Antisynthetase syndrome
ORPHA:81DiseaseNot applicableAdult, Elderly
Фенотипы (HPO)44
Очень частый (80–99%)9
HP:0001324Muscle weakness
HP:0002093Respiratory insufficiency
HP:0002206Pulmonary fibrosis
HP:0002960Autoimmunity
HP:0003326Myalgia
HP:0006530Abnormal pulmonary interstitial morphology
HP:0012735Cough
HP:0100614Myositis
HP:0100749Chest pain
Частый (30–79%)22
HP:0000217Xerostomia
HP:0000969Edema
HP:0001097Keratoconjunctivitis sicca
HP:0001252Hypotonia
HP:0001369Arthritis
HP:0001945Fever
HP:0002094Dyspnea
HP:0002829Arthralgia
HP:0003236Elevated circulating creatine kinase concentration
HP:0003457EMG abnormality
HP:0030880Raynaud phenomenon
HP:0034143Anti-threonyl-tRNA synthetase antibody positivity
HP:0034145Anti-alanyl-tRNA synthetase antibody positivity
HP:0034146Anti-glycyl tRNA-synthetase antibody positivity
HP:0034147Anti-aminoacyl-tRNA synthetase antibody positivity
HP:0034148Anti-isoleucyl tRNA-synthetase antibody positivity
HP:0034149Anti-phenylalanyl tRNA synthetase antibody positivity
HP:0034150Anti-tyrosyl-tRNA synthetase antibody positivity
HP:0034151Anti-asparaginyl-tRNA synthetase antibody positivity
HP:0034152Anti-histidyl tRNA synthetase antibody positivity
HP:0034153Anti-cytosolic-5-nucleotidase-1A antibody positivity
HP:0100679Lack of skin elasticity
Периодический (5–29%)13
HP:0000988Skin rash
HP:0000989Pruritus
HP:0001373Joint dislocation
HP:0001608Abnormality of the voice
HP:0001659Aortic regurgitation
HP:0002015Dysphagia
HP:0002092Pulmonary arterial hypertension
HP:0002205Recurrent respiratory infections
HP:0002664Neoplasm
HP:0012819Myocarditis
HP:0100585Telangiectasia of the skin
HP:6001013Mechanic's hands
HP:6001014Hiker's feet
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)