Atrial septal defect, ostium secundum type
ORPHA:99103Clinical subtypeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ACTC1 | actin alpha cardiac muscle 1 | Disease-causing germline mutation(s) in | gene with protein product | 102540 |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 600576 |
| MYH6 | myosin heavy chain 6 | Disease-causing germline mutation(s) in | gene with protein product | 160710 |
| NKX2-5 | NK2 homeobox 5 | Disease-causing germline mutation(s) in | gene with protein product | 600584 |
| TBX20 | T-box transcription factor 20 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606061 |
| TBX20 | T-box transcription factor 20 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 606061 |
| TLL1 | tolloid like 1 | Disease-causing germline mutation(s) in | gene with protein product | 606742 |
| CITED2 | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 | Disease-causing germline mutation(s) in | gene with protein product | 602937 |
| GATA6 | GATA binding protein 6 | Disease-causing germline mutation(s) in | gene with protein product | 601656 |
Фенотипы (HPO)35
Очень частый (80–99%)1
HP:0012382Left-to-right shunt
Частый (30–79%)6
HP:0001962Palpitations
HP:0002875Exertional dyspnea
HP:0003546Exercise intolerance
HP:0012378Fatigue
HP:0030718Right atrial enlargement
HP:0031664Systolic heart murmur
Периодический (5–29%)19
HP:0001633Abnormal mitral valve morphology
HP:0001635Congestive heart failure
HP:0001653Mitral regurgitation
HP:0002092Pulmonary arterial hypertension
HP:0002094Dyspnea
HP:0004749Atrial flutter
HP:0004755Supraventricular tachycardia
HP:0005110Atrial fibrillation
HP:0005115Supraventricular arrhythmia
HP:0005133Right ventricular dilatation
HP:0005162Abnormal left ventricular function
HP:0005180Tricuspid regurgitation
HP:0005957Breathing dysregulation
HP:0010741Pedal edema
HP:0011675Arrhythmia
HP:0011705First degree atrioventricular block
HP:0011710Bundle branch block
HP:0012250ST segment depression
HP:0012764Orthopnea
Очень редкий (1–4%)9
HP:0000961Cyanosis
HP:0001279Syncope
HP:0001297Stroke
HP:0001708Right ventricular failure
HP:0002090Pneumonia
HP:0002326Transient ischemic attack
HP:0002718Recurrent bacterial infections
HP:0005317Increased pulmonary vascular resistance
HP:0006536Airway obstruction
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)