Pulmonary arteriovenous malformation
ORPHA:2038Morphological anomalyMultigenic/multifactorial, UnknownInfancy
Фенотипы (HPO)28
Очень частый (80–99%)2
HP:0001009Telangiectasia
HP:0004952Pulmonary arteriovenous fistulas
Частый (30–79%)6
HP:0001892Abnormal bleeding
HP:0002094Dyspnea
HP:0002140Ischemic stroke
HP:0002326Transient ischemic attack
HP:0012151Hemothorax
HP:0012418Hypoxemia
Периодический (5–29%)16
HP:0000421Epistaxis
HP:0000961Cyanosis
HP:0001217Clubbing
HP:0001658Myocardial infarction
HP:0001891Iron deficiency anemia
HP:0001962Palpitations
HP:0001977Abnormal thrombosis
HP:0002076Migraine
HP:0002092Pulmonary arterial hypertension
HP:0002105Hemoptysis
HP:0006689Bacterial endocarditis
HP:0011919Pleural empyema
HP:0012735Cough
HP:0030049Brain abscess
HP:0030148Heart murmur
HP:0040223Pulmonary hemorrhage
Очень редкий (1–4%)4
HP:0001250Seizure
HP:0002722Recurrent abscess formation
HP:0005244Gastrointestinal infarctions
HP:0100523Liver abscess
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)