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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-09-2013
Symbol SMDP3
Location 16p13.3
Name surfactant metabolism dysfunction, pulmonary 3
Other name(s) fatal surfactant deficiency, ABCA3 deficiency
Corresponding gene ABCA3
Main clinical features severe respiratory insufficiency or failure in full-term neonates or infants
Genetic determination autosomal recessive
Related entries SMPD1, SMPD2
Function/system disorder respiratory
Type disease
Gene mutationChromosome rearrangementEffectComments
various types   abnormal protein/loss of function non-sense, missence and splicing mutations
  • distinct from respiratory distress syndrome (RDS; 267450), which affects preterm infants with hyaline membrane disease
  • mutations p.D253H and p.T1173R induced abnormal lamellar bodies (PMID: 22068586))