Paroxysmal nocturnal hemoglobinuria
ORPHA:447DiseaseNot applicableAll ages
Ассоциированные гены1
Фенотипы (HPO)44
Облигатный (100%)1
HP:0030272Abnormal erythrocyte enzyme activity
Очень частый (80–99%)4
HP:0001878Hemolytic anemia
HP:0001903Anemia
HP:0003641Hemoglobinuria
HP:0025406Asthenia
Частый (30–79%)17
HP:0001907Thromboembolism
HP:0001923Reticulocytosis
HP:0002094Dyspnea
HP:0002315Headache
HP:0002574Episodic abdominal pain
HP:0002625Deep venous thrombosis
HP:0003138Increased blood urea nitrogen
HP:0004936Venous thrombosis
HP:0008282Unconjugated hyperbilirubinemia
HP:0012543Hemosiderinuria
HP:0012622Chronic kidney disease
HP:0020181Reduced haptoglobin level
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0032106Conjunctival icterus
HP:0032147Erythromelalgia
HP:0040303Decreased serum iron
HP:0100749Chest pain
Периодический (5–29%)18
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000802Impotence
HP:0000822Hypertension
HP:0000952Jaundice
HP:0001254Lethargy
HP:0001297Stroke
HP:0001658Myocardial infarction
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001882Leukopenia
HP:0001919Acute kidney injury
HP:0002204Pulmonary embolism
HP:0002639Budd-Chiari syndrome
HP:0004420Arterial thrombosis
HP:0012132Erythroid hyperplasia
HP:0030248Mesenteric venous thrombosis
HP:0032043Odynophagia
Очень редкий (1–4%)4
HP:0001994Renal Fanconi syndrome
HP:0002015Dysphagia
HP:0003076Glycosuria
HP:0025271Esophageal spasms
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.35 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.81 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)