Hereditary pulmonary alveolar proteinosis

MONDO:0012580

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.

Also known as: congenital PAP, congenital pulmonary alveolar proteinosis, hereditary pulmonary alveolar proteinosis, inborn error of pulmonary surfactant metabolism, inborn error of surfactant metabolism, pulmonary alveolar proteinosis, congenital, sufactant metabolism dysfunction, pulmonary

30 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Sub-types

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (3) Chronic respiratory distress with surfactant metabolism deficiency (0) Interstitial lung disease due to ABCA3 deficiency (0) SFTPC-related interstitial lung disease (0) Surfactant metabolism dysfunction, pulmonary, 1 (0) Surfactant metabolism dysfunction, pulmonary, 2 (0) Surfactant metabolism dysfunction, pulmonary, 4 (0) Surfactant metabolism dysfunction, pulmonary, 5 (0)

Broader categories

Disease (618) Lung disorder (225) Hereditary disease (172) Respiratory system disorder (127) Lower respiratory tract disorder (16) Human disease (14) Pulmonary alveolar proteinosis (9) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 11

Hereditary pulmonary alveolar proteinosis

Sub-types

Broader categories

New breath test could replace painful lung scopes

Brain scans reveal hidden links between body diseases and metabolism

Rare disease study pulled before starting: scientists sought clues in cell stress