Bronchial disorder

Summary

Bronchial disorder (MONDO:0001358) is a disease (an umbrella term covering 6 Mondo subtypes) with 14 GWAS associations across 5 studies and 25 clinical trials. Top therapeutic interventions include albuterol, fluticasone propionate, and salmeterol. A subtype of lower respiratory tract disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes
• GWAS associations: 14
• Clinical trials: 25

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bronchial disorder
Mondo ID	MONDO:0001358
EFO	EFO:1002018
MeSH	D001982
DOID	DOID:1176
NCIT	C34439
SNOMED CT	41427001
UMLS	C0006261
MedGen	14233
Anatomy (UBERON)	UBERON:0002185
Is cancer (heuristic)	no

Also known as: bronchial disorder · bronchospasm · bronchus disease · bronchus disease or disorder · disease of bronchus · disease or disorder of bronchus · disorder of bronchus

Data availability: 14 GWAS associations (5 studies).

Disease family

This is a subtype of lower respiratory tract 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 › bronchial disorder

Related subtypes (4): pleural disorder, tracheal disorder, lung disorder, tracheobronchitis

Subtypes (6): bronchial neoplasm, bronchitis, bronchiectasis, asthma, non-syndromic bridging bronchus, non-syndromic congenital bronchial atresia

Genetics & variants

GWAS landscape

14 GWAS associations across 5 studies. Top hits map to 10 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs369560956	9e-14	FPGT-TNNI3K, TNNI3K	T	3.35
rs560712160	1e-12	PPFIBP2	C	3.47
rs553269748	2e-12	ZFHX3-AS1, ZFHX3	G	4.19
rs61995716	2e-12	EPG5, SIGLEC15	C	3.96
rs561627945	3e-12	LINC00111	G	3.27
rs537246055	5e-12	LINC00487 - NRIR	G	2.56
rs551927988	5e-12	COX7A2P2 - STPG2	T	3.21
rs555007917	5e-12	RPL13AP25 - LINC02335	G	3.12
rs185159483	8e-12	STIM2 - LINC02261	C	3.34
rs565148900	1e-11	RN7SL685P - SLEAR	A	2.18
rs552869313	3e-11	TILAM - SUMO2P7	C	3.62
rs191615042	3e-11	KRT18P19 - WDR75	A	2.2
rs538185065	3e-11	NPAS3	G	3.38
rs565767796	4e-11	KANK2	T	4.87

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90246119	Walters RG	2023	1,319	75,017	Genotyping and population characteristics of the China Kadoorie Biobank.
GCST90478149	Verma A	2024	702	446,298	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480255	Verma A	2024	266	120,306	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482082	Verma A	2024	266	120,306	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90044077	Jiang L	2021	229	456,119	A generalized linear mixed model association tool for biobank-scale data.

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	1
Tier 4: intronic/intergenic	13

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	14
unknown	0

Functional consequences

Consequence	Count
intron_variant	8
intergenic_variant	4
synonymous_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs369560956	1	74421434	T>C	0.001	intron_variant	FPGT-TNNI3K, TNNI3K	9e-14	Tier 4: intronic/intergenic
rs560712160	11	7611395	C>A	0.001	intron_variant	PPFIBP2	1e-12	Tier 4: intronic/intergenic
rs553269748	16	72800415	G>A,T	0.001	intron_variant	ZFHX3-AS1, ZFHX3	2e-12	Tier 4: intronic/intergenic
rs61995716	18	45839076	C>T	0.001	synonymous_variant	EPG5, SIGLEC15	2e-12	Tier 4: intronic/intergenic
rs561627945	21	41692918	G>A	0.001	intron_variant	LINC00111	3e-12	Tier 4: intronic/intergenic
rs537246055	2	6802745	G>A	0.001	intergenic_variant	LINC00487 - NRIR	5e-12	Tier 4: intronic/intergenic
rs551927988	4	96931024	T>C	0	intergenic_variant	COX7A2P2 - STPG2	5e-12	Tier 4: intronic/intergenic
rs555007917	13	54538842	G>A	0	intergenic_variant	RPL13AP25 - LINC02335	5e-12	Tier 4: intronic/intergenic
rs185159483	4	27048322	C>A	0	regulatory_region_variant	STIM2 - LINC02261	8e-12	Tier 3: regulatory
rs565148900	8	100969817	A>T	0.001	intergenic_variant	RN7SL685P - SLEAR	1e-11	Tier 4: intronic/intergenic
rs552869313	17	50234442	C>A,T	0	intron_variant	TILAM - SUMO2P7	3e-11	Tier 4: intronic/intergenic
rs191615042	2	189407243	A>G	0.001	intron_variant	KRT18P19 - WDR75	3e-11	Tier 4: intronic/intergenic
rs538185065	14	33305074	G>A	0	intron_variant	NPAS3	3e-11	Tier 4: intronic/intergenic
rs565767796	19	11172233	T>C	0.001	intron_variant	KANK2	4e-11	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

Drugs indicated for this disease

0 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Ambroxol Acefyllinate	Phase 3 (in late-stage trials)
Azithromycin	Phase 3 (in late-stage trials)
Levodropropizine	Phase 3 (in late-stage trials)
Syrup	Phase 3 (in late-stage trials)
Theobromine	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 25.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	15
PHASE4	3
PHASE2	3
PHASE3	1
PHASE2/PHASE3	1
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00118690	PHASE4	COMPLETED	A Study Measuring Asthma Control In Pediatric And Adolescent Subjects Whose Asthma Is Worsened By Activity Or Exercise
NCT00118716	PHASE4	COMPLETED	A Study Measuring Asthma Control In Pediatric And Adolescent Subjects Whose Asthma Is Worsened By Activity Or Exercise
NCT03962725	PHASE4	TERMINATED	Avoiding Neuromuscular Blockers to Reduce Complications
NCT00634829	PHASE3	TERMINATED	Single-Dose Cross-Over Study of the Effects of Albuterol-HFA in Exercise Induced Bronchoconstriction
NCT03000413	PHASE2/PHASE3	COMPLETED	Ketamine Efficacy for Acute Severe Bronchospasm in ICU: MACANUDO Trial
NCT00890162	PHASE2	COMPLETED	A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis
NCT01174732	PHASE2	COMPLETED	Dose-Ranging Study of A006 DPI, in Adult Asthma Patients
NCT01188577	PHASE1/PHASE2	COMPLETED	Epinephrine Inhalation Aerosol USP, a HFA-MDI Study for Assessment of Pharmacokinetics
NCT01189396	PHASE2	COMPLETED	Escalating and Cumulative-Dose Study of Pharmacokinetics (PK), Pharmacodynamics (PD) and Safety of A006
NCT00400660	PHASE1	COMPLETED	A First Time In Human Study To Assess The Compound GSK615915
NCT07186933	Not specified	RECRUITING	Driving Pressure During Surgeries With High Risk for Postoperative Pulmonary Complications
NCT07211529	Not specified	RECRUITING	Intraoperative Paravertebral Block and Postoperative Complications
NCT00806455	Not specified	COMPLETED	Exercise-Induced Bronchospasm in Cystic Fibrosis
NCT01156701	Not specified	COMPLETED	Prophylactic Efficacy of Relenza Against Influenza A and B
NCT01488643	Not specified	UNKNOWN	Observational Study on Obese Patients During General Anesthesia
NCT02090205	Not specified	UNKNOWN	Mechanical Ventilation During Cardiac Surgery
NCT02419196	Not specified	COMPLETED	Perioperative Change of Regional Ventilation During Spontaneous Breathing
NCT02779595	Not specified	COMPLETED	Change of Regional Ventilation During Spontaneous Breathing After Lung Surgery
NCT03064659	Not specified	COMPLETED	Driving Pressure And EFL in Adult Cardiac Surgery
NCT04373499	Not specified	COMPLETED	Virtual Teach-to-Goal Education vs. Brief Education for Children
NCT04427605	Not specified	COMPLETED	Efficacy and Safety of Continuous Infusion of Ketamine in Pediatric Intensive Care Unit (KISS Study)
NCT05025709	Not specified	COMPLETED	Bronchospasm During Anesthetic Induction: Study of Clinical Characteristics and Treatments Administered According to Etiology
NCT05360810	Not specified	COMPLETED	Wei Nasal Jet Tube vs Gastro Laryngeal Tube in Endoscopic Retrograde Cholangiopancreatography
NCT05555134	Not specified	COMPLETED	INHALATION CHAMBER MANAGEMENT IN PEDIATRICS: EFFICACY OF AN EDUCATIONAL INTERVENTION IN PATIENTS DIAGNOSED WITH BRONCHOSPASM AND THEIR FAMILY CAREGIVERS.
NCT05783050	Not specified	COMPLETED	Wei Nasal Jet Tube vs Nasal Cannula Oxygen Support in Gastrointestinal Endoscopy Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ALBUTEROL	4	2
FLUTICASONE PROPIONATE	4	2
SALMETEROL	4	2
RACEPINEPHRINE	2	1