U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Cystic fibrosis

Cystic fibrosis

Synonyms
MUCOVISCIDOSIS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Cystic Fibrosis
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Adrienne Savant
Benjamin Lyman
Christine Bojanowski
view full author information

Available tests

294 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (294 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1, CFTR
    Summary: CF transmembrane conductance regulator

  • Also known as: CD32, CD32A, CDw32, FCG2, FCGR2, FCGR2A1, FcGR, FcgammaRIIa, IGFR2, FCGR2A
    Summary: Fc gamma receptor IIa

  • Also known as: CED, DPD1, IBDIMDE, LAP, TGF-beta1, TGFB, TGFbeta, TGFB1
    Summary: transforming growth factor beta 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

Reviews

Suggested reading

Clinical resources

Practice guidelines

  • DailyMed Drug Label, 2022
    DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, No Mutations Detected by Carrier Screening, Cystic Fibrosis (CF), 2012
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, CFTR Mutations except R117H, Cystic Fibrosis (CF), 2012
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, Cystic Fibrosis R117H, 2012
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated IRT +/- DNA, Cystic Fibrosis, 2012
  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
  • ACMG Algorithm, 2006
    American College of Medical Genetics and Genomics, Algorithm, Immunoreactive Trypsinogen (IRT Elevated), 2006

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.