Granulomatosis with polyangiitis
ORPHA:900DiseaseNot applicableAdolescent, Adult, Childhood, Elderly
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HLA-DPA1 | major histocompatibility complex, class II, DP alpha 1 | Major susceptibility factor in | gene with protein product | 142880 |
| HLA-DPB1 | major histocompatibility complex, class II, DP beta 1 | Major susceptibility factor in | gene with protein product | 142858 |
| CTLA4 | cytotoxic T-lymphocyte associated protein 4 | Major susceptibility factor in | gene with protein product | 123890 |
| PTPN22 | protein tyrosine phosphatase non-receptor type 22 | Major susceptibility factor in | gene with protein product | 600716 |
| PRTN3 | proteinase 3 | Major susceptibility factor in | gene with protein product | 177020 |
Фенотипы (HPO)80
Очень частый (80–99%)17
HP:0000163Abnormal oral cavity morphology
HP:0000246Sinusitis
HP:0000366Abnormality of the nose
HP:0000388Otitis media
HP:0000421Epistaxis
HP:0000790Hematuria
HP:0001824Weight loss
HP:0001945Fever
HP:0002113Pulmonary infiltrates
HP:0002205Recurrent respiratory infections
HP:0002633Vasculitis
HP:0002637Cerebral ischemia
HP:0002829Arthralgia
HP:0002955Granulomatosis
HP:0002960Autoimmunity
HP:0012378Fatigue
HP:0100820Glomerulopathy
Частый (30–79%)28
HP:0000093Proteinuria
HP:0000099Glomerulonephritis
HP:0000579Nasolacrimal duct obstruction
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0000988Skin rash
HP:0001369Arthritis
HP:0002017Nausea and vomiting
HP:0002027Abdominal pain
HP:0002093Respiratory insufficiency
HP:0002105Hemoptysis
HP:0002206Pulmonary fibrosis
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005764Polyarticular arthritis
HP:0006510Chronic pulmonary obstruction
HP:0006535Recurrent intrapulmonary hemorrhage
HP:0009830Peripheral neuropathy
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012649Increased inflammatory response
HP:0012735Cough
HP:0032230Cytoplasmic antineutrophil antibody positivity
HP:0033557Anti-proteinase 3 antibody positivity
HP:0033559Anti-myeloperoxidase antibody positivity
HP:0034104Anti-neutrophil elastase antibody positivity
HP:0100532Scleritis
HP:0100533Inflammatory abnormality of the eye
HP:0100539Periorbital edema
HP:0100749Chest pain
HP:0200034Papule
Периодический (5–29%)35
HP:0000024Prostatitis
HP:0000071Ureteral stenosis
HP:0000083Renal insufficiency
HP:0000126Hydronephrosis
HP:0000389Chronic otitis media
HP:0000407Sensorineural hearing impairment
HP:0000488Retinopathy
HP:0000491Keratitis
HP:0000505Visual impairment
HP:0000520Proptosis
HP:0000763Sensory neuropathy
HP:0000822Hypertension
HP:0000873Diabetes insipidus
HP:0000979Purpura
HP:0001250Seizure
HP:0001287Meningitis
HP:0001607Subglottic stenosis
HP:0001681Angina pectoris
HP:0001701Pericarditis
HP:0001733Pancreatitis
HP:0002091Restrictive ventilatory defect
HP:0002102Pleuritis
HP:0002202Pleural effusion
HP:0002239Gastrointestinal hemorrhage
HP:0002301Hemiplegia
HP:0002315Headache
HP:0003326Myalgia
HP:0004936Venous thrombosis
HP:0005214Intestinal obstruction
HP:0006824Cranial nerve paralysis
HP:0011675Arrhythmia
HP:0025420Diffuse alveolar hemorrhage
HP:0033608Pulmonary nodule
HP:0100758Gangrene
HP:0200042Skin ulcer
Эпидемиология25
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.85 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 9 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 16 | Sweden | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.86 | Germany | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.37 | France | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.19 | Sweden | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.49 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.51 | Norway | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.5 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.35 | New Zealand | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.93 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.6 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.94 | China | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.21 | Lithuania | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.66 | Greece | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.24 | Italy | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.46 | Canada | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.21 | Japan | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.037 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.23 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.43 | Italy | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Denmark | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.3 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)