interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
MONDO:0012580
hereditary pulmonary alveolar proteinosis
is_a
MONDO:0031199
inherited interstitial lung disease
is_a
SMDP3
related
interstitial lung disease due to ABCA3 deficiency
exact
interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
exact
surfactant metabolism dysfunction, pulmonary, 3
related
surfactant metabolism dysfunction, pulmonary, type 3
exact