GTR Home > Conditions/Phenotypes > Cystic fibrosis


CFTR-related disorders include cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF. Affected individuals have lower airway inflammation and chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage (bronchiectasis, cysts, and abscesses) and fibrosis of lung parenchyma. Meconium ileus occurs at birth in 15%-20% of newborns with CF. Pancreatic insufficiency with malabsorption occurs in the great majority of individuals with CF. More than 95% of males with CF are infertile as a result of azoospermia caused by absent, atrophic, or fibrotic Wolffian duct structures. CAVD occurs in men without pulmonary or gastrointestinal manifestations of CF. Affected men have azoospermia and are thus infertile. [from GeneReviews]

Associated genes

  • Also known as: ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1, CFTR
    Summary: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

  • Also known as: CED, DPD1, LAP, TGFB, TGFbeta, TGFB1
    Summary: transforming growth factor, beta 1

Clinical features


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Go to complete MedGen record for Cystic fibrosis

Suggested reading

Practice guidelines

  • DailyMed Drug Label, 2012
    DailyMed Drug Label, KALYDECO, 2012
  • HGS Australasia, 2014
    Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
  • CPIC, 2014
    Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype
  • NSGC, 2014
    Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
  • CDC, 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
  • ACOG, 2011
    ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
  • ECFS, 2010
    Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
  • CPGPT/CF FPT Committees, 2010
    Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
  • ACMG ACT Sheets, 2010
    ACMG ACT Sheets and Confirmatory Algorithms
  • CFF, 2009
    Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
  • CFF, 2009
    Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent
  • NSGC, 2005
    Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
  • ACMG, 2004
    Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
  • ACMG Lab QA, 2002
    Standards and guidelines for CFTR mutation testing.
  • ACMG/ACOG, 2001
    Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

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