Idiopathic bronchiectasis
ORPHA:60033DiseaseNot applicableAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CFTR | CF transmembrane conductance regulator | Candidate gene tested in | gene with protein product | 602421 |
| SCNN1A | sodium channel epithelial 1 subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 600228 |
| SCNN1B | sodium channel epithelial 1 subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 600760 |
| SCNN1G | sodium channel epithelial 1 subunit gamma | Disease-causing germline mutation(s) in | gene with protein product | 600761 |
Фенотипы (HPO)19
Облигатный (100%)1
HP:0002110Bronchiectasis
Очень частый (80–99%)3
HP:0002795Abnormal respiratory system physiology
HP:0011947Respiratory tract infection
HP:0031245Productive cough
Частый (30–79%)8
HP:0002094Dyspnea
HP:0002105Hemoptysis
HP:0002783Recurrent lower respiratory tract infections
HP:0005376Recurrent Haemophilus influenzae infections
HP:0030828Wheezing
HP:0030830Crackles
HP:0030877Reduced FEV1/FVC ratio
HP:0100749Chest pain
Периодический (5–29%)6
HP:0001658Myocardial infarction
HP:0001945Fever
HP:0002097Emphysema
HP:0004326Cachexia
HP:0011949Acute infectious pneumonia
HP:0100812Halitosis
Очень редкий (1–4%)1
HP:0001217Clubbing
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.8 | Finland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 29 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | 29 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)