Lower respiratory tract disorder
diseaseOn this page
Also known as disease of lower respiratory tractdisease or disorder of lower respiratory tractdisorder of lower respiratory tractlower respiratory tract diseaselower respiratory tract disease or disorder
Summary
Lower respiratory tract disorder (MONDO:0000270) is a disease (an umbrella term covering 5 Mondo subtypes) with 95 GWAS associations across 17 studies and 5 clinical trials. Top therapeutic interventions include respiratory syncytial virus pre-fusion glycoprotein f. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 95
- Clinical trials: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lower respiratory tract disorder |
| Mondo ID | MONDO:0000270 |
| EFO | EFO:0009433 |
| DOID | DOID:0050161 |
| ICD-11 | 1582386590 |
| SNOMED CT | 128272009 |
| UMLS | C1290325 |
| MedGen | 712703 |
| Anatomy (UBERON) | UBERON:0001558 |
| Is cancer (heuristic) | no |
Also known as: disease of lower respiratory tract · disease or disorder of lower respiratory tract · disorder of lower respiratory tract · lower respiratory tract disease · lower respiratory tract disease or disorder
Data availability: 95 GWAS associations (17 studies).
Disease family
This is a subtype of respiratory system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder
Related subtypes (58): respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, pulmonary tuberculosis, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis
Subtypes (5): bronchial disorder, pleural disorder, tracheal disorder, lung disorder, tracheobronchitis
Genetics & variants
GWAS landscape
95 GWAS associations across 17 studies. Top hits map to 0 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr6:32636347 | 2e-92 | A | 0.11 | |
| chr9:6197392 | 4e-55 | C | 0.09 | |
| chr17:39907128 | 2e-52 | T | 0.08 | |
| chr2:102353207 | 2e-51 | T | 0.11 | |
| chrX:1243320 | 3e-51 | A | 0.11 | |
| chr15:67150258 | 4e-44 | T | 0.08 | |
| chr2:241759225 | 4e-44 | A | 0.08 | |
| chr5:111066174 | 5e-44 | C | 0.08 | |
| chr10:9011169 | 5e-39 | T | 0.07 | |
| chr11:76582714 | 6e-38 | A | 0.07 | |
| chr16:11119164 | 3e-29 | A | 0.07 | |
| chr6:90258306 | 3e-28 | A | 0.06 | |
| chr1:152312600 | 2e-27 | C | 0.18 | |
| chr4:122134547 | 3e-27 | ATT | 0.06 | |
| chr5:132639353 | 1e-25 | CA | 0.07 | |
| chr12:57095926 | 2e-23 | C | 0.08 | |
| chr16:27361610 | 7e-19 | C | 0.05 | |
| chr19:33235671 | 1e-18 | A | 0.09 | |
| chr8:80383509 | 5e-18 | T | 0.05 | |
| chr3:188684609 | 2e-17 | T | 0.06 | |
| chr4:38797027 | 9e-17 | A | 0.05 | |
| chr17:49302124 | 2e-15 | C | 0.04 | |
| chr15:60777789 | 9e-15 | T | 0.06 | |
| chr1:167461956 | 4e-14 | A | 0.04 | |
| chr3:33001221 | 5e-14 | T | 0.04 | |
| chr13:99417239 | 6e-14 | A | 0.05 | |
| chr2:8301605 | 1e-13 | G | 0.04 | |
| chr5:142115574 | 2e-13 | C | 0.04 | |
| chr10:6016360 | 9e-13 | G | 0.04 | |
| chr12:71130161 | 3e-12 | T | 0.04 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473701 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 91,830 | 366,610 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667755 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 91,830 | 366,610 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90080101 | Backman JD | 2021 | 31,920 | 328,167 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084087 | Backman JD | 2021 | 31,920 | 328,167 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90103410 | Fitzgerald T | 2022 | 21,743 | 149,014 | CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank. |
| GCST90281159 | Hamilton FW | 2023 | 14,135 | 472,349 | Therapeutic potential of IL6R blockade for the treatment of sepsis and sepsis-related death: A Mendelian randomisation study. |
| GCST90473702 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,946 | 7,667 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473698 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,618 | 7,597 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473725 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,039 | 457,401 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90281164 | Hamilton FW | 2023 | 702 | 485,782 | Therapeutic potential of IL6R blockade for the treatment of sepsis and sepsis-related death: A Mendelian randomisation study. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 50 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 50 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 50 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr6:32636347 | 2e-92 | Tier 4: intronic/intergenic | ||||||
| chr9:6197392 | 4e-55 | Tier 4: intronic/intergenic | ||||||
| chr17:39907128 | 2e-52 | Tier 4: intronic/intergenic | ||||||
| chr2:102353207 | 2e-51 | Tier 4: intronic/intergenic | ||||||
| chrX:1243320 | 3e-51 | Tier 4: intronic/intergenic | ||||||
| chr15:67150258 | 4e-44 | Tier 4: intronic/intergenic | ||||||
| chr2:241759225 | 4e-44 | Tier 4: intronic/intergenic | ||||||
| chr5:111066174 | 5e-44 | Tier 4: intronic/intergenic | ||||||
| chr10:9011169 | 5e-39 | Tier 4: intronic/intergenic | ||||||
| chr11:76582714 | 6e-38 | Tier 4: intronic/intergenic | ||||||
| chr16:11119164 | 3e-29 | Tier 4: intronic/intergenic | ||||||
| chr6:90258306 | 3e-28 | Tier 4: intronic/intergenic | ||||||
| chr1:152312600 | 2e-27 | Tier 4: intronic/intergenic | ||||||
| chr4:122134547 | 3e-27 | Tier 4: intronic/intergenic | ||||||
| chr5:132639353 | 1e-25 | Tier 4: intronic/intergenic | ||||||
| chr12:57095926 | 2e-23 | Tier 4: intronic/intergenic | ||||||
| chr16:27361610 | 7e-19 | Tier 4: intronic/intergenic | ||||||
| chr19:33235671 | 1e-18 | Tier 4: intronic/intergenic | ||||||
| chr8:80383509 | 5e-18 | Tier 4: intronic/intergenic | ||||||
| chr3:188684609 | 2e-17 | Tier 4: intronic/intergenic | ||||||
| chr4:38797027 | 9e-17 | Tier 4: intronic/intergenic | ||||||
| chr17:49302124 | 2e-15 | Tier 4: intronic/intergenic | ||||||
| chr15:60777789 | 9e-15 | Tier 4: intronic/intergenic | ||||||
| chr1:167461956 | 4e-14 | Tier 4: intronic/intergenic | ||||||
| chr3:33001221 | 5e-14 | Tier 4: intronic/intergenic | ||||||
| chr13:99417239 | 6e-14 | Tier 4: intronic/intergenic | ||||||
| chr2:8301605 | 1e-13 | Tier 4: intronic/intergenic | ||||||
| chr5:142115574 | 2e-13 | Tier 4: intronic/intergenic | ||||||
| chr10:6016360 | 9e-13 | Tier 4: intronic/intergenic | ||||||
| chr12:71130161 | 3e-12 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 5.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
| PHASE3 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04908683 | PHASE3 | COMPLETED | A Study of an Adenovirus Serotype 26 Pre-fusion Conformation-stabilized F Protein (Ad26. RSV. preF) Based Respiratory Syncytial Virus (RSV) Vaccine in the Prevention of Lower Respiratory Tract Disease in Adults Aged 60 Years and Older |
| NCT07295028 | PHASE1 | ACTIVE_NOT_RECRUITING | Study of an RSV-hMPV-PIV3 Trivalent Vaccine Candidate VXB-251 in Older Adults |
| NCT07122661 | Not specified | ACTIVE_NOT_RECRUITING | STudy of Real World vaccinE Effectiveness of maTernal RSVpreF vaccinatiON Against Respiratory Syncytial Virus (RSV) in Hospitalised Infants in Australia (STREETON) |
| NCT07445763 | Not specified | NOT_YET_RECRUITING | TARSILA Real-World Evidence Study |
| NCT06924528 | Not specified | COMPLETED | The Effects Of Toy In Chıldren Durıng Inhaler Therapy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| RESPIRATORY SYNCYTIAL VIRUS PRE-FUSION GLYCOPROTEIN F | 4 | 1 |