Prune belly syndrome
ORPHA:2970Malformation syndromeAutosomal dominant, Not applicable, X-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)9
HP:0000014Abnormality of the bladder
HP:0000028Cryptorchidism
HP:0000069Abnormality of the ureter
HP:0000072Hydroureter
HP:0000076Vesicoureteral reflux
HP:0000144Decreased fertility
HP:0005199Aplasia of the abdominal wall musculature
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0010957Congenital posterior urethral valve
Частый (30–79%)8
HP:0000003Multicystic kidney dysplasia
HP:0000010Recurrent urinary tract infections
HP:0000083Renal insufficiency
HP:0000772Abnormal rib morphology
HP:0001562Oligohydramnios
HP:0002019Constipation
HP:0002205Recurrent respiratory infections
HP:0008734Decreased testicular size
Периодический (5–29%)17
HP:0000130Abnormality of the uterus
HP:0000767Pectus excavatum
HP:0001374Congenital hip dislocation
HP:0001508Failure to thrive
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001762Talipes equinovarus
HP:0002023Anal atresia
HP:0002566Intestinal malrotation
HP:0002580Volvulus
HP:0002650Scoliosis
HP:0003422Vertebral segmentation defect
HP:0011100Intestinal atresia
HP:0100543Cognitive impairment
HP:0100779Urogenital sinus anomaly
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.4 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.42 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.8 | 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)