Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
ORPHA:85408DiseaseMultigenic/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 |
Фенотипы (HPO)31
Частый (30–79%)11
HP:0001369Arthritis
HP:0001386Joint swelling
HP:0001387Joint stiffness
HP:0001785Ankle swelling
HP:0002829Arthralgia
HP:0003019Abnormality of the wrist
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005086Knee osteoarthritis
HP:0005186Synovial hypertrophy
HP:0100686Enthesitis
HP:0100769Synovitis
Периодический (5–29%)18
HP:0000554Uveitis
HP:0001155Abnormality of the hand
HP:0001371Flexion contracture
HP:0001384Abnormality of the hip joint
HP:0001530Mild postnatal growth retardation
HP:0001824Weight loss
HP:0001832Abnormal metatarsal morphology
HP:0001903Anemia
HP:0002716Lymphadenopathy
HP:0003043Abnormality of the shoulder
HP:0003319Abnormality of the cervical spine
HP:0003326Myalgia
HP:0003493Antinuclear antibody positivity
HP:0008843Hip osteoarthritis
HP:0010754Abnormality of the temporomandibular joint
HP:0011134Low-grade fever
HP:0011911Abnormality of metacarpophalangeal joint
HP:0040313Oligoarthritis
Очень редкий (1–4%)2
HP:0001094Iridocyclitis
HP:0001433Hepatosplenomegaly
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)