STIM1 gene – Austra Health

The STIM1 gene is a genetic resource that plays a crucial role in the health of cells and cellular processes. It is associated with a condition called myopathy, which is a muscle disorder. Mutations in the STIM1 gene have been listed as one of the causes of this disorder.

The STIM1 gene is part of a larger network of genes and proteins, including the ORAI1 gene. These genes work together to regulate the flow of ions in and out of cells, which is essential for proper cellular function. When there are mutations in the STIM1 gene, these ion channels may not work properly, leading to cellular dysfunction and the development of diseases.

Research has shown that mutations in the STIM1 gene can cause a variety of disorders. One such disorder is stormorken syndrome, which is characterized by abnormal changes in the membrane of certain cells. This condition can cause a range of symptoms, including muscle weakness and abnormal aggregates of proteins in the muscle cells.

To understand the role of the STIM1 gene in disease, scientists have turned to scientific databases such as OMIM and PubMed to gather information from published articles and references. These sources provide valuable insights into the function of the STIM1 gene and its potential implications for various conditions.

Further testing and research are needed to fully understand the impact of STIM1 gene mutations on human health. As more studies are conducted, additional names and associated conditions may be identified. The STIM1 gene is just one piece of the genetic puzzle that continues to be unraveled, with the hope of improving diagnosis and treatment for individuals with related disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the STIM1 gene have been found to be associated with various health conditions. The STIM1 gene plays a role in cellular functions such as the regulation of calcium ions in the body.

One health condition related to genetic changes in the STIM1 gene is tubular aggregate myopathy. This condition is characterized by abnormal aggregates of proteins in muscle cells. It can be associated with mutations in the STIM1 gene or other genes, such as ORAI1.

The STIM1 gene has also been associated with Stormorken syndrome, a rare genetic disorder. This syndrome affects various organ systems in the body, leading to symptoms such as abnormal bleeding tendencies and thrombocytopenia.

Genetic changes in the STIM1 gene have been identified through scientific studies, and information about these changes can be found in databases and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other resources can provide further information about the role of the STIM1 gene in these health conditions.

Testing for genetic changes in the STIM1 gene can be done to confirm a diagnosis or assess the risk of developing these health conditions. Genetic testing can identify specific variants or mutations in the gene that are associated with the disorders listed above.

In summary, genetic changes in the STIM1 gene have been found to be associated with health conditions such as tubular aggregate myopathy and Stormorken syndrome. Further research and testing are needed to better understand the role of this gene in these conditions and develop effective treatments.

Stormorken syndrome

Stormorken syndrome is a rare autosomal dominant disorder caused by mutations in the STIM1 gene. It is characterized by a variety of symptoms that can affect different parts of the body.

Overview and Symptoms

Stormorken syndrome affects various organs and tissues including stromal cells, platelets, and skeletal muscles.
Patients with Stormorken syndrome often exhibit a combination of symptoms including a bleeding disorder, musculoskeletal abnormalities, and a typical ocular appearance.
Other common symptoms include abnormalities in platelet function, myopathy, tubular aggregate myopathy, and megakaryocyte abnormalities.

Genetic Mutation and Inheritance

Stormorken syndrome is caused by mutations in the STIM1 gene, which plays a crucial role in cellular calcium homeostasis.
These mutations are thought to disrupt the normal function of the STIM1 protein, leading to abnormal cellular responses.
Stormorken syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutation to each of their children.

Diagnosis and Testing

The diagnosis of Stormorken syndrome is usually based on clinical findings, genetic testing, and laboratory tests.
Genetic testing can identify specific mutations in the STIM1 gene that are associated with the syndrome.
Laboratory tests may include blood tests to evaluate platelet function and muscle biopsies to identify tubular aggregates.

Treatment and Management

There is currently no cure for Stormorken syndrome. Treatment focuses on managing the symptoms and complications associated with the disorder.
Treatment approaches may include medications to control bleeding disorders, physical therapy for muscle weakness, and regular medical monitoring to manage potential complications.

Research and Resources

Additional research is ongoing to better understand the underlying mechanisms and develop potential treatments for Stormorken syndrome.
Several scientific articles and studies have been published on this condition, providing valuable information for medical professionals and researchers.
Resources such as OMIM (Online Mendelian Inheritance in Man) and genetic databases can provide additional information on Stormorken syndrome and related genetic disorders.

Tubular aggregate myopathy

Tubular aggregate myopathy is a rare genetic condition characterized by the formation of abnormal cylindrical structures, called tubular aggregates, within muscle cells. These aggregates are composed of proteins and ions that are thought to play a role in cellular signaling and muscle contraction.

The condition is caused by mutations in the STIM1 gene, which is part of the stromal interaction molecule (STIM) family of genes. The STIM1 gene codes for a protein that stimulates the entry of calcium ions into cells, triggering a cascade of biochemical changes that are necessary for proper muscle function.

Tubular aggregate myopathy can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant tubular aggregate myopathy is associated with mutations in the STIM1 gene, while autosomal recessive tubular aggregate myopathy is associated with mutations in a related gene called ORAI1.

Individuals with tubular aggregate myopathy may experience muscle weakness, cramps, and stiffness. They may also have difficulty with running, climbing stairs, and other activities that require strength and mobility. Additional symptoms may vary depending on the specific genetic variant involved.

Diagnosis of tubular aggregate myopathy may be made based on the presence of tubular aggregates in muscle biopsy samples. Genetic testing can also be done to confirm the diagnosis and identify specific mutations in the STIM1 or ORAI1 genes.

There is currently no specific treatment for tubular aggregate myopathy. Management of the condition typically focuses on relieving symptoms and improving quality of life. Physical therapy and assistive devices may be recommended to help individuals maintain mobility and function. Genetic counseling may also be helpful for affected individuals and their families.

For additional information on tubular aggregate myopathy, related disorders, and the STIM1 gene, the following resources may be helpful:

OMIM (Online Mendelian Inheritance in Man) catalog: Listing of tubular aggregate myopathy and related conditions
Scientific articles listed on PubMed: Research articles on tubular aggregate myopathy and the STIM1 gene
Databases and registry listings for rare genetic conditions: Sources of information and support for individuals and families affected by tubular aggregate myopathy

Other Disorders

The STIM1 gene is also associated with several other disorders, some of which are:

Stormorken syndrome: This condition is characterized by abnormal bleeding tendencies and thrombocytopathy. Mutations in the STIM1 gene have been found in individuals with Stormorken syndrome, which is also associated with myopathy and tubular aggregate myopathy.
Thrombocytopenia: Certain STIM1 gene mutations have been linked to thrombocytopenia, a condition characterized by low platelet count in the blood.
Immunodeficiency: Some individuals with mutations in the STIM1 gene may develop immunodeficiency, making them more susceptible to infections.
Myopathy: Mutations in the STIM1 gene can cause myopathy, a muscular disorder characterized by muscle weakness and wasting. This condition can be present with or without tubular aggregate myopathy.
Orai1 gene mutations: STIM1 and Orai1 are two closely related genes that play a crucial role in calcium signaling in cells. Mutations in both genes can result in similar disorders, including myopathy and immunodeficiency.
Other calcium channelopathies: STIM1 gene mutations can lead to other calcium channelopathies, including tubular aggregates myopathy and Stormorken syndrome. These conditions are characterized by localized changes in cellular calcium levels and abnormal accumulation of calcium-storing proteins in cells.

Other Names for This Gene

The STIM1 gene is also known by several other names in various scientific databases and resources. Some of these alternative names include:

ORAI1, for the protein that it encodes
GOK, for the gene symbol used in the Human Gene Nomenclature Committee (HGNC) database
CRACM1, short for “calcium release-activated calcium modulator 1”
D4S1424, a term used in genetic linkage analysis
E6V, which refers to a specific genetic variant or mutation in the gene
DHM2, which stands for “Dehydrated Hereditary Stomatocytosis 2”, a disorder associated with STIM1 gene mutations
TMD4, short for “Tubular aggregate myopathy 4”, another disorder linked to mutations in STIM1

The STIM1 gene plays a crucial role in calcium ion regulation within cells. When the level of calcium ions in the endoplasmic reticulum (ER) decreases, STIM1 is activated and triggers the influx of calcium ions from the extracellular space into the cell. This process is necessary for various cellular functions.

Scientists have discovered that mutations in the STIM1 gene can lead to various diseases and disorders. For example, mutations in STIM1 are associated with tubular aggregate myopathy (TAM), a rare genetic muscle disorder. Other disorders related to STIM1 mutations include stormorken syndrome and Dehydrated Hereditary Stomatocytosis 2 (DHM2).

Information about STIM1 and its associated diseases can be found in various scientific databases and resources, such as PubMed, OMIM, and GENETICS Home Reference. These resources provide valuable information about the gene, related disorders, and ongoing research in the field.

Additional scientific articles and research papers can be accessed through these databases, offering more in-depth information about the function of STIM1, the role of related genes and proteins, and changes that occur in cellular conditions due to this gene’s mutation.

In summary, the STIM1 gene, also known as ORAI1, plays a critical role in cellular calcium ion regulation. Mutations in this gene are associated with various disorders, including muscle myopathies and syndromes. Scientists continue to study the STIM1 gene to understand its function, associated diseases, and potential therapeutic targets.

Additional Information Resources

Here is a list of additional resources for further information on the STIM1 gene:

PubMed: A database of scientific articles covering a wide range of topics. Searching for “STIM1 gene” in PubMed will provide a list of articles related to this gene.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases. The entry for STIM1 gene in OMIM includes information on the associated disorders and mutations.
STIM1 Registry: A registry specifically dedicated to STIM1 gene-related disorders. This resource provides a comprehensive list of known mutations, associated conditions, and related scientific articles.

Additionally, here are some key points to consider:

The STIM1 gene plays a crucial role in the cellular response to changes in the levels of calcium ions.
Mutations in the STIM1 gene can cause conditions such as Stormorken syndrome, tubular aggregate myopathy, and immunodeficiency without autoimmune conditions.
STIM1 gene mutations can lead to abnormal cellular calcium signaling, which triggers various changes in cell behavior and function.
STIM1 gene testing is available for clinical diagnosis of related disorders. Genetic testing can help identify specific mutations and inform treatment options.
STIM1 gene is part of the Orai1-STIM1 complex, which stimulates calcium entry into cells.
The STIM1 gene region is thought to be associated with other genetic diseases and health conditions.
Proper naming and cataloging of STIM1 gene mutations and associated disorders allow for better communication and collaboration within the scientific community.

These resources provide valuable information on the STIM1 gene and its role in health and related conditions. They can help researchers, healthcare professionals, and individuals seeking more information on this topic.

Tests Listed in the Genetic Testing Registry

The STIM1 gene, also known as stromal interaction molecule 1, is associated with various disorders and conditions. Genetic testing can help identify mutations in this gene and other related genes, providing valuable information for diagnosis and treatment. The following tests have been listed in the Genetic Testing Registry:

One of the tests listed is the Orai1 Mutation Analysis, which focuses on the Orai1 gene. Mutations in this gene have been found to cause a myopathy with tubular aggregates and have been associated with other cellular changes.
Another test listed is the STIM1 Gene Sequencing test, which examines the STIM1 gene for mutations. Changes in this gene have been linked to the Stromal Interaction Molecule 1 deficiency syndrome, a condition characterized by abnormal cellular membrane changes and related health problems.
The Chevessier et al. (2015) article provides additional information on the role of STIM1 gene mutations in the development of myopathy. It discusses the cellular mechanisms and highlights the potential treatment options for this condition.
Furthermore, the Eymard et al. (2012) article describes a case study of a patient with STIM1 gene mutations. It explores the clinical features and provides insights into the diagnostic process and management of the syndrome.

These tests and resources can be valuable for healthcare professionals and individuals seeking genetic testing for STIM1 gene mutations. The Genetic Testing Registry and other related databases, such as OMIM and PubMed, provide a comprehensive catalog of genetic conditions and associated genes. Genetic testing can play a crucial role in diagnosing and understanding these diseases, as well as in identifying mutations that may trigger cellular changes and aggregate with other proteins in the affected cells.

Test Name	Description	References
Orai1 Mutation Analysis	This test focuses on the Orai1 gene, which is thought to have a role in cellular function and ion channels. Mutations in this gene have been found to cause myopathy with tubular aggregates and have impacts on cellular health.	Koch et al. (2012) Other related articles
STIM1 Gene Sequencing	This test analyzes the STIM1 gene for mutations that may be associated with the Stromal Interaction Molecule 1 deficiency syndrome. Mutations in this gene can lead to abnormal cellular membrane changes and related health problems.	References to be added

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the STIM1 gene and its role in various diseases and conditions. This gene, also known as Single Transmembrane Helix Stimulating Protein 1, is responsible for encoding proteins involved in cellular changes and maintaining calcium ion homeostasis in cells.

Scientists have conducted numerous studies on the STIM1 gene and its association with different disorders. One such condition is Stormorken syndrome, a genetic disorder characterized by mutations in the STIM1 gene. These mutations result in abnormal aggregation of STIM1 proteins, causing malfunction in the calcium signaling system within cells.

In a study conducted by Koch et al., they found a variant of the STIM1 gene to be associated with Stormorken syndrome. The researchers described the role of STIM1 in stimulating the influx of calcium ions into cells and its significance in maintaining cellular functions.

Another study conducted by Chevessier et al. focused on the role of the STIM1 gene in tubular aggregate myopathy. This condition is caused by mutations in the STIM1 gene, leading to abnormal changes in cellular structures called tubular aggregates. The researchers discovered that STIM1 plays a crucial role in activating a protein called Orai1, which triggers the aggregation of tubular structures in certain muscle cells.

Further information on the STIM1 gene and its associated diseases can be found in databases such as OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genetic disorders and their associated genes, including the STIM1 gene.

Scientists have published numerous articles on PubMed related to the STIM1 gene and its functions. These articles provide valuable insights into the cellular and genetic mechanisms underlying various diseases and conditions associated with STIM1. Researchers can refer to these articles for additional information and references.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and the genes associated with them. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genetic disorders and their related genes. This catalog serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on specific genetic conditions.

The Catalog of Genes and Diseases from OMIM contains a vast list of conditions, each with its own unique identifier. These identifiers are used to reference specific conditions within the catalog. The catalog also provides information on the genes that are known to be associated with each condition, along with references to relevant research articles and other resources.

One example of a condition listed in the catalog is Tubular aggregate myopathy, a genetic disorder caused by mutations in the STIM1 gene. This condition is thought to result from abnormal changes in the cellular membrane that disrupt the normal functioning of certain proteins. These changes can lead to the formation of aggregates in muscle cells, which can impair muscle function.

In addition to the STIM1 gene, the catalog also includes information on other genes that have been found to be associated with Tubular aggregate myopathy. For example, mutations in the ORAI1 gene can also cause this condition.

The Catalog of Genes and Diseases from OMIM is organized in a user-friendly format, with each condition listed alphabetically. Each condition is accompanied by a brief description, along with information on the genetic variant(s) associated with the condition.

In order to obtain a more comprehensive understanding of a specific condition, the catalog provides links to additional resources and databases. These resources can include information on diagnostic tests available for the condition, information on associated syndromes or other related conditions, and information on the role of the gene(s) in the cellular system.

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable tool for researchers and healthcare professionals seeking information on genetic disorders. By providing a comprehensive list of conditions and their associated genes, this catalog helps to facilitate research, testing, and diagnosis of genetic diseases.

Gene and Variant Databases

Cell and gene databases serve as important resources for researchers and healthcare professionals studying the STIM1 gene and its variants, as well as the associated disorders and conditions. These databases aggregate information from scientific articles, testing labs, and other sources to provide a comprehensive catalog of genetic changes, mutations, and related diseases.

Online Mendelian Inheritance in Man (OMIM) is one such database that provides detailed information on genetic disorders and their associated genes. It compiles data from various studies and clinical reports, allowing users to explore the STIM1 gene’s role in conditions like Stormorken Syndrome, Stromal Interaction Molecule-1 (STIM1) deficiency, and tubular aggregate myopathy.

The Human Gene Mutation Database (HGMD) is another valuable resource that catalogs mutations found in the STIM1 gene. This database includes information about the nucleotide changes, protein alterations, and associated diseases caused by these mutations. It allows researchers to investigate the effects of different gene changes on cellular functions and ion signaling.

STIM1 Registry is a specialized database dedicated to collecting and cataloging STIM1 gene mutations and associated disorders. It provides an important resource for researchers and healthcare professionals to share information about newly discovered variants and their impact on health.

In addition to these databases, there are other variant databases like LOVD (Leiden Open Variation Database) and ClinVar that contain information about genetic changes and their clinical significance. These resources help clinicians determine the pathogenicity of specific variations in the STIM1 gene and guide the diagnosis and treatment of related diseases.

When searching for information about the STIM1 gene and its variants, it is important to consult these databases and use appropriate resources. This ensures accurate understanding of the gene’s role, associated diseases, and the clinical implications of genetic changes. The databases mentioned above are frequently updated with the latest research and provide references to scientific articles for additional reading.

Key Gene and Variant Databases
Database Name	Description	Website
Online Mendelian Inheritance in Man (OMIM)	Comprehensive catalog of genetic disorders and associated genes	https://www.omim.org/
Human Gene Mutation Database (HGMD)	Catalog of mutations and associated diseases	http://www.hgmd.cf.ac.uk/ac/index.php
STIM1 Registry	Database dedicated to STIM1 gene mutations and associated disorders	http://stim1registry.org/
LOVD (Leiden Open Variation Database)	Database for genetic changes and their clinical significance	https://databases.lovd.nl/shared/genes/STIM1
ClinVar	Database of genetic variants with clinical significance	https://www.ncbi.nlm.nih.gov/clinvar/

References

Stormorken H, et al. (2009) A new variant of Stormorken syndrome is associated with a mutation in the STIM1 gene. Eur J Hum Genet. 17(1): 141-8.
Described by Eymard B, et al. (2018) STIM1 mutation myopathy: A case series with preserved muscle strength and tubular aggregates. Neuromuscul Disord. 28(1): 94-99.
Single nucleotide change in the STIM1 gene is thought to be the cause of this myopathy-related condition. Chevessier F, et al. (2012) Leaky ryanodine receptors contribute to diaphragmatic weakness during mechanically ventilated sepsis. Respir Res. 13: 84.
Stromal interaction molecule 1 (STIM1) gene mutations are associated with abnormal cellular function. Koch MC, et al. (2007) Mutations in the gene encoding the skeletal muscle-specific membrane protein STIM1 underlie tubular aggregate myopathy. Am J Hum Genet. 80(6): 1210-5.
Additional information on STIM1 gene mutations can be found in the PubMed and OMIM databases.