Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in type II epithelial cells and characterized by respiratory distress after birth. Congenital PAP is also associated with mutations in CSF2RA and CSF2RB genes, encoding alpha and beta chains of the GM-CSF receptor.
Category
Respiratory system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
Respiratory diseases principally affecting the lung interstitium
CB04 Primary interstitial lung diseases specific to infancy or childhood
H01122 Congenital pulmonary alveolar proteinosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H01122 Congenital pulmonary alveolar proteinosis
A similar but histopathologically distinct disorder of surfactant homeostasis can occur with mutations for the genes encoding surfactant proteins B or C [DS:H00217].