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Genetic and Rare Diseases Information Center (GARD)

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Cystic fibrosis


Other Names for this Disease

  • CF
  • Mucoviscidosis
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

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

References

  1. Cystic Fibrosis . Genetics Home Reference Web site. January 2008; http://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed 8/23/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

7 question(s) from the public on Cystic fibrosis have been answered. See questions and answers. You can also submit a new question.

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 Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research.  Click on the NHGRI link to learn more about cystic fibrosis.
  • The National Heart Lung and Blood Institute (NHLBI) provides comprehensive information about Cystic Fibrosis.  Click on the NHLBI link to find this information.
  • The National Institutes of Health has a Health Topic page on Cystic fibrosis. Click on National Institutes of Health to view the information page.
  • 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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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

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