Behçet disease
ORPHA:117DiseaseMultigenic/multifactorialAdolescent, Adult, Childhood
Ассоциированные гены15
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IL10 | interleukin 10 | Major susceptibility factor in | gene with protein product | 124092 |
| HLA-B | major histocompatibility complex, class I, B | Major susceptibility factor in | gene with protein product | 142830 |
| FAS | Fas cell surface death receptor | Major susceptibility factor in | gene with protein product | 134637 |
| UBAC2 | UBA domain containing 2 | Major susceptibility factor in | gene with protein product | — |
| IL23R | interleukin 23 receptor | Major susceptibility factor in | gene with protein product | 607562 |
| MEFV | MEFV innate immunity regulator, pyrin | Major susceptibility factor in | gene with protein product | 608107 |
| STAT4 | signal transducer and activator of transcription 4 | Major susceptibility factor in | gene with protein product | 600558 |
| C4A | complement C4A (Chido/Rodgers blood group) | Major susceptibility factor in | gene with protein product | 120810 |
| IL12A | interleukin 12A | Major susceptibility factor in | gene with protein product | 161560 |
| TLR4 | toll like receptor 4 | Major susceptibility factor in | gene with protein product | 603030 |
| CCR1 | C-C motif chemokine receptor 1 | Major susceptibility factor in | gene with protein product | 601159 |
| KLRC4 | killer cell lectin like receptor C4 | Major susceptibility factor in | gene with protein product | 602893 |
| IL12A-AS1 | IL12A antisense RNA 1 | Major susceptibility factor in | Non-coding RNA | — |
| ERAP1 | endoplasmic reticulum aminopeptidase 1 | Major susceptibility factor in | gene with protein product | 606832 |
| IFNGR1 | interferon gamma receptor 1 | Major susceptibility factor in | gene with protein product | 107470 |
Фенотипы (HPO)85
Очень частый (80–99%)14
HP:0000155Oral ulcer
HP:0000613Photophobia
HP:0001287Meningitis
HP:0001369Arthritis
HP:0001482Subcutaneous nodule
HP:0001945Fever
HP:0002017Nausea and vomiting
HP:0002076Migraine
HP:0002633Vasculitis
HP:0003326Myalgia
HP:0011107Recurrent aphthous stomatitis
HP:0012378Fatigue
HP:0100796Orchitis
HP:0200034Papule
Частый (30–79%)21
HP:0001061Acne
HP:0001269Hemiparesis
HP:0001288Gait disturbance
HP:0001289Confusion
HP:0002027Abdominal pain
HP:0002239Gastrointestinal hemorrhage
HP:0002315Headache
HP:0002638Superficial thrombophlebitis
HP:0002829Arthralgia
HP:0003249Genital ulcers
HP:0003565Elevated erythrocyte sedimentation rate
HP:0004936Venous thrombosis
HP:0007813Nongranulomatous uveitis
HP:0008066Abnormal blistering of the skin
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012121Panuveitis
HP:0012219Erythema nodosum
HP:0012649Increased inflammatory response
HP:0025532Positive pathergy test
HP:0100326Immunologic hypersensitivity
HP:0200039Pustule
Периодический (5–29%)48
HP:0002024Malabsorption
HP:0002039Anorexia
HP:0002102Pleuritis
HP:0002105Hemoptysis
HP:0002113Pulmonary infiltrates
HP:0002202Pleural effusion
HP:0002204Pulmonary embolism
HP:0002321Vertigo
HP:0002354Memory impairment
HP:0002376Developmental regression
HP:0002383Infectious encephalitis
HP:0002516Increased intracranial pressure
HP:0002637Cerebral ischemia
HP:0002716Lymphadenopathy
HP:0003401Paresthesia
HP:0004420Arterial thrombosis
HP:0006824Cranial nerve paralysis
HP:0007256Abnormal pyramidal sign
HP:0010885Avascular necrosis
HP:0012819Myocarditis
HP:0033430Non-infectious meningitis
HP:0000031Epididymitis
HP:0000083Renal insufficiency
HP:0000488Retinopathy
HP:0000518Cataract
HP:0000618Blindness
HP:0000708Atypical behavior
HP:0000737Irritability
HP:0001097Keratoconjunctivitis sicca
HP:0001250Seizure
HP:0001251Ataxia
HP:0001347Hyperreflexia
HP:0001637Abnormal myocardium morphology
HP:0001653Mitral regurgitation
HP:0001658Myocardial infarction
HP:0001659Aortic regurgitation
HP:0001701Pericarditis
HP:0001733Pancreatitis
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0001954Recurrent fever
HP:0100584Endocarditis
HP:0100614Myositis
HP:0100653Optic neuritis
HP:0100654Retrobulbar optic neuritis
HP:0100758Gangrene
HP:0100820Glomerulopathy
HP:4000041AA amyloidosis
Очень редкий (1–4%)2
HP:0000099Glomerulonephritis
HP:0002014Diarrhea
Эпидемиология18
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.66 | Spain | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.24 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.2 | United States | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.58 | Iran, Islamic Republic of | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.1 | France | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.8 | Italy | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.1 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.2 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.5 | Portugal | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Japan | Value and class |
| Point prevalence | >1 / 1000 | 225 | Turkey | Value and class |
| Point prevalence | 1-5 / 10 000 | 16.7 | Iran, Islamic Republic of | Value and class |
| Point prevalence | 1-5 / 10 000 | 15.2 | Israel | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.4 | Taiwan, Province of China | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.8 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Saudi Arabia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Annual incidence | 1-9 / 100 000 | 1.51 | Korea, Republic of | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)