Relapsing polychondritis
diseaseOn this page
Also known as chronic atrophic polychondritisrecurrent polychondritis
Summary
Relapsing polychondritis (MONDO:0019125) is a disease and 11 clinical trials. Top therapeutic interventions include tocilizumab, azathioprine, and upadacitinib. A subtype of chondromalacia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 53
- Clinical trials: 11
Clinical features
Epidemiology
Prevalence records
4 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.35 | Worldwide | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.35 | United States | Validated |
| Annual incidence | <1 / 1 000 000 | 0.071 | United Kingdom | Validated |
| Point prevalence | 1-9 / 1 000 000 | 0.52 | United Kingdom | Validated |
Signs & symptoms
Clinical features (HPO)
53 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000518 | Cataract | Very frequent (80-99%) |
| HP:0001369 | Arthritis | Very frequent (80-99%) |
| HP:0005310 | Large vessel vasculitis | Very frequent (80-99%) |
| HP:0100662 | Chondritis | Very frequent (80-99%) |
| HP:0200047 | Chondritis of pinna | Very frequent (80-99%) |
| HP:0000360 | Tinnitus | Frequent (30-79%) |
| HP:0001251 | Ataxia | Frequent (30-79%) |
| HP:0001376 | Limitation of joint mobility | Frequent (30-79%) |
| HP:0001609 | Hoarse voice | Frequent (30-79%) |
| HP:0001646 | Abnormal aortic valve morphology | Frequent (30-79%) |
| HP:0001701 | Pericarditis | Frequent (30-79%) |
| HP:0002017 | Nausea and vomiting | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0002321 | Vertigo | Frequent (30-79%) |
| HP:0002786 | Tracheobronchomalacia | Frequent (30-79%) |
| HP:0012735 | Cough | Frequent (30-79%) |
| HP:0030828 | Wheezing | Frequent (30-79%) |
| HP:0100750 | Atelectasis | Frequent (30-79%) |
| HP:0000083 | Renal insufficiency | Occasional (5-29%) |
| HP:0000093 | Proteinuria | Occasional (5-29%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (5-29%) |
| HP:0000491 | Keratitis | Occasional (5-29%) |
| HP:0000509 | Conjunctivitis | Occasional (5-29%) |
| HP:0000520 | Proptosis | Occasional (5-29%) |
| HP:0000554 | Uveitis | Occasional (5-29%) |
| HP:0000790 | Hematuria | Occasional (5-29%) |
| HP:0000979 | Purpura | Occasional (5-29%) |
| HP:0001545 | Anteriorly placed anus | Occasional (5-29%) |
| HP:0001596 | Alopecia | Occasional (5-29%) |
| HP:0001601 | Laryngomalacia | Occasional (5-29%) |
| HP:0001686 | Loss of voice | Occasional (5-29%) |
| HP:0002617 | Dilatation | Occasional (5-29%) |
| HP:0002793 | Abnormal pattern of respiration | Occasional (5-29%) |
| HP:0002829 | Arthralgia | Occasional (5-29%) |
| HP:0002923 | Rheumatoid factor positive | Occasional (5-29%) |
| HP:0003493 | Antinuclear antibody positivity | Occasional (5-29%) |
| HP:0004306 | Abnormality of the endocardium | Occasional (5-29%) |
| HP:0004418 | Thrombophlebitis | Occasional (5-29%) |
| HP:0004422 | Biparietal narrowing | Occasional (5-29%) |
| HP:0004936 | Venous thrombosis | Occasional (5-29%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (5-29%) |
| HP:0010783 | Erythema | Occasional (5-29%) |
| HP:0011107 | Recurrent aphthous stomatitis | Occasional (5-29%) |
| HP:0012115 | Hepatitis | Occasional (5-29%) |
| HP:0012733 | Macule | Occasional (5-29%) |
| HP:0012819 | Myocarditis | Occasional (5-29%) |
| HP:0031481 | Abnormal mitral valve physiology | Occasional (5-29%) |
| HP:0033380 | Nasal chondritis | Occasional (5-29%) |
| HP:0100532 | Scleritis | Occasional (5-29%) |
| HP:0100533 | Inflammatory abnormality of the eye | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | relapsing polychondritis |
| Mondo ID | MONDO:0019125 |
| EFO | EFO:1001148 |
| MeSH | D011081 |
| Orphanet | 728 |
| DOID | DOID:2556 |
| ICD-10-CM | M94.1 |
| ICD-11 | 1412888287 |
| NCIT | C157268 |
| SNOMED CT | 72275000 |
| UMLS | C0032453 |
| MedGen | 45995 |
| GARD | 0007417 |
| MedDRA | 10038304 |
| NORD | 1655 |
| Is cancer (heuristic) | no |
Also known as: chronic atrophic polychondritis · recurrent polychondritis
Data availability: 6 cell lines.
Disease family
This is a subtype of chondromalacia. 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 › musculoskeletal system disorder › skeletal system disorder › arthropathy › articular cartilage disorder › chondromalacia › relapsing polychondritis
Related subtypes (1): chondromalacia patellae
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
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
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aldesleukin, Tocilizumab.
Clinical trials & evidence
Clinical trials
Clinical trials: 11.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE2 | 4 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06873100 | PHASE1/PHASE2 | RECRUITING | Efficacy, Safety and Immunological Evaluation of Upadacitinib for Relapsing Polychondritis |
| NCT06941376 | PHASE2 | RECRUITING | An Open-Label Study of Effectiveness of Immunomodulatory Medications for Patients With Relapsing Polychondritis |
| NCT01104480 | PHASE2 | WITHDRAWN | Tocilizumab for Relapsing Polychondritis |
| NCT04077736 | PHASE2 | COMPLETED | Low-dose Recombinant Human IL-2 for the Treatment of Relapsing Polychondritis |
| NCT05168475 | PHASE2 | TERMINATED | Biologics in Refractory Vasculitis: A Trial of Biologic Therapy for Refractory Primary Non-ANCA Associated Vasculitis |
| NCT01272856 | PHASE1 | COMPLETED | Study on the Safety of Abatacept in Relapsing Polychondritis |
| NCT02257866 | Not specified | RECRUITING | Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis |
| NCT04919538 | Not specified | RECRUITING | Longitudinal Study for Relapsing Polychondritis |
| NCT01041248 | Not specified | COMPLETED | Single Patient Study to Treat Relapsing Polychondritis With Tocilizumab |
| NCT03840928 | Not specified | UNKNOWN | PatientSpot Formerly Known as ArthritisPower |
| NCT06019221 | Not specified | UNKNOWN | Pediatric Relapsing Polychondritis : Diagnosis and Management in a French Retrospective Study |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| TOCILIZUMAB | 4 | 4 |
| AZATHIOPRINE | 4 | 1 |
| UPADACITINIB | 4 | 1 |
| CHEMBL4783966 | 0 | 1 |
Related Atlas pages
- Drugs: Tocilizumab, Azathioprine, Upadacitinib