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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 mutation	Chromosome rearrangement	Effect	Comments
unknown			dominant negative mutation

Remark(s)