Pediatric systemic lupus erythematosus
ORPHA:93552DiseaseNot applicableAdolescent, Childhood, Infancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SAT1 | spermidine/spermine N1-acetyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 313020 |
| STAT4 | signal transducer and activator of transcription 4 | Major susceptibility factor in | gene with protein product | 600558 |
| SPP1 | secreted phosphoprotein 1 | Major susceptibility factor in | gene with protein product | 166490 |
| IRAK1 | interleukin 1 receptor associated kinase 1 | Major susceptibility factor in | gene with protein product | 300283 |
Фенотипы (HPO)53
Очень частый (80–99%)3
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005421Decreased circulating complement C3 concentration
HP:0045042Decreased circulating complement C4 concentration
Частый (30–79%)21
HP:0000079Abnormality of the urinary system
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000123Nephritis
HP:0000790Hematuria
HP:0000951Abnormality of the skin
HP:0000969Edema
HP:0000988Skin rash
HP:0001698Pericardial effusion
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0001888Lymphopenia
HP:0001937Microangiopathic hemolytic anemia
HP:0001945Fever
HP:0002202Pleural effusion
HP:0002716Lymphadenopathy
HP:0003493Antinuclear antibody positivity
HP:0003613Antiphospholipid antibody positivity
HP:0011024Abnormality of the gastrointestinal tract
HP:0025435Increased circulating lactate dehydrogenase concentration
Периодический (5–29%)21
HP:0000155Oral ulcer
HP:0000707Abnormality of the nervous system
HP:0000709Psychosis
HP:0001250Seizure
HP:0001324Muscle weakness
HP:0001369Arthritis
HP:0001541Ascites
HP:0002013Vomiting
HP:0002027Abdominal pain
HP:0002086Abnormality of the respiratory system
HP:0002094Dyspnea
HP:0002301Hemiplegia
HP:0002315Headache
HP:0002725Systemic lupus erythematosus
HP:0002829Arthralgia
HP:0003270Abdominal distention
HP:0004372Reduced consciousness/confusion
HP:0007417Discoid lupus rash
HP:0025300Malar rash
HP:0025343Lupus anticoagulant
HP:0040319Dark urine
Очень редкий (1–4%)8
HP:0001596Alopecia
HP:0002014Diarrhea
HP:0002463Language impairment
HP:0003453Antineutrophil antibody positivity
HP:0030880Raynaud phenomenon
HP:0100543Cognitive impairment
HP:0100614Myositis
HP:0100749Chest pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.1 | United States | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.7 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)