RGDs registry under the 'Respiratory disorders'
| Disorder Name (Total=11) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Idiopathic pulmonary fibrosis |
Pneumonitis |
TERT telomerase reverse transcriptase |
Reports Updated as of May 24, 2023 |
PubMed | |
| Hereditary pulmonary alveolar proteinosis Autosomal recessive |
•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 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Pulmonary venoocclusive disease Autosomal recessive |
•Pulmonary veno-occlusive disease |
Lower respiratory tract disorder |
BMPR2 bone morphogenetic protein receptor type 2 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pulmonary alveolar microlithiasis Autosomal recessive |
Lower respiratory tract disorder |
SLC34A2 solute carrier family 34 member 2 |
Reports Updated as of Jan 04, 2024 |
PubMed | |
| Primary ciliary dyskinesia Autosomal dominant, Autosomal recessive, X-linked dominant |
•Kartagener syndrome •ciliary motility disorder •immotile ciliary syndrome •syndrome •Kartagener's syndrome • PCD |
Ciliopathy |
DNAAF1 dynein axonemal assembly factor 1 RSPH4A radial spoke head component 4A DNAAF2 dynein axonemal assembly factor 2 DNAI2 dynein axonemal intermediate chain 2 DNAH11 dynein axonemal heavy chain 11 DNAH5 dynein axonemal heavy chain 5 DNAL1 dynein axonemal light chain 1 CCDC39 coiled-coil domain 39 molecular ruler complex subunit CCDC40 coiled-coil domain 40 molecular ruler complex subunit DNAAF3 dynein axonemal assembly factor 3 CCDC103 coiled-coil domain containing 103 ODAD1 outer dynein arm docking complex subunit 1 DNAAF5 dynein axonemal assembly factor 5 HYDIN HYDIN axonemal central pair apparatus protein DNAAF11 dynein axonemal assembly factor 11 DRC1 dynein regulatory complex subunit 1 ZMYND10 zinc finger MYND-type containing 10 ODAD2 outer dynein arm docking complex subunit 2 RSPH1 radial spoke head component 1 RSPH9 radial spoke head component 9 DNAAF4 dynein axonemal assembly factor 4 SPAG1 sperm associated antigen 1 CCDC65 coiled-coil domain containing 65 CFAP298 cilia and flagella associated protein 298 CCNO cyclin O ODAD3 outer dynein arm docking complex subunit 3 RSPH3 radial spoke head 3 GAS8 growth arrest specific 8 DNAI1 dynein axonemal intermediate chain 1 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein DNAH8 dynein axonemal heavy chain 8 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ODAD4 outer dynein arm docking complex subunit 4 NME8 NME/NM23 family member 8 RPGR retinitis pigmentosa GTPase regulator OFD1 OFD1 centriole and centriolar satellite protein SPEF2 sperm flagellar 2 DNAH1 dynein axonemal heavy chain 1 DNAH9 dynein axonemal heavy chain 9 DAW1 dynein assembly factor with WD repeats 1 DNAAF6 dynein axonemal assembly factor 6 CFAP221 cilia and flagella associated protein 221 CFAP57 cilia and flagella associated protein 57 MPEG1 macrophage expressed 1 GAS2L2 growth arrest specific 2 like 2 NFKB1 nuclear factor kappa B subunit 1 CENPF centromere protein F |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Mesothelioma, malignan Somatic mutation |
•Pleural mesothelioma •Malignant mesothelioma |
Lower respiratory tract disorder |
WT1 WT1 transcription factor |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Congenital diaphragmatic hernia Autosomal recessive |
•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 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Familial spontaneous pneumothorax Autosomal dominant |
•Pneumothorax, primary spontaneous |
Lower respiratory tract disorder |
FLCN folliculin |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Kartagener syndrome Autosomal recessive |
•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 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Fetal akinesia deformation sequence 3 Autosomal recessive |
•DOK7-Related Fetal Akinesia Deformation Sequence |
Thorax malformation |
DOK7 docking protein 7 DOCK7 dedicator of cytokinesis 7 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Fetal akinesia deformation sequence 1 Autosomal recessive |
•Lethal Pena-Shokeir 1 syndrome •Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome •Fetal akinesia sequence •Pena Shokeir syndrome, type 1 •Pena-Shokeir syndrome type I |
Thorax malformation |
MUSK muscle associated receptor tyrosine kinase DOK7 docking protein 7 RAPSN receptor associated protein of the synapse ASCC1 activating signal cointegrator 1 complex subunit 1 VPS13D vacuolar protein sorting 13 homolog D ASPM assembly factor for spindle microtubules CHRNG cholinergic receptor nicotinic gamma subunit ASAH1 N-acylsphingosine amidohydrolase 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 GLDN gliomedin |
Reports Updated as of Feb 01, 2025 |
PubMed |