Double outlet right ventricle
ORPHA:3426Morphological anomalyMultigenic/multifactorialInfancy, Neonatal
Фенотипы (HPO)28
Облигатный (100%)1
HP:0001719Double outlet right ventricle
Очень частый (80–99%)1
HP:0000961Cyanosis
Частый (30–79%)17
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000316Hypertelorism
HP:0001256Intellectual disability, mild
HP:0001508Failure to thrive
HP:0001629Ventricular septal defect
HP:0001642Pulmonic stenosis
HP:0001649Tachycardia
HP:0002789Tachypnea
HP:0004322Short stature
HP:0004383Hypoplastic left heart
HP:0005280Depressed nasal bridge
HP:0011968Feeding difficulties
HP:0030148Heart murmur
HP:0045025Narrow palpebral fissure
HP:3000022Abnormality of cartilage of external ear
Периодический (5–29%)9
HP:0000829Hypoparathyroidism
HP:0001636Tetralogy of Fallot
HP:0001660Truncus arteriosus
HP:0001680Coarctation of aorta
HP:0002566Intestinal malrotation
HP:0002901Hypocalcemia
HP:0004935Pulmonary artery atresia
HP:0010515Aplasia/Hypoplasia of the thymus
HP:0030853Heterotaxy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10 | Germany | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)