Juvenile nephropathic cystinosis
ORPHA:411634Clinical subtypeAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)1
HP:0000481Abnormal cornea morphology
Частый (30–79%)11
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000114Proximal tubulopathy
HP:0000531Corneal crystals
HP:0000613Photophobia
HP:0001994Renal Fanconi syndrome
HP:0002013Vomiting
HP:0003076Glycosuria
HP:0003126Low-molecular-weight proteinuria
HP:0003355Aminoaciduria
HP:0200026Ocular pain
Периодический (5–29%)18
HP:0000117Renal phosphate wasting
HP:0000821Hypothyroidism
HP:0001510Growth delay
HP:0001959Polydipsia
HP:0002148Hypophosphatemia
HP:0002900Hypokalemia
HP:0002901Hypocalcemia
HP:0002902Hyponatremia
HP:0002907Microscopic hematuria
HP:0003259Elevated circulating creatinine concentration
HP:0003537Hypouricemia
HP:0003774Stage 5 chronic kidney disease
HP:0004396Poor appetite
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0012598Abnormal urine potassium concentration
HP:0012622Chronic kidney disease
HP:0032639Elevated leukocyte cystine
HP:0100512Low levels of vitamin D
Очень редкий (1–4%)9
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001942Metabolic acidosis
HP:0001944Dehydration
HP:0002750Delayed skeletal maturation
HP:0003472Hypocalcemic tetany
HP:0011106Hypovolemia
HP:0011314Abnormality of long bone morphology
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | <1 / 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)