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

MONDO:0800135

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.

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