Vogt-Koyanagi-Harada disease
ORPHA:3437DiseaseMultigenic/multifactorialAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | Major susceptibility factor in | gene with protein product | 142857 |
| FAS | Fas cell surface death receptor | Major susceptibility factor in | gene with protein product | 134637 |
| PTPN22 | protein tyrosine phosphatase non-receptor type 22 | Major susceptibility factor in | gene with protein product | 600716 |
Фенотипы (HPO)37
Очень частый (80–99%)10
HP:0000499Abnormal eyelash morphology
HP:0000534Abnormal eyebrow morphology
HP:0001045Vitiligo
HP:0001053Hypopigmented skin patches
HP:0002209Sparse scalp hair
HP:0002216Premature graying of hair
HP:0002290Poliosis
HP:0002315Headache
HP:0012229CSF pleocytosis
HP:0100543Cognitive impairment
Частый (30–79%)15
HP:0000360Tinnitus
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000541Retinal detachment
HP:0000554Uveitis
HP:0000622Blurred vision
HP:0001094Iridocyclitis
HP:0004322Short stature
HP:0007787Posterior subcapsular cataract
HP:0007906Ocular hypertension
HP:0020120Retinal nerve fiber edema
HP:0030953Conjunctival hyperemia
HP:0031179Nuchal rigidity
HP:0040030Chorioretinal hypopigmentation
Периодический (5–29%)12
HP:0000501Glaucoma
HP:0000613Photophobia
HP:0001596Alopecia
HP:0001945Fever
HP:0002018Nausea
HP:0002321Vertigo
HP:0002381Aphasia
HP:0009926Epiphora
HP:0011484Posterior synechiae of the anterior chamber
HP:0025341Corneal keratic precipitates
HP:0100809Scalp tenderness
HP:6000710Dalen Fuchs nodules
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | 1-9 / 1 000 000 | 0.38 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)