Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

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