Oligoarticular juvenile idiopathic arthritis

ORPHA:85410DiseaseMultigenic/multifactorialChildhood

Ассоциированные гены7

Ген	Полное название	Тип связи	Тип гена	OMIM
PTPN22	protein tyrosine phosphatase non-receptor type 22	Major susceptibility factor in	gene with protein product	600716
STAT4	signal transducer and activator of transcription 4	Major susceptibility factor in	gene with protein product	600558
IL2RA	interleukin 2 receptor subunit alpha	Major susceptibility factor in	gene with protein product	147730
CD247	CD247 molecule	Major susceptibility factor in	gene with protein product	186780
PTPN2	protein tyrosine phosphatase non-receptor type 2	Major susceptibility factor in	gene with protein product	176887
ANKRD55	ankyrin repeat domain 55	Major susceptibility factor in	gene with protein product	615189
IL2RB	interleukin 2 receptor subunit beta	Major susceptibility factor in	gene with protein product	146710

Очень частый (80–99%)3

HP:0001369Arthritis

HP:0003493Antinuclear antibody positivity

HP:0040313Oligoarthritis

Частый (30–79%)9

HP:0011117Abnormal circulating interleukin concentration

HP:0000554Uveitis

HP:0001382Joint hypermobility

HP:0001508Failure to thrive

HP:0002960Autoimmunity

HP:0003028Abnormality of the ankles

HP:0003565Elevated erythrocyte sedimentation rate

HP:0005086Knee osteoarthritis

HP:0030356Increased serum interferon-gamma level

Периодический (5–29%)6

HP:0000572Visual loss

HP:0000585Band keratopathy

HP:0001370Rheumatoid arthritis

HP:0007663Reduced visual acuity

HP:0007833Anterior chamber synechiae

HP:0008850Severe postnatal growth retardation

Очень редкий (1–4%)2

HP:0000501Glaucoma

HP:0000518Cataract

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-5 / 10 000	20.5	Europe	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)