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Autoimmune pulmonary alveolar proteinosis

ORPHA:747DiseaseMultigenic/multifactorial, Not applicableAdolescent, Adult, Childhood

Ассоциированные гены (1)

HLA-DRB1
major histocompatibility complex, class II, DR beta 1
Major susceptibility factor in
OMIM: 142857

Фенотипы (20)

Очень частый (80–99%)1
HP:0006517Intraalveolar phospholipid accumulation
Частый (30–79%)11
HP:0000961Cyanosis
HP:0001217Clubbing
HP:0002087Abnormality of the upper respiratory tract
HP:0002091Restrictive ventilatory defect
HP:0002094Dyspnea
HP:0003651Foam cells
HP:0010876Abnormal circulating protein level
HP:0012418Hypoxemia
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0030057Autoimmune antibody positivity
HP:0045051Decreased DLCO
Периодический (5–29%)3
HP:0012735Cough
HP:0025391Crazy paving pattern on pulmonary HRCT
HP:0030830Crackles
Очень редкий (1–4%)5
HP:0001824Weight loss
HP:0001945Fever
HP:0002105Hemoptysis
HP:0012378Fatigue
HP:0100749Chest pain

Эпидемиология (4)

Annual incidence
1-9 / 1 000 000
Japan
Point prevalence
1-9 / 1 000 000
Japan
Point prevalence
1-9 / 1 000 000
Worldwide
Point prevalence
1-9 / 1 000 000
United States

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы