Systemic lupus erythematosus
ORPHA:536DiseaseNot applicableAdolescent, Adult, Childhood, Infancy
Ассоциированные гены30
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BANK1 | B cell scaffold protein with ankyrin repeats 1 | Major susceptibility factor in | gene with protein product | 610292 |
| PXK | PX domain containing serine/threonine kinase like | Major susceptibility factor in | gene with protein product | 611450 |
| IGHG1 | immunoglobulin heavy constant gamma 1 (G1m marker) | Modifying germline mutation in | gene with protein product | 147100 |
| CTLA4 | cytotoxic T-lymphocyte associated protein 4 | Major susceptibility factor in | gene with protein product | 123890 |
| TREX1 | three prime repair exonuclease 1 | Major susceptibility factor in | gene with protein product | 606609 |
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | Major susceptibility factor in | gene with protein product | 142857 |
| IL10 | interleukin 10 | Major susceptibility factor in | gene with protein product | 124092 |
| MECP2 | methyl-CpG binding protein 2 | Major susceptibility factor in | gene with protein product | 300005 |
| FCGR3B | Fc fragment of IgG receptor IIIb | Major susceptibility factor in | gene with protein product | 610665 |
| C4A | complement C4A (Chido/Rodgers blood group) | Major susceptibility factor in | gene with protein product | 120810 |
| C4B | complement C4B (Chido/Rodgers blood group) | Major susceptibility factor in | gene with protein product | 120820 |
| CR2 | complement C3d receptor 2 | Major susceptibility factor in | gene with protein product | 120650 |
| IRF5 | interferon regulatory factor 5 | Major susceptibility factor in | gene with protein product | 607218 |
| PDCD1 | programmed cell death 1 | Major susceptibility factor in | gene with protein product | 600244 |
| PTPN22 | protein tyrosine phosphatase non-receptor type 22 | Major susceptibility factor in | gene with protein product | 600716 |
| STAT4 | signal transducer and activator of transcription 4 | Major susceptibility factor in | gene with protein product | 600558 |
| FCGR2B | Fc fragment of IgG receptor IIb | Major susceptibility factor in | gene with protein product | 604590 |
| DNASE1 | deoxyribonuclease 1 | Major susceptibility factor in | gene with protein product | 125505 |
| BLK | BLK proto-oncogene, Src family tyrosine kinase | Major susceptibility factor in | gene with protein product | 191305 |
| ITGAM | integrin subunit alpha M | Major susceptibility factor in | gene with protein product | 120980 |
| KIAA0319L | KIAA0319 like | Major susceptibility factor in | gene with protein product | 613535 |
| JAZF1 | JAZF zinc finger 1 | Major susceptibility factor in | gene with protein product | 606246 |
| TNIP1 | TNFAIP3 interacting protein 1 | Major susceptibility factor in | gene with protein product | 607714 |
| TNFAIP3 | TNF alpha induced protein 3 | Major susceptibility factor in | gene with protein product | 191163 |
| UBE2L3 | ubiquitin conjugating enzyme E2 L3 | Major susceptibility factor in | gene with protein product | 603721 |
| TNFSF4 | TNF superfamily member 4 | Major susceptibility factor in | gene with protein product | 603594 |
| 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 |
| ETS1 | ETS proto-oncogene 1, transcription factor | Major susceptibility factor in | gene with protein product | 164720 |
| TLR7 | toll like receptor 7 | Disease-causing germline mutation(s) in | gene with protein product | 300365 |
Фенотипы (HPO)44
Очень частый (80–99%)7
HP:0000093Proteinuria
HP:0001824Weight loss
HP:0001945Fever
HP:0002039Anorexia
HP:0003493Antinuclear antibody positivity
HP:0012378Fatigue
HP:0033834Malaise
Частый (30–79%)16
HP:0033726Lupus nephritis
HP:0034076Anti-ribosome Po antibody positivity
HP:0034077Anti-complement component C1q antibody positivity
HP:0045042Decreased circulating complement C4 concentration
HP:5000038Anti-titin antibody positivity
HP:0000790Hematuria
HP:0000822Hypertension
HP:0001369Arthritis
HP:0001596Alopecia
HP:0001882Leukopenia
HP:0003453Antineutrophil antibody positivity
HP:0005421Decreased circulating complement C3 concentration
HP:0005764Polyarticular arthritis
HP:0012085Pyuria
HP:0025300Malar rash
HP:0030880Raynaud phenomenon
Периодический (5–29%)19
HP:0000155Oral ulcer
HP:0000716Depression
HP:0000992Cutaneous photosensitivity
HP:0001250Seizure
HP:0001873Thrombocytopenia
HP:0001878Hemolytic anemia
HP:0002716Lymphadenopathy
HP:0007417Discoid lupus rash
HP:0020151Anti-dsDNA antibody positivity
HP:0032235Anti-La/SS-B antibody positivity
HP:0033028Anti-U1 ribonucleoprotein antibody positivity
HP:0033040Anti-Sm antibody positivity
HP:0033556Anti-nucleoporin 62 antibody positivity
HP:0034093Anti-Ro52/TRIM21 antibody positivity
HP:0034096Anti-phosphatidic acid antibody positivity
HP:0045073Serositis
HP:0100669Abnormal pigmentation of the oral mucosa
HP:0100755Abnormality of salivation
HP:0100825Cheilitis
Очень редкий (1–4%)2
HP:0000488Retinopathy
HP:0002072Chorea
Эпидемиология11
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 47 | France | Value and class |
| Point prevalence | 6-9 / 10 000 | 64.2 | Martinique | Value and class |
| Point prevalence | 1-5 / 10 000 | 14.7 | New Zealand | Value and class |
| Point prevalence | 1-5 / 10 000 | 20.6 | Korea, Republic of | Value and class |
| Point prevalence | 1-5 / 10 000 | 53.6 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 37 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Point prevalence | 1-5 / 10 000 | 28 | Finland | Value and class |
| Annual incidence | 1-9 / 100 000 | 5.14 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 43.7 | Worldwide | Value and class |
| Annual incidence | 6-9 / 10 000 | 81.84 | Poland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)