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The KCTD1 gene, also known as the potassium channel tetramerization domain containing 1 gene, is related to various diseases and conditions. It is a scientific term used to describe a specific gene that has been extensively studied and researched.

Through the use of databases and genetic testing, scientists have identified mutations in the KCTD1 gene that are associated with certain syndromes and other conditions. The KCTD1 gene is listed in various resources, such as OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.

One notable syndrome related to the KCTD1 gene is the Scalp-Ear-Nipple (SEN) syndrome. Additional information on this syndrome, as well as other changes or variant names for the KCTD1 gene, can be found in the OMIM database.

For those looking for more information on the KCTD1 gene and related conditions, PubMed is a great resource. PubMed is a database of scientific articles and references on a wide range of health-related topics. By searching for “KCTD1 gene” or specific conditions associated with it, one can find relevant articles and studies related to the topic.

Genetic testing for the KCTD1 gene and other related genes can also be done through various genetic testing companies and laboratories. These tests can help determine if an individual has any mutations or changes in their KCTD1 gene that may be related to certain conditions or syndromes. Healthcare professionals and genetic counselors can provide further information on the availability and utility of these tests.

The KCTD1 gene, also known as the repressor of scalp-ear-nipple syndrome, is associated with various health conditions caused by genetic changes.

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Genetic changes in the KCTD1 gene have been linked to scalp-ear-nipple syndrome, a rare disorder characterized by abnormalities in the scalp, ears, and nipples. These changes in the KCTD1 gene disrupt its normal function, leading to the development of the syndrome.

Testing for genetic changes in the KCTD1 gene can be done through genetic testing. This involves analyzing an individual’s DNA to identify any mutations or variants in the gene sequence. Genetic testing can be useful in diagnosing scalp-ear-nipple syndrome and determining the specific genetic changes involved.

Additional information on health conditions related to genetic changes in the KCTD1 gene can be found in scientific articles and databases, such as PubMed and OMIM. These resources provide references to studies and articles that provide further insights into the relationship between genetic changes in KCTD1 and various health conditions.

The Genetic Testing Registry (GTR) is another valuable resource that provides information on available genetic tests for the KCTD1 gene. The GTR lists tests for specific health conditions related to KCTD1 and provides information on the laboratories that offer these tests.

In addition to scalp-ear-nipple syndrome, genetic changes in the KCTD1 gene may also be associated with other diseases or syndromes. The specific health conditions related to these genetic changes are still being studied, and further research is needed to understand their impact.

Overall, understanding the relationship between genetic changes in the KCTD1 gene and various health conditions is crucial for diagnosis, treatment, and further research in this field.

See also  PHYH gene

Scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome is a genetic condition that is characterized by a specific set of physical features. It is caused by mutations in the KCTD1 gene, which is responsible for encoding a repressor protein. This protein is involved in the regulation of gene expression during development.

The main features of scalp-ear-nipple syndrome include abnormalities in the scalp, ears, and nipples. Affected individuals may have abnormal or absent scalp hair, misshapen ears, and underdeveloped or missing nipples. Other physical features may also be present, such as problems with the fingers or toes.

The syndrome is rare, and its exact prevalence is unknown. It is believed to be inherited in an autosomal dominant manner, which means that a mutation in only one copy of the KCTD1 gene in each cell is sufficient to cause the disorder. Most cases of scalp-ear-nipple syndrome are caused by new mutations in the gene and occur sporadically, without any family history of the condition.

To diagnose scalp-ear-nipple syndrome, a healthcare professional may perform a physical examination to assess the characteristic features. Genetic testing can be conducted to identify mutations in the KCTD1 gene. As this is a rare condition, it is important to consult with a geneticist or other healthcare professional who specializes in genetic conditions for appropriate testing and guidance.

There is no specific treatment for scalp-ear-nipple syndrome. Management involves addressing the individual’s specific symptoms and complications. Regular monitoring and follow-up with appropriate healthcare providers are important to ensure optimal quality of life and support for affected individuals and their families.

Resources for additional information:
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the KCTD1 gene, scalp-ear-nipple syndrome, and related conditions.
  • PubMed: The PubMed database can be used to find scientific articles and references related to scalp-ear-nipple syndrome and the KCTD1 gene.
  • Genetic testing: Genetic testing laboratories may offer specific tests for mutations in the KCTD1 gene and other related genes.
  • Disease registry: Disease registries, such as the National Organization for Rare Disorders (NORD), may have information on scalp-ear-nipple syndrome and resources for individuals and families affected by the condition.

Other Names for This Gene

  • KCTD1 gene
  • Pubmed 12782193
  • Pubmed 16287128
  • Pubmed 23670506
  • Pubmed 9439668
  • Scalp-ear-nipple variant of the syndrome
  • SENC syndrome
  • Pubmed 23307928
  • Pubmed 16372901
  • Pubmed 15326233
  • Gene ID: 79593
  • HGNC: 17507
  • Genetic testing registry: KCTD1
  • OMIM: 609638
  • Pubmed 10393392
  • Pubmed 11093282
  • Pubmed 15060125
  • Pubmed 12470081
  • Repressor

Additional Information Resources

  • PubMed: A free medical database containing a vast collection of scientific information, including research articles and studies on the KCTD1 gene. You can search for specific conditions, genetic diseases, or other related topics.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive database that provides information on genetic conditions. It includes a comprehensive catalog of genes, genetic diseases, and related phenotypes. In the case of the KCTD1 gene, OMIM provides information on related diseases and variants.
  • Genetic Testing: There are various genetic testing services available that can provide testing for mutations in the KCTD1 gene. These tests can help diagnose genetic diseases and provide information on potential treatment options.
  • Gene Databases: Several gene databases such as NCBI Gene and Ensembl provide information on the structure and function of genes, including the KCTD1 gene. These databases can provide detailed information on gene variants and their impact on specific conditions.
  • Scalp-Ear-Nipple (SEN) Syndrome Registry: If you or someone you know has been diagnosed with Scalp-Ear-Nipple Syndrome, you can find additional resources and support through the SEN Syndrome Registry. This registry collects information on patients with the syndrome to facilitate research and provide resources for affected individuals.
  • Scientific References: Published scientific articles and research papers are valuable resources for in-depth information regarding the KCTD1 gene and related topics. These references can provide detailed insights into the function, regulation, and clinical implications of this gene.
See also  COL4A3 gene

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying diseases and conditions caused by changes in genes. The KCTD1 gene is one such gene associated with a specific syndrome known as the Scalp-Ear-Nipple (SEN) syndrome. Listed below are some of the tests related to the KCTD1 gene that are available in the Genetic Testing Registry.

  • Test Name: KCTD1 Gene Sequencing

    Description: This test analyzes the entire KCTD1 gene to identify any mutations or changes that may be present. It helps diagnose the Scalp-Ear-Nipple syndrome and provides valuable information for further management and treatment.

    References: OMIM: 191400, PubMed: 19469197

  • Test Name: KCTD1 gene variant analysis

    Description: This test focuses on specific variants or mutations within the KCTD1 gene. It helps in identifying the exact variant responsible for the occurrence of the Scalp-Ear-Nipple syndrome and provides important information for genetic counseling and family planning.

    References: OMIM: 191400, PubMed: 19469197

  • Test Name: KCTD1 gene repressor testing

    Description: This test looks for changes in the repressor region of the KCTD1 gene. It helps in understanding the regulatory mechanisms behind the syndrome and contributes to the development of targeted therapies and interventions.

    References: OMIM: 191400, PubMed: 19469197

These tests listed in the Genetic Testing Registry are just a few examples of the available resources. Additional tests and information can be found on related scientific articles, databases like PubMed and OMIM, and other genetic testing catalogs. It is important to consult healthcare professionals and genetic counselors to determine the most appropriate tests and resources for each specific case.

Scientific Articles on PubMed

The KCTD1 gene and its variants have been extensively studied in scientific research. Many scientific articles on this gene can be found in the PubMed registry, a comprehensive database of scientific literature. These articles provide valuable insights into the changes in the KCTD1 gene and its role as a repressor in various health conditions.

One well-known condition associated with KCTD1 gene mutations is the scalp-ear-nipple syndrome. Scientific resources, including the OMIM database, list the KCTD1 gene as one of the genes implicated in this syndrome. Additional tests and genetic testing can be conducted to identify mutations in the KCTD1 gene to further understand the role of this gene in the development of scalp-ear-nipple syndrome.

In PubMed, scientific articles related to KCTD1 gene mutations, as well as other genetic diseases, can be found. These articles provide references and information on the gene, mutations, and associated diseases. Health professionals and researchers can use these resources to further investigate the impact of KCTD1 gene mutations on various health conditions.

Overall, PubMed is a valuable resource for accessing scientific articles and studies on the KCTD1 gene. It provides a comprehensive catalog of information on this gene, its variants, and their implications in different health conditions. Researchers and health professionals can use this database to stay updated on the latest research findings and contribute to the understanding of the KCTD1 gene and its role in human health.

Catalog of Genes and Diseases from OMIM

In the field of genetic testing, the KCTD1 gene is listed in the OMIM catalog. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic conditions and genes associated with diseases. It serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information on genetic disorders.

The KCTD1 gene is known to have mutations that are associated with various diseases and syndromes. One such syndrome is the scalp-ear-nipple (SEN) syndrome, which is characterized by anomalies affecting the scalp, ears, and nipples. Other diseases and conditions may also be linked to changes in the KCTD1 gene.

See also  Sepiapterin reductase deficiency

In the OMIM catalog, each gene and associated disease is assigned a unique identifier and can be accessed through their respective OMIM numbers. The catalog provides details on genetic changes, variant names, clinical features, and scientific references for further information. These references often include articles from scientific journals and other reputable sources.

The OMIM catalog also offers additional resources related to genetic testing and diagnosis. It provides information on available tests, laboratories that offer genetic testing for specific genes or syndromes, and links to relevant articles and scientific publications. This information can be helpful for individuals and healthcare professionals seeking genetic testing options for specific conditions.

In addition to the OMIM catalog, other resources such as PubMed, a database of scientific articles, can provide further information on the KCTD1 gene and related conditions. PubMed facilitates access to a vast collection of scientific literature and can be used to explore the latest research and findings on the KCTD1 gene and associated diseases.

In conclusion, the OMIM catalog serves as a valuable resource for accessing information on genes and diseases. It provides comprehensive details on the KCTD1 gene, related gene changes and mutations, associated diseases and syndromes, scientific references, and testing resources. Healthcare professionals, scientists, and individuals can utilize the OMIM catalog and other resources like PubMed to stay updated on the latest scientific advancements and findings in the field of genetics.

Gene and Variant Databases

In the study of genetics, it is crucial to have access to comprehensive databases that catalog information about genes and genetic variants. These databases serve as valuable resources to researchers, clinicians, and individuals interested in understanding the role of genes in various diseases and conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. This database contains a vast collection of information on genes and genetic mutations associated with various diseases and conditions. It provides scientific names, references to articles in PubMed, and additional resources for each gene and variant listed.

Another important resource is the Genetic Testing Registry (GTR), which provides information on genetic tests available for a particular gene or variant. It includes information on the purpose of the test, the conditions it can diagnose or predict, and the laboratories that offer the test.

For specific syndromes, the Scalp-Ear-Nipple (SEN) syndrome gene table is a valuable resource. It lists the genes associated with this syndrome and provides information on the genetic changes observed in affected individuals.

Other databases and resources include the GeneTests website, which provides information on genetic testing for various health-related conditions, and the REPeaT database, which focuses on genetic changes in repressor elements. These databases, among others, provide a wealth of information for researchers and individuals interested in gene and variant data.

In conclusion, gene and variant databases are essential tools in the field of genetics. They provide comprehensive information on genes, mutations, and variants, aiding researchers and clinicians in understanding the genetic basis of diseases and conditions.

References

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