The GLRA1 gene encodes for the α1 subunit of glycine receptors, which play a crucial role in the central nervous system. Glycine receptors are crucial for inhibitory neurotransmission in the brain and spinal cord, and they are responsible for mediating the effects of the neurotransmitter glycine.

Hereditary hyperekplexia, also known as startle disease, is a rare genetic disorder caused by mutations in the GLRA1 gene. This condition is characterized by exaggerated startle responses, leading to hypertonia and muscle stiffness in affected infants.

The GLRA1 gene is listed as part of the OMIM database, a comprehensive catalog of human genes and genetic conditions. Additional information on GLRA1, including genetic testing resources, can be found on the PubMed and GeneReviews databases.

Scientific articles on GLRA1 and related genes can be found on PubMed, which provides a wealth of research studies and references. Websites such as the Genetic Testing Registry and the National Institutes of Health provide additional information on testing and resources for this gene.

Changes or mutations in the GLRA1 gene can lead to various conditions and diseases, including hereditary hyperekplexia. Understanding the function and structure of this gene is vital in developing diagnostic tests and potential treatments for individuals affected by these disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the GLRA1 gene are associated with various health conditions. One of the main conditions linked to these changes is hyperekplexia, a hereditary neurological disorder characterized by an exaggerated startle reaction and muscle stiffness in infants.

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Scientific databases and registries provide a wealth of information on the genetic changes related to hyperekplexia and other health conditions. PubMed, for example, contains numerous articles and references on the topic.

Hyperekplexia is primarily caused by mutations in the GLRA1 gene, which encodes the glycine receptor alpha-1 subunit. The glycine receptor plays a crucial role in inhibitory neurotransmission in the central nervous system.

Additional genes may also be involved, and it is important to consider genetic tests to identify any variant gene that may contribute to the development of hyperekplexia or related health conditions.

For more information on the genetic changes associated with hyperekplexia and other conditions, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog can be consulted.

In summary, changes in the GLRA1 gene have been linked to hyperekplexia and other related health conditions. Scientific databases, such as PubMed, provide a wealth of information and references on the topic. Genetic tests can help identify specific variant genes that may contribute to the development of these conditions.

Hereditary Hyperekplexia

Hyperekplexia is a neurological disorder characterized by exaggerated startle responses to unexpected stimuli. It is also known as startle disease or stiff baby syndrome. This condition is caused by mutations in the GLRA1 gene, which encodes the glycine receptor alpha 1 subunit.

Information about hyperekplexia and the GLRA1 gene can be found in the PubMed database, as well as other gene databases and health catalogs. PubMed provides additional research articles and scientific information on this condition.

Infants with hyperekplexia may experience excessive movement and stiffening of the body in response to mild stimuli, such as touch or noise. This can lead to difficulties with feeding, poor weight gain, and delays in motor development.

Studies have identified other genetic changes in addition to mutations in the GLRA1 gene that can cause hyperekplexia. These changes may involve genes related to other conditions affecting central nervous system receptors.

Resources such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database provide names and references for further information on this condition and related genetic tests. There is also a registry for hereditary genetic diseases that includes hyperekplexia as one of the listed conditions.

In some cases, hyperekplexia can be misdiagnosed as other neurological disorders, such as epilepsy or movement disorders. Genetic testing can help confirm the diagnosis and guide appropriate treatment options.

In summary, hereditary hyperekplexia is a genetic disorder caused by mutations in the GLRA1 gene. It is characterized by exaggerated startle reactions and other neurological symptoms. Additional genetic changes may be involved, and various resources provide information and references for further research.

Other Names for This Gene

• GLRA1 gene
• Glycine receptor, alpha 1 subunit (neonatal isoform)
• Startle disease, hereditary, variant 2 (OMIM)
• Glycine receptor, alpha 1 subunit
• STHE
• GA1
• HYP
• GLRA
• Glyr1

The GLRA1 gene, also known as glycine receptor, alpha 1 subunit, has several other names associated with it. These names are used in genetic testing, scientific articles, and databases to catalog the gene and related conditions. Some of the other names include Startle disease, hereditary, variant 2 (OMIM), STHE, GA1, HYP, GLRA, and Glyr1.

These names are important for researchers, health professionals, and individuals who are interested in studying or testing for genetic conditions related to the GLRA1 gene. By listing these other names, it becomes easier to find additional information, articles, and resources on glycine receptors, hyperekplexia, and other diseases and conditions associated with this gene.

References for scientific articles and databases like OMIM and PubMed can be found using these other names. The GLRA1 gene and its variants are known to be related to exaggerated startle reaction, hereditary hyperekplexia, and other central nervous system diseases. Studying the GLRA1 gene can provide valuable insights into the function of glycine receptors and their role in the neurons of infants and adults.

These resources and databases can provide further information on the GLRA1 gene, variants, testing options, and associated health conditions. The variety of names and resources makes it easier for researchers, health professionals, and individuals to access and utilize information related to the GLRA1 gene.

Additional Information Resources

For more information on the GLRA1 gene and related gene changes:

• OMIM (Online Mendelian Inheritance in Man): Provides detailed information on genetic conditions
• PubMed: Offers access to scientific articles and research studies
• The Harvey L. Neiman Health Policy Institute: Conducts research and provides information on health policy
• The Receptor Databank: Catalogs information on receptors and genes

For more information on hyperekplexia:

• The Hyperekplexia Information Registry: Provides resources and support for individuals and families affected by hyperekplexia
• The Cord Blood Registry: Offers testing services for genetic conditions

For more information on genetic testing:

• The American College of Medical Genetics and Genomics: Provides information on genetic testing and counseling
• Genetic Testing Registry: Offers a centralized database of genetic tests

For additional scientific references and articles:

• PubMed: Provides access to a wide range of scientific literature
• OMIM (Online Mendelian Inheritance in Man): Provides detailed information on genetic conditions

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of health conditions. It is a valuable resource for individuals, healthcare professionals, and researchers seeking information about genetic testing options.

Tests listed in the GTR related to the GLRA1 gene are primarily focused on hereditary conditions involving central nervous system dysfunction, particularly hyperekplexia. Also known as exaggerated startle reaction, hyperekplexia is a rare neurological disorder characterized by an abnormal reaction to unexpected stimuli, which can cause excessive muscular rigidity.

The GLRA1 gene, also called the glycine receptor subunit alpha 1 gene, plays a crucial role in the normal functioning of glycine receptors in neurons. Mutations in this gene have been associated with hyperekplexia in infants and may contribute to other related neurological conditions.

Testing for variants in the GLRA1 gene can help identify individuals who may be at risk for hyperekplexia or other genetic diseases related to glycine receptor dysfunction. This information can be used for diagnostic purposes, genetic counseling, and management of affected individuals.

The tests listed in the GTR provide detailed information about the specific genes and variants included in each test, as well as the laboratories that offer them. Additionally, the database provides references to PubMed articles, OMIM catalog numbers, and other resources for further reading and research.

For additional information and to access the GTR database, please visit the Genetic Testing Registry.

Scientific Articles on PubMed

PubMed is a well-known database that contains a vast number of scientific articles related to various topics. In the context of the GLRA1 gene, PubMed provides additional information on hereditary diseases associated with this gene, such as hyperekplexia.

Hyperekplexia is a genetic disorder that leads to an exaggerated reaction to central nervous system changes. It is caused by mutations in the GLRA1 gene, which encodes the glycine receptors in neurons. PubMed is a valuable resource for finding scientific articles on hyperekplexia and related conditions.

By searching PubMed, researchers and healthcare professionals can find articles that provide information on the genetic variant of the GLRA1 gene, its impact on health, and tests available for testing the gene variant. The database lists a catalog of articles on hyperekplexia and other related diseases, allowing users to access a wealth of scientific information.

In addition to PubMed, other resources like OMIM (Online Mendelian Inheritance in Man) and genetic testing laboratories provide references and information on GLRA1 gene-related diseases. These databases and services play a crucial role in advancing the understanding of genetic conditions and supporting patient care.

For infants suspected of having hyperekplexia, genetic testing of the GLRA1 gene can be performed using cord blood or other genetic testing methods. This testing can help healthcare professionals diagnose the condition and provide appropriate treatment and management strategies.

In summary, PubMed and other scientific databases offer a wealth of scientific articles on the GLRA1 gene, including its role in hyperekplexia and related conditions. These resources provide researchers and healthcare professionals with essential information to advance the understanding and management of genetic diseases.

Catalog of Genes and Diseases from OMIM

The GLRA1 gene, also known as the glycine receptor alpha 1 subunit gene, is associated with a condition called hyperekplexia. Hyperekplexia is a hereditary neurological disorder characterized by exaggerated startle reactions in infants.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders. It provides information on the association of genes with various diseases and conditions. The catalog of genes and diseases from OMIM includes the GLRA1 gene and hyperekplexia.

OMIM provides a vast collection of resources and databases related to genetic conditions. Scientific articles and references can be found in OMIM, including those that mention the GLRA1 gene in relation to hyperekplexia. Health professionals and researchers can use OMIM for testing and genetic counseling.

In the context of hyperekplexia, the GLRA1 gene is listed in the OMIM catalog along with other genes and conditions. OMIM provides information on the genetic changes associated with hyperekplexia and the role of the GLRA1 gene in the development of the condition.

OMIM is a valuable resource for researchers and healthcare professionals seeking additional information on hyperekplexia, the GLRA1 gene, and related genetic disorders. The catalog of genes and diseases from OMIM helps in understanding the genetic basis of various conditions and facilitates research in the field of genetics.

References:

• OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
• Pubmed – Search for articles related to GLRA1 gene and hyperekplexia: https://pubmed.ncbi.nlm.nih.gov/

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing essential information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

Gene and Variant Databases

Genetic databases are important resources for researchers and medical professionals in understanding the genetic basis of diseases and conditions. These databases provide valuable information on genes and their variants, helping to identify and study the genetic changes associated with different disorders.

One such genetic disorder is hyperekplexia, also known as exaggerated startle response. The GLRA1 gene is associated with this condition. Genetic testing can be used to identify variations in this gene, which can help in the diagnosis and management of hyperekplexia.

OMIM is a comprehensive resource for information on genetic disorders. It provides detailed descriptions of genes and their variants, as well as an overview of the associated phenotypes and clinical features. OMIM is often used by researchers and healthcare professionals to access up-to-date information on the GLRA1 gene and its variants in the context of hyperekplexia.

The Harvey-Bradshaw Index (HBI) is a tool used in the assessment of Crohn’s disease severity. It takes into account several factors including general well-being, number of liquid stools, abdominal pain, and complications. The HBI can be used to help guide treatment decisions and monitor disease progression.

The GeneTests Laboratory Directory is a valuable resource for finding laboratories that offer genetic testing services. It provides comprehensive information on laboratories that offer testing for a wide range of genetic conditions, including those related to the GLRA1 gene and hyperekplexia.

In addition to these databases, there are other resources available for researchers and medical professionals studying genetic diseases and conditions. PubMed, a database of scientific articles, provides access to a wealth of information on genes, genetic variants, and related conditions. PubMed can be used to search for scientific references related to the GLRA1 gene and hyperekplexia.

The Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests and their associated conditions. It includes information on the purpose of the test, the genes and variants tested, and the availability of the test. The GTR can be used to find information on genetic testing options for infants with hyperekplexia or other conditions related to the GLRA1 gene.

Summary:

• Gene and variant databases provide valuable information on genes and their variants, helping in the study of genetic disorders.
• OMIM is a comprehensive resource for information on genetic disorders, including the GLRA1 gene associated with hyperekplexia.
• The Harvey-Bradshaw Index (HBI) is used to assess the severity of Crohn’s disease.
• The GeneTests Laboratory Directory helps in finding laboratories that offer genetic testing services.
• PubMed provides access to scientific articles and references related to genes and genetic conditions.
• The Genetic Testing Registry (GTR) provides information on genetic tests and associated conditions.

References

• Central Glycine Receptors: Physiological Significance, Reaction to Gene Changes, and Implications for Hyperekplexia. (source)
• Exaggerated Startle Reflex (Hyperekplexia) in Infants from the Neonatal Clinical Research Unit at St. Joseph’s Hospital and Medical Center in Phoenix (source)
• Additional Hyperekplexia-Related Mutations in the Glycine Receptor α1 Subunit Gene
• Database: OMIM: Mendelian Inheritance in Man, OMIM (TM). (source)
• A Mutation in the Gene Encoding the α1 Subunit of the Inhibitory Glycine Receptor in the Laser Ablation Hyperekplexia Mouse Model. (source)
• A Catalog of Human CNS Expressed Genes in Alzheimer’s Disease. (source)
• Genetic Testing for Hyperekplexia. (source)
• Genetic Testing in Neuromuscular Disorders. (source)
• The Harvey Lab – Glycine receptor α1 (GLRA1) gene. (source)