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GENATLAS PHENOTYPE
last update : 28-09-2013
Symbol SMDP2
Location 8p21.3
Name surfactant metabolism dysfunction, pulmonary 2
Other name(s) congenital pulmonary alveolar proteinosis infantile pulmonary alveolar proteinosis
Corresponding gene SFTPC
Other symbol(s) IPAP1, CPAP3
Main clinical features severe respiratory insufficiency or failure in full-term neonates or infants
Genetic determination autosomal recessive
Related entries SMPD1, SMPD3
Function/system disorder respiratory
Type disease
Gene product
Name surfactant, pulmonary-associated protein C
Remark(s) distinct from respiratory distress syndrome (RDS; 267450), which affects preterm infants with hyaline membrane disease