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Diseases

Genetic and Rare Diseases Information Center (GARD)

DICER1-related pleuropulmonary blastoma cancer predisposition syndrome


Other Names for this Disease
  • DICER1 syndrome
  • DICER1-related pleuropulmonary blastoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1 syndrome. These cysts typically develop in childhood, but do not usually cause any health problems. Women with DICER1 syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries. DICER1 syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion.[1] Affected members in the same family can be very differently affected.[1]
Last updated: 8/25/2015

References

  1. DICER1 syndrome. Genetics Home Reference. May 2013; http://ghr.nlm.nih.gov/condition/dicer1-syndrome. Accessed 8/25/2015.
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Basic Information

  • The International Pleuropulmonary Blastoma Registry Web site provides information on pleuropulmonary blastoma for patients and for health professionals. Click on the link above to visit the Web site.
  • Genetics Home Reference contains information on DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DICER1 syndrome
  • DICER1-related pleuropulmonary blastoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.