Familial bicuspid aortic valve
ORPHA:402075Morphological anomalyAutosomal dominantInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NKX2-5 | NK2 homeobox 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600584 |
| GATA5 | GATA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611496 |
| ROBO4 | roundabout guidance receptor 4 | Disease-causing germline mutation(s) in | gene with protein product | 607528 |
| NOTCH1 | notch receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 190198 |
| SMAD6 | SMAD family member 6 | Disease-causing germline mutation(s) in | gene with protein product | 602931 |
Фенотипы (HPO)12
Облигатный (100%)1
HP:0001647Bicuspid aortic valve
Очень частый (80–99%)6
HP:0001650Aortic valve stenosis
HP:0001659Aortic regurgitation
HP:0001680Coarctation of aorta
HP:0004380Aortic valve calcification
HP:0004962Thoracic aorta calcification
HP:0030148Heart murmur
Частый (30–79%)2
HP:0000822Hypertension
HP:0005113Dilatation of the aortic arch
Очень редкий (1–4%)3
HP:0004383Hypoplastic left heart
HP:0004933Ascending aortic dissection
HP:0011103Abnormal left ventricular outflow tract morphology
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)