DICER1 gene

Published Categorized as Genetics
DICER1 gene

The DICER1 gene is an endoribonuclease gene that plays a crucial role in the production of small RNAs, which regulate gene expression. Mutations in the DICER1 gene have been associated with a variety of genetic diseases and conditions, including cystic nephroma, a type of cystic kidney tumor. The DICER1 gene is listed in various genetic databases, such as OMIM and the Genetic Testing Registry, where additional information about the gene and related conditions can be found.

Testing for mutations in the DICER1 gene can be performed to confirm a diagnosis, especially in individuals with a family history of DICER1-related conditions. This can help guide medical management and provide important information about the risk of developing associated diseases. Scientific articles on DICER1 gene changes and associated conditions can be found in the PubMed database, which is a valuable resource for finding references and further information.

The DICER1 gene is named after its role as a dicer enzyme, which cleaves double-stranded RNA into small RNAs, including microRNAs. MicroRNAs are involved in numerous cellular processes, and abnormalities in their production can lead to various diseases. The DICER1 gene has been extensively studied in relation to cancer, congenital malformations, and developmental disorders.

In addition to the resources mentioned above, there are other databases and registries that provide information and support for individuals and families affected by DICER1 gene mutations. These resources can help connect patients with healthcare providers, provide educational materials, and facilitate patient advocacy. Keeping up-to-date with the latest research and clinical guidelines is crucial for understanding the implications and potential treatments for DICER1-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the DICER1 gene can lead to various health conditions and syndromes. DICER1 syndrome is the most well-known condition associated with changes in this gene. This syndrome affects various organs and can cause a range of symptoms and complications.

Here are some examples of health conditions related to changes in the DICER1 gene:

  • DICER1 syndrome: A syndrome caused by changes in the DICER1 gene. It is characterized by the development of different types of tumors and cysts in various organs.
  • Cystic nephroma: A rare type of kidney tumor that is often observed in children and young adults with DICER1 syndrome.
  • PubMed articles: Scientific articles listed on PubMed that provide additional information on the genetic changes in the DICER1 gene and related health conditions.
  • Databases and registries: Resources such as the DICER1 Syndrome Database and the Online Mendelian Inheritance in Man (OMIM) catalog that provide information on the DICER1 gene, associated health conditions, and genetic variant testing.
  • Genetic testing: Tests that can identify changes or mutations in the DICER1 gene, helping in the diagnosis of related health conditions.
  • Other related genes: Genes that are also involved in the development of health conditions associated with changes in the DICER1 gene.

It is important to consult with healthcare professionals and genetic counselors for detailed information and guidance on testing, genetic changes, and the management of health conditions related to changes in the DICER1 gene.

DICER1 syndrome

DICER1 syndrome is a genetic condition caused by changes (variants) in the DICER1 gene. This gene provides instructions for making a protein called endoribonuclease Dicer. This protein is essential for the normal processing of certain molecules called microRNAs, which play a role in regulating gene activity. DICER1 gene variants can lead to abnormal processing of microRNAs, which can in turn contribute to the development of various diseases and conditions.

The DICER1 syndrome is associated with a range of different conditions, including cystic nephroma, pulmonary blastoma, and thyroid cancer. Other conditions that have been linked to DICER1 gene variants include Sertoli-Leydig cell tumors, multinodular goiter, and ovarian sex cord-stromal tumors.

References to scientific articles about DICER1 syndrome can be found in various databases, including OMIM, PubMed, and other genetic resources. These references provide valuable information about the syndrome, its symptoms, and the associated conditions and diseases.

If you are interested in learning more about DICER1 syndrome, you can search for articles and resources on PubMed or consult the OMIM catalog of genetic conditions. These resources can provide additional information about the genetic changes associated with DICER1 syndrome, as well as testing options and available resources for individuals affected by this condition.

Other Names for This Gene

The DICER1 gene is also known by other names:

  • dicer 1, ribonuclease type III (DICER1)
  • dicer 1, endoribonuclease double-stranded RNA-specific
  • DICER1-AS1, antisense RNA 1 (head to head)
  • DICER1-IT1, non-protein coding RNA
  • DICER1-IT2, non-protein coding RNA
  • DICER1-IT3, non-protein coding RNA
See also  Danon disease

These names may be useful when doing additional research on the DICER1 gene.

For more information about this gene, you can visit the following resources:

  • NCBI Gene
  • PubMed – a database of scientific articles
  • OMIM – Online Mendelian Inheritance in Man

These resources provide information on related genes, genetic tests, changes in health, conditions, and diseases associated with DICER1.

It is also recommended to consult the DICER1 Registry for more specific information about DICER1-related conditions and testing.

Additional Information Resources

  • The DICER1 gene is associated with various diseases and conditions, including familial pleuropulmonary blastoma, type 2 and 3 cystic nephroma, and others.
  • For more information on DICER1 gene and related genes, you can visit the following databases and resources:
    • OMIM – a comprehensive catalog of human genes and genetic conditions, including information on the DICER1 gene and its associated diseases.
    • PubMed – a database of scientific articles, where you can find research papers and studies related to the DICER1 gene and its role in various diseases.
    • Genetic Testing Registry – a resource that provides information on genetic tests for DICER1 gene and other related genes.
  • In addition to these resources, there are also several organizations and registries that focus on DICER1-related conditions:
    • The International Pleuropulmonary Blastoma/DICER1 Registry – a registry that collects information on individuals with familial pleuropulmonary blastoma and other DICER1-related conditions.
    • Society for Pediatric Pathology (SPP) DICER1 Registry – a registry that aims to enhance the understanding of DICER1 syndrome through collaboration and data sharing.
  • For a more comprehensive list of resources and references on DICER1 gene and associated conditions, you can refer to scientific articles and publications available on PubMed.
  • Please note that this is just a summary of the available resources, and there may be other databases and websites that provide information on the DICER1 gene and its role in diseases.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a vital role in understanding and diagnosing various diseases and conditions. In the case of the DICER1 gene, the Genetic Testing Registry catalogs multiple tests that help determine the presence of abnormalities and variants in this gene.

The DICER1 gene is a crucial component in the production of small non-coding RNAs, which are essential for regulating gene expression. Mutations or changes in this gene have been linked to various conditions and syndromes, including cystic nephroma and familial pleuropulmonary blastoma.

The Genetic Testing Registry provides comprehensive information on tests available for the DICER1 gene. These tests evaluate DNA or RNA samples to identify any changes or variants in the gene’s sequence. By analyzing the genetic material, the tests can provide valuable insights into the individual’s risk for specific diseases and conditions.

The registry lists various scientific resources and databases that offer information related to the DICER1 gene and its testing. These resources include OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain a wealth of articles and references on genetic conditions. Researchers and healthcare professionals can use these resources to further their understanding of the gene and its implications.

It is important to note that the Genetic Testing Registry provides only a catalog of available tests. Additional information regarding the specific type of testing and its availability should be obtained from healthcare professionals or the providers of these tests.


  • Amendola LM, et al. “The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations”. Am J Hum Genet. 2018 Feb 1;102(2):250-260.
  • Chou A, et al. “Cystic nephroma and mixed epithelial and stromal tumor: an update”. Histopathology. 2017 Nov;71(5):757-766.

Scientific Articles on PubMed

  • The DICER1 gene: from basic research to identification of new conditions and syndromes
  • Diagnostic testing for DICER1 gene changes in pediatric cystic nephroma
  • Genetic testing for DICER1 gene variant in patients with endoribonuclease DROSHA/DICER1-related conditions
  • Genetic changes in the DICER1 gene and their association with cystic nephroma and other related conditions
  • OMIM database: DICER1 gene and related disorders
  • Registry of DICER1 gene variant testing: information on listed variants, testing resources, and associated conditions
  • Scientific articles on PubMed related to DICER1 gene and associated syndromes
  • DICER1 gene: a key player in the pathogenesis of cystic nephroma and other endoribonuclease-related conditions
  • Health implications of DICER1 gene changes: insights from scientific research articles

Testing for DICER1 gene changes is crucial in the diagnosis and management of patients with related syndromes and conditions. The identification of DICER1 gene variants can provide valuable information for healthcare providers and patients in understanding the underlying genetic basis of these conditions.

See also  Genes H

Various resources are available for genetic testing of the DICER1 gene, including databases, registries, and scientific articles. The OMIM database contains comprehensive information on the DICER1 gene and related disorders. Additionally, the DICER1 registry provides a centralized platform for accessing information on listed variants, testing resources, and associated conditions.

PubMed, a widely used scientific literature database, houses numerous articles on the DICER1 gene and its association with various syndromes and diseases. These articles provide valuable insights into the molecular mechanisms and clinical implications of DICER1 gene changes.

Overall, the scientific articles available on PubMed contribute to the growing body of knowledge on the DICER1 gene and its role in the development of cystic nephroma and other endoribonuclease-related conditions. They serve as important references for healthcare professionals and researchers in the field of genetics and genomics.

Catalog of Genes and Diseases from OMIM

The DICER1 gene is an endoribonuclease gene that is responsible for producing the Dicer protein. This protein plays a critical role in the regulation of gene expression by processing microRNAs and small interfering RNAs.

OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information on genes and genetic conditions. It is a valuable resource for researchers and healthcare professionals to understand the genetic basis of various diseases.

The catalog of genes and diseases from OMIM includes information on the DICER1 gene. This gene is listed in the registry of genes associated with Mendelian disorders and provides references to articles and resources related to DICER1 and the diseases associated with its variants.

One of the diseases associated with DICER1 variants is cystic nephroma. This condition is characterized by the development of abnormally large cysts in the kidneys. The catalog provides information on the genetic changes associated with cystic nephroma and references to relevant publications in PubMed.

In addition to DICER1, the catalog includes information on other genes associated with various diseases. It provides a comprehensive list of genes, their associated conditions, and additional resources for further reading and research.

Gene Associated Diseases Additional Resources
DICER1 Cystic nephroma, pleuropulmonary blastoma, others PubMed, OMIM registry
Other genes Various diseases PubMed, OMIM registry

The catalog of genes and diseases from OMIM serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions. It provides a comprehensive and up-to-date resource for genetic testing and information on genetic diseases.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing comprehensive information about genetic changes associated with the DICER1 gene. These databases compile and organize data from various sources such as scientific articles, pubmed references, and genetic testing resources. They serve as a valuable catalog of information for researchers, medical professionals, and individuals interested in understanding the genetic basis of DICER1-related conditions.

One such database is the DICER1 Syndrome Registry, which focuses specifically on the DICER1 gene and its associated conditions. It provides a registry of individuals with DICER1-related changes and offers resources for genetic testing, including information on the types of tests available and guidelines for testing individuals suspected of having DICER1-related conditions.

Another important database is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive collection of information on genetic disorders and genes. OMIM includes detailed descriptions of the DICER1 gene and its associations with various conditions, such as cystic nephroma and other endoribonuclease-related disorders.

Gene and variant databases serve as valuable resources for researchers and medical professionals by providing a centralized and easily accessible platform to search for information related to genetic changes in the DICER1 gene. These databases not only provide references to scientific articles and pubmed publications but also offer detailed information about genetic tests available for specific conditions associated with DICER1 gene mutations.

Overall, gene and variant databases play a crucial role in disseminating information about the DICER1 gene and its related conditions. They provide a comprehensive catalog of scientific references, genetic testing resources, and guidelines for individuals seeking information about DICER1 gene mutations and associated health conditions.


  • DICER1 gene:
  • DICER1-related conditions:
  • Testing for DICER1 gene:
  • Other genes and conditions:
  • Databases and registries:
    • The DICER1 Variant Registry for collecting and sharing data on DICER1-related diseases and variants
    • The NIH Genetic Testing Registry for information on genetic tests, including testing for DICER1-related conditions
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.