Mutations in the genes encoding Sftpb and Abca3 are associated with respiratory distress and interstitial lung disease in the pediatric population (SFTPB; Online Mendelian Inheritance in Man [OMIM] number 178640, ABCA3; OMIM number 601615) and mutations in the human SFTPA1 gene (c.655C>T (rs4253527)) increase the risk of idiopathic pulmonary fibrosis (http://www.ncbi.nlm.nih.gov/clinvar/RCV000014093.1/). Here, ABCA3 is linked to interstitial lung disease.