Cogan syndrome
disease diseaseOn this page
Summary
Cogan syndrome (MONDO:0015453) is a disease and 1 clinical trial. Top therapeutic interventions include rituximab. A subtype of autoimmune disease of ear, nose and throat — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 20
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 300 | Worldwide | Validated | |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
20 HPO clinical features (Orphanet curated; top 20 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000360 | Tinnitus | Very frequent (80-99%) |
| HP:0000491 | Keratitis | Very frequent (80-99%) |
| HP:0000613 | Photophobia | Very frequent (80-99%) |
| HP:0001751 | Abnormal vestibular function | Very frequent (80-99%) |
| HP:0002321 | Vertigo | Very frequent (80-99%) |
| HP:0007663 | Reduced visual acuity | Very frequent (80-99%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (30-79%) |
| HP:0001894 | Thrombocytosis | Frequent (30-79%) |
| HP:0001903 | Anemia | Frequent (30-79%) |
| HP:0001974 | Leukocytosis | Frequent (30-79%) |
| HP:0003565 | Elevated erythrocyte sedimentation rate | Frequent (30-79%) |
| HP:0100533 | Inflammatory abnormality of the eye | Frequent (30-79%) |
| HP:0000509 | Conjunctivitis | Occasional (5-29%) |
| HP:0000554 | Uveitis | Occasional (5-29%) |
| HP:0000618 | Blindness | Occasional (5-29%) |
| HP:0001659 | Aortic regurgitation | Occasional (5-29%) |
| HP:0002633 | Vasculitis | Occasional (5-29%) |
| HP:0005310 | Large vessel vasculitis | Occasional (5-29%) |
| HP:0100532 | Scleritis | Occasional (5-29%) |
| HP:0100534 | Episcleritis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Cogan syndrome |
| Mondo ID | MONDO:0015453 |
| MeSH | D055952 |
| Orphanet | 1467 |
| DOID | DOID:0060216 |
| ICD-11 | 2098089327 |
| SNOMED CT | 405810005 |
| UMLS | C0271270 |
| MedGen | 82871 |
| GARD | 0001421 |
| MedDRA | 10056667 |
| Is cancer (heuristic) | no |
Also known as: Cogan syndrome
Disease family
This is a subtype of autoimmune disease of ear, nose and throat. 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 › immune system disorder › autoimmune disease › autoimmune disease of ear, nose and throat › Cogan syndrome
Related subtypes (6): IgG4-related submandibular gland disease, eosinophilic angiocentric fibrosis, IgG4-related dacryoadenitis and sialadenitis, autoimmune inner ear disease, autoimmune uveitis, autoimmune retinopathy
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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05168475 | PHASE2 | TERMINATED | Biologics in Refractory Vasculitis: A Trial of Biologic Therapy for Refractory Primary Non-ANCA Associated Vasculitis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| RITUXIMAB | 4 | 1 |
Related Atlas pages
- Drugs: Rituximab