Pneumonitis

Summary

Pneumonitis (MONDO:0043905) is a disease (an umbrella term covering 6 Mondo subtypes) with 4 GWAS associations across 13 studies and 18 clinical trials. Top therapeutic interventions include amifostine, pirfenidone, and tocilizumab. A subtype of lung 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: 4
• Clinical trials: 18

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pneumonitis
Mondo ID	MONDO:0043905
EFO	EFO:1001991
ICD-11	1324545867
NCIT	C113159
SNOMED CT	205237003
UMLS	C3714636
MedGen	811420
Is cancer (heuristic)	no

Also known as: inflammation of lung parenchyma · lung parenchyma inflammation · pneumonitis

Data availability: 4 GWAS associations (13 studies).

Disease family

This is a subtype of lung 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 › lung disorder › pneumonitis

Related subtypes (32): aspiration pneumonia, lung abscess, pneumonic plague, pulmonary alveolar proteinosis, pulmonary systemic sclerosis, obstructive lung disease, bronchiolitis, pulmonary immaturity, rheumatoid arthritis-associated interstitial lung disease, pulmonary embolism and infarction, acute chest syndrome, fungal lung infectious disease, middle lobe syndrome, pulmonary coin lesion, pulmonary plasma cell granuloma, silo filler disease, pulmonary alveolar microlithiasis, pulmonary venoocclusive disease, acute lung injury, interstitial lung disease, hantavirus pulmonary syndrome, pulmonary non-tuberculous mycobacterial infection, respiratory failure, lung neoplasm, occupational lung disease, Wilson-Mikity syndrome, neonatal aspiration syndrome, vanishing lung syndrome, restrictive pulmonary disease, shrinking lung syndrome, dystrophic pulmonary ossification, pulmonary artery disease

Subtypes (6): aspiration pneumonitis, toxic pneumonitis, pneumonia, ichthyosis prematurity syndrome, hypersensitivity pneumonitis, radiation pneumonitis

Genetics & variants

GWAS landscape

4 GWAS associations across 13 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs868105448	3e-15	CACNA1C	C	2.79
rs559426158	6e-12	BCL2L13	C	2.08
rs190190954	1e-11	GPX1P2 - EIF4A1P1	G	3.4
rs35677911	2e-07	SH3RF3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473719	UK Biobank Whole-Genome Sequencing Consortium	2025	3,893	454,547	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90478153	Verma A	2024	3,326	441,653	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652028	Liu TY	2025	1,441	224,406	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90080144	Backman JD	2021	1,140	386,749	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084130	Backman JD	2021	1,140	386,749	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080143	Backman JD	2021	1,101	386,829	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084129	Backman JD	2021	1,101	386,829	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90478152	Verma A	2024	587	119,867	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480256	Verma A	2024	587	119,867	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436229	Zhou W	2018	586	397,411	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	3
unknown	0

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs868105448	12	2529383	C>A	0.001	intron_variant	CACNA1C	3e-15	Tier 4: intronic/intergenic
rs559426158	22	17714249	C>A,T	0.003	intron_variant	BCL2L13	6e-12	Tier 4: intronic/intergenic
rs190190954	21	27295510	G>C	0.001	intergenic_variant	GPX1P2 - EIF4A1P1	1e-11	Tier 4: intronic/intergenic
rs35677911	2	109159144	T>TA	0.05	intron_variant	SH3RF3	2e-07	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: 18.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	10
PHASE2	4
PHASE4	2
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02246361	PHASE4	COMPLETED	Impact of Six Patient Information Leaflets (PIL) on Doctor Patient Communication
NCT03962725	PHASE4	TERMINATED	Avoiding Neuromuscular Blockers to Reduce Complications
NCT05455034	PHASE1/PHASE2	RECRUITING	Single-cell Sequencing of BLF to Guide the Treatment of Radiation Pneumonitis or Immune Checkpoint Inhibitor Pneumonitis
NCT06860542	PHASE2	RECRUITING	Inhaled Budesonide for REcurrence Prevention and Adjuvant THerapy in Checkpoint Inhibitor Pneumonitis
NCT00081315	PHASE2	COMPLETED	Subcutaneous Amifostine (Ethyol®) in the Prevention of Radiochemotherapy-Induced Esophagitis and Pneumonitis in Patients With Unresectable Non-Small Cell Lung Cancer
NCT04370834	PHASE2	TERMINATED	Tocilizumab for Patients With Cancer and COVID-19 Disease
NCT04590547	PHASE2	COMPLETED	GLS-1027 for the Prevention of Severe Pneumonitis Caused by SARS-CoV-2 Infection (COVID-19)
NCT05280873	PHASE1	UNKNOWN	Pirfenidone Combined With Methylprednisolone Versus Methylprednisolone in the Treatment of CIP
NCT06670872	Not specified	NOT_YET_RECRUITING	A Study on the Combination Therapy of Eravacycline for Treating Carbapenem-Resistant Acinetobacter Baumannii Pneumonia
NCT06688422	Not specified	RECRUITING	Incentive Spirometry to Improve Outcomes in Lung Cancer Patients Undergoing Concurrent Chemotherapy and Radiation Therapy
NCT00997555	Not specified	COMPLETED	Prophylactic Bronchoscopy After Inhalation Injury in Burn Patients
NCT02788643	Not specified	COMPLETED	Study of Collagen IV and XIX in Bronchoalveolar Lavage, Pulmonary Aspiration and Bronchial Biopsies
NCT03012958	Not specified	COMPLETED	Utility of Lung Clearance Index Score as a Noninvasive Marker of Deployment Lung Disease
NCT03730428	Not specified	COMPLETED	Everolimus Related Pneumonitis in MBC
NCT04040244	Not specified	TERMINATED	Exhaled Breath Analysis to Predict Risk of Symptomatic Pneumonitis
NCT04302688	Not specified	COMPLETED	Accurate Classification System for Patients With COVID-19 Pneumonitis
NCT04326725	Not specified	UNKNOWN	Proflaxis Using Hydroxychloroquine Plus Vitamins-Zinc During COVID-19 Pandemia
NCT04721444	Not specified	COMPLETED	Optimising Cancer Therapy And Identifying Causes of Pneumonitis USing Artificial Intelligence (COVID-19)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AMIFOSTINE	4	1
PIRFENIDONE	4	1
TOCILIZUMAB	4	1
VGX-1027	2	1