congenital emphysematous lung disease due to Filamin A loss-of-function variant

Rare Disease

MONDO:0800135

Definition

Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.