Holt-Oram syndrome
ORPHA:392Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)4
HP:0000889Abnormality of the clavicle
HP:0001171Split hand
HP:0001387Joint stiffness
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)11
HP:0001199Triphalangeal thumb
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001678Atrioventricular block
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004757Paroxysmal atrial fibrillation
HP:0005916Abnormal metacarpal morphology
HP:0006501Aplasia/Hypoplasia of the radius
HP:0009777Absent thumb
HP:0011705First degree atrioventricular block
Периодический (5–29%)14
HP:0031095Abnormal humerus morphology
HP:0000767Pectus excavatum
HP:0000772Abnormal rib morphology
HP:0000912Sprengel anomaly
HP:0001643Patent ductus arteriosus
HP:0001679Abnormal aortic morphology
HP:0002974Radioulnar synostosis
HP:0004383Hypoplastic left heart
HP:0006101Finger syndactyly
HP:0006695Atrioventricular canal defect
HP:0009829Phocomelia
HP:0010772Anomalous pulmonary venous return
HP:0011304Broad thumb
HP:0200021Down-sloping shoulders
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.95 | Hungary | 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)