Main genes and proteins currently implicated in childhood interstitial lung disease (chILD) groups, their mode of transmission and the associated phenotypes
| Gene (protein) | Inheritance pattern | Phenotypes |
| Inherited surfactant disorders | ||
| SFTPA1, SFTPA2 | AD | Very rarely chILD, adult ILD and adenocarcinoma of the lung |
| SFTPB | AR | Neonatal respiratory distress ± PH |
| SFTPC | AD | Neonatal respiratory distress; ILD in infants or children, adults |
| ABCA3 | AR | Neonatal respiratory distress ± PH; ILD in infants or children, adults |
| NKX2-1 | AD | Brain–lung–thyroid syndrome |
| PAP | ||
| MARS | AR | PAP; hepatomegaly with cholestasis, anaemia, neurological impairment |
| CSF2RA, CSF2RB | GR and AR | PAP (infants, children, adults) |
| GATA2 | AR | Secondary PAP; immune deficiency with myelodysplasia |
| Autoinflammatory disorders | ||
| TMEM173 | AD | Early chILD with autoimmune and inflammatory disease ± joint and skin involvement |
| COPA | AD | Early chILD or DAH with autoimmune and inflammatory disease ± joint and kidney involvement |
| ZNFX1 | chILD with severe viral infections, neurological symptoms, thrombotic microangiopathy | |
| OAS1 | AD | PAP with immunodeficiency and autoinflammation |
| Other chILD | ||
| FLNA | GA and GD | chILD with emphysema; cardiac abnormalities, neurological impairment; girls>boys |
| NHLRC2 | AR | FINCA |
| Diffuse abnormalities of lung development | ||
| FOXF1 | AD | chILD with PH; alveolar capillary dysplasia ± misalignment of pulmonary veins |
| TBX4, FGFR2 | AD and AR | chILD with PH; acinar dysplasia |
| EIF2AK4 | AR | chILD with PH; pulmonary haemangiomatosis; veno-occlusive disease |
AR: autosomal recessive; AD: autosomal dominant; GR: gonosomal recessive; GD: gonosomal dominant; PH: pulmonary hypertension; PAP: pulmonary alveolar proteinosis; DAH: diffuse alveolar haemorrhage; FINCA: fibrosis, neurodegeneration and cerebral angiomatosis.