Renal dysplasia
ORPHA:93108Morphological anomalyAutosomal dominant, Not applicableAll ages, Antenatal
Фенотипы (HPO)28
Частый (30–79%)7
HP:0000003Multicystic kidney dysplasia
HP:0000009Functional abnormality of the bladder
HP:0000091Abnormal renal tubule morphology
HP:0008678Renal hypoplasia/aplasia
HP:0011130Abnormal renal calyx morphology
HP:0012575Abnormal nephron morphology
HP:0012622Chronic kidney disease
Периодический (5–29%)19
HP:0000010Recurrent urinary tract infections
HP:0000020Urinary incontinence
HP:0000070Ureterocele
HP:0000072Hydroureter
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000105Enlarged kidney
HP:0000126Hydronephrosis
HP:0000822Hypertension
HP:0001562Oligohydramnios
HP:0002027Abdominal pain
HP:0004722Thickening of the glomerular basement membrane
HP:0005999Ureteral atresia
HP:0012300Ureteral agenesis
HP:0012330Pyelonephritis
HP:0012596Moderate proteinuria
HP:0030157Flank pain
HP:0031500Abdominal mass
HP:0031501Pelvic mass
Очень редкий (1–4%)2
HP:0001586Vesicovaginal fistula
HP:0010957Congenital posterior urethral valve
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
| Prevalence at birth | 1-5 / 10 000 | 43.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)