Vogt-Koyanagi-Harada disease
Synonyms: Uveomenigitic syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare bilateral granulomatous panuveitis characterized by an acute phase with serous retinal detachments associated with neurological (meningitis) and auditory alterations which, in case of delayed (>3-4 weeks) or insufficient treatment, evolves into a chronic phase with chronic anterior uveitis and retinal atrophic lesions (Dalen-Fuchs nodules and sunset glow fundus) associated with dermatological alterations. The disease is marked by increased choroidal inflammatory activity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vogt-Koyanagi-Harada disease | Uveomenigitic syndrome |
| fr | Maladie de Vogt-Koyanagi-Harada | Syndrome d'uvéoméningite |
| de | Vogt-Koyanagi-Harada-Krankheit | Uveo-meningitisches Syndrom |
| es | Enfermedad de Vogt-Koyanagi-Harada | Síndrome de Uveomeningitis |
| it | Malattia di Vogt-Koyanagi-Harada | Sindrome uveomeningitica |
| nl | Ziekte van Vogt-Koyanagi-Harada | Uveomeningitis-syndroom |
| pt | Doença de Vogt-Koyanagi-Harada | |
| pl | Choroba Vogta, Koyanagi i Harada | Zespół błony naczynioweji opon mózgowych |
| cs | Vogtova-Koyanagiho-Haradova choroba | Uveomeningeální syndrom · Vogt-Koyanagi-Haradova choroba |
| uk | Хвороба Фогта-Коянагі-Харада | Увеоменігітичний синдром |
| zh | Vogt-小柳-原田综合征 | 葡萄膜大脑炎综合症 |
| tr | Vogt-Koyanagi-Harada hastalığı | Üveomenigitik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H20.8 | NTBT | attributed | validated |
| ICD-10 | H30.8 | NTBT | attributed | validated |
| ICD-11 | 9A96.1 | NTBT | index | validated |
| MONDO | 0018092 | E | validated | |
| MeSH | D014607 | E | validated | |
| UMLS | C0042170 | E | validated | |
| GARD | 7862 | E | validated | |
| MedDRA | 10082001 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:280898Panuveitis
rare ophthalmic disorders - ORPHA:716195Rare inflammatory choroidal disorder
rare ophthalmic disorders - ORPHA:182064Rare neuroinflammatory or neuroimmunological disease
rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAS | Major susceptibility factor in | Assessed | HGNC:11920 | ENSG00000026103 | 134637 | 10q23.31 | Fas cell surface death receptor | 26136352[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 25382027[PMID] |
| PTPN22 | Major susceptibility factor in | Assessed | HGNC:9652 | ENSG00000134242 | 600716 | 1p13.2 | protein tyrosine phosphatase non-receptor type 22 | 24816862[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.38 / 100 000 | United States | Value and class | Validated | 27008848[PMID]_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.
HPO phenotypes
37 annotations · validated 2024-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0012229 | CSF pleocytosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0002315 | Headache | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002290 | Poliosis | |
| HP:0002216 | Premature graying of hair | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001045 | Vitiligo | |
| Frequent (79-30%) | ||
| HP:0000622 | Blurred vision | |
| HP:0000518 | Cataract | |
| HP:0040030 | Chorioretinal hypopigmentation | |
| HP:0030953 | Conjunctival hyperemia | |
| HP:0001094 | Iridocyclitis | |
| HP:0031179 | Nuchal rigidity | |
| HP:0007906 | Ocular hypertension | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0000541 | Retinal detachment | |
| HP:0020120 | Retinal nerve fiber edema | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0000360 | Tinnitus | |
| HP:0000554 | Uveitis | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0002381 | Aphasia | |
| HP:0025341 | Corneal keratic precipitates | |
| HP:6000710 | Dalen Fuchs nodules | |
| HP:0009926 | Epiphora | |
| HP:0001945 | Fever | |
| HP:0000501 | Glaucoma | |
| HP:0002018 | Nausea | |
| HP:0000613 | Photophobia | |
| HP:0011484 | Posterior synechiae of the anterior chamber | |
| HP:0100809 | Scalp tenderness | |
| HP:0002321 | Vertigo | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 27241814[PMID]_37400085[PMID]_32110561[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3437
- This record as JSON: /data/d/3437.json