Giant cell arteritis
ORPHA:397DiseaseMultigenic/multifactorialAdult
Ассоциированные гены4
| 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 |
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | Major susceptibility factor in | gene with protein product | 142857 |
| HLA-B | major histocompatibility complex, class I, B | Major susceptibility factor in | gene with protein product | 142830 |
| P4HA2 | prolyl 4-hydroxylase subunit alpha 2 | Major susceptibility factor in | gene with protein product | 600608 |
Фенотипы (HPO)69
Очень частый (80–99%)10
HP:0001387Joint stiffness
HP:0001824Weight loss
HP:0001945Fever
HP:0002039Anorexia
HP:0002315Headache
HP:0002633Vasculitis
HP:0002637Cerebral ischemia
HP:0005216Impaired mastication
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012378Fatigue
Частый (30–79%)15
HP:0000505Visual impairment
HP:0000597Ophthalmoparesis
HP:0000716Depression
HP:0001369Arthritis
HP:0001596Alopecia
HP:0001903Anemia
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005413Increased alpha-globulin
HP:0005764Polyarticular arthritis
HP:0011899Hyperfibrinogenemia
HP:0030164Jaw claudication
HP:0030783Increased circulating interleukin 6 concentration
HP:0033123Elevated circulating osteopontin level
HP:0033834Malaise
HP:6000502Elevated circulating calprotectin concentration
Периодический (5–29%)44
HP:0000083Renal insufficiency
HP:0000206Glossitis
HP:0000365Hearing impairment
HP:0000405Conductive hearing impairment
HP:0000421Epistaxis
HP:0000508Ptosis
HP:0000572Visual loss
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000651Diplopia
HP:0000790Hematuria
HP:0000873Diabetes insipidus
HP:0000975Hyperhidrosis
HP:0001123Visual field defect
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001287Meningitis
HP:0001324Muscle weakness
HP:0001399Hepatic failure
HP:0001645Sudden cardiac death
HP:0001701Pericarditis
HP:0001872Abnormality of thrombocytes
HP:0002027Abdominal pain
HP:0002103Abnormality of the pleura
HP:0002321Vertigo
HP:0002367Visual hallucinations
HP:0002647Aortic dissection
HP:0002829Arthralgia
HP:0003326Myalgia
HP:0003401Paresthesia
HP:0004420Arterial thrombosis
HP:0005112Abdominal aortic aneurysm
HP:0005244Gastrointestinal infarctions
HP:0009830Peripheral neuropathy
HP:0011658Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
HP:0011675Arrhythmia
HP:0012735Cough
HP:0031246Nonproductive cough
HP:0100576Amaurosis fugax
HP:0100721Mediastinal lymphadenopathy
HP:0100758Gangrene
HP:0100776Recurrent pharyngitis
HP:0100809Scalp tenderness
HP:0200042Skin ulcer
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8.9 | Germany | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.35 | United States | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.8 | Italy | Value and class |
| Annual incidence | 1-9 / 100 000 | 7.7 | Sweden | Value and class |
| Annual incidence | 1-5 / 10 000 | 11.2 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Point prevalence | 1-5 / 10 000 | 30.4 | Italy | Value and class |
| Annual incidence | 1-5 / 10 000 | 16.8 | Norway | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)