Pulmonary capillary hemangiomatosis
ORPHA:199241DiseaseAutosomal dominant, Autosomal recessive, Not applicableAll ages
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)6
HP:0002716Lymphadenopathy
HP:0005954Pulmonary capillary hemangiomatosis
HP:0025104Capillary malformation
HP:0025179Ground-glass opacification on pulmonary HRCT
HP:0030879Interlobular septal thickening on pulmonary HRCT
HP:0045051Decreased DLCO
Частый (30–79%)14
HP:0000961Cyanosis
HP:0001708Right ventricular failure
HP:0002094Dyspnea
HP:0002105Hemoptysis
HP:0002875Exertional dyspnea
HP:0004890Elevated pulmonary artery pressure
HP:0010741Pedal edema
HP:0012151Hemothorax
HP:0012418Hypoxemia
HP:0025180Centrilobular ground-glass opacification on pulmonary HRCT
HP:0025420Diffuse alveolar hemorrhage
HP:0030968Abnormal pulmonary vein morphology
HP:0100721Mediastinal lymphadenopathy
HP:0100759Clubbing of fingers
Периодический (5–29%)2
HP:0002202Pleural effusion
HP:0100598Pulmonary edema
Очень редкий (1–4%)1
HP:0001698Pericardial effusion
Исключён (0%)2
HP:0003493Antinuclear antibody positivity
HP:0032230Cytoplasmic antineutrophil antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)