Systemic sclerosis
ORPHA:90291DiseaseMultigenic/multifactorial, Not applicableAdult
Фенотипы (HPO)86
Очень частый (80–99%)7
HP:0001072Thickened skin
HP:0002829Arthralgia
HP:0003326Myalgia
HP:0003493Antinuclear antibody positivity
HP:0011024Abnormality of the gastrointestinal tract
HP:0030880Raynaud phenomenon
HP:0031359Cutaneous sclerotic plaque
Частый (30–79%)44
HP:0000077Abnormality of the kidney
HP:0000160Narrow mouth
HP:0001009Telangiectasia
HP:0001232Nail bed telangiectasia
HP:0001324Muscle weakness
HP:0001386Joint swelling
HP:0002031Abnormal esophagus morphology
HP:0002206Pulmonary fibrosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0005590Spotty hypopigmentation
HP:0006121Acral ulceration
HP:0006261Abnormal phalangeal joint morphology of the hand
HP:0006530Abnormal pulmonary interstitial morphology
HP:0007400Irregular hyperpigmentation
HP:0011838Sclerodactyly
HP:0012531Pain
HP:0025131Finger swelling
HP:0025520Calcinosis cutis
HP:0030859Anti-topoisomerase I antibody positivity
HP:0030873Anticentromere antibody positivity
HP:0031293Digital pitting scar
HP:0031917Digital ulcer
HP:0033038Anti-RNA-polymerase-III-autoantibody positivity
HP:0033394Anti-carbonic anhydrase II antibody positivity
HP:0033560Anti-PM-Scl antibody positivity
HP:0034078Anti-centromere protein A antibody positivity
HP:0034079Anti-centromere protein B antibody positivity
HP:0034080Anti-U3 RNP antibody positivity
HP:0034081Anti-Th/To antibody positivity
HP:0034082Anti-bicaudal D2 antibody positivity
HP:0034083Anti-nucleolus-organizing region antibody positivity
HP:0034085Anti-PM-Scl100 antibody positivity
HP:0034086Anti-PM-Scl75 antibody positivity
HP:0034087Anti-U11/U12 RNP antibody positivity
HP:0034088Anti-Ku antibody positivity
HP:0034089Anti-B23 antibody positivity
HP:0034090Anti-RuvBL1/2 antibody positivity
HP:0034091Anti-platelet derived growth factor receptor
HP:0034093Anti-Ro52/TRIM21 antibody positivity
HP:0034094Anti-angiotensin receptor type-1 antibody positivity
HP:0034095Anti-endothelin-1 type A receptor antibody positivity
HP:0034117Anti-angiotensin-converting enzyme 2 antibody positivity
HP:4000170Anti-platelet antigen antibody positivity
HP:4000171Anti-voltage-gated potassium channel antibody positivity
Периодический (5–29%)34
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000099Glomerulonephritis
HP:0000966Hypohidrosis
HP:0000989Pruritus
HP:0001279Syncope
HP:0001369Arthritis
HP:0001371Flexion contracture
HP:0001581Recurrent skin infections
HP:0001596Alopecia
HP:0001701Pericarditis
HP:0001708Right ventricular failure
HP:0001919Acute kidney injury
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002092Pulmonary arterial hypertension
HP:0002094Dyspnea
HP:0002244Abnormality of the small intestine
HP:0002250Abnormal large intestine morphology
HP:0002577Abnormal stomach morphology
HP:0002578Gastroparesis
HP:0002584Intestinal bleeding
HP:0002604Gastrointestinal telangiectasia
HP:0002607Bowel incontinence
HP:0002617Dilatation
HP:0002754Osteomyelitis
HP:0009771Osteolytic defects of the phalanges of the hand
HP:0011799Abnormality of facial soft tissue
HP:0012185Constrictive median neuropathy
HP:0012592Albuminuria
HP:0012622Chronic kidney disease
HP:0012819Myocarditis
HP:0031329Interstitial cardiac fibrosis
HP:0100580Barrett esophagus
Очень редкий (1–4%)1
HP:0100758Gangrene
Эпидемиология17
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15.4 | Europe | Value and class |
| Annual incidence | >1 / 1000 | 230 | Spain | Value and class |
| Point prevalence | 1-5 / 10 000 | 27.7 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.8 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 17.3 | France | Value and class |
| Annual incidence | >1 / 1000 | 110 | Greece | Value and class |
| Point prevalence | 1-5 / 10 000 | 15.4 | Greece | Value and class |
| Annual incidence | 6-9 / 10 000 | 72 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.6 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | 30 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 44.3 | Canada | Value and class |
| Annual incidence | >1 / 1000 | 204 | Australia | Value and class |
| Point prevalence | 1-5 / 10 000 | 23.3 | Australia | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.09 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.63 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-5 / 10 000 | 22.2 | Italy | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.7 | Italy | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)