Infantile nephropathic cystinosis
ORPHA:411629Clinical subtypeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)22
HP:0000124Renal tubular dysfunction
HP:0000531Corneal crystals
HP:0000613Photophobia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001941Acidosis
HP:0001944Dehydration
HP:0001959Polydipsia
HP:0001969Tubulointerstitial abnormality
HP:0001994Renal Fanconi syndrome
HP:0002013Vomiting
HP:0002019Constipation
HP:0002148Hypophosphatemia
HP:0002748Rickets
HP:0002900Hypokalemia
HP:0003076Glycosuria
HP:0003109Hyperphosphaturia
HP:0003111Abnormal blood ion concentration
HP:0003126Low-molecular-weight proteinuria
HP:0003355Aminoaciduria
HP:0004918Hyperchloremic metabolic acidosis
HP:0100511Abnormality of vitamin D metabolism
Частый (30–79%)3
HP:0000481Abnormal cornea morphology
HP:0000580Pigmentary retinopathy
HP:0002926Abnormality of thyroid physiology
Периодический (5–29%)2
HP:0002500Abnormal cerebral white matter morphology
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)