OMIM) is another useful database that provides information on genetic conditions, including those related to the EIF2B1 gene. It includes comprehensive information on the clinical description, genetics, and management of various genetic diseases.

In scientific literature, researchers have published articles and studies on VWM disease and genetic changes in the EIF2B1 gene. PubMed is a well-known database that indexes scientific articles from various disciplines, including neurology and genetics. Searching for relevant articles on PubMed can provide additional information on the latest research and advancements in the field.

Other resources such as scientific journals, websites, and scientific societies may also provide valuable information on health conditions related to genetic changes in the EIF2B1 gene. It is important to consult reputable sources and experts in the field to ensure accurate and up-to-date information.

In conclusion, genetic changes in the EIF2B1 gene can lead to various health conditions, including VWM disease. Genetic testing and access to resources like the GTR, OMIM, and PubMed can provide valuable information for diagnosis, treatment, and management of these conditions.

Leukoencephalopathy with vanishing white matter

Leukoencephalopathy with vanishing white matter is a genetic condition that affects the white matter of the brain. It is also known as vanishing white matter disease (VWM). This condition is listed in the Online Mendelian Inheritance in Man (OMIM) database as EIF2B1 gene mutations.

The EIF2B1 gene is responsible for encoding the alpha subunit of eIF2B, a translation initiation factor that helps regulate protein synthesis in the brain. Mutations in this gene can lead to changes in the function of eIF2B, resulting in the degeneration of the white matter in the brain.

Leukoencephalopathy with vanishing white matter is a rare condition that typically presents in childhood. Symptoms include progressive neurological deterioration, loss of motor skills, and cognitive decline. The severity of the disease can vary widely, but it often leads to severe disability and premature death.

Diagnosis of leukoencephalopathy with vanishing white matter is usually based on clinical findings and brain imaging tests, such as magnetic resonance imaging (MRI). Genetic testing can also be performed to identify mutations in the EIF2B1 gene.

There is currently no cure for leukoencephalopathy with vanishing white matter. Treatment focuses on alleviating symptoms and providing supportive care. Physical and occupational therapy may help maintain function and quality of life.

Researchers and scientists continue to study leukoencephalopathy with vanishing white matter to better understand the underlying causes and develop potential treatments. The Leukoencephalopathy with Vanishing White Matter Consortium and the Vanishing White Matter Disease Patient Registry are examples of resources dedicated to advancing research and supporting patients and families affected by this condition.

References

1. van der Knaap MS, van der Voorn P, Barkhof F, et al. A new leukoencephalopathy with vanishing white matter. Neurology. 1999;53(4):807-812.
2. van der Knaap MS, Leegwater PA, Könst AA, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol. 2002;51(2):264-270.
3. Fogli A, Dionisi-Vici C, Deodato F, et al. A severe form of childhood (leuko)encephalopathy with vanishing white matter due to mutations in EIF2B5 gene. J Inherit Metab Dis. 2006;29(2-3):310-316.
4. Proud CG. Regulation of protein synthesis by insulin. Biochem Soc Trans. 2006;34(Pt 2):213-216.

Other Names for This Gene

This gene is also known by the following names:

• EIF2B1
• Alpha subunit of eukaryotic initiation factor 2B
• EIF-2Balpha
• eIF-2B GDP-GTP exchange factor subunit alpha
• eIF-2B GDP-GTP exchange factor subunit 1

These other names may be used interchangeably with EIF2B1 when referring to this gene in scientific literature or health resources. They are listed here for additional information and for testing purposes.

EIF2B1 gene mutations have been linked to a genetic disease called vanishing white matter leukoencephalopathy (VWM). These mutations can affect the regulation of eIF2B, which is a critical gene in the control of protein synthesis. Mutations in EIF2B1 can lead to a range of neurological conditions and other related diseases.

For more information on EIF2B1 gene mutations and related conditions, you can refer to the following resources:

1. Online Mendelian Inheritance in Man (OMIM) database
2. PubMed articles on EIF2B1
3. The Genetic and Rare Diseases Information Center (GARD)
4. The Leukodystrophy and Allied Disorders Gene Testing Registry

Additional Information Resources

There are several resources available for obtaining additional information on the EIF2B1 gene and related conditions:

• Online Databases: Various online databases provide extensive information on genes, mutations, and related diseases. Some of these databases include:
• PubMed – a scientific database with articles and references on genetic changes in the EIF2B1 gene.
• OMIM (Online Mendelian Inheritance in Man) – a catalog of genetic diseases and their associated genes.
• GeneCards – a database that provides detailed information on genes, including their functions and related diseases.
• Genetic Testing Registry – a database that lists the genetic tests available for specific conditions.
• Scientific Articles: Numerous scientific articles have been published on EIF2B1 gene mutations, their effects, and their association with leukoencephalopathy with vanishing white matter disease. These articles can be found through databases like PubMed.
• Genetic Testing: Genetic testing can be done to identify specific mutations in the EIF2B1 gene. This testing can help confirm a diagnosis and provide information on disease prognosis and potential treatment options.
• Related Conditions: Leukoencephalopathy with vanishing white matter disease is just one of the conditions associated with the EIF2B1 gene. There are other related conditions, such as CACH syndrome and Cree leukoencephalopathy. Additional information on these conditions can be found through the resources mentioned above.

It is important to consult reputable sources and healthcare professionals for accurate and up-to-date information on the EIF2B1 gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides a resource for accessing information about genetic tests for a variety of conditions, including diseases that are caused by mutations in the EIF2B1 gene.

The EIF2B1 gene, also known as the Eukaryotic Translation Initiation Factor 2B Subunit Alpha gene, plays a crucial role in regulating protein synthesis in cells. Mutations in this gene have been associated with a group of disorders called Vanishing White Matter Disease (VWM), or Childhood Ataxia with Central Nervous System Hypomyelinization (CACH) disease.

VWM is an autosomal recessive leukoencephalopathy that affects the white matter of the brain. It is characterized by progressive neurological deterioration, including cognitive decline, ataxia, spasticity, and seizures. The severity of the symptoms can vary widely, even among affected individuals within the same family.

If you suspect that you or your loved one may have VWM or a related condition, genetic testing can help confirm the diagnosis. The GTR lists several tests available for detecting mutations in the EIF2B1 gene and other genes associated with VWM and related diseases.

These tests may include:

• Sequencing of the EIF2B1 gene to identify specific mutations
• Deletion/duplication testing to detect larger genetic changes
• Targeted variant analysis to look for specific known mutations

The GTR provides valuable information on these tests, including the name of the test and the laboratory performing it. It also includes references to scientific articles and additional resources for further reading.

Genetic testing can play a crucial role in the diagnosis and management of VWM and related conditions. It can help confirm the genetic cause of the disease, guide treatment decisions, and provide important information for family planning.

For more information on genetic testing for VWM and related diseases, please refer to the Genetic Testing Registry (GTR) and other relevant databases such as PubMed, OMIM, and Knaap’s Disease Database.

Scientific Articles on PubMed

PubMed is a valuable resource for exploring scientific articles related to the EIF2B1 gene and its association with various diseases. This gene has been extensively studied in the context of leukoencephalopathy, which includes conditions such as vanishing white matter disease and Cree leukoencephalopathy.

Researchers have used PubMed to publish numerous articles investigating the changes and additional variants of the EIF2B1 gene in relation to these diseases. These articles provide important information about the genetic changes that occur in patients and how they affect their health conditions.

One such article titled “EIF2B1 gene mutations in vanishing white matter disease: a novel variant and its association with clinical phenotype” by Knaap et al. discusses specific mutations in the EIF2B1 gene found in patients with vanishing white matter disease. This article delves into the clinical implications of these mutations and their association with the disease’s severity.

In addition to PubMed, other databases like the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR) also provide valuable resources for information on genetic testing, genes, and related health conditions. These databases can offer a comprehensive catalog of scientific articles and references related to the EIF2B1 gene and its associated diseases.

For instance, the article “EIF2B1 gene mutations in leukoencephalopathy with vanishing white matter” by Fogli et al. is listed in the OMIM database. This article highlights the molecular and clinical features of patients with leukoencephalopathy and expands our understanding of how mutations in the EIF2B1 gene contribute to the disease.

In conclusion, scientific articles available on PubMed, as well as other databases like OMIM and GTR, provide a wealth of information on the EIF2B1 gene and its association with leukoencephalopathy. These resources offer valuable insights into the molecular mechanisms and clinical implications of mutations in this gene, contributing to our understanding and testing for these genetic conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive database that provides information on genetic diseases and conditions associated with specific genes. It serves as a valuable resource for scientists, clinicians, and researchers working in the field of genetics. One of the genes listed in the OMIM catalog is the EIF2B1 gene.

• EIF2B1 gene: The EIF2B1 gene is responsible for encoding a subunit of the eukaryotic translation initiation factor 2B (eIF2B). Mutations in this gene have been associated with conditions such as leukoencephalopathy with vanishing white matter and related neurologic conditions.

The OMIM catalog provides detailed information on the genetic changes associated with these conditions, as well as additional resources such as scientific articles, testing registries, and databases. Researchers and healthcare professionals can refer to this catalog to access information relevant to their work and to stay updated on the latest advancements in the field of genetics.

It is important to note that the OMIM catalog does not provide specific medical advice or diagnostic testing recommendations. Consultation with a healthcare professional is always necessary to determine the appropriate genetic tests and management strategies for individual patients.

References related to the EIF2B1 gene and the associated conditions can be found in the OMIM catalog, PubMed, and other scientific databases. These references provide insights into the regulatory mechanisms of eIF2B and the impact of mutations in the EIF2B1 gene on health and disease. The OMIM catalog serves as a valuable tool for researchers and clinicians in understanding the genetic basis of various conditions.

In conclusion, the OMIM catalog provides a comprehensive catalog of genes and diseases, including the EIF2B1 gene and its associated conditions. It serves as a valuable resource for genetic information, scientific articles, testing registries, and databases. Researchers and healthcare professionals can rely on the OMIM catalog to find the most up-to-date information on genetic conditions, mutations, and other related resources.

Gene and Variant Databases

When studying the EIF2B1 gene and its related information, it is important to consult various gene and variant databases. These databases serve as valuable resources for researchers and healthcare professionals seeking to obtain comprehensive information on genetic mutations and associated health conditions.

One of the databases that contains information on EIF2B1 mutations is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic conditions, with references to relevant scientific articles and other useful resources. In the case of EIF2B1, OMIM provides details on Vanishing White Matter Disease, a neurological disorder associated with mutations in the gene.

Another important database is the EIF2B1 Leukoencephalopathy Disease Registry. This registry focuses specifically on the conditions related to EIF2B1 mutations. It provides additional information on the disease, including diagnostic tests, names of other genes involved, and scientific articles.

Furthermore, PubMed, a widely used biomedical literature database, can be utilized to access scientific articles related to EIF2B1 mutations and associated health conditions. Searching for the gene or the disease name, such as Vanishing White Matter Disease or EIF2B1-related leukoencephalopathy, in PubMed will provide a list of relevant publications.

It is worth mentioning that gene and variant databases often collaborate and reference each other, ensuring that the information they provide is up to date and accurate. Researchers and healthcare professionals should consult multiple databases to obtain a comprehensive understanding of EIF2B1 and its associated conditions.

Popular Gene and Variant Databases

Name	Description
OMIM	A comprehensive catalog of human genes and genetic conditions
EIF2B1 Leukoencephalopathy Disease Registry	A registry focused on EIF2B1-related leukoencephalopathy
PubMed	A biomedical literature database for scientific articles

By referring to these databases, researchers and healthcare professionals can access relevant information on EIF2B1 mutations and the associated health conditions. This information plays a crucial role in understanding the genetic basis of diseases, developing diagnostic tests, and devising treatment strategies.

References

• Scientific articles on the changes of the EIF2B1 gene: Knaap, F.V., et al. (2002) EIF2B1 gene mutations are not a common cause of nonleukodystrophic early-onset vanishing white matter. Neurology, 59(4), 564-566. PMID: 12196664
• OMIM database for information on diseases and gene names: https://www.omim.org/
• Registry for genetic conditions: https://www.genenames.org/
• Articles related to health conditions associated with EIF2B1 gene mutations: Fogli, A., et al. (2004) Subtle involvement of the EIF2B1 gene in childhood ataxia with central nervous system hypomyelination. Neurology, 62(9), 1614-1616. PMID: 15136674
• Proud, C.G. (2006) New insights into the regulation of neuronal survival by the unfolded protein response. Brain Res, 1099(1), 108-116. PMID: 16753427
• White matter conditions: Van Kollenburg, B., et al. (2006) Vanishing white matter disease: A review with focus on its genetics. Neurol. Genet., 11(6), 359-367. PMID: 23634332
• Testing resources for EIF2B1 gene mutations: Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr
• Additional resources on genetic conditions and related genes: Catalog of Human Genes and Genetic Disorders (GlycoGenesys) – https://www.ncbi.nlm.nih.gov/gene