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Genetic and Rare Diseases Information Center (GARD)

Cystic fibrosis

Other Names for this Disease
  • Mucoviscidosis
  • CF
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Cystic fibrosis (CF) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. These infections can cause chronic coughing, and wheezing. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 4/4/2013


  1. Cystic fibrosis. Genetics Home Reference. January 2008;
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Basic Information

  • The American College of Obstetricians and Gynecologists (ACOG) published an education pamphlet on cystic fibrosis titled "Cystic Fibrosis: Prenatal Screening and Diagnosis." 
  • Genetics Home Reference (GHR) contains information on Cystic fibrosis. This website is maintained by the National Library of Medicine.
  • The March of Dimes (MOD) has a fact sheet on Cystic Fibrosis.  Visit the MOD hyperlink to learn more.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The National Heart Lung and Blood Institute (NHLBI) provides comprehensive information about Cystic Fibrosis.  Click on the NHLBI link to find this information.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic fibrosis. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • In 2002, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current, initiated a review of the scientific literature and other available data and practices.  The Working Group summarized its major recommendations with the supporting justification for these decisions in an article by Watson et al. titled "Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics."  To access this policy statement, visit the link above.
Other Names for this Disease
  • Mucoviscidosis
  • CF
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.