Takayasu arteritis
ORPHA:3287DiseaseNot applicableAdolescent, Adult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HLA-B | major histocompatibility complex, class I, B | Major susceptibility factor in | gene with protein product | 142830 |
| IL12B | interleukin 12B | Major susceptibility factor in | gene with protein product | 161561 |
| MLX | MAX dimerization protein MLX | Major susceptibility factor in | gene with protein product | 602976 |
Фенотипы (HPO)54
Очень частый (80–99%)9
HP:0001654Abnormal heart valve morphology
HP:0001824Weight loss
HP:0001945Fever
HP:0002617Dilatation
HP:0002633Vasculitis
HP:0012089Arteritis
HP:0012378Fatigue
HP:0100545Arterial stenosis
HP:0100735Hypertensive crisis
Частый (30–79%)24
HP:0000822Hypertension
HP:0001250Seizure
HP:0001324Muscle weakness
HP:0001369Arthritis
HP:0001646Abnormal aortic valve morphology
HP:0001658Myocardial infarction
HP:0001903Anemia
HP:0001920Renal artery stenosis
HP:0002039Anorexia
HP:0002076Migraine
HP:0002092Pulmonary arterial hypertension
HP:0002315Headache
HP:0003326Myalgia
HP:0003565Elevated erythrocyte sedimentation rate
HP:0004417Intermittent claudication
HP:0004970Ascending tubular aorta aneurysm
HP:0012649Increased inflammatory response
HP:0020141Blood pressure substantially higher in legs than arms
HP:0032554Absent pulse
HP:0100749Chest pain
HP:0100758Gangrene
HP:0200042Skin ulcer
HP:6000944Carotidynia
HP:6000945Asymmetric blood pressure between arms
Периодический (5–29%)21
HP:0000488Retinopathy
HP:0000505Visual impairment
HP:0001297Stroke
HP:0001635Congestive heart failure
HP:0001644Dilated cardiomyopathy
HP:0001659Aortic regurgitation
HP:0002094Dyspnea
HP:0002105Hemoptysis
HP:0002167Abnormality of speech or vocalization
HP:0002321Vertigo
HP:0002326Transient ischemic attack
HP:0002637Cerebral ischemia
HP:0002829Arthralgia
HP:0004306Abnormality of the endocardium
HP:0004372Reduced consciousness/confusion
HP:0005244Gastrointestinal infarctions
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012219Erythema nodosum
HP:0030166Night sweats
HP:0033834Malaise
HP:0100576Amaurosis fugax
Эпидемиология21
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.084 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.34 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.06 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | Japan | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.98 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.47 | United Kingdom | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.04 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Annual incidence | <1 / 1 000 000 | 0.07 | Germany | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.78 | Kuwait | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.15 | Japan | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.13 | Lithuania | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.22 | Kuwait | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.26 | United States | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.15 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.56 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.82 | Korea, Republic of | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.24 | Korea, Republic of | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.46 | Poland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.092 | Poland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)