Systemic-onset juvenile idiopathic arthritis
ORPHA:85414DiseaseMultigenic/multifactorial, UnknownChildhood
Ассоциированные гены4
| 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 |
| MIF | macrophage migration inhibitory factor | Major susceptibility factor in | gene with protein product | 153620 |
| IL6 | interleukin 6 | Major susceptibility factor in | gene with protein product | 147620 |
| LACC1 | laccase domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 613409 |
Фенотипы (HPO)22
Очень частый (80–99%)9
HP:0000988Skin rash
HP:0001369Arthritis
HP:0001386Joint swelling
HP:0001945Fever
HP:0002829Arthralgia
HP:0002960Autoimmunity
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005681Juvenile rheumatoid arthritis
HP:0011227Elevated circulating C-reactive protein concentration
Частый (30–79%)1
HP:0002716Lymphadenopathy
Периодический (5–29%)12
HP:0000099Glomerulonephritis
HP:0000938Osteopenia
HP:0001510Growth delay
HP:0001701Pericarditis
HP:0001744Splenomegaly
HP:0002027Abdominal pain
HP:0002202Pleural effusion
HP:0002240Hepatomegaly
HP:0003281Increased circulating ferritin concentration
HP:0004890Elevated pulmonary artery pressure
HP:0012122Anterior uveitis
HP:0033430Non-infectious meningitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.1 | Worldwide | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.6 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)