Aspergillosis
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Summary
Aspergillosis (MONDO:0005657) is a disease with 2 GWAS associations across 5 studies and 52 clinical trials. Top therapeutic interventions include voriconazole, caspofungin, and micafungin. A subtype of opportunistic mycosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- GWAS associations: 2
- Phenotypes (HPO): 56
- Clinical trials: 52
Clinical features
Signs & symptoms
Clinical features (HPO)
56 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0012735 | Cough | Very frequent (80-99%) |
| HP:0020153 | Positive blood 1,3 beta glucan test | Very frequent (80-99%) |
| HP:0001875 | Decreased total neutrophil count | Frequent (30-79%) |
| HP:0001880 | Eosinophilia | Frequent (30-79%) |
| HP:0001945 | Fever | Frequent (30-79%) |
| HP:0002105 | Hemoptysis | Frequent (30-79%) |
| HP:0002113 | Pulmonary infiltrates | Frequent (30-79%) |
| HP:0002721 | Immunodeficiency | Frequent (30-79%) |
| HP:0006528 | Chronic lung disease | Frequent (30-79%) |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | Frequent (30-79%) |
| HP:0030878 | Abnormality on pulmonary function testing | Frequent (30-79%) |
| HP:0032016 | Abnormal sputum | Frequent (30-79%) |
| HP:0032177 | Parenchymal consolidation | Frequent (30-79%) |
| HP:0100749 | Chest pain | Frequent (30-79%) |
| HP:0000077 | Abnormality of the kidney | Occasional (5-29%) |
| HP:0000246 | Sinusitis | Occasional (5-29%) |
| HP:0000491 | Keratitis | Occasional (5-29%) |
| HP:0000505 | Visual impairment | Occasional (5-29%) |
| HP:0000620 | Dacryocystitis | Occasional (5-29%) |
| HP:0001626 | Abnormality of the cardiovascular system | Occasional (5-29%) |
| HP:0001742 | Nasal congestion | Occasional (5-29%) |
| HP:0002031 | Abnormal esophagus morphology | Occasional (5-29%) |
| HP:0002090 | Pneumonia | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002099 | Asthma | Occasional (5-29%) |
| HP:0002102 | Pleuritis | Occasional (5-29%) |
| HP:0002206 | Pulmonary fibrosis | Occasional (5-29%) |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0003212 | Increased circulating IgE level | Occasional (5-29%) |
| HP:0004377 | Hematological neoplasm | Occasional (5-29%) |
| HP:0006510 | Chronic pulmonary obstruction | Occasional (5-29%) |
| HP:0006516 | Hypersensitivity pneumonitis | Occasional (5-29%) |
| HP:0011355 | Localized skin lesion | Occasional (5-29%) |
| HP:0012115 | Hepatitis | Occasional (5-29%) |
| HP:0020103 | Invasive pulmonary aspergillosis | Occasional (5-29%) |
| HP:0031417 | Rhinorrhea | Occasional (5-29%) |
| HP:0100326 | Immunologic hypersensitivity | Occasional (5-29%) |
| HP:0200026 | Ocular pain | Occasional (5-29%) |
| HP:0000629 | Periorbital fullness | Very rare (<1-4%) |
| HP:0000772 | Abnormal rib morphology | Very rare (<1-4%) |
| HP:0000925 | Abnormality of the vertebral column | Very rare (<1-4%) |
| HP:0001250 | Seizure | Very rare (<1-4%) |
| HP:0001287 | Meningitis | Very rare (<1-4%) |
| HP:0001297 | Stroke | Very rare (<1-4%) |
| HP:0002110 | Bronchiectasis | Very rare (<1-4%) |
| HP:0002170 | Intracranial hemorrhage | Very rare (<1-4%) |
| HP:0002202 | Pleural effusion | Very rare (<1-4%) |
| HP:0002383 | Infectious encephalitis | Very rare (<1-4%) |
| HP:0002693 | Abnormality of the skull base | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | aspergillosis |
| Mondo ID | MONDO:0005657 |
| EFO | EFO:0007157 |
| MeSH | D001228 |
| Orphanet | 1163 |
| DOID | DOID:13564 |
| ICD-10-CM | B44 |
| ICD-11 | 1913468488 |
| NCIT | C2886 |
| SNOMED CT | 65553006 |
| UMLS | C0004030 |
| MedGen | 13939 |
| GARD | 0005856 |
| MedDRA | 10003488 |
| NORD | 814 |
| Is cancer (heuristic) | no |
Data availability: 2 GWAS associations (5 studies).
Disease family
This is a subtype of opportunistic mycosis. 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 › opportunistic mycosis › aspergillosis
Related subtypes (11): phaeohyphomycosis, candidiasis, maple bark strippers’ lung, cryptococcosis, geotrichosis, microsporidiosis, fusariosis, pneumocystosis, Zygomycosis, opportunistic systemic mycosis, hyalohyphomycosis
Subtypes (4): pulmonary aspergilloma, neuroaspergillosis, allergic bronchopulmonary aspergillosis, aspergillus niger infection
Genetics & variants
GWAS landscape
2 GWAS associations across 5 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 |
|---|---|---|---|---|
| rs113993960 | 8e-23 | CFTR | ? | 6.13 |
| rs6502632 | 8e-08 | DRC3, ATPAF2 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473087 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 456 | 457,984 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90481465 | Verma A | 2024 | 424 | 450,659 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651804 | Liu TY | 2025 | 299 | 223,436 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90435562 | Zhou W | 2018 | 163 | 406,301 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90837483 | Koyama S | 2025 | 0 | 0 | Genetics and context for precision health in Greater Boston. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| inframe_insertion | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs113993960 | 7 | 117559591 | ATCT>A,ATCTTCT | 0.05 | inframe_insertion | CFTR | 8e-23 | Tier 1: coding |
| rs6502632 | 17 | 18009743 | T>A,C | 0.05 | intron_variant | DRC3, ATPAF2 | 8e-08 | 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
4 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Amphotericin B | Approved (phase 4) |
| Itraconazole | Approved (phase 4) |
| Posaconazole | Approved (phase 4) |
| Voriconazole | Approved (phase 4) |
| Anidulafungin | Phase 3 (in late-stage trials) |
| Fluconazole | Phase 3 (in late-stage trials) |
| Isavuconazole | Phase 3 (in late-stage trials) |
| Olorofim | Phase 3 (in late-stage trials) |
| Pyrrole | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Caspofungin, INTERFERON GAMMA-1B, Ibrexafungerp, Micafungin.
Clinical trials & evidence
Clinical trials
Clinical trials: 52.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 20 |
| PHASE2 | 11 |
| PHASE3 | 10 |
| PHASE4 | 5 |
| PHASE2/PHASE3 | 4 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00423163 | PHASE4 | WITHDRAWN | A Study to Evaluate the Effectiveness of Voriconazole + Micafungin Versus Voriconazole Alone for Invasive Aspergillosis |
| NCT00620074 | PHASE4 | TERMINATED | Study to Test the Combination of Voriconazole and Anidulafungin in Patients Who Have, or Are Thought to Have, Invasive Aspergillosis and Who Are Unable to Take a Common Antifungal Therapy (Polyene) |
| NCT00647907 | PHASE4 | COMPLETED | A Study of the Efficacy and Safety of Voriconazole for the Treatment of Fungal Infections |
| NCT00940017 | PHASE4 | COMPLETED | A Study To Assess The Anidulafungin And Voriconazole Concentration In Lung Following Intravenous Administration In Healthy Subjects |
| NCT02646800 | PHASE4 | TERMINATED | Post Marketing Study to Evaluate the Safety and Efficacy of Micafungin Against Fungal Infections Caused by Candida Spp or Aspergillus Spp |
| NCT00001646 | PHASE3 | COMPLETED | Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis |
| NCT00001810 | PHASE3 | COMPLETED | An Open Label, Non-Comparative, Multicenter, Phase III Trial of the Efficacy, Safety and Toleration of Voriconazole in the Primary or Secondary Treatment of Invasive Fungal Infections |
| NCT00001937 | PHASE3 | COMPLETED | Comparing the Effectiveness of Fluconazole and a New Medicine (FK463) in Preventing Fungal Infections in Bone Marrow Transplant Patients |
| NCT00037206 | PHASE2/PHASE3 | COMPLETED | A Safety & Effectiveness Study of Intravenous Anidulafungin With AmBisome® for Treatment of Invasive Aspergillosis (IA). |
| NCT00159822 | PHASE2/PHASE3 | COMPLETED | Voriconazole For Chronic Bronchopulmonary Aspergillosis |
| NCT00263315 | PHASE2/PHASE3 | COMPLETED | Inhalation of Liposomal Amphotericin B to Prevent Invasive Aspergillosis |
| NCT00361517 | PHASE3 | COMPLETED | To Determine Whether Galactomannan Test Will Help to Detect Fungal Infections Early and Hence Start Treatment Early |
| NCT00412893 | PHASE3 | COMPLETED | Isavuconazole (BAL8557) for Primary Treatment of Invasive Aspergillosis |
| NCT00531479 | PHASE3 | COMPLETED | Anidulafungin Plus Voriconazole Versus Voriconazole For The Treatment Of Invasive Aspergillosis |
| NCT00634049 | PHASE3 | COMPLETED | Isavuconazole in the Treatment of Renally Impaired Aspergillosis and Rare Fungi |
| NCT00784368 | PHASE3 | COMPLETED | A Pharmacokinetic Study of JK1211(Itraconazole [Itrizole]) Oral Solution in Participants With Deep Mycosis and Those With Febrile Neutropenia Suspected of Fungal Infection |
| NCT01188759 | PHASE3 | WITHDRAWN | Voriconazole And Anidulafungin Combination For Invasive Aspergillosis In Pediatric Subjects |
| NCT02180165 | PHASE3 | COMPLETED | Assessing the Safety and Efficacy of MK-5592 (Posaconazole) in Japanese Participants With Fungal Infection (MK-5592-101) |
| NCT04966234 | PHASE2/PHASE3 | UNKNOWN | A New Posaconazole Dosing Regimen for Paediatric Patients With Cystic Fibrosis and Aspergillus Infection |
| NCT05653193 | PHASE2 | RECRUITING | Interferon-gamma as Adjunctive Therapy in Chronic Pulmonary Aspergillosis: a Randomised Feasibility Study |
| NCT00005668 | PHASE2 | COMPLETED | A Multicenter, Prospective, Randomized, Double-Blind Clinical Trial Comparing Itraconazole Oral Solution in Cyclodextrin to Placebo in the Treatment of Aspergilloma |
| NCT00036166 | PHASE2 | COMPLETED | Study of FK463 for the Treatment of Invasive Aspergillosis |
| NCT00047827 | PHASE2 | TERMINATED | Trial of Micafungin (FK463) in Combination With Liposomal Amphotericin B (AmBisome) for Aspergillosis |
| NCT00076869 | PHASE2 | COMPLETED | MK0991 in Combination With Standard Antifungal Agent(s) for the Treatment of Salvage Invasive Aspergillosis (0991-037) |
| NCT00082524 | PHASE2 | COMPLETED | Documented Candida or Aspergillus Infections in Pediatric Patients (0991-043) |
| NCT01165320 | PHASE2 | COMPLETED | A Study of Caspofungin (MK-0991) in Japanese Children and Adolescents With Documented Candida or Aspergillus Infections (MK-0991-074) |
| NCT01207128 | PHASE2 | WITHDRAWN | Trial of Combination Antifungal Therapy (Vori+Mica vs. Vori+Placebo) in Invasive Aspergillosis |
| NCT01887457 | PHASE2 | SUSPENDED | Individualisation of Voriconazole Antifungal Therapy Antifungal Therapy |
| NCT03870841 | PHASE2 | TERMINATED | The Effect of PC945 on Aspergillus Fumigatus Lung Infection in Patients With Cystic Fibrosis |
| NCT03905447 | PHASE2 | TERMINATED | The Effect of Early Treatment of PC945 on Aspergillus Fumigatus Lung Infection in Lung Transplant Patients. |
| NCT00005912 | PHASE1 | COMPLETED | Voriconazole to Prevent Systemic Fungal Infections in Children |
| NCT02715570 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability and Pharmacokinetics of Single and Repeat Doses of PC945 |
| NCT03828773 | Not specified | RECRUITING | PTX3-targeted Antifungal Prophylaxis |
| NCT05045391 | Not specified | ACTIVE_NOT_RECRUITING | Pulmonary Aspergillosis in Tuberculosis Patients |
| NCT07080359 | Not specified | NOT_YET_RECRUITING | Isavuconazole in Critically Ill Patients: Efficacy and Safety |
| NCT00388167 | Not specified | COMPLETED | Acetato de Caspofungin (Cancidas®) in the Treatment of Fungal Infection |
| NCT00460330 | Not specified | UNKNOWN | Evaluate Three Methods for Diagnosis of Invasive Fungal Infection in Chinese Patients After HSCT |
| NCT00473252 | Not specified | COMPLETED | Surveillance of Fungal Infections During Construction Activity |
| NCT00854607 | Not specified | COMPLETED | An Observational Study of Fungal Biomarkers (MK-0000-089) |
| NCT01315925 | Not specified | UNKNOWN | Pre-hospital Risk Factors for Invasive Fungal Infection |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| VORICONAZOLE | 4 | 14 |
| CASPOFUNGIN | 4 | 6 |
| MICAFUNGIN | 4 | 6 |
| ANIDULAFUNGIN | 4 | 5 |
| POSACONAZOLE | 4 | 4 |
| AMPHOTERICIN B | 4 | 2 |
| ITRACONAZOLE | 4 | 2 |
| DEOXYCHOLIC ACID | 4 | 1 |
| FLUCONAZOLE | 4 | 1 |
| ISAVUCONAZOLE | 3 | 3 |
| OPELCONAZOLE | 3 | 2 |
| SILVER | 3 | 1 |
| CHEMBL3760049 | 0 | 5 |
| CHEMBL4750941 | 0 | 2 |
| CHEMBL499808 | 0 | 2 |
| CHEMBL5267205 | 0 | 1 |
| DEOXYCHOLATE | -1 | 1 |
| HYOSCYAMINE | -1 | 1 |