Exstrophy-epispadias complex
ORPHA:322Malformation syndromeMultigenic/multifactorialAntenatal, Neonatal
Фенотипы (HPO)40
Частый (30–79%)6
HP:0000039Epispadias
HP:0000076Vesicoureteral reflux
HP:0002836Bladder exstrophy
HP:0004298Abnormality of the abdominal wall
HP:0010866Abdominal wall defect
HP:0100645Cystocele
Периодический (5–29%)20
HP:0000020Urinary incontinence
HP:0000023Inguinal hernia
HP:0000048Bifid scrotum
HP:0000075Renal duplication
HP:0000077Abnormality of the kidney
HP:0000083Renal insufficiency
HP:0000085Horseshoe kidney
HP:0000089Renal hypoplasia
HP:0000136Bifid uterus
HP:0001367Abnormal joint morphology
HP:0001539Omphalocele
HP:0004321Bladder fistula
HP:0011024Abnormality of the gastrointestinal tract
HP:0011842Abnormality of skeletal morphology
HP:0025489Bladder duplication
HP:0030014Female sexual dysfunction
HP:0030261Absent penis
HP:0040307Male sexual dysfunction
HP:0100599Bifid penis
HP:0100600Penoscrotal transposition
Очень редкий (1–4%)14
HP:0000028Cryptorchidism
HP:0000069Abnormality of the ureter
HP:0000110Renal dysplasia
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000290Abnormality of the forehead
HP:0000315Abnormality of the orbital region
HP:0001627Abnormal heart morphology
HP:0002023Anal atresia
HP:0002025Anal stenosis
HP:0002414Spina bifida
HP:0010475Cloacal exstrophy
HP:0012443Abnormality of brain morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)