Fungal lung infectious disease

Summary

Fungal lung infectious disease (MONDO:0005766) is a disease (an umbrella term covering 5 Mondo subtypes) with 6 GWAS associations across 5 studies and 6 clinical trials. Top therapeutic interventions include itraconazole, posaconazole, and hyoscyamine. A subtype of fungal infectious disease — 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: 6
• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	fungal lung infectious disease
Mondo ID	MONDO:0005766
EFO	EFO:0007278
MeSH	D008172
UMLS	C0024116
MedGen	6144
Is cancer (heuristic)	no

Also known as: fungal disease, pulmonary · fungal diseases, pulmonary · fungal infection, pulmonary · fungal infections, pulmonary · fungal lung disease · fungal lung diseases · Fungi caused lung disease · Fungi lung disease · lung disease, fungal · pulmonary fungal disease · pulmonary fungal diseases · pulmonary fungal infection · pulmonary fungal infections

Data availability: 6 GWAS associations (5 studies).

Disease family

This is a subtype of fungal infectious disease. 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 etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › fungal infectious disease › fungal lung infectious disease

Related subtypes (17): cutaneous mycosis, systemic mycosis, fungal esophagitis, opportunistic mycosis, fungal gastritis, Pneumocystis infectious disease, sporotrichosis, fungal meningitis, fungal myositis, scedosporiosis, fungal infection of eye, mycotic endocarditis, mycotoxicosis, alternariosis, invasive scopulariopsis infection, emergomycosis, fungal discitis

Subtypes (5): adiaspiromycosis, pulmonary aspergilloma, cork-handlers’ disease, maple bark strippers’ lung, pneumocystosis

Genetics & variants

GWAS landscape

6 GWAS associations across 5 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs570821042	6e-14	CHD1-DT - LINC02113	A	3.57
rs374244906	5e-13	LRRTM4	C	3.21
rs567335184	6e-12	TRPM5	C	2.67
rs377366255	1e-11	TG	C	2.9
rs550609436	3e-11	NUCKS1 - RAB29	T	2.76
rs115050257	3e-07	NAV2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478123	Verma A	2024	1,297	446,537	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480243	Verma A	2024	424	120,597	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482074	Verma A	2024	424	120,597	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652030	Liu TY	2025	215	198,125	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436214	Zhou W	2018	98	398,538	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	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	5
unknown	0

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	2
5_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs570821042	5	99292281	A>G	0	intergenic_variant	CHD1-DT - LINC02113	6e-14	Tier 4: intronic/intergenic
rs374244906	2	77521708	C>A,T	0	5_prime_UTR_variant	LRRTM4	5e-13	Tier 2: splice/UTR
rs567335184	11	2406250	C>G,T	0	intron_variant	TRPM5	6e-12	Tier 4: intronic/intergenic
rs377366255	8	132990511	C>A	0	intron_variant	TG	1e-11	Tier 4: intronic/intergenic
rs550609436	1	205766874	T>C	0.001	intergenic_variant	NUCKS1 - RAB29	3e-11	Tier 4: intronic/intergenic
rs115050257	11	19779534	G>A,T	0.05	intron_variant	NAV2	3e-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: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01823289	PHASE4	COMPLETED	An Efficacy and Safety Study of Itraconazole Sequential Therapy (Intravenous Injection Followed by Oral Solution) in Invasive Pulmonary Fungal Infections
NCT00342589	Not specified	COMPLETED	New Techniques for Using a Saline Wash as a Diagnostic Tool for Pneumocystis Pneumonia
NCT01958710	Not specified	UNKNOWN	Outcome After Treatment of Pulmonary Aspergilloma
NCT02318524	Not specified	COMPLETED	Clinical Impact of Fungal Domestic Environmental Exposure on COPD Patients
NCT04725942	Not specified	COMPLETED	Posaconazole for Pulmonary Fungal Infection Prophylaxis in Hematopoietic Stem Cell Transplantation Patients
NCT05897294	Not specified	NO_LONGER_AVAILABLE	Voriconazole Inhalation Powder for the Treatment of Pulmonary Aspergillosis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ITRACONAZOLE	4	1
POSACONAZOLE	4	1
HYOSCYAMINE	-1	1