Pericardial and diaphragmatic defect
ORPHA:2847Malformation syndromeAutosomal recessive, Not applicableInfancy, Neonatal
Фенотипы (HPO)20
Облигатный (100%)2
HP:0009112Absent left hemidiaphragm
HP:0011635Partial diaphragmatic absence of pericardium
Частый (30–79%)3
HP:0002089Pulmonary hypoplasia
HP:0002643Neonatal respiratory distress
HP:0012418Hypoxemia
Периодический (5–29%)15
HP:0000766Abnormal sternum morphology
HP:0000767Pectus excavatum
HP:0000776Congenital diaphragmatic hernia
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001718Mitral stenosis
HP:0001962Palpitations
HP:0002245Meckel diverticulum
HP:0002566Intestinal malrotation
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0100632Pulmonary sequestration
HP:0100749Chest pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)