Common arterial trunk
ORPHA:3384Morphological anomalyNot applicableInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)36
Облигатный (100%)1
HP:0001660Truncus arteriosus
Очень частый (80–99%)5
HP:0000961Cyanosis
HP:0001627Abnormal heart morphology
HP:0001649Tachycardia
HP:0001654Abnormal heart valve morphology
HP:0031653Abnormal heart valve physiology
Частый (30–79%)8
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0001640Cardiomegaly
HP:0001659Aortic regurgitation
HP:0001667Right ventricular hypertrophy
HP:0002789Tachypnea
HP:0011660Anomalous origin of one pulmonary artery from ascending aorta
HP:0012020Right aortic arch
Периодический (5–29%)19
HP:0000778Hypoplasia of the thymus
HP:0000849Adrenocortical abnormality
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001999Abnormal facial shape
HP:0002089Pulmonary hypoplasia
HP:0002101Abnormal lung lobation
HP:0004415Pulmonary artery stenosis
HP:0004935Pulmonary artery atresia
HP:0005301Persistent left superior vena cava
HP:0006704Abnormal coronary artery morphology
HP:0011611Interrupted aortic arch
HP:0011640Single coronary artery origin
HP:0025575Abnormal superior vena cava morphology
HP:0031014Arteria lusoria
HP:0045060Aplasia/hypoplasia involving bones of the extremities
HP:0100598Pulmonary edema
Очень редкий (1–4%)3
HP:0001669Transposition of the great arteries
HP:0004971Pulmonary artery hypoplasia
HP:0031635Anomalous origin of the left common carotid artery from the brachiocephalic artery
Эпидемиология16
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.3 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Belgium | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.5 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.6 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.3 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.6 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.7 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | Ukraine | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)