AApoAIV amyloidosis
ORPHA:439232DiseaseNot applicableAdult
Фенотипы (HPO)30
Очень частый (80–99%)2
HP:0003259Elevated circulating creatinine concentration
HP:0100957Abnormal renal medulla morphology
Частый (30–79%)5
HP:0000822Hypertension
HP:0001917Renal amyloidosis
HP:0012622Chronic kidney disease
HP:0030872Abnormal cardiac ventricular function
HP:0032613Renal interstitial amyloid deposits
Периодический (5–29%)16
HP:0000093Proteinuria
HP:0000096Glomerulosclerosis
HP:0000819Diabetes mellitus
HP:0001639Hypertrophic cardiomyopathy
HP:0001677Coronaryartery atherosclerosis
HP:0001712Left ventricular hypertrophy
HP:0003077Hyperlipidemia
HP:0003418Back pain
HP:0006510Chronic pulmonary obstruction
HP:0011024Abnormality of the gastrointestinal tract
HP:0011713Left bundle branch block
HP:0012664Reduced left ventricular ejection fraction
HP:0031047Paraproteinemia
HP:0031546Cardiac conduction abnormality
HP:0032092Left ventricular outflow tract obstruction
HP:0034807Paroxysmal nocturnal dyspnea
Очень редкий (1–4%)7
HP:0001688Sinus bradycardia
HP:0002088Abnormal lung morphology
HP:0004381Supravalvular aortic stenosis
HP:0004749Atrial flutter
HP:0005110Atrial fibrillation
HP:0012309Cutaneous amyloidosis
HP:0030843Cardiac amyloidosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <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)