{"orpha":3437,"name":"Vogt-Koyanagi-Harada disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Uveomenigitic syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3437/","orphanet_url":"https://www.orpha.net/en/disease/detail/3437","names":{"fr":{"name":"Maladie de Vogt-Koyanagi-Harada","synonyms":["Syndrome d'uvéoméningite"],"definition":"Panuvéite granulomateuse bilatérale rare caractérisée par une phase aiguë de décollement rétinien séreux associée à des atteintes neurologiques (méningite) et auditives lesquelles, en cas de traitement tardif (>3 à 4 semaines) ou inadéquat, évoluent vers une phase chronique avec une uvéite antérieure chronique et des lésions rétiniennes atrophiques (nodules de Dalen-Fuchs et fond de l'oeil en coucher de soleil (dit « sunset glow ») associées à des atteintes dermatologiques. La maladie se caractérise par une augmentation de l'activité inflammatoire choroïdienne."},"de":{"name":"Vogt-Koyanagi-Harada-Krankheit","synonyms":["Uveo-meningitisches Syndrom"],"definition":"Eine seltene bilaterale granulomatöse Panuveitis, die durch eine akute Phase mit serösen Netzhautablösungen in Verbindung mit neurologischen (Meningitis) und auditiven Veränderungen gekennzeichnet ist und bei verzögerter (>3-4 Wochen) oder unzureichender Behandlung in eine chronische Phase mit chronischer Uveitis anterior und atrophischen Netzhautläsionen (Dalen-Fuchs-Knötchen und Sunset-Glow-Fundus) in Verbindung mit dermatologischen Veränderungen übergeht. Die Krankheit ist durch eine erhöhte Entzündungsaktivität der Aderhaut gekennzeichnet."},"es":{"name":"Enfermedad de Vogt-Koyanagi-Harada","synonyms":["Síndrome de Uveomeningitis"],"definition":"Es una panuveítis granulomatosa bilateral poco frecuente, caracterizada por una fase aguda con desprendimiento de retina seroso asociados a alteraciones neurológicas (meningitis) y auditivas. Si el tratamiento se retrasa (más de 3-4 semanas) o es insuficiente, evoluciona a una fase crónica con uveítis anterior crónica y lesiones atróficas en la retina (nódulos de Dalen-Fuchs y 'fondo de ojo en fase ocaso') asociadas a alteraciones dermatológicas. La enfermedad se caracteriza por un aumento de la actividad inflamatoria en la coroides."},"it":{"name":"Malattia di Vogt-Koyanagi-Harada","synonyms":["Sindrome uveomeningitica"]},"nl":{"name":"Ziekte van Vogt-Koyanagi-Harada","synonyms":["Uveomeningitis-syndroom"],"definition":"Een zeldzame bilaterale granulomateuze panuveïtis, gekenmerkt door een acute fase met sereuze netvliesloslatingen geassocieerd met neurologische (meningitis) en auditieve veranderingen die, in geval van vertraagde (langer dan 3-4 weken) of onvoldoende behandeling, evolueert naar een chronische fase met chronische anterieure uveïtis en retinale atrofische laesies (Dalen-Fuchs-noduli en 'sunset glow'-fundus) geassocieerd met dermatologische veranderingen. De ziekte wordt gekenmerkt door verhoogde inflammatoire activiteit in de choroidea (vaatvlies)."},"pt":{"name":"Doença de Vogt-Koyanagi-Harada","definition":"A doença Vogt-Koyanagi-Harada é uma panuveíte granulomatosa bilateral, crónica e difusa caracterizada pelo descolamento seroso da retina e frequentemente associado a alterações neurológicas (meningite), auditivas e dermatológicas."},"pl":{"name":"Choroba Vogta, Koyanagi i Harada","synonyms":["Zespół błony naczynioweji opon mózgowych"]},"cs":{"name":"Vogtova-Koyanagiho-Haradova choroba","synonyms":["Uveomeningeální syndrom","Vogt-Koyanagi-Haradova choroba"]},"uk":{"name":"Хвороба Фогта-Коянагі-Харада","synonyms":["Увеоменігітичний синдром"],"definition":"Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations."},"zh":{"name":"Vogt-小柳-原田综合征","synonyms":["葡萄膜大脑炎综合症"]},"tr":{"name":"Vogt-Koyanagi-Harada hastalığı","synonyms":["Üveomenigitik sendrom"]}},"xrefs":[{"source":"ICD-10","code":"H20.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"H30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A96.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1883500946"},{"source":"MONDO","code":"0018092","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0042170","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7862","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082001","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280898,"name":"Panuveitis","classifications":[189]},{"orpha":716195,"name":"Rare inflammatory choroidal disorder","classifications":[189]},{"orpha":182064,"name":"Rare neuroinflammatory or neuroimmunological disease","classifications":[181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]}],"children":[],"genes":[{"symbol":"FAS","name":"Fas cell surface death receptor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26136352[PMID]","hgnc":"11920","ensembl":"ENSG00000026103","omim":"134637","loci":["10q23.31"]},{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25382027[PMID]","hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]},{"symbol":"PTPN22","name":"protein tyrosine phosphatase non-receptor type 22","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24816862[PMID]","hgnc":"9652","ensembl":"ENSG00000134242","omim":"600716","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"United States","status":"Validated","source":"27008848[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-26","source":"27241814[PMID]_37400085[PMID]_32110561[PMID]","terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002290","label":"Poliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040030","label":"Chorioretinal hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001094","label":"Iridocyclitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031179","label":"Nuchal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020120","label":"Retinal nerve fiber edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025341","label":"Corneal keratic precipitates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000710","label":"Dalen Fuchs nodules","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011484","label":"Posterior synechiae of the anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100809","label":"Scalp tenderness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}