Trăsături

Trăsături asociate cu CFTR

CF transmembrane conductance regulator

Human Phenotype Ontology asociază 97 trăsături cu CFTR, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Permanent enlargement of the airways of the lungs	Întotdeauna
Functional respiratory abnormality	Foarte des (80–99%)
Obstructive lung disease	Foarte des (80–99%)
Respiratory tract infection	Foarte des (80–99%)
Wet cough	Foarte des (80–99%)
Breathing difficulty	Des (30–79%)
Coughing up blood	Des (30–79%)
Crackles	Des (30–79%)
Decreased forced expiratory flow 25-75%	Des (30–79%)
Reduced FEV1/FVC ratio	Des (30–79%)
Reduced forced expiratory volume in one second	Des (30–79%)
Wheezing	Des (30–79%)
Emphysema	Uneori (5–29%)
Reduced forced vital capacity	Uneori (5–29%)
Collapsed lung	Rar (1–4%)
Chronic lung disease	Neînregistrat
Hyperpolarized transepithelial nasal potential difference	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Abnormality of the liver	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Fat in feces	Uneori (5–29%)
Meconium ileus	Uneori (5–29%)
Pancreatic inflammation	Uneori (5–29%)
Rectum protrudes through anus	Uneori (5–29%)
Enlarged liver	Rar (1–4%)
Ileus	Rar (1–4%)
Scar tissue replaces healthy tissue in the liver	Rar (1–4%)
Abdominal pain	Neînregistrat
Biliary cirrhosis	Neînregistrat
Pancreatic calcification	Neînregistrat
Pancreatic pseudocyst	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Foarte des (80–99%)
Recurrent chest infections	Des (30–79%)
Recurrent Haemophilus influenzae infection	Des (30–79%)
Recurrent pneumonia	Des (30–79%)
Acute infectious pneumonia	Uneori (5–29%)
Asthma	Uneori (5–29%)
Baby eczema	Uneori (5–29%)
Recurrent Aspergillus infection	Uneori (5–29%)
Recurrent sinus and lung infections	Uneori (5–29%)
Recurrent Staphylococcus aureus infection	Uneori (5–29%)
Systemic lupus erythematosus	Uneori (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rar (1–4%)
Recurrent Burkholderia cepacia infection	Rar (1–4%)
Chronic bronchitis	Neînregistrat
Recurrent infections in bronchi and lungs	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal sperm development	Foarte des (80–99%)
Absent sperm in semen	Foarte des (80–99%)
Absent vas deferens	Foarte des (80–99%)
Decreased testicular size	Foarte des (80–99%)
Male infertility	Foarte des (80–99%)
Non-obstructive azoospermia	Foarte des (80–99%)
Obstructive azoospermia	Foarte des (80–99%)
Absent kidney on one side	Des (30–79%)
Seminal vesicle agenesis	Des (30–79%)
Abnormally shaped kidney	Uneori (5–29%)
Low sperm count	Uneori (5–29%)
Kidney stone	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated sweat chloride	Întotdeauna
Dehydration	Uneori (5–29%)
Fever	Uneori (5–29%)
Fluid retention	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Diabetes mellitus	Neînregistrat
Elevated urine calcium levels	Neînregistrat
Fluid around lungs	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive skin wrinkling on back of hands and fingers	Des (30–79%)
Itchy palm	Des (30–79%)
Orthokeratotic hyperkeratosis	Des (30–79%)
Salty tasting skin	Des (30–79%)
White papule	Des (30–79%)
Skin plaque	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Thickening of palms and soles	Foarte des (80–99%)
Clubbing of fingers	Des (30–79%)
Excessive sweating of palms and soles	Des (30–79%)
Abnormality of the small joints of the hand	Uneori (5–29%)
Clubbing of fingers and toes	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Chronic sinus disease	Des (30–79%)
Bad breath	Uneori (5–29%)
Sinus disease	Uneori (5–29%)
Nasal polyposis	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cor pulmonale	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Enlarged liver and spleen	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Decreased body mass index	Uneori (5–29%)
Wasting syndrome	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Osteopenia	Uneori (5–29%)
Osteoporosis	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Anxiety	Uneori (5–29%)
Depression	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormal blood clot	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Increased circulating gonadotropin level	Foarte des (80–99%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CFTR și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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