RGDs registry under the 'Respiratory disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Idiopathic pulmonary fibrosis | Pneumonitis |
TERT telomerase reverse transcriptase |
PubMed | Reports | |
| 2 | Hereditary pulmonary alveolar proteinosis |
•Pulmonary surfactant metabolism dysfunction •Congenital PAP •Congenital pulmonary alveolar proteinosis |
Thorax disorders |
SFTPB surfactant protein B SFTPC surfactant protein C ABCA3 ATP binding cassette subfamily A member 3 |
PubMed | Reports |
| 3 | Pulmonary venoocclusive disease |
•Pulmonary veno-occlusive disease |
Lower respiratory tract disorder |
BMPR2 bone morphogenetic protein receptor type 2 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 |
PubMed | Reports |
| 4 | Pulmonary alveolar microlithiasis | Lower respiratory tract disorder |
SLC34A2 solute carrier family 34 member 2 |
PubMed | Reports | |
| 5 | Ciliary dyskinesia |
•Primary ciliary dyskinesia •PCD |
Ciliopathy |
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein DNAAF6 dynein axonemal assembly factor 6 CFAP300 cilia and flagella associated protein 300 DNAH1 dynein axonemal heavy chain 1 LRRC56 leucine rich repeat containing 56 DNAH9 dynein axonemal heavy chain 9 FOXJ1 forkhead box J1 NEK10 NIMA related kinase 10 TTC12 tetratricopeptide repeat domain 12 STK36 serine/threonine kinase 36 TP73 tumor protein p73 NME5 NME/NM23 family member 5 CFAP74 cilia and flagella associated protein 74 DNAH7 dynein axonemal heavy chain 7 CLXN calaxin |
PubMed | Reports |
| 6 | Mesothelioma, malignan |
•Pleural mesothelioma •Malignant mesothelioma |
Lower respiratory tract disorder |
WT1 WT1 transcription factor |
PubMed | Reports |
| 7 | Congenital diaphragmatic hernia |
•CDH |
Diaphragm disorders |
PAX3 paired box 3 FREM1 FRAS1 related extracellular matrix 1 FBN1 fibrillin 1 FREM2 FRAS1 related extracellular matrix 2 LZTR1 leucine zipper like post translational regulator 1 PLS3 plastin 3 |
PubMed | Reports |
| 8 | Familial spontaneous pneumothorax |
•Pneumothorax, primary spontaneous |
Lower respiratory tract disorder |
FLCN folliculin |
PubMed | Reports |
| 9 | Kartagener syndrome |
•Dextrocardia bronchiectasis and sinusitis •Immotile cilia syndrome • Ciliary dyskinesia, primary, 1 •Ciliary dyskinesia, primary, 1, with or without situs inversus •Polynesian bronchiectasis •Primary ciliary dyskinesia 1: DNAI1-related primary ciliary dyskinesia •Siewert syndrome |
Ciliopathy |
DNAI1 dynein axonemal intermediate chain 1 DNAH1 dynein axonemal heavy chain 1 DNAH5 dynein axonemal heavy chain 5 CCDC40 coiled-coil domain 40 molecular ruler complex subunit ODAD3 outer dynein arm docking complex subunit 3 DRC1 dynein regulatory complex subunit 1 |
PubMed | Reports |
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