Traits

Traits linked to CFTR

CF transmembrane conductance regulator

The Human Phenotype Ontology links 97 traits to CFTR, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Always
Functional respiratory abnormality	Very often (80–99%)
Obstructive lung disease	Very often (80–99%)
Respiratory tract infection	Very often (80–99%)
Wet cough	Very often (80–99%)
Breathing difficulty	Often (30–79%)
Coughing up blood	Often (30–79%)
Crackles	Often (30–79%)
Decreased forced expiratory flow 25-75%	Often (30–79%)
Reduced FEV1/FVC ratio	Often (30–79%)
Reduced forced expiratory volume in one second	Often (30–79%)
Wheezing	Often (30–79%)
Emphysema	Sometimes (5–29%)
Reduced forced vital capacity	Sometimes (5–29%)
Collapsed lung	Rarely (1–4%)
Chronic lung disease	Not recorded
Hyperpolarized transepithelial nasal potential difference	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Malabsorption	Very often (80–99%)
Abnormality of the liver	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Fat in feces	Sometimes (5–29%)
Meconium ileus	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Enlarged liver	Rarely (1–4%)
Ileus	Rarely (1–4%)
Scar tissue replaces healthy tissue in the liver	Rarely (1–4%)
Abdominal pain	Not recorded
Biliary cirrhosis	Not recorded
Pancreatic calcification	Not recorded
Pancreatic pseudocyst	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Very often (80–99%)
Recurrent chest infections	Often (30–79%)
Recurrent Haemophilus influenzae infection	Often (30–79%)
Recurrent pneumonia	Often (30–79%)
Acute infectious pneumonia	Sometimes (5–29%)
Asthma	Sometimes (5–29%)
Baby eczema	Sometimes (5–29%)
Recurrent Aspergillus infection	Sometimes (5–29%)
Recurrent sinus and lung infections	Sometimes (5–29%)
Recurrent Staphylococcus aureus infection	Sometimes (5–29%)
Systemic lupus erythematosus	Sometimes (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rarely (1–4%)
Recurrent Burkholderia cepacia infection	Rarely (1–4%)
Chronic bronchitis	Not recorded
Recurrent infections in bronchi and lungs	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal sperm development	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Absent vas deferens	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Male infertility	Very often (80–99%)
Non-obstructive azoospermia	Very often (80–99%)
Obstructive azoospermia	Very often (80–99%)
Absent kidney on one side	Often (30–79%)
Seminal vesicle agenesis	Often (30–79%)
Abnormally shaped kidney	Sometimes (5–29%)
Low sperm count	Sometimes (5–29%)
Kidney stone	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Elevated sweat chloride	Always
Dehydration	Sometimes (5–29%)
Fever	Sometimes (5–29%)
Fluid retention	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Diabetes mellitus	Not recorded
Elevated urine calcium levels	Not recorded
Fluid around lungs	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive skin wrinkling on back of hands and fingers	Often (30–79%)
Itchy palm	Often (30–79%)
Orthokeratotic hyperkeratosis	Often (30–79%)
Salty tasting skin	Often (30–79%)
White papule	Often (30–79%)
Skin plaque	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Very often (80–99%)
Clubbing of fingers	Often (30–79%)
Excessive sweating of palms and soles	Often (30–79%)
Abnormality of the small joints of the hand	Sometimes (5–29%)
Clubbing of fingers and toes	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Chronic sinus disease	Often (30–79%)
Bad breath	Sometimes (5–29%)
Sinus disease	Sometimes (5–29%)
Nasal polyposis	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cor pulmonale	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Enlarged liver and spleen	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Decreased body mass index	Sometimes (5–29%)
Wasting syndrome	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	Sometimes (5–29%)
Osteoporosis	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal blood clot	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Increased circulating gonadotropin level	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CFTR and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test