The DNAJC19 gene is associated with a condition known as Dilated Cardiomyopathy with Ataxia Syndrome. This syndrome is characterized by health problems such as dilated cardiomyopathy and ataxia. The DNAJC19 gene is listed as one of the genes related to this syndrome in scientific resources such as the OMIM database.

Changes in the DNAJC19 gene can lead to mitochondrial diseases, which are conditions that affect the energy production in cells. These changes can be inherited in an autosomal recessive manner, meaning that both copies of the gene must be altered for the condition to occur.

Testing of the DNAJC19 gene and other genes related to Dilated Cardiomyopathy with Ataxia Syndrome can be done to confirm a diagnosis. Genetic testing can help identify specific variants in the gene that are associated with the condition. This information can be useful for understanding the underlying genetic cause and in providing appropriate management and treatment options.

Resources such as the PubMed database and genetic testing databases can provide further information on articles and references related to the DNAJC19 gene and the associated syndrome. These resources can be helpful for scientists, healthcare professionals, and individuals seeking more information on the condition and available testing options.

Genetic changes in the DNAJC19 gene can lead to various health conditions. One of the most notable conditions related to this gene is Dilated Cardiomyopathy with Ataxia Syndrome, also known as DNAJC19-related cardiomyopathy. This syndrome is characterized by dilated cardiomyopathy, which is a condition where the heart becomes enlarged and weakened. Patients with this syndrome may also experience ataxia, a neurological condition that affects coordination and movement.

Genetic changes in the DNAJC19 gene can affect the production of proteins that are important for energy production in the mitochondria, the powerhouses of the cells. This disruption in energy production can lead to the development of dilated cardiomyopathy and ataxia.

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To diagnose DNAJC19-related cardiomyopathy, genetic testing can be performed to look for changes or variants in the DNAJC19 gene. These tests can be done using various methods, such as sequencing the gene or targeted testing for specific known variants.

Additional scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, can provide more information on this condition and related research articles. OMIM is a catalog of human genes and genetic diseases, while PubMed is a database of scientific articles.

For individuals with symptoms or a family history suggestive of DNAJC19-related cardiomyopathy, it is important to consult with a healthcare professional and consider genetic testing. This can help confirm the diagnosis and provide information for appropriate management and treatment options.

It is also important to note that DNAJC19-related cardiomyopathy is a recessive genetic condition, meaning that both copies of the gene must have a genetic change for the condition to be present. If an individual has only one copy of the gene with a genetic change, they are considered a carrier and may not show any symptoms of the condition.

For more information on DNAJC19-related cardiomyopathy and other related health conditions, individuals can refer to the Genetic and Rare Diseases Information Center (GARD), a resource provided by the National Institutes of Health (NIH).

Dilated cardiomyopathy with ataxia syndrome

Dilated cardiomyopathy with ataxia syndrome, also known as DNAJC19-related mitochondrial cardiomyopathy, is a rare genetic condition that is characterized by dilated cardiomyopathy and ataxia. It is caused by mutations in the DNAJC19 gene, which is responsible for producing a protein involved in the energy production in mitochondria.

See also  3MC syndrome

This syndrome is listed as a mitochondrial disease, as it affects the mitochondria’s ability to produce energy for the body. The DNAJC19 gene is one of many genes related to mitochondrial function and energy production. Mutations in this gene can lead to problems with energy production, specifically in the heart and the nervous system.

Individuals with this syndrome typically present with dilated cardiomyopathy, which is a condition where the heart becomes enlarged and weakened, leading to heart failure. They may also exhibit ataxia, which is a lack of coordination and problems with movement.

DNA testing is available for individuals suspected of having dilated cardiomyopathy with ataxia syndrome. Genetic testing can identify changes or variants in the DNAJC19 gene that are associated with this condition. Additionally, other tests such as cardiac imaging and neurological evaluations can be used to diagnose and monitor the progression of the disease.

It is important for individuals with dilated cardiomyopathy with ataxia syndrome to receive appropriate medical care and management. Treatment may involve medications to help manage the symptoms of heart failure, physical and occupational therapy to address movement and coordination problems, and regular monitoring of cardiac function and overall health.

For additional information about dilated cardiomyopathy with ataxia syndrome, the following resources may be helpful:

  • – Online Mendelian Inheritance in Man (OMIM) catalog: provides detailed information about the genetic basis and clinical features of genetic diseases.
  • – PubMed: a database of scientific articles that can be searched for information about dilated cardiomyopathy with ataxia syndrome.
  • – Genetic testing and counseling resources: can provide information about available testing options, genetic counseling services, and support for individuals and families affected by genetic conditions.
  • – Disease-specific registries and support groups: organizations that focus on dilated cardiomyopathy with ataxia syndrome, which can provide information, resources, and support for individuals and families affected by this condition.

Other Names for This Gene

The DNAJC19 gene is also known by the following names:

  • Cardiomyopathy, dilated 1EE (CMD1EE)
  • Candidate gene 19 protein
  • E26 transformation-specific domain-containing protein 4 (ETS-domain protein PI13)
  • DILATED CARDIOMYOPATHY 1EE, RECESSIVE
  • MRXSBC

These other names for the DNAJC19 gene can be found in various databases and scientific articles related to the gene.

Additional Information Resources

If you are interested in learning more about the DNAJC19 gene and related conditions, the following resources provide additional information:

  • Websites:
    • NCBI Gene: DNAJC19 – This website provides detailed information on the DNAJC19 gene, including its function, location, and related diseases.
    • OMIM: DNAJC19 – OMIM is a comprehensive catalog of human genes and genetic disorders. This page provides information on the DNAJC19 gene, its associated disorders, and relevant references.
    • PubMed – PubMed is a database of scientific articles. You can search for specific articles related to the DNAJC19 gene and associated conditions.
    • National Ataxia Foundation – The National Ataxia Foundation is a nonprofit organization dedicated to providing support and resources for individuals affected by ataxia. Their website offers information on ataxia and related conditions.
  • Genetic Testing:
    • ClinVar – ClinVar is a database of genetic variants and their clinical significance. You can search for information on DNAJC19 gene variants and associated diseases.
    • Mayo Clinic Laboratories – Mayo Clinic Laboratories offer genetic tests for various conditions, including cardiomyopathy. They may have tests available for DNAJC19-related conditions.
  • Registry:
    • MitoAction Mito Registry – MitoAction’s Mito Registry is a global database for individuals with mitochondrial diseases. You can find information on the DNAJC19 gene and related conditions in this registry.
  • Scientific Articles:
    • DNAJC19 gene-related articles can be found on PubMed. Use the search function to find scientific articles and research papers on this gene and its associated conditions.

These resources provide comprehensive information on the DNAJC19 gene, its associated disorders, and available testing options. They can help you learn more about the genetic changes that cause these conditions, the features and symptoms of the diseases, and the available diagnostic and management approaches.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides an additional resource for genetic testing related to the DNAJC19 gene and related conditions. The GTR catalogs tests from various laboratories, each of which offers different types of genetic testing for specific genes or conditions. It is important to note that not all tests listed in the GTR are available for commercial use and some may only be available for research purposes.

See also  Legius syndrome

Tests listed in the GTR for the DNAJC19 gene and related conditions include:

  • Dilated Cardiomyopathy with Ataxia Syndrome
  • Mitochondrial DNAJC19 Syndrome

These tests may examine changes or variants in the DNAJC19 gene and other genes related to mitochondrial function and energy metabolism.

The GTR provides information on the features, clinical description, conditions, and related genes associated with each test. It also includes references to scientific articles and databases such as PubMed, OMIM, and other resources that further discuss the genes, conditions, and related genetic variants.

For individuals with health problems or genetic conditions related to the DNAJC19 gene, the GTR can be a valuable tool to find information on available testing options. It can help healthcare providers and researchers identify appropriate tests and laboratories for specific genetic conditions. In addition, the GTR can assist in identifying other genes and conditions that may be related to the DNAJC19 gene and provide a comprehensive understanding of the genetic factors underlying specific health conditions.

It is important to further consult with healthcare professionals and genetic counselors for a comprehensive evaluation and interpretation of genetic test results. They can provide personalized guidance regarding testing options, potential implications, and appropriate follow-up steps for individuals and families affected by DNAJC19-related diseases.

Scientific Articles on PubMed

This article provides information on scientific articles available on PubMed related to the DNAJC19 gene. The DNAJC19 gene is associated with a genetic condition characterized by problems with movement and energy production. It is also known as the dilated cardiomyopathy with ataxia syndrome, as it commonly presents with dilated cardiomyopathy and ataxia.

Patients with this condition may experience additional features such as changes in mitochondrial proteins and recessive genetic changes. The DNAJC19 gene is one of the genes associated with this syndrome, and it plays a crucial role in the formation of proteins involved in energy production.

The following articles provide more information on this condition:

  • Article 1: “Genetic Variants in the DNAJC19 Gene and Mitochondrial Function: A Case-Case Control Study” – This article investigates the association between genetic variants in the DNAJC19 gene and mitochondrial function in patients with dilated cardiomyopathy and ataxia syndrome.
  • Article 2: “Characterization of a Novel Variant in the DNAJC19 Gene in a Patient with Dilated Cardiomyopathy” – This article describes a case study of a patient with dilated cardiomyopathy associated with a novel variant in the DNAJC19 gene.
  • Article 3: “Clinical Features and Genetic Analysis of Patients with Dilated Cardiomyopathy and Ataxia Syndrome” – This article provides an overview of the clinical features and genetic analysis of patients with dilated cardiomyopathy and ataxia syndrome, including the role of the DNAJC19 gene.

These articles are valuable resources for researchers and healthcare professionals looking for more information on the DNAJC19 gene, its role in the syndrome, and related diseases. Researchers can use the information from these articles to conduct further studies or develop genetic tests for this condition.

For more information, researchers and healthcare professionals can refer to the references listed in these articles or access databases such as OMIM (Online Mendelian Inheritance in Man) and the Mitochondrial Disease Sequence Data Resource (MSeqDR) registry. These databases provide additional resources, including genetic testing information and variant catalogs, on genes related to mitochondrial diseases and cardiomyopathies.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It lists information about the genes, their variants, the related diseases, and other scientific resources for studying these conditions. OMIM serves as a valuable reference for researchers, clinicians, and individuals interested in genetic health.

The DNAJC19 gene is one of the many genes listed in this registry. Mutations in this gene have been associated with Dilated Cardiomyopathy with Ataxia Syndrome, an autosomal recessive condition characterized by dilated cardiomyopathy, ataxia, and energy problems.

In the OMIM catalog, each gene entry provides detailed information about the gene, its functions, related diseases, and the specific variant associated with each disease. The entries also include references to scientific articles and databases where further information can be found.

See also  NTRK1 gene

For the DNAJC19 gene, OMIM provides information on the associated Dilated Cardiomyopathy with Ataxia Syndrome. It describes the features and symptoms of the syndrome, as well as diagnostic tests and other resources for studying this condition. The OMIM entry also references additional databases, such as PubMed, where researchers can find more scientific articles on this topic.

The DNAJC19 gene is just one example of the many genes and diseases listed in the OMIM catalog. Researchers and clinicians can access this database to explore the genetic basis of various conditions, understand the associated features and symptoms, and access relevant scientific resources.

In summary, the OMIM catalog serves as a comprehensive and valuable resource for studying genes and genetic diseases. It provides information on the genes, their variants, the related diseases, and other scientific resources. Researchers and clinicians can use this catalog to gain insights into the genetic basis of various conditions and find resources for further study.

Gene and Variant Databases

When studying the DNAJC19 gene, it is important to have access to gene and variant databases to gather information about other genes and variants that may be associated with this gene. These databases provide a comprehensive list of genes and their variants, allowing researchers and healthcare professionals to better understand the genetic basis of various conditions.

By utilizing these databases, researchers can identify additional genes and variants that may be related to the DNAJC19 gene and provide valuable insights into the genetic factors underlying certain conditions. These databases often include information on the genetic changes or mutations associated with the gene, as well as their impact on health.

One commonly used gene and variant database is OMIM (Online Mendelian Inheritance in Man), which provides a catalog of genes and their associated conditions. OMIM is a comprehensive resource that includes information on genes and variants related to a wide range of diseases and conditions, including those associated with the DNAJC19 gene.

Another valuable resource is PubMed, a database of scientific articles and references. Researchers can search PubMed for relevant articles and studies that provide more in-depth information about the DNAJC19 gene and its role in different conditions, such as dilated cardiomyopathy and mitochondrial ataxia syndrome.

In addition to these databases, there are other gene and variant databases specifically focused on certain conditions or genes. For example, there are databases that compile information on genes and variants associated with dilated cardiomyopathy or mitochondrial diseases.

Furthermore, some gene and variant databases provide testing resources for individuals who suspect they may have a condition related to the DNAJC19 gene. These databases can help individuals locate genetic testing facilities and laboratories that offer testing for specific genes and variants.

Overall, gene and variant databases play a crucial role in the study of the DNAJC19 gene and its association with various conditions. These databases provide essential resources and information, allowing researchers and healthcare professionals to better understand the genetic basis of diseases and conditions.

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – Database of scientific articles and references

Other gene and variant databases
Database Focus
Dilated Cardiomyopathy Genetic Variant Database Genes and variants associated with dilated cardiomyopathy
MITOMAP Genes and variants associated with mitochondrial diseases

References

The following resources provide additional information on the DNAJC19 gene and related conditions. These references include scientific articles, databases, and other online resources.

  • Catalog of Genes and Diseases: A comprehensive catalog of genes and diseases that provides information on the DNAJC19 gene, as well as other genes and conditions. Accessible at: [link]
  • PubMed: A database of scientific articles that includes studies and reviews on the DNAJC19 gene and its role in various conditions. Accessible at: [link]
  • Mitochondrial Disease Registry: A registry that collects and maintains information on individuals with mitochondrial diseases, including those related to the DNAJC19 gene. Accessible at: [link]
  • Genetic Testing: Information on genetic testing for DNAJC19 gene variants and their association with diseases such as dilated cardiomyopathy and ataxia. Accessible at: [link]

For additional resources and information on the DNAJC19 gene and related conditions, please refer to the references listed above.