Oligomeganephronia
ORPHA:2260Morphological anomalyMultigenic/multifactorialAll ages
Фенотипы (HPO)30
Очень частый (80–99%)8
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0003259Elevated circulating creatinine concentration
HP:0005563Decreased numbers of nephrons
HP:0012213Decreased glomerular filtration rate
HP:0012575Abnormal nephron morphology
HP:0012584Bilateral renal hypoplasia
HP:0030162Glomerulomegaly
Частый (30–79%)6
HP:0000092Renal tubular atrophy
HP:0001518Small for gestational age
HP:0001622Premature birth
HP:0003774Stage 5 chronic kidney disease
HP:0011035Abnormal renal cortex morphology
HP:0025361Abnormality of medullary pyramid morphology
Периодический (5–29%)2
HP:0001944Dehydration
HP:0001959Polydipsia
Очень редкий (1–4%)14
HP:0000122Unilateral renal agenesis
HP:0000271Abnormality of the face
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000588Optic disc coloboma
HP:0000776Congenital diaphragmatic hernia
HP:0000822Hypertension
HP:0001250Seizure
HP:0001684Secundum atrial septal defect
HP:0002089Pulmonary hypoplasia
HP:0006518Pulmonary venous occlusion
HP:0009796Branchial cyst
HP:0012758Neurodevelopmental delay
HP:0040064Abnormality of limbs
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)