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Classic bladder exstrophy

ORPHA:93930Clinical subtypeMultigenic/multifactorialInfancy, Neonatal

Ассоциированные гены (2)

TP63
tumor protein p63
Major susceptibility factor in
OMIM: 603273
ISL1
ISL LIM homeobox 1
Major susceptibility factor in
OMIM: 600366

Фенотипы (13)

Очень частый (80–99%)7
HP:0000039Epispadias
HP:0000056Abnormality of the clitoris
HP:0000076Vesicoureteral reflux
HP:0001537Umbilical hernia
HP:0002836Bladder exstrophy
HP:0004378Abnormality of the anus
HP:0008736Hypoplasia of penis
Частый (30–79%)3
HP:0000010Recurrent urinary tract infections
HP:0000023Inguinal hernia
HP:0000069Abnormality of the ureter
Периодический (5–29%)3
HP:0001539Omphalocele
HP:0002566Intestinal malrotation
HP:0002607Bowel incontinence

Эпидемиология (5)

Prevalence at birth
1-9 / 100 000
Spain
Prevalence at birth
1-9 / 100 000
Europe
Point prevalence
1-9 / 100 000
Europe
Prevalence at birth
1-9 / 100 000
United States
Prevalence at birth
1-9 / 100 000
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы