Mixed connective tissue disease
ORPHA:809DiseaseMultigenic/multifactorialAdolescent, Adult, Childhood
Фенотипы (HPO)68
Очень частый (80–99%)12
HP:0000988Skin rash
HP:0001369Arthritis
HP:0002020Gastroesophageal reflux
HP:0002094Dyspnea
HP:0002206Pulmonary fibrosis
HP:0002960Autoimmunity
HP:0003326Myalgia
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005263Gastritis
HP:0012378Fatigue
HP:0100324Scleroderma
HP:0100749Chest pain
Частый (30–79%)19
HP:0001945Fever
HP:0002102Pleuritis
HP:0002829Arthralgia
HP:0002923Rheumatoid factor positive
HP:0007514Edema of the dorsum of hands
HP:0010702Increased circulating antibody level
HP:0011838Sclerodactyly
HP:0020151Anti-dsDNA antibody positivity
HP:0030880Raynaud phenomenon
HP:0033028Anti-U1 ribonucleoprotein antibody positivity
HP:0034076Anti-ribosome Po antibody positivity
HP:0034092Anti-cyclic citrullinated peptide antibody positivity
HP:0034093Anti-Ro52/TRIM21 antibody positivity
HP:0100614Myositis
HP:0100661Trigeminal neuralgia
HP:0000217Xerostomia
HP:0000709Psychosis
HP:0001097Keratoconjunctivitis sicca
HP:0001386Joint swelling
Периодический (5–29%)37
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0000155Oral ulcer
HP:0000365Hearing impairment
HP:0000716Depression
HP:0000979Purpura
HP:0001009Telangiectasia
HP:0001250Seizure
HP:0001387Joint stiffness
HP:0001596Alopecia
HP:0001698Pericardial effusion
HP:0001701Pericarditis
HP:0001744Splenomegaly
HP:0001873Thrombocytopenia
HP:0001878Hemolytic anemia
HP:0001882Leukopenia
HP:0002092Pulmonary arterial hypertension
HP:0002239Gastrointestinal hemorrhage
HP:0002315Headache
HP:0002716Lymphadenopathy
HP:0002797Osteolysis
HP:0003010Prolonged bleeding time
HP:0003075Hypoproteinemia
HP:0003115Abnormal EKG
HP:0006530Abnormal pulmonary interstitial morphology
HP:0009830Peripheral neuropathy
HP:0010885Avascular necrosis
HP:0012050Anasarca
HP:0012219Erythema nodosum
HP:0012578Membranous nephropathy
HP:0012819Myocarditis
HP:0025300Malar rash
HP:0030878Abnormality on pulmonary function testing
HP:0031857Ineffective esophageal peristalsis
HP:0033430Non-infectious meningitis
HP:0033834Malaise
HP:0100721Mediastinal lymphadenopathy
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.17 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 3 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.7 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Annual incidence | 1-9 / 100 000 | 1.9 | United States | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.8 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)