Pericarditis
diseaseOn this page
Also known as inflammation of pericardiumpericarditis (disease)pericardium inflammation
Summary
Pericarditis (MONDO:0005904) is a disease (an umbrella term covering 6 Mondo subtypes) with 19 GWAS associations across 13 studies and 38 clinical trials. Top therapeutic interventions include colchicine, anakinra, and rilonacept. A subtype of pericardium 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: 19
- ClinVar variants: 1
- Clinical trials: 38
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pericarditis |
| Mondo ID | MONDO:0005904 |
| EFO | EFO:0007427 |
| MeSH | D010493 |
| Orphanet | 58208 |
| DOID | DOID:1787 |
| ICD-11 | 1296696944 |
| NCIT | C34915 |
| SNOMED CT | 3238004 |
| UMLS | C0031046 |
| MedGen | 18377 |
| Is cancer (heuristic) | no |
Also known as: inflammation of pericardium · pericarditis · pericarditis (disease) · pericardium inflammation
Data availability: 1 ClinVar variant · 19 GWAS associations (13 studies) · 1 HPO phenotype.
Disease family
This is a subtype of pericardium 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 › cardiovascular disorder › heart disorder › pericardium disorder › pericarditis
Related subtypes (2): pericardial effusion, neoplasm of pericardium
Subtypes (6): Histoplasma pericarditis, Dressler syndrome, pericardial tuberculosis, constrictive pericarditis, viral pericarditis, rheumatic pericarditis
Genetics & variants
GWAS landscape
19 GWAS associations across 13 studies. Top hits map to 13 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs552767609 | 6e-13 | GALNT16-AS1, EXD2 | A | 2.29 |
| rs556330122 | 8e-13 | HS3ST1 - LINC02360 | G | 2.32 |
| rs567746402 | 9e-13 | DNAJC8P3 - MIR4472-1 | G | 4.03 |
| rs567653481 | 3e-12 | COL25A1 | T | 2.79 |
| rs564094809 | 3e-12 | MIR3143 - RPL10P2 | C | 3.46 |
| rs148428765 | 5e-12 | MRPS21P6 - RPS27P18 | C | 3.04 |
| rs568031359 | 7e-12 | RN7SKP27 - LINC02923 | C | 3.05 |
| rs181673904 | 9e-12 | DPP4 | C | 3.94 |
| rs190370190 | 1e-11 | KCTD9P6 - RNA5SP261 | A | 2.4 |
| rs187698017 | 2e-11 | TRIP4 | C | 2.27 |
| rs544749498 | 2e-11 | RXRA | C | 3.11 |
| rs966455665 | 2e-11 | LINC02450 - MRPS36P5 | A | 2.66 |
| rs181429600 | 2e-11 | GLDN | A | 2.95 |
| rs560709118 | 2e-11 | RNA5SP443 - ARHGAP27 | A | 2.12 |
| rs772660139 | 2e-11 | SLC14A2-AS1, SLC14A2 | G | 2.77 |
| rs568455465 | 2e-11 | PEX10 - PLCH2 | A | 3.46 |
| rs183394800 | 3e-11 | ALDH1A2, LIPC-AS1, LIPC | G | 2.74 |
| rs144211882 | 4e-11 | RN7SL366P - C6orf118 | A | 3.01 |
| rs2895799 | 4e-11 | PTPRQ | C | 0.2 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477893 | Verma A | 2024 | 3,729 | 442,899 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90018896 | Sakaue S | 2021 | 1,795 | 453,370 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90436091 | Zhou W | 2018 | 1,273 | 405,779 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477892 | Verma A | 2024 | 1,246 | 119,287 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480145 | Verma A | 2024 | 1,246 | 119,287 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477894 | Verma A | 2024 | 769 | 449,707 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473554 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 673 | 457,767 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90481983 | Verma A | 2024 | 367 | 59,063 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480144 | Verma A | 2024 | 276 | 121,333 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481984 | Verma A | 2024 | 276 | 121,333 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
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 | 2 |
| Tier 4: intronic/intergenic | 17 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 18 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 13 |
| intergenic_variant | 3 |
| regulatory_region_variant | 2 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs552767609 | 14 | 69203273 | A>C | 0.002 | intron_variant | GALNT16-AS1, EXD2 | 6e-13 | Tier 4: intronic/intergenic |
| rs556330122 | 4 | 11557934 | G>A | 0.001 | intergenic_variant | HS3ST1 - LINC02360 | 8e-13 | Tier 4: intronic/intergenic |
| rs567746402 | 8 | 142108045 | G>A | 0 | non_coding_transcript_exon_variant | DNAJC8P3 - MIR4472-1 | 9e-13 | Tier 4: intronic/intergenic |
| rs567653481 | 4 | 108935005 | T>C,G | 0.001 | intron_variant | COL25A1 | 3e-12 | Tier 4: intronic/intergenic |
| rs564094809 | 6 | 27187745 | C>A,G,T | 0 | regulatory_region_variant | MIR3143 - RPL10P2 | 3e-12 | Tier 3: regulatory |
| rs148428765 | 10 | 125217698 | C>T | 0.001 | intron_variant | MRPS21P6 - RPS27P18 | 5e-12 | Tier 4: intronic/intergenic |
| rs568031359 | 2 | 23281900 | C>T | 0 | intergenic_variant | RN7SKP27 - LINC02923 | 7e-12 | Tier 4: intronic/intergenic |
| rs181673904 | 2 | 162002899 | C>T | 0 | intron_variant | DPP4 | 9e-12 | Tier 4: intronic/intergenic |
| rs190370190 | 8 | 31541341 | A>T | 0.001 | intron_variant | KCTD9P6 - RNA5SP261 | 1e-11 | Tier 4: intronic/intergenic |
| rs187698017 | 15 | 64390763 | C>A,T | 0.003 | intron_variant | TRIP4 | 2e-11 | Tier 4: intronic/intergenic |
| rs544749498 | 9 | 134347727 | C>T | 0 | intron_variant | RXRA | 2e-11 | Tier 4: intronic/intergenic |
| rs966455665 | 12 | 42830929 | A>G | 0.001 | intron_variant | LINC02450 - MRPS36P5 | 2e-11 | Tier 4: intronic/intergenic |
| rs181429600 | 15 | 51404072 | A>G | 0.001 | intron_variant | GLDN | 2e-11 | Tier 4: intronic/intergenic |
| rs560709118 | 17 | 45370462 | A>G | 0.001 | intron_variant | RNA5SP443 - ARHGAP27 | 2e-11 | Tier 4: intronic/intergenic |
| rs772660139 | 18 | 45432882 | G>C,T | 0 | intron_variant | SLC14A2-AS1, SLC14A2 | 2e-11 | Tier 4: intronic/intergenic |
| rs568455465 | 1 | 2417593 | A>G | 0.001 | intergenic_variant | PEX10 - PLCH2 | 2e-11 | Tier 4: intronic/intergenic |
| rs183394800 | 15 | 58460656 | G>C,T | 0 | intron_variant | ALDH1A2, LIPC-AS1, LIPC | 3e-11 | Tier 4: intronic/intergenic |
| rs144211882 | 6 | 165178309 | A>T | 0 | regulatory_region_variant | RN7SL366P - C6orf118 | 4e-11 | Tier 3: regulatory |
| rs2895799 | 12 | 80497071 | C>A | 0.135 | intron_variant | PTPRQ | 4e-11 | Tier 4: intronic/intergenic |
ClinVar germline variants
1 retrieved; paginated sample, class counts are floors:
1 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 3068593 | NM_000257.4(MYH7):c.5119A>G (p.Ile1707Val) | LOC126861897 | Uncertain significance | criteria provided, single submitter |
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
1 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Rilonacept | Approved (phase 4) |
| Anakinra | Phase 3 (in late-stage trials) |
| Colchicine | Phase 3 (in late-stage trials) |
| Goflikicept | Phase 3 (in late-stage trials) |
| Hydroxychloroquine | Phase 3 (in late-stage trials) |
| Prednisolone | Phase 3 (in late-stage trials) |
| Prednisone | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Cannabidiol.
Clinical trials & evidence
Clinical trials
Clinical trials: 38.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 18 |
| PHASE2 | 7 |
| PHASE3 | 6 |
| PHASE4 | 3 |
| PHASE2/PHASE3 | 3 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00235079 | PHASE4 | COMPLETED | Study of Colchicine to Treat and Prevent Recurrent Pericarditis After Failure of Conventional Treatment. |
| NCT00946907 | PHASE4 | TERMINATED | Benign Acute Pericarditis: Brief Versus Longer Treatment Using Aspirin |
| NCT04323280 | PHASE4 | TERMINATED | Dexamethasone Compared to Non-steroidal Anti-inflammatory Drugs in the Treatment of Acute Pericarditis |
| NCT05805930 | PHASE3 | NOT_YET_RECRUITING | Therapeutic Approach in Colchicine-resistant Recurrent pEricarditis in Children |
| NCT06708299 | PHASE3 | RECRUITING | CardiolRx in Recurrent Pericarditis (MAVERIC Phase-3) |
| NCT07010159 | PHASE2/PHASE3 | RECRUITING | Phase 2/3 Study of KPL-387 in Recurrent Pericarditis |
| NCT07245849 | PHASE3 | NOT_YET_RECRUITING | Pericardial Imaging Study |
| NCT00128414 | PHASE3 | COMPLETED | Study of Colchicine to Treat and Prevent Recurrent Pericarditis (First Episode) |
| NCT00128453 | PHASE3 | COMPLETED | Study of Colchicine to Treat Acute Pericarditis and Prevent Recurrences |
| NCT03737110 | PHASE3 | COMPLETED | Study to Assess the Efficacy and Safety of Rilonacept Treatment in Participants With Recurrent Pericarditis |
| NCT04692766 | PHASE2/PHASE3 | COMPLETED | Study to Evaluate the Efficacy and Safety of RPH-104 Treatment in Patients With Idiopathic Recurrent Pericarditis |
| NCT05107934 | PHASE2/PHASE3 | SUSPENDED | Efficacy and Safety of RPH-104 Treatment in Patients With Recurrent Pericarditis |
| NCT06836232 | PHASE2 | RECRUITING | An Open-Label Pilot Study of VTX2735 in Recurrent Pericarditis |
| NCT07288216 | PHASE2 | RECRUITING | Transition to KPL-387 Monotherapy Dosing & Administration Study |
| NCT03224585 | PHASE2 | TERMINATED | Treatment of Acute Pericarditis With Anakinra |
| NCT03980522 | PHASE2 | COMPLETED | A Pilot Study of KPL-914 in Recurrent Pericarditis |
| NCT04906720 | PHASE2 | COMPLETED | Post-Ablation Pericarditis Reduction Study |
| NCT05494788 | PHASE2 | COMPLETED | Impact of CardiolRxTM on Recurrent Pericarditis (MAvERIC-Pilot) |
| NCT06731595 | PHASE2 | COMPLETED | Post-Ablation Pericarditis Reduction Study (PAPERS) |
| NCT02083510 | EARLY_PHASE1 | COMPLETED | Apolipoprotein CIII Reduction Via Colchicine |
| NCT04687358 | Not specified | ACTIVE_NOT_RECRUITING | REgiStry Of the NAtural History of recurreNt periCarditis in pEdiatric and Adult Patients |
| NCT04774549 | Not specified | ACTIVE_NOT_RECRUITING | Inflammatory Cardiomyopathy Bern Registry |
| NCT05046002 | Not specified | RECRUITING | COVID-19 Vaccine-induced Inflammatory Heart Disease Prevalence Registry |
| NCT05925790 | Not specified | RECRUITING | Clinical Phenotypes in Pericarditis: IL-1RA Antibodies and suPAR Levels |
| NCT06293924 | Not specified | ENROLLING_BY_INVITATION | Pericardial Fluid Analysis in Recurrent Pericarditis |
| NCT06411340 | Not specified | NOT_YET_RECRUITING | Inflammation in Acute Cardiovascular Diseases - the CArdiovascular Inflammation Registry (CAIR) |
| NCT06517966 | Not specified | ACTIVE_NOT_RECRUITING | RUDRA Registry (Real-World Clinical Registry for Patients With Recurrent Pericarditis) |
| NCT06763549 | Not specified | ENROLLING_BY_INVITATION | COR-INSIGHT: Optimizing Cardiovascular and Cardiopulmonary Outcomes with AI-Driven Multiplexed Indications Using COR ECG Wearable |
| NCT07077304 | Not specified | NOT_YET_RECRUITING | EACVI Study on Multimodality Cardiovascular Imaging of Inflammatory Cardiovascular Diseases |
| NCT07468461 | Not specified | RECRUITING | CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome |
| NCT01063582 | Not specified | UNKNOWN | Noise, a Risk for Heart in Airplane Pilots |
| NCT01395082 | Not specified | COMPLETED | ACAM2000® Myopericarditis Registry |
| NCT02754713 | Not specified | UNKNOWN | Prognostic Biomarkers in Patients With Acute Pericarditis |
| NCT03231449 | Not specified | UNKNOWN | A Survey of Hospitalizations in Cardiology Units in Sub-Saharan Africa |
| NCT03253315 | Not specified | UNKNOWN | Management of Pericarditis in Children. |
| NCT04294771 | Not specified | UNKNOWN | JOint Use of Database to Identify Risk Factors of CARDio-vascular Toxicity Induced by Immune Checkpoint Inhibitors |
| NCT06071156 | Not specified | UNKNOWN | Therapy Management in Patients Treated With Anakinra Due to Recurrent Pericarditis |
| NCT06103123 | Not specified | UNKNOWN | MYocarditis and/or Pericarditis Following mRNA COVID-19 VACCination National Surveillance Study |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| COLCHICINE | 4 | 4 |
| ANAKINRA | 4 | 2 |
| RILONACEPT | 4 | 2 |
| ASPIRIN | 4 | 1 |
| CANNABIDIOL | 4 | 1 |
| FLUDEOXYGLUCOSE F 18 | 4 | 1 |
| GOFLIKICEPT | 3 | 2 |
| CHEMBL5220618 | 0 | 2 |
| CHEMBL5282669 | 0 | 1 |