hereditary pulmonary alveolar proteinosis
Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.
MONDO:0001437
pulmonary alveolar proteinosis
is_a
MONDO:0003847
hereditary disease
is_a
congenital PAP
exact
congenital pulmonary alveolar proteinosis
exact
hereditary pulmonary alveolar proteinosis
exact
inborn error of pulmonary surfactant metabolism
exact
inborn error of surfactant metabolism
exact
pulmonary alveolar proteinosis, congenital
related
SPBC17A3.04c