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GENATLAS PHENOTYPE

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

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function	non-sense, missence and splicing mutations

Remark(s)

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))