Cystic fibrosis
ORPHA:586DiseaseAutosomal recessiveAll ages
Ассоциированные гены19
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SERPINA1 | serpin family A member 1 | Modifying germline mutation in | gene with protein product | 107400 |
| SLC26A9 | solute carrier family 26 member 9 | Modifying germline mutation in | gene with protein product | 608481 |
| SLC6A14 | solute carrier family 6 member 14 | Modifying germline mutation in | gene with protein product | 300444 |
| SLC9A3 | solute carrier family 9 member A3 | Modifying germline mutation in | gene with protein product | 182307 |
| CEACAM3 | CEA cell adhesion molecule 3 | Modifying germline mutation in | gene with protein product | 609142 |
| CEACAM6 | CEA cell adhesion molecule 6 | Modifying germline mutation in | gene with protein product | 163980 |
| EDNRA | endothelin receptor type A | Modifying germline mutation in | gene with protein product | 131243 |
| GSTM3 | glutathione S-transferase mu 3 | Modifying germline mutation in | gene with protein product | 138390 |
| HMOX1 | heme oxygenase 1 | Modifying germline mutation in | gene with protein product | 141250 |
| GCLC | glutamate-cysteine ligase catalytic subunit | Modifying germline mutation in | gene with protein product | 606857 |
| HFE | homeostatic iron regulator | Modifying germline mutation in | gene with protein product | 613609 |
| CFTR | CF transmembrane conductance regulator | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602421 |
| TGFB1 | transforming growth factor beta 1 | Modifying germline mutation in | gene with protein product | 190180 |
| DCTN4 | dynactin subunit 4 | Modifying germline mutation in | gene with protein product | 614758 |
| CLCA4 | chloride channel accessory 4 | Modifying germline mutation in | gene with protein product | 616857 |
| STX1A | syntaxin 1A | Modifying germline mutation in | gene with protein product | 186590 |
| KCNN4 | potassium calcium-activated channel subfamily N member 4 | Modifying germline mutation in | gene with protein product | 602754 |
| MIF | macrophage migration inhibitory factor | Modifying germline mutation in | gene with protein product | 153620 |
| SLC11A1 | solute carrier family 11 member 1 | Modifying germline mutation in | gene with protein product | 600266 |
Фенотипы (HPO)35
Очень частый (80–99%)7
HP:0001738Exocrine pancreatic insufficiency
HP:0002024Malabsorption
HP:0002110Bronchiectasis
HP:0002205Recurrent respiratory infections
HP:0006536Airway obstruction
HP:0012236Elevated sweat chloride
HP:0012873Absent vas deferens
Частый (30–79%)2
HP:0001508Failure to thrive
HP:0003251Male infertility
Периодический (5–29%)17
HP:0000716Depression
HP:0000739Anxiety
HP:0000938Osteopenia
HP:0001392Abnormality of the liver
HP:0002020Gastroesophageal reflux
HP:0002035Rectal prolapse
HP:0002099Asthma
HP:0002570Steatorrhea
HP:0002724Recurrent Aspergillus infections
HP:0002726Recurrent Staphylococcus aureus infections
HP:0002783Recurrent lower respiratory tract infections
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004401Meconium ileus
HP:0005376Recurrent Haemophilus influenzae infections
HP:0032342Reduced forced expiratory volume in one second
HP:0045082Decreased body mass index
HP:0000246Sinusitis
Очень редкий (1–4%)9
HP:0000365Hearing impairment
HP:0000787Nephrolithiasis
HP:0000939Osteoporosis
HP:0001394Cirrhosis
HP:0002105Hemoptysis
HP:0002107Pneumothorax
HP:0002842Recurrent Burkholderia cepacia infections
HP:0032261Nontuberculous mycobacterial pulmonary infection
HP:0100582Nasal polyposis
Эпидемиология62
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 19.3912 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.1319 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 28.5714 | Austria | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.39 | Austria | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 35.0877 | Belgium | Value and class |
| Point prevalence | 1-5 / 10 000 | 20.1429 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 40 | Bulgaria | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.26 | Bulgaria | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.6358 | Cyprus | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.35 | Cyprus | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 15.29 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.7775 | Czech Republic | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17.41 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.9946 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.2222 | Estonia | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.18 | Estonia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.1027 | Finland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 21.15 | France | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.1416 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 19.5017 | Germany | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.1954 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 28.5714 | Greece | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.21 | Greece | Value and class |
| Prevalence at birth | Unknown | — | Hungary | Class only |
| Point prevalence | 1-9 / 100 000 | 4.09 | Hungary | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 36.36 | Ireland | Value and class |
| Point prevalence | 1-5 / 10 000 | 20.8733 | Ireland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17.809 | Italy | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.2236 | Italy | Value and class |
| Prevalence at birth | Unknown | — | Latvia | Class only |
| Point prevalence | 1-9 / 100 000 | 1.04 | Latvia | Value and class |
| Prevalence at birth | Unknown | — | Lithuania | Class only |
| Point prevalence | 1-9 / 100 000 | 1.3 | Lithuania | Value and class |
| Prevalence at birth | Unknown | — | Luxembourg | Class only |
| Point prevalence | 1-9 / 100 000 | 4.31 | Luxembourg | Value and class |
| Prevalence at birth | Unknown | — | Malta | Class only |
| Point prevalence | 1-9 / 100 000 | 5.79 | Malta | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.58 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.5181 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.5474 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.629 | Norway | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17.4881 | Poland | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.0394 | Poland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.549 | Portugal | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.204 | Portugal | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 48.6381 | Romania | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.06 | Romania | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.7119 | Russian Federation | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.5753 | Russian Federation | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 15.38 | Slovakia | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.8292 | Slovakia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 33.3333 | Slovenia | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.28 | Slovenia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.5048 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.4749 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17.9285 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.2922 | Sweden | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 41.9991 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.7 | United Kingdom | Value and class |
| Annual incidence | 1-5 / 10 000 | 13.1995 | Brazil | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.7786 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)