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Stevens-Johnson syndrome

ORPHA:36426Clinical subtypeNot applicableAll ages

Ассоциированные гены (2)

HLA-B
major histocompatibility complex, class I, B
Major susceptibility factor in
OMIM: 142830
IKZF1
IKAROS family zinc finger 1
Major susceptibility factor in
OMIM: 603023

Фенотипы (39)

Очень частый (80–99%)9
HP:0001824Weight loss
HP:0001945Fever
HP:0002014Diarrhea
HP:0002017Nausea and vomiting
HP:0008066Abnormal blistering of the skin
HP:0010783Erythema
HP:0012378Fatigue
HP:0012733Macule
HP:0100792Acantholysis
Частый (30–79%)3
HP:0001874Abnormality of neutrophils
HP:0002015Dysphagia
HP:0003781Excessive salivation
Периодический (5–29%)27
HP:0000083Renal insufficiency
HP:0000505Visual impairment
HP:0000509Conjunctivitis
HP:0000613Photophobia
HP:0000621Entropion
HP:0000795Abnormality of the urethra
HP:0001637Abnormal myocardium morphology
HP:0001645Sudden cardiac death
HP:0001658Myocardial infarction
HP:0001733Pancreatitis
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0001960Hypokalemic metabolic alkalosis
HP:0002027Abdominal pain
HP:0002043Esophageal stricture
HP:0002091Restrictive ventilatory defect
HP:0002094Dyspnea
HP:0002103Abnormality of the pleura
HP:0002205Recurrent respiratory infections
HP:0002239Gastrointestinal hemorrhage
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006554Acute hepatic failure
HP:0012735Cough
HP:0030016Dyspareunia
HP:0100518Dysuria
HP:0100806Sepsis
HP:0200020Corneal erosion

Эпидемиология (2)

Annual incidence
1-9 / 1 000 000
Europe
Point prevalence
Unknown
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы