Congenital diaphragmatic hernia
ORPHA:2140Morphological anomalyMultigenic/multifactorial, Not applicableNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LONP1 | lon peptidase 1, mitochondrial | Major susceptibility factor in | gene with protein product | 605490 |
| ZFPM2 | zinc finger protein, FOG family member 2 | Major susceptibility factor in | gene with protein product | 603693 |
| GATA6 | GATA binding protein 6 | Major susceptibility factor in | gene with protein product | 601656 |
Фенотипы (HPO)8
Очень частый (80–99%)1
HP:0000776Congenital diaphragmatic hernia
Частый (30–79%)7
HP:0000884Prominent sternum
HP:0002089Pulmonary hypoplasia
HP:0002098Respiratory distress
HP:0002566Intestinal malrotation
HP:0010315Aplasia/Hypoplasia of the diaphragm
HP:0012418Hypoxemia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология22
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 30 | Worldwide | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 21.2 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 39.3 | Austria | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14.6 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Croatia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 19.8 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 23.6 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.9 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 23.2 | Hungary | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 21.7 | Ireland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.6 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 49.8 | Malta | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 29.2 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.9 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.2 | Poland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.9 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.4 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 38.9 | Switzerland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 19.7 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.3 | Ukraine | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 33 | United States | 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)