Features include always present findings: Ground-glass opacification and Reticular pattern on pulmonary HRCT; and very common findings: Intraalveolar phospholipid accumulation and Neonatal respiratory distress. 26 total HPO annotations.

ABCA3 encodes ATP binding cassette subfamily A member 3 (1,704 aa). Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary surfactant. Highest expression in Lung (104.9 TPM) and Brain Cerebellum (83.5 TPM).

Interstitial lung disease due to ABCA3 deficiency is caused by mutations in the ABCA3 gene on chromosome 16.

ABCA3 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 0.5.

99 pathogenic variants reported in ABCA3 in ClinVar, including hotspot variants 973875 and 884983.

Genetic testing for ABCA3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for interstitial lung disease due to ABCA3 deficiency has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 very common features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for interstitial lung disease due to ABCA3 deficiency.

14 publications have been identified in PubMed for interstitial lung disease due to ABCA3 deficiency. Research spans Basic Science / Preclinical (36%), Case Report / Case Series (21%), and Epidemiology / Natural History (14%).