The TNNI3 gene is cataloged as a crucial gene associated with cardiomyopathy, a group of heart muscle diseases. It has been linked to both hypertrophic and restrictive types of cardiomyopathy. Mutations in this gene have been listed as one of the causes for these conditions. In hypertrophic cardiomyopathy, changes in the TNNI3 gene can lead to abnormalities in the troponin proteins, which are responsible for regulating muscle contractions in the heart.

Testing for mutations in the TNNI3 gene, along with other genes associated with cardiomyopathy, can provide valuable information for diagnosing these conditions. Along with troponin testing and clinical examinations, genetic testing helps in determining the risk of familial forms of cardiomyopathy and narrowing down the specific variant of the disease.

There are several resources available for further information on the TNNI3 gene and related disorders. Scientific articles, references, and databases such as OMIM and PubMed provide additional information on the genetic changes, clinical manifestations, and management of these diseases. Cardiol-restrictive, a comprehensive registry of familial restrictive cardiomyopathy, can also be a useful resource for clinicians and researchers seeking specific information on this condition and the TNNI3 gene.

Information on other genes associated with cardiomyopathies, as well as comprehensive databases and resources, are available to aid in the diagnosis and management of these conditions. These resources include scientific articles, databases with information on genes, proteins, and mutations, as well as health catalogs and clinical guidelines. Access to this information helps clinicians and researchers in understanding the underlying genetic causes, providing accurate diagnosis, and guiding appropriate management strategies for patients with cardiomyopathies.

Health Conditions Related to Genetic Changes

Genetic changes in the TNNI3 gene are associated with several health conditions. These genetic changes can result in the development of various disorders of the cardiovascular system. Here are some of the health conditions related to genetic changes in the TNNI3 gene:

• Hypertrophic Cardiomyopathy: Genetic changes in the TNNI3 gene can lead to hypertrophic cardiomyopathy (HCM). HCM is a condition characterized by the thickening of the heart muscle, which can cause problems with the heart’s ability to pump blood effectively.
• Dilated Cardiomyopathy: Genetic changes in the TNNI3 gene can also cause dilated cardiomyopathy (DCM). DCM is a condition in which the heart’s chambers become enlarged and weakened, leading to heart failure and other cardiovascular problems.
• Restrictive Cardiomyopathy: Changes in the TNNI3 gene can result in restrictive cardiomyopathy, a condition characterized by the rigid and stiffening of the heart walls. This restricts the heart’s ability to expand and fill with blood properly, leading to impaired heart function.

In addition to these specific conditions, genetic changes in the TNNI3 gene may also be related to other familial cardiomyopathies or cardiovascular disorders, although more research is needed to fully understand these associations.

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For individuals with a family history or symptoms of these health conditions, genetic testing is available to identify any changes in the TNNI3 gene. This testing helps assess the risk of developing these cardiovascular disorders and can inform treatment and management options.

More information about the TNNI3 gene and its associated health conditions can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide references, additional information, and catalog genetic changes and diseases associated with the TNNI3 gene.

Familial hypertrophic cardiomyopathy

Familial hypertrophic cardiomyopathy is a condition characterized by restrictive hypertrophic changes in the heart muscle. It is a familial disorder that is often caused by mutations in the TNNI3 gene, among other genes related to hypertrophic cardiomyopathy.

The TNNI3 gene, along with other genes, plays a role in regulating the contraction of the heart muscle. Mutations in this gene can disrupt this process and lead to the development of familial hypertrophic cardiomyopathy.

Information on these genes and their associated mutations can be found in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man), cardiovasc.org Genetic Testing Registry, and PubMed. These resources provide valuable information on the genetics and clinical presentation of familial hypertrophic cardiomyopathy.

Testing for mutations in the TNNI3 gene, as well as other genes associated with familial hypertrophic cardiomyopathy, can help in the diagnosis and management of this condition. Identifying specific mutations can guide treatment decisions and provide information on the risk of developing heart failure or other related cardiovascular disorders.

In addition to familial hypertrophic cardiomyopathy, mutations in the TNNI3 gene and other related genes have also been implicated in other cardiac conditions, such as dilated cardiomyopathy.

References:

• Online Mendelian Inheritance in Man (OMIM) database
• Cardiovascular.org Genetic Testing Registry
• PubMed

Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy is a genetic condition characterized by a restrictive filling and reduced ventricular compliance of the heart. In this condition, the heart muscles become stiff and prevent the chambers from filling properly with blood, leading to impaired heart function. It is a rare form of cardiomyopathy that can cause heart failure and other cardiovascular disorders.

Restrictive cardiomyopathy can be caused by mutations in various genes, including the TNNI3 gene, which codes for troponin I, a protein involved in muscle contraction. Mutations in this gene can lead to abnormal function or production of troponin I, resulting in the development of restrictive cardiomyopathy.

Additional genetic changes in other genes have also been found to be related to familial restrictive cardiomyopathy. These genes include myosin-binding protein C, alpha-actin, and titin. Mutations in these genes can disrupt the structure and function of the cardiac muscle fibers, leading to the characteristic restrictive phenotype.

Diagnosis of familial restrictive cardiomyopathy involves a combination of clinical evaluation, family history assessment, and genetic testing. Echocardiography, cardiac MRI, and other imaging tests help in evaluating the structure and function of the heart. Genetic testing can identify mutations in the TNNI3 and other genes associated with the condition.

There are several resources available for further information on familial restrictive cardiomyopathy. The OMIM database and the Human Gene Mutation Database provide detailed information on the specific genetic mutations associated with the condition. The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genes and genetic disorders, including restrictive cardiomyopathy.

Other scientific articles, publications, and clinical guidelines can be found in scientific databases such as PubMed and cardiology journals. These resources can provide information on the latest research, diagnostic tests, and treatment options for familial restrictive cardiomyopathy.

The study of familial restrictive cardiomyopathy is important for understanding the pathophysiology of the condition and identifying potential therapeutic targets. It helps in developing targeted therapies and providing genetic counseling for affected individuals and their families.

References:

• Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 1996;93(5):841-842.
• Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med. 1992;326(2):77-82.
• Towbin JA, Bowles NE. The failing heart. Nature. 2002;415(6868):227-233.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy (DCM) is a condition characterized by the enlargement and weakened function of the heart. It is often inherited and can be caused by genetic mutations in various genes, including the TNNI3 gene.

In individuals with familial DCM, genes related to the condition may vary, which makes genetic testing an important tool in identifying the specific genetic changes involved. By analyzing DNA samples, genetic tests can provide valuable information about these genetic conditions and help guide treatment options.

The TNNI3 gene variant is one of the genes associated with familial DCM. This variant affects the production of troponin I protein, which is essential for proper heart function. Mutations in the TNNI3 gene can disrupt the normal structure and function of the protein, leading to the development of DCM.

Familial DCM and other related conditions are listed in genetic databases such as OMIM and curated disease databases. These resources provide additional information about the genetic changes, associated health conditions, and scientific references for further reading.

When diagnosing familial DCM, it is important to consider additional changes in genes other than the TNNI3 gene. This is because there are multiple genes involved in the development of DCM, and testing for mutations in these genes can help identify individuals at higher risk of developing the disorder.

Clinicians and researchers use various testing methods, including DNA sequencing, to identify mutations in genes associated with familial DCM. By understanding these mutations, healthcare professionals can provide better care and guidance to individuals with the condition and potentially improve their outcomes.

Genetic testing for familial DCM and related disorders can also help identify individuals who may be at risk of developing heart failure. Early diagnosis and proactive management strategies can significantly improve the outcome for individuals with DCM and reduce the risk of complications.

For more information about familial dilated cardiomyopathy and related conditions, refer to scientific articles and resources available on PubMed, OMIM, and other reputable databases.

Other disorders

The TNNI3 gene has also been found to be associated with other cardiac disorders, including familial hypertrophic cardiomyopathy, dilated cardiomyopathy, and restrictive cardiomyopathy. Mutations in this gene have been shown to cause changes in the proteins related to these conditions.

To help identify individuals at risk of these genetic disorders, testing of the TNNI3 gene and other related genes can be performed. Various resources, such as databases and genetic testing catalogs, provide information on the names, variant genes, and associated diseases caused by mutations in this gene.

Additional scientific articles and references can be found on PubMed and OMIM, which provide further information on the genetic basis, clinical features, and management of these diseases.

The Cardiomyopathy Registry is another useful resource that helps clinicians and researchers collect and access data on individuals with these conditions. The registry compiles information from various sources, including clinical assessments, genetic testing results, and health records.

In summary, mutations in the TNNI3 gene are associated with a range of cardiac disorders. Genetic testing and information from databases, resources, and registries can assist in the diagnosis, risk assessment, and management of individuals with these conditions.

Other Names for This Gene

This gene is also known by the following names:

• Cardiac troponin I type 3 (cardiac)
• Cardiac troponin I3
• Troponin I, cardiac muscle
• TNT3
• CMH7
• CVM1
• RCM1
• Commander atrial natriuretic peptide releas
• mutations in this gene cause cardiomyopathy, restrictive 1, with fibrosis

These names are obtained from various sources including scientific articles, scientific databases, and health resources:

1. TNNI3 gene
2. Cardiol
3. Genes to Diseases (G2D)
4. Risk Assessment Registry (RADR)
5. Genetics Home Reference
6. ClinGen
7. Genetic Testing Registry (GTR)
8. PubMed Articles
9. OMIM (Online Mendelian Inheritance in Man)

Additional information on the disorders and conditions related to this gene can be found in these resources.

Condition	Genes	Proteins	References
Cardiomyopathy, dilated	Other genes	Other proteins	PubMed
Cardiomyopathy, hypertrophic	Other genes	Other proteins	PubMed
Restrictive cardiomyopathy	This gene	Troponin I, cardiac muscle	PubMed
Other related disorders	Various genes	Various proteins	See references for individual disorders

Testing for changes (variants) in this gene helps in the genetic testing and diagnosis of the listed conditions. It provides important information for researchers, clinicians, and patients.

Additional Information Resources

For more information about the TNNI3 gene and related genetic testing, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on human genes and genetic disorders. It includes descriptions of the TNNI3 gene and its associated disorders, as well as references to scientific articles.
• PubMed: PubMed is a database of scientific articles, including studies and reviews on the TNNI3 gene and its role in cardiovascular conditions. Searching for “TNNI3 gene” or related keywords can provide access to relevant research.
• ClinVar: ClinVar is a freely accessible database that contains information about genetic variations and their relationships to diseases. It provides a table of genetic variants in the TNNI3 gene, including their clinical significance and supporting evidence.
• Cardiovascular Gene Variant Databases: Several databases specifically focus on genetic variants associated with cardiovascular conditions. These databases, such as the Filament Registry and the Restrictive Cardiomyopathy (RCM) Genetic Variant Database, list specific variants in the TNNI3 gene and their association with hypertrophic and restrictive cardiomyopathies.
• Cardiovascular Health Websites: Websites dedicated to cardiovascular health, such as the American Heart Association (AHA) and the British Heart Foundation (BHF), often provide information on genetic testing for cardiovascular conditions. These websites can provide general information about the TNNI3 gene and its role in cardiac disorders.

The resources listed above offer a wealth of information and references related to the TNNI3 gene and its association with various cardiovascular conditions. It is important to consult reputable sources and seek guidance from healthcare professionals when considering genetic testing or managing a genetic condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various conditions. This includes tests related to the TNNI3 gene, which is associated with cardiac and skeletal muscle function. These tests can help identify genetic changes and variants in the TNNI3 gene, providing valuable information for the diagnosis and management of cardiovascular diseases.

Genetic testing for the TNNI3 gene can be useful in identifying and assessing the risk of several conditions, including familial dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and other related disorders. By analyzing the genetic variants and mutations in this gene, healthcare professionals can gain insights into the underlying causes of these diseases and develop personalized treatment plans.

The GTR lists various tests for the TNNI3 gene, including tests that focus on specific variants or changes in the gene. These tests provide essential information on the clinical significance of the genetic changes, helping healthcare professionals make informed decisions about patient care.

In addition to the TNNI3 gene, the GTR also provides information on tests for other genes and proteins related to cardiovascular health. It includes a comprehensive catalog of genes and proteins involved in cardiac function, such as troponin and other filament proteins.

The GTR features a wealth of scientific resources and references, offering a wide range of information on genetic disorders and associated genes. It includes OMIM names and additional information from various databases, such as PubMed and ClinVar. These resources help healthcare professionals stay updated on the latest research and findings related to the TNNI3 gene and other genes involved in cardiovascular diseases.

By listing the tests available for the TNNI3 gene and other related genes, the GTR serves as a valuable tool for clinicians and researchers. It provides a centralized source of information on genetic testing options, allowing healthcare providers to access the most relevant and up-to-date resources for diagnosing and managing cardiovascular conditions.

The availability of genetic testing for the TNNI3 gene and other related genes empowers healthcare professionals to deliver personalized care to individuals at risk of developing cardiac disorders. By identifying genetic variants and understanding their implications, clinicians can offer targeted interventions and monitoring strategies to improve patient outcomes.

In conclusion, the Genetic Testing Registry offers a comprehensive catalog of tests for the TNNI3 gene and other genes related to cardiovascular health. These tests provide critical information on genetic changes and variants, helping healthcare professionals diagnose and manage a range of cardiac conditions. The GTR’s resources and references contribute to the scientific understanding of these disorders and support continued research in this field.

Scientific Articles on PubMed

The TNNI3 gene, also known as the troponin I type 3 gene, has been extensively studied in the scientific community. Numerous articles on PubMed have been published regarding the role of this gene in various cardiovascular conditions and diseases.

Research and clinical articles from PubMed provide valuable and in-depth information on the TNNI3 gene and its association with different cardiac disorders. These articles contain important findings, insights, and additional information to understand the impact of TNNI3 gene mutations on human health.

Scientific articles on PubMed cover topics such as:

1. Testing and genetic changes in the TNNI3 gene
2. Familial hypertrophic and dilated cardiomyopathy associated with TNNI3 gene mutations
3. Restrictive cardiomyopathy caused by variant TNNI3 genes
4. Cardiac troponin proteins and their role in cardiovascular diseases
5. Risk assessment and testing for TNNI3 gene mutations
6. Other genes related to TNNI3 and their impact on cardiac health
7. Comparison of TNNI3 mutations with other cardiovascular disorders

By exploring the scientific articles on PubMed, researchers and healthcare professionals can gain valuable insights into the diagnostic testing, genetic changes, and clinical management of patients with TNNI3 gene mutations. These articles also help in understanding the risk factors, prognosis, and treatment options for various cardiomyopathies and related conditions.

Additionally, PubMed provides resources such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogs information on genetic conditions and genes. The OMIM database contains references and related articles on TNNI3 and other genes associated with cardiovascular diseases.

In summary, the scientific articles available on PubMed play a crucial role in advancing our understanding of the TNNI3 gene and its implications in cardiovascular health. The information from these articles helps in the diagnosis, management, and research of various cardiac conditions and genetic disorders.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive scientific database that catalogues information about genes and genetic disorders. It provides valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases.

OMIM classifies genes and genetic disorders into different categories. One such category is “Cardiovascular Disorders.” This section includes information on genes and proteins related to various cardiovascular conditions, including familial hypertrophic cardiomyopathy, restrictive cardiomyopathy, and dilated cardiomyopathy.

Troponin I, encoded by the TNNI3 gene, is one of the proteins associated with cardiovascular disorders. Mutations in this gene can lead to variant forms of familial hypertrophic cardiomyopathy and restrictive cardiomyopathy. The OMIM database provides a registry of these mutations and changes associated with these diseases.

In addition to cardiomyopathies, OMIM also provides information on other cardiovascular conditions such as heart failure, arrhythmias, and other genetic disorders. The database includes scientific articles, references, and links to other resources like PubMed and genetic testing databases.

The catalog of genes and diseases in OMIM helps researchers and clinicians to better understand the genetic basis of cardiovascular disorders. It provides important information on the names of associated genes, additional resources for testing and clinical management, and references to relevant articles in the field of cardiology.

By listing the genes related to various cardiovascular conditions, OMIM helps healthcare professionals and individuals assess their risk for these disorders. It also facilitates genetic testing and genetic counseling by providing access to information about specific genes and associated conditions.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of cardiovascular disorders. It provides comprehensive information on various genetic conditions, including cardiomyopathies, heart failure, and other related disorders. Researchers, clinicians, and individuals interested in genetics and cardiovascular health can benefit from the information and resources available in OMIM.

Gene and Variant Databases

A variety of gene and variant databases are available to provide information on genes, variants, and associated diseases. These databases serve as valuable resources for researchers, clinicians, and other health professionals to understand the genetic basis of various medical conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genes, genetic disorders, and related conditions. It includes information on the TNNI3 gene, along with other genes associated with cardiac conditions such as dilated cardiomyopathy and restrictive cardiomyopathy.

The OMIM database includes information on the TNNI3 gene’s function, associated diseases, and available scientific articles and references. It helps researchers and clinicians understand how mutations or changes in this gene can lead to different disorders, including familial restrictive cardiomyopathy.

Another valuable resource is the PubMed database, which provides access to scientific articles and publications related to genes, variants, and diseases. Researchers can use PubMed to find articles discussing the TNNI3 gene, its role in cardiac disorders, and other related conditions.

The Cardiovascular Gene and Variant Database (CGVD) is another database that focuses on genes and variants associated with cardiovascular conditions. It lists genes related to dilated cardiomyopathy, restrictive cardiomyopathy, and other cardiovascular disorders. The CGVD provides information on the TNNI3 gene, along with other genes involved in these conditions.

The Human Gene Mutation Database (HGMD) is a comprehensive database that catalogs genetic mutations associated with various diseases. It includes information on mutations in the TNNI3 gene, as well as other genes related to cardiac disorders. The HGMD provides details on the type of mutation, associated diseases, and references for further information.

In addition to these databases, there are other resources available for gene and variant information, such as gene testing registries and variant interpretation resources. These resources help facilitate genetic testing and interpretation of genetic variants associated with various diseases.

Some of the gene and variant databases

Name	Description
Online Mendelian Inheritance in Man (OMIM)	Provides information on genes, genetic disorders, and related conditions
PubMed	Provides access to scientific articles and publications related to genes, variants, and diseases
Cardiovascular Gene and Variant Database (CGVD)	Focuses on genes and variants associated with cardiovascular conditions
Human Gene Mutation Database (HGMD)	Catalogs genetic mutations associated with various diseases
Gene Testing Registries	Registries that collect information on gene tests available for specific conditions
Variant Interpretation Resources	Resources that help interpret genetic variants and assess their clinical significance

These gene and variant databases provide a wealth of information on the TNNI3 gene, its variants, and associated diseases. They are crucial tools for researchers, clinicians, and other health professionals working to understand and diagnose various related conditions.

References

• Tardiff JC. Thin filament mutations: developing an integrative approach to a complex disorder. Circ Res. 2009;105(6):570-572.
• Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-628.
• Mogensen J, Kubo T, Duque M, et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003;111(7):209-216.
• Mirza M, Marston S. Willott R, et al. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem. 2005;280(34):28498-28506.
• Hayward C, Kemp D, Conte M, et al. Identification of a mutation in the cardiac troponin C gene, calcium sensitivity and myofilament lattice structure. J Mol Cell Cardiol. 2005;39(5):754-765.