Acute tonsillitis
diseaseOn this page
Also known as acute adenoiditisinfective tonsillitis
Summary
Acute tonsillitis (MONDO:0020686) is a disease with 20 GWAS associations across 10 studies and 6 clinical trials. Top therapeutic interventions include amoxicillin and andrographolide. A subtype of tonsillitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 20
- Clinical trials: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | acute tonsillitis |
| Mondo ID | MONDO:0020686 |
| ICD-10-CM | J03 |
| ICD-11 | 260431605 |
| NCIT | C97142 |
| SNOMED CT | 17741008 |
| UMLS | C0001361 |
| MedGen | 472878 |
| Is cancer (heuristic) | no |
Also known as: acute adenoiditis · acute tonsillitis · infective tonsillitis
Data availability: 20 GWAS associations (10 studies).
Disease family
This is a subtype of tonsillitis. 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 › upper respiratory tract disorder › tonsillitis › acute tonsillitis
Related subtypes (1): adenoiditis
Genetics & variants
GWAS landscape
20 GWAS associations across 10 studies. Top hits map to 6 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs538837352 | 5e-15 | EGFEM1P | A | 3.38 |
| rs143736485 | 4e-14 | RAPGEF5 | G | 2.79 |
| rs144728371 | 4e-13 | SYT9 | G | 3.69 |
| rs142735475 | 2e-12 | PLA2G4A - LINC01036 | G | 3.78 |
| rs187654860 | 1e-11 | ASAP1 - ADCY8 | A | 2.19 |
| rs149932975 | 2e-11 | CISTR - RN7SKP289 | A | 2.32 |
| rs186233056 | 3e-11 | LINC02782 - MIR4689 | G | 2.05 |
| rs552949394 | 3e-11 | GTF3AP6 - LINC02476 | G | 2.92 |
| rs537579281 | 4e-11 | LINC02755 | T | 2.6 |
| rs151159185 | 4e-11 | BRD2 | T | 2.97 |
| rs182495440 | 5e-11 | ZNF479 | C | 3.72 |
| chr1:8193207 | 7e-10 | CA | 0.17 | |
| chr2:111429464 | 1e-08 | G | 0.07 | |
| chr22:45860455 | 1e-08 | G | 0.1 | |
| chr6:98996699 | 1e-08 | G | 2.15 | |
| chr1:170013818 | 2e-08 | C | 0.44 | |
| chrX:116212180 | 3e-08 | C | 2.39 | |
| chr1:221992567 | 4e-08 | G | 0.09 | |
| chr5:17982807 | 4e-08 | C | 0.89 | |
| rs72636835 | 1e-07 | DISP3 - LINC01647 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473643 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 18,473 | 439,967 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667902 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 18,473 | 439,967 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90651836 | Liu TY | 2025 | 3,157 | 185,643 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90478099 | Verma A | 2024 | 721 | 447,813 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436202 | Zhou W | 2018 | 614 | 390,045 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478098 | Verma A | 2024 | 517 | 119,658 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480236 | Verma A | 2024 | 517 | 119,658 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473644 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 302 | 9,311 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90482065 | Verma A | 2024 | 301 | 58,660 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473642 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 264 | 8,951 | Whole-genome sequencing of 490,640 UK Biobank participants. |
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 | 20 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 11 |
| unknown | 8 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 9 |
| unknown | 8 |
| intergenic_variant | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs538837352 | 3 | 168681760 | A>G | 0.001 | intron_variant | EGFEM1P | 5e-15 | Tier 4: intronic/intergenic |
| rs143736485 | 7 | 22281784 | G>T | 0.001 | intron_variant | RAPGEF5 | 4e-14 | Tier 4: intronic/intergenic |
| rs144728371 | 11 | 7351483 | G>A,C,T | 0 | intron_variant | SYT9 | 4e-13 | Tier 4: intronic/intergenic |
| rs142735475 | 1 | 187062972 | G>A | 0 | intergenic_variant | PLA2G4A - LINC01036 | 2e-12 | Tier 4: intronic/intergenic |
| rs187654860 | 8 | 130626362 | A>G | 0.002 | intron_variant | ASAP1 - ADCY8 | 1e-11 | Tier 4: intronic/intergenic |
| rs149932975 | 12 | 53802842 | A>G | 0.001 | intron_variant | CISTR - RN7SKP289 | 2e-11 | Tier 4: intronic/intergenic |
| rs186233056 | 1 | 5488708 | G>A | 0.001 | intron_variant | LINC02782 - MIR4689 | 3e-11 | Tier 4: intronic/intergenic |
| rs552949394 | 7 | 118928591 | G>A | 0.001 | intergenic_variant | GTF3AP6 - LINC02476 | 3e-11 | Tier 4: intronic/intergenic |
| rs537579281 | 11 | 29387429 | T>C | 0 | intron_variant | LINC02755 | 4e-11 | Tier 4: intronic/intergenic |
| rs151159185 | 6 | 32977086 | T>C | 0.001 | intron_variant | BRD2 | 4e-11 | Tier 4: intronic/intergenic |
| rs182495440 | 7 | 57124299 | C>A,T | 0.001 | intron_variant | ZNF479 | 5e-11 | Tier 4: intronic/intergenic |
| chr1:8193207 | 7e-10 | Tier 4: intronic/intergenic | ||||||
| chr2:111429464 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr22:45860455 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr6:98996699 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr1:170013818 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chrX:116212180 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr1:221992567 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chr5:17982807 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| rs72636835 | 1 | 11584095 | A>C,T | 0.05 | intergenic_variant | DISP3 - LINC01647 | 1e-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 |
|---|---|
| PHASE4 | 3 |
| Not specified | 2 |
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01363531 | PHASE4 | COMPLETED | Clinical Trial for the Assessment of Delayed Antibiotic Treatment Strategies |
| NCT03134443 | PHASE4 | UNKNOWN | Evaluate the Efficacy and Safety of Andrographolide Sulfonate in Patients With Acute Tonsillitis |
| NCT03704506 | PHASE4 | UNKNOWN | Registration of the Study of Reyanning Mixture |
| NCT04682964 | PHASE3 | ACTIVE_NOT_RECRUITING | Bacteriophage Therapy in Tonsillitis |
| NCT02715037 | Not specified | UNKNOWN | Microbiology of Severe Acute Tonsillitis, Peritonsillar Cellulitis, and Infectious Mononucleosis |
| NCT04537819 | Not specified | COMPLETED | Study of Imupret Application in the Technology of Delayed Prescription of Antibiotics in Patients With Acute Tonsillitis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| AMOXICILLIN | 4 | 1 |
| ANDROGRAPHOLIDE | 3 | 1 |
Related Atlas pages
- Drugs: Amoxicillin, Andrographolide