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Neonatal acute respiratory distress syndrome

ORPHA:217563DiseaseAutosomal recessiveNeonatal

Ассоциированные гены (2)

SFTPB
surfactant protein B
Disease-causing germline mutation(s) (loss of function) in
OMIM: 178640
ABCA3
ATP binding cassette subfamily A member 3
Disease-causing germline mutation(s) in
OMIM: 601615

Фенотипы (11)

Очень частый (80–99%)4
HP:0002643Neonatal respiratory distress
HP:0002789Tachypnea
HP:0006517Intraalveolar phospholipid accumulation
HP:0006530Abnormal pulmonary interstitial morphology
Частый (30–79%)3
HP:0002092Pulmonary arterial hypertension
HP:0002113Pulmonary infiltrates
HP:0031457Pulmonary opacity
Периодический (5–29%)4
HP:0001667Right ventricular hypertrophy
HP:0004876Spontaneous neonatal pneumothorax
HP:0006515Interstitial pneumonitis
HP:0006528Chronic lung disease

Эпидемиология (2)

Point prevalence
Unknown
Worldwide
Prevalence at birth
<1 / 1 000 000
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы