| COPA syndrome; autoimmune interstitial lung, joint, and kidney disease (AILJK) | #616414 | 1q23.2 | COPA | Autosomal dominant | DLD, haemorrhage, lymphocytic interstitial infiltration, ground-glass opacities on X-ray (8) DAH, DPLD (100% cases) (9) |
| Hermansky–Pudlak syndrome (1, 2, 4) | #203300, #608233, #614073 | 10q24.2, 5q14.1, 22q12.1 | HPS1, AP3B1, HPS4 | Autosomal recessive | Restrictive lung disease, recurrent infections, pulmonary fibrosis has been described largely in affected individuals from northwestern Puerto Rico (10); typically manifesting in the early 30s |
| Chitayat syndrome (CHYTS) | #617180 | 19q13.2 | ERF | Autosomal dominant | Respiratory distress at birth, bronchomalacia and (or) tracheomalacia, complicated by recurrent severe respiratory infections, obstructive pulmonary disease, ILD (11) |
| Dyskeratosis congenita (DKCA, DC), including Hoyeraal–Hreidarsson syndrome and Revesz syndrome | #613990, #613989, #127550, #305000 | 14q12, 5p15.33, 3q26.2, Xq28 | TINF2, TERT, TERC, DKC1 | Autosomal dominant (TINF2, TERT, TERC); Autosomal recessive (TERT); X-linked (DKC1) | Idiopathic pulmonary fibrosis (12) DC should be considered in young persons with idiopathic pulmonary fibrosis (13) |
| Brain–lung–thyroid syndrome (BLTS); choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) | #610978 | 14q13.3 | NKX2-1 | Autosomal dominant | ILD, neonatal respiratory distress, pulmonary fibrosis (14) |
| Interstitial lung and liver disease (ILLD) | #615486 | 12q13.3 | MARS | Autosomal recessive | ILD, lung fibrosis, pulmonary artery malformation (15); pulmonary alveolar proteinosis (16) |
| Neurodevelopmental disorder with brain, liver and lung abnormalities (NEDBLLA); Rajab syndrome | #618007 | 2q36.1 | FARSB | Autosomal recessive (Autosomalnie recesywne) | ILD (usually starts at the upper lobes), cholesterol pneumonitis (17) |
| - (reported in one patient so far) | - (reported once) | 2q36.2 | FARSA | Autosomal recessive | ILD with cholesterol pneumonitis, growth delay, hypotonia, brain calcifications with cysts and liver dysfunction (18) |
| Aarskog–Scott syndrome (AAS) | #305400 | Xp11.22 | FGD1 | X-linked recessive | ILD reported once (19) |
| Chromosome deletion syndrome, including 14q11-q22 region |
| 14q11-q22 | Contiguous gene deletion | Isolated cases | Heterogeneous phenotype, depending on the size, but, mostly, on the genes located within the deleted region |
