The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the pancreas | 90% |
| Decreased antibody level in blood | 90% |
| Malabsorption | 90% |
| Pulmonary fibrosis | 90% |
| Recurrent respiratory infections | 90% |
| Exocrine pancreatic insufficiency | 75% |
| Hepatomegaly | 7.5% |
| Dehydration | 5% |
| Asthma | - |
| Autosomal recessive inheritance | - |
| Biliary cirrhosis | - |
| Bronchiectasis | - |
| Chronic lung disease | - |
| Cor pulmonale | - |
| Elevated sweat chloride | - |
| Failure to thrive | - |
| Hypercalciuria | - |
| Male infertility | - |
| Meconium ileus | - |
| Rectal prolapse | - |
| Recurrent bronchopulmonary infections | - |
| Recurrent pneumonia | - |
More information about genetic testing for cystic fibrosis is available on The National Human Genome Research Institute’s Web site and can be viewed by clicking here.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick,
Frederick,
MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,deanm@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have Russell-Silver syndrome (RSS) and my boyfriend has cystic fibrosis. I recently found out that both are caused by mutations of chromosome 7. Does that mean that I could be a carrier of cystic fibrosis (CF)? See answer
My child is 11 years-old and has many of the symptoms of cystic fibrosis. She'll be undergoing testing next week. How common is it to be diagnosed with cystic fibrosis this late in life? See answer
Are carriers of cystic fibrosis at a higher risk for other health conditions? See answer
We have been told that my newborn grandson has been classified as a carrier for cystic fibrosis. I know that if both parents have the defective gene, the child has a 25 percent chance of actually getting CF, and a 50 percent chance of being a carrier. My question is, can the child be a carrier if only one parent has the defective gene?
Thank you.
See answer
What are the current genetic tests for cystic fibrosis? How much do they cost? See answer
Is there new information on genes that cause cystic fibrosis? If cystic fibrosis testing was done by amniocentesis 6 years ago, have there been any new findings since then? See answer
Where can I get information on cystic fibrosis carrier screening and the official recommendations for pregnant women? See answer
Could you please send any and all information on Cystic Fibrosis. One of the staff members has a child with CF and stated the child is not suppose to be in the same classroom with another child with CF. I would like to know why that is? I assume it is related to the altered immunity state. How does this work? What do they do to address this problem? See answer
