Primary hyperoxaluria
ORPHA:416DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)33
Очень частый (80–99%)2
HP:0003159Hyperoxaluria
HP:0008672Calcium oxalate nephrolithiasis
Частый (30–79%)25
HP:0000121Nephrocalcinosis
HP:0000164Abnormality of the dentition
HP:0000488Retinopathy
HP:0000543Optic disc pallor
HP:0000648Optic atrophy
HP:0000790Hematuria
HP:0001508Failure to thrive
HP:0001942Metabolic acidosis
HP:0002653Bone pain
HP:0002757Recurrent fractures
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004417Intermittent claudication
HP:0005789Generalized osteosclerosis
HP:0006479Abnormality of the dental pulp
HP:0007663Reduced visual acuity
HP:0009830Peripheral neuropathy
HP:0011072Rootless teeth
HP:0011506Choroidal neovascularization
HP:0012072Aciduria
HP:0012622Chronic kidney disease
HP:0012722Heart block
HP:0025324Arterial occlusion
HP:0030880Raynaud phenomenon
HP:0031981Elevated urine glycolate
HP:0100758Gangrene
Периодический (5–29%)3
HP:0001063Acrocyanosis
HP:0002150Hypercalciuria
HP:0003774Stage 5 chronic kidney disease
Очень редкий (1–4%)3
HP:0000965Cutis marmorata
HP:0001638Cardiomyopathy
HP:0025520Calcinosis cutis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Germany | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only |
| Annual incidence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)