Cystinosis
ORPHA:213DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)56
Очень частый (80–99%)21
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0000124Renal tubular dysfunction
HP:0000613Photophobia
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001944Dehydration
HP:0001959Polydipsia
HP:0001994Renal Fanconi syndrome
HP:0002013Vomiting
HP:0002148Hypophosphatemia
HP:0002900Hypokalemia
HP:0003198Myopathy
HP:0003355Aminoaciduria
HP:0004322Short stature
HP:0007957Corneal opacity
HP:0009806Nephrogenic diabetes insipidus
HP:0012378Fatigue
HP:0100651Type I diabetes mellitus
Частый (30–79%)18
HP:0000083Renal insufficiency
HP:0000121Nephrocalcinosis
HP:0000135Hypogonadism
HP:0000488Retinopathy
HP:0000585Band keratopathy
HP:0000787Nephrolithiasis
HP:0001510Growth delay
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002748Rickets
HP:0002749Osteomalacia
HP:0002901Hypocalcemia
HP:0003076Glycosuria
HP:0003109Hyperphosphaturia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003458EMG: myopathic abnormalities
HP:0011968Feeding difficulties
HP:0012072Aciduria
Периодический (5–29%)17
HP:0001942Metabolic acidosis
HP:0000027Azoospermia
HP:0000505Visual impairment
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001288Gait disturbance
HP:0001409Portal hypertension
HP:0001738Exocrine pancreatic insufficiency
HP:0001945Fever
HP:0001952Glucose intolerance
HP:0002019Constipation
HP:0002024Malabsorption
HP:0002381Aphasia
HP:0002902Hyponatremia
HP:0003234Decreased circulating carnitine concentration
HP:0006824Cranial nerve paralysis
HP:0012093Abnormality of endocrine pancreas physiology
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.59 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.1 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.52 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.87 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)