ORPHA:1467
Cogan syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cogan syndrome | |
| fr | Syndrome de Cogan | |
| de | Cogan-Syndrom | |
| es | Síndrome de Cogan | |
| it | Sindrome di Cogan | |
| nl | Syndroom van Cogan | |
| pt | Síndrome Cogan | |
| pl | Zespół Cogana | |
| cs | Coganův syndrom | |
| uk | Синдром Когана | |
| zh | Cogan综合征 | |
| tr | Cogan sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H16.3 | NTBT | index | validated |
| ICD-11 | 4A44.Y | NTBT | index | validated |
| MONDO | 0015453 | E | validated | |
| MeSH | D055952 | E | validated | |
| UMLS | C0271270 | E | validated | |
| GARD | 1421 | E | validated | |
| MedDRA | 10056667 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:156140Predominantly large-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:519290Rare inflammatory/autoimmune corneal disorder
rare ophthalmic disorders - ORPHA:98036Rare otorhinolaryngologic disease
rare otorhinolaryngological diseases - ORPHA:280369Rare pediatric vasculitis
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 18037121[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2016-07-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001751 | Abnormal vestibular function | |
| HP:0000491 | Keratitis | Diagnostic criterion |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000360 | Tinnitus | Diagnostic criterion |
| HP:0002321 | Vertigo | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001894 | Thrombocytosis | |
| Occasional (29-5%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0000618 | Blindness | |
| HP:0000509 | Conjunctivitis | |
| HP:0100534 | Episcleritis | |
| HP:0005310 | Large vessel vasculitis | |
| HP:0100532 | Scleritis | |
| HP:0000554 | Uveitis | |
| HP:0002633 | Vasculitis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25854487[PMID]_3486332[PMID]_6969345[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1467
- This record as JSON: /data/d/1467.json