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	나타나는 빈도
Permanent enlargement of the airways of the lungs	항상
Functional respiratory abnormality	매우 자주 (80–99%)
Obstructive lung disease	매우 자주 (80–99%)
Respiratory tract infection	매우 자주 (80–99%)
Wet cough	매우 자주 (80–99%)
Breathing difficulty	자주 (30–79%)
Coughing up blood	자주 (30–79%)
Crackles	자주 (30–79%)
Decreased forced expiratory flow 25-75%	자주 (30–79%)
Reduced FEV1/FVC ratio	자주 (30–79%)
Reduced forced expiratory volume in one second	자주 (30–79%)
Wheezing	자주 (30–79%)
Emphysema	가끔 (5–29%)
Reduced forced vital capacity	가끔 (5–29%)
Collapsed lung	드물게 (1–4%)
Chronic lung disease	기록되지 않음
Hyperpolarized transepithelial nasal potential difference	기록되지 않음

Trait	나타나는 빈도
Inability to properly digest food due to lack of pancreatic digestive enzymes	매우 자주 (80–99%)
Malabsorption	매우 자주 (80–99%)
Abnormality of the liver	가끔 (5–29%)
Acid reflux	가끔 (5–29%)
Diarrhea	가끔 (5–29%)
Fat in feces	가끔 (5–29%)
Meconium ileus	가끔 (5–29%)
Pancreatic inflammation	가끔 (5–29%)
Rectum protrudes through anus	가끔 (5–29%)
Enlarged liver	드물게 (1–4%)
Ileus	드물게 (1–4%)
Scar tissue replaces healthy tissue in the liver	드물게 (1–4%)
Abdominal pain	기록되지 않음
Biliary cirrhosis	기록되지 않음
Pancreatic calcification	기록되지 않음
Pancreatic pseudocyst	기록되지 않음

Trait	나타나는 빈도
Recurrent respiratory infections	매우 자주 (80–99%)
Recurrent chest infections	자주 (30–79%)
Recurrent Haemophilus influenzae infection	자주 (30–79%)
Recurrent pneumonia	자주 (30–79%)
Acute infectious pneumonia	가끔 (5–29%)
Asthma	가끔 (5–29%)
Baby eczema	가끔 (5–29%)
Recurrent Aspergillus infection	가끔 (5–29%)
Recurrent sinus and lung infections	가끔 (5–29%)
Recurrent Staphylococcus aureus infection	가끔 (5–29%)
Systemic lupus erythematosus	가끔 (5–29%)
Nontuberculous mycobacterial pulmonary infection	드물게 (1–4%)
Recurrent Burkholderia cepacia infection	드물게 (1–4%)
Chronic bronchitis	기록되지 않음
Recurrent infections in bronchi and lungs	기록되지 않음

Trait	나타나는 빈도
Abnormal sperm development	매우 자주 (80–99%)
Absent sperm in semen	매우 자주 (80–99%)
Absent vas deferens	매우 자주 (80–99%)
Decreased testicular size	매우 자주 (80–99%)
Male infertility	매우 자주 (80–99%)
Non-obstructive azoospermia	매우 자주 (80–99%)
Obstructive azoospermia	매우 자주 (80–99%)
Absent kidney on one side	자주 (30–79%)
Seminal vesicle agenesis	자주 (30–79%)
Abnormally shaped kidney	가끔 (5–29%)
Low sperm count	가끔 (5–29%)
Kidney stone	드물게 (1–4%)

Trait	나타나는 빈도
Elevated sweat chloride	항상
Dehydration	가끔 (5–29%)
Fever	가끔 (5–29%)
Fluid retention	가끔 (5–29%)
High liver enzymes	가끔 (5–29%)
Diabetes mellitus	기록되지 않음
Elevated urine calcium levels	기록되지 않음
Fluid around lungs	기록되지 않음

Trait	나타나는 빈도
Excessive skin wrinkling on back of hands and fingers	자주 (30–79%)
Itchy palm	자주 (30–79%)
Orthokeratotic hyperkeratosis	자주 (30–79%)
Salty tasting skin	자주 (30–79%)
White papule	자주 (30–79%)
Skin plaque	가끔 (5–29%)

Trait	나타나는 빈도
Thickening of palms and soles	매우 자주 (80–99%)
Clubbing of fingers	자주 (30–79%)
Excessive sweating of palms and soles	자주 (30–79%)
Abnormality of the small joints of the hand	가끔 (5–29%)
Clubbing of fingers and toes	드물게 (1–4%)

Trait	나타나는 빈도
Osteopenia	가끔 (5–29%)
Osteoporosis	드물게 (1–4%)

Trait	나타나는 빈도
Anxiety	가끔 (5–29%)
Depression	가끔 (5–29%)

Trait	나타나는 빈도
Abnormal blood clot	기록되지 않음

Trait	나타나는 빈도
Hearing impairment	드물게 (1–4%)

Trait	나타나는 빈도
Increased circulating gonadotropin level	매우 자주 (80–99%)

Trait	나타나는 빈도
Chest pain	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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.

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