罕见病知识库 RareSeen

系统性红斑狼疮

Systemic lupus erythematosus

ORPHA:536疾病

别名

播散性红斑狼疮

基本事实

遗传方式
不适用
发病年龄
青少年期、成年期、儿童期、婴儿期
患病率
1-5 / 10 000（France）

相关基因 30

基因名称关联类型
TREX1three prime repair exonuclease 1Major susceptibility factor in
CTLA4cytotoxic T-lymphocyte associated protein 4Major susceptibility factor in
HLA-DRB1major histocompatibility complex, class II, DR beta 1Major susceptibility factor in
IGHG1immunoglobulin heavy constant gamma 1 (G1m marker)Modifying germline mutation in
IL10interleukin 10Major susceptibility factor in
MECP2methyl-CpG binding protein 2Major susceptibility factor in
FCGR3BFc fragment of IgG receptor IIIbMajor susceptibility factor in
C4Acomplement C4A (Chido/Rodgers blood group)Major susceptibility factor in
C4Bcomplement C4B (Chido/Rodgers blood group)Major susceptibility factor in
CR2complement C3d receptor 2Major susceptibility factor in
BLKBLK proto-oncogene, Src family tyrosine kinaseMajor susceptibility factor in
IRF5interferon regulatory factor 5Major susceptibility factor in
PDCD1programmed cell death 1Major susceptibility factor in
PTPN22protein tyrosine phosphatase non-receptor type 22Major susceptibility factor in
STAT4signal transducer and activator of transcription 4Major susceptibility factor in
FCGR2BFc fragment of IgG receptor IIbMajor susceptibility factor in
DNASE1deoxyribonuclease 1Major susceptibility factor in
BANK1B cell scaffold protein with ankyrin repeats 1Major susceptibility factor in
ITGAMintegrin subunit alpha MMajor susceptibility factor in
KIAA0319LKIAA0319 likeMajor susceptibility factor in
PXKPX domain containing serine/threonine kinase likeMajor susceptibility factor in
JAZF1JAZF zinc finger 1Major susceptibility factor in
TNIP1TNFAIP3 interacting protein 1Major susceptibility factor in
TNFAIP3TNF alpha induced protein 3Major susceptibility factor in
UBE2L3ubiquitin conjugating enzyme E2 L3Major susceptibility factor in
TNFSF4TNF superfamily member 4Major susceptibility factor in
SPP1secreted phosphoprotein 1Major susceptibility factor in
IRAK1interleukin 1 receptor associated kinase 1Major susceptibility factor in
ETS1ETS proto-oncogene 1, transcription factorMajor susceptibility factor in
TLR7toll like receptor 7Disease-causing germline mutation(s) in

临床表型 44

极常见 99–80%7

  • 厌食症 HP:0002039
  • 抗核抗体阳性 HP:0003493
  • 疲乏 HP:0012378
  • 发热 HP:0001945
  • 全身乏力不适 HP:0033834
  • 蛋白尿 HP:0000093
  • 体重减轻 HP:0001824

常见 79–30%16

  • 脱发 HP:0001596
  • 抗补体C1q抗体阳性 HP:0034077
  • 抗核糖体PO蛋白抗体阳性 HP:0034076
  • 抗titin抗体阳性 HP:5000038
  • 抗中性粒细胞抗体阳性 HP:0003453
  • 关节炎 HP:0001369
  • 循环补体C3浓度降低 HP:0005421
  • 循环补体C4浓度降低 HP:0045042
  • 血尿 HP:0000790
  • 高血压 HP:0000822
  • 白细胞减少症 HP:0001882
  • 狼疮性肾炎 HP:0033726
  • 颧部皮疹 HP:0025300
  • 多发性关节炎 HP:0005764
  • 脓尿 HP:0012085
  • 雷诺现象 HP:0030880

偶见 29–5%19

  • 口腔粘膜色素沉着异常 HP:0100669
  • 流涎异常 HP:0100755
  • 抗 La/SS-B 抗体阳性 HP:0032235
  • 抗Ro52/TRIM21抗体阳性 HP:0034093
  • 抗Sm抗体阳性 HP:0033040
  • 抗U1核糖蛋白抗体阳性 HP:0033028
  • 抗双链DNA 抗体阳性 HP:0020151
  • 抗核孔蛋白 62 抗体阳性 HP:0033556
  • 抗磷脂酸抗体阳性 HP:0034096
  • 唇炎 HP:0100825
  • 光感性皮肤 HP:0000992
  • 抑郁 HP:0000716
  • 盘状红斑狼疮 HP:0007417
  • 溶血性贫血 HP:0001878
  • 淋巴结肿大 HP:0002716
  • 口腔溃疡 HP:0000155
  • 癫痫发作 HP:0001250
  • 浆膜腔炎症 HP:0045073
  • 血小板减少症 HP:0001873

罕见 <4–1%2

  • 舞蹈样运动 HP:0002072
  • 视网膜病变 HP:0000488

外部标识与链接

OrphanetOMIM:301080OMIM:614420MONDO:0007915ICD-10 M32.0、M32.1、M32.8、M32.9ICD-11 4A40.0ClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）