{"orpha":536,"name":"Systemic lupus erythematosus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Disseminated lupus erythematosus","SLE"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-536/","orphanet_url":"https://www.orpha.net/en/disease/detail/536","names":{"fr":{"name":"Lupus érythémateux systémique","synonyms":["LEAD","LES","Lupus systémique","Lupus érythémateux aigu disséminé","Lupus érythémateux disséminé","SLE"]},"de":{"name":"Lupus erythematodes, systemischer","synonyms":["Lupus erythematodes, disseminierter","SLE"]},"es":{"name":"Lupus eritematoso sistémico","synonyms":["Lupus eritematoso diseminado","SLE"]},"it":{"name":"Lupus eritematoso sistemico","synonyms":["LES","Lupus eritematoso disseminato"]},"nl":{"name":"Systemische lupus erythematosus","synonyms":["Gedissemineerde lupus erythematosus","SLE"]},"pt":{"name":"Lúpus eritematoso sistémico","synonyms":["LED","LES"]},"pl":{"name":"Toczeń rumieniowaty 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in","status":"Assessed","source":"15273934[PMID]_19838195[PMID]_23966601[PMID]_23950893[PMID]_23943494[PMID]_22654485[PMID]","hgnc":"9652","ensembl":"ENSG00000134242","omim":"600716","loci":["1p13.2"]},{"symbol":"PXK","name":"PX domain containing serine/threonine kinase like","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22592861[PMID]","hgnc":"23326","ensembl":"ENSG00000168297","omim":"611450","loci":["3p14.3"]},{"symbol":"SPP1","name":"secreted phosphoprotein 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19440199[PMID]_11933203[PMID]_24023622[PMID]_18335026[PMID]_15692970[PMID]","hgnc":"11255","ensembl":"ENSG00000118785","omim":"166490","loci":["4q22.1"]},{"symbol":"STAT4","name":"signal transducer and activator of transcription 4","gene_type":"gene with protein product","association":"Major susceptibility factor 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prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":53.6,"area":"United States","status":"Validated","source":"15333286[PMID]_28968809[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":37.0,"area":"Taiwan, Province of China","status":"Validated","source":"22899470[PMID]_28968809[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":28.0,"area":"Finland","status":"Validated","source":"4001877[PMID]_28968809[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.14,"area":"Worldwide","status":"Validated","source":"36241363[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":43.7,"area":"Worldwide","status":"Validated","source":"36241363[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"6-9 / 10 000","value":81.84,"area":"Poland","status":"Validated","source":"36241363[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-20","source":"30571026[PMID]_33609799[PMID]_36231212[PMID]_23871155[PMID]_25569641[PMID]_26945378[PMID]_32098572[PMID]","terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very 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salivation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032235","label":"Anti-La/SS-B antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034093","label":"Anti-Ro52/TRIM21 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033040","label":"Anti-Sm antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033028","label":"Anti-U1 ribonucleoprotein antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033556","label":"Anti-nucleoporin 62 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034096","label":"Anti-phosphatidic acid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007417","label":"Discoid lupus rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045073","label":"Serositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}