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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 28-09-2013
Symbol FILD
Location 8p21.2
Name familial interstitial lung disease
Other name(s) pneumonitis, desquamative interstitial
Corresponding gene SFTPC
Other symbol(s) DIP
Main clinical features presenting as chronic pneumonitis in infancy
Genetic determination autosomal dominant
Function/system disorder respiratory
Type disease
Gene product
Name surfactant, pulmonary-associated protein C
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
unknown     dominant negative mutation
Remark(s)