{"orpha":300345,"name":"Autosomal systemic lupus erythematosus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal SLE","Familial SLE","Familial systemic lupus erythematosus"],"definition":"A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300345/","orphanet_url":"https://www.orpha.net/en/disease/detail/300345","names":{"fr":{"name":"Lupus érythémateux systémique autosomique","synonyms":["LES autosomique","LES familial","Lupus systémique autosomique","Lupus systémique familial","Lupus érythémateux systémique familial","SLE autosomique","SLE familial"],"definition":"Maladie multisystémique auto-immune chronique rare, d'origine génétique, caractérisée par la présence de symptômes de lupus érythémateux disséminé chez deux ou plusieurs membres d'une même famille. Les patients présentent un large éventail de manifestations cliniques, notamment cutanées (éruption malaire, photosensibilité), oculaires (kératoconjonctivite sèche, rétinopathie), gastro-intestinales (ulcérations buccales, douleurs abdominales), cardiaques (athérosclérose, douleurs thoraciques), pulmonaires (sérosité, pleurésie), musculosquelettiques (arthralgie, myalgie), rénales (néphrite, hématurie), obstétricales (augmentation du nombre d'avortements spontanés, lupus néonatal), constitutionnelles (fatigue, perte d'appétit) et neuropsychiatriques (troubles de l'humeur et cognitifs), entre autres."},"de":{"name":"Lupus erythematodes, systemischer, autosomal-rezessiver","synonyms":["SLE, autosomal-rezessiver","SLE, familiärer","Lupus erythematodes, systemischer, familiäre Form"]},"es":{"name":"Lupus eritematoso sistémico autosómico","synonyms":["LES autosómico","LES familiar","Lupus eritematoso sistémico familiar"],"definition":"El lupus eritematoso sistémico autosómico es una enfermedad autoinmune crónica, multisistémica, genética y poco frecuente, caracterizada por la presencia de síntomas sistémicos de lupus eritematoso en dos o más miembros de una familia. Los afectados presentan un amplio espectro de manifestaciones clínicas, que incluyen entre otras: afectación cutánea (erupción malar, fotosensibilidad), ocular (queratoconjuntivitis sicca, retinopatía), gastrointestinal (ulceración oral, dolor abdominal), cardíaca (aterosclerosis, dolor de pecho), pulmonar (serositis, pleuresía), musculoesquelética (artralgia, mialgia), renal (nefritis, hematuria), obstétrica (aumento de abortos espontáneos, lupus neonatal), constitucional (fatiga, pérdida de apetito) y neuropsiquiátrica (alteraciones del estado de ánimo y trastornos cognitivos)."},"it":{"name":"Lupus eritematoso sistemico autosomico","synonyms":["Lupus eritematoso sistemico familiare","SLE autosomico recessivo","SLE familiare"],"definition":"Il lupus eritematoso sistemico autosomico è una malattia genetica rara, autoimmune, cronica multisistemica, caratterizzata dai sintomi del lupus eritematoso sistemico che si manifestano in due o più membri della stessa famiglia. I pazienti presentano un'ampia gamma di segni clinici cutanei (eruzione nella regione malare, fotosensibilità), oculari (cheratocongiuntivite secca, retinopatia), gastrointestinali (ulcere orali, dolore addominale), cardiaci (aterosclerosi, dolore toracico), polmonari (sierosite, pleurite), muscoloscheletrici (artralgia, mialgia), renali (nefrite, ematuria), ostetrici (poliabortività spontanea, lupus neonatale), costituzionali (affaticamento, perdita dell'appetito) e neuropsichiatrici (disturbi dell'umore e deficit cognitivo)."},"nl":{"name":"Autosomale systemische lupus erythematosus","synonyms":["Autosomale SLE","Familiale SLE","Familiale systemische lupus erythematosus"],"definition":"Autosomale systemische lupus erythematosus is een zeldzame, genetische, multisystemische, chronische auto-immuunziekte die gekarakteriseerd wordt door de aanwezigheid van symptomen van systemische lupus erythematosus in twee of meer leden van één enkele familie Patiënten vertonen een breed spectrum van klinische manifestaties, met onder meer cutane (uitslag op de wangen, lichtgevoeligheid), oculaire (keratoconjunctivitis sicca, retinopathie), gastro-intestinale (orale ulceratie, buikpijn), cardiale (atherosclerose, pijn in de borst), pulmonale (serositis, pleuritis), musculoskeletale (artralgie, myalgie), renale (nefritis, hematurie), obstetrische (verhoogde spontane abortussen, neonatale lupus), constitutionele (vermoeidheid, verlies van eetlust) en neuropsychiatrische (stemmings- en cognitieve stoornissen) betrokkenheid."},"pt":{"name":"Lúpus eritematoso sistémico autossómico"},"pl":{"name":"Autosomalny toczeń rumieniowaty układowy","synonyms":["Rodzinny SLE","Autosomalny SLE","Rodzinny toczeń rumieniowaty układowy"]},"cs":{"name":"Autozomálně recesivní systémový lupus erythematodes","synonyms":["Familiární SLE","Familiární systémový lupus erythematodes","Autozomálně recesivní SLE"]},"uk":{"name":"Аутосомний системний червоний вовчак","synonyms":["Аутосомний СЧВ","Сімейний СЧВ","Сімейний системний червоний вовчак"],"definition":"A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others."},"zh":{"name":"常染色体遗传系统性红斑狼疮","synonyms":["常染色体遗传系统性红斑狼疮"],"definition":"常染色体遗传系统性红斑狼疮是一种罕见的遗传性、多系统性、慢性自身免疫性疾病，其特征是在一个家族中两个或多个成员出现系统性红斑狼疮症状。患者有广泛的临床表现，包括皮肤（蝶形红斑、光敏感）、眼部（干燥性角结膜炎、视网膜病变）、胃肠道（口腔溃疡、腹痛）、心脏（动脉粥样硬化、胸痛）、肺（浆膜炎、胸膜炎）、肌肉骨骼（关节痛、肌痛）、肾（肾炎，血尿）、产科（自然流产增多、新生儿狼疮）、体质（疲劳、食欲不振）和神经精神（情绪和认知障碍）等。"},"tr":{"name":"Otozomal sistemik lupus eritematozus","synonyms":["Ailesel SLE","Otozomal SLE","Ailesel sistemik lupus eritematozus"]}},"xrefs":[{"source":"OMIM","code":"614420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M32.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A40.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750787","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":459353,"name":"OBSOLETE: C1 inhibitor deficiency","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"C1R","name":"complement C1r","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28544690[PMID]","hgnc":"1246","ensembl":"ENSG00000159403","omim":"613785","loci":["12p13.31"]},{"symbol":"DNASE1L3","name":"deoxyribonuclease 1L3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22019780[PMID]","hgnc":"2959","ensembl":"ENSG00000163687","omim":"602244","loci":["3p14.3"]},{"symbol":"DNASE1","name":"deoxyribonuclease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11479590[PMID]","hgnc":"2956","ensembl":"ENSG00000213918","omim":"125505","loci":["16p13.3"]},{"symbol":"C1QA","name":"complement C1q A chain","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15032584[PMID]","hgnc":"1241","ensembl":"ENSG00000173372","omim":"120550","loci":["1p36.12"]},{"symbol":"C4A","name":"complement C4A (Chido/Rodgers blood group)","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15032584[PMID]","hgnc":"1323","ensembl":"ENSG00000244731","omim":"120810","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"22019780[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}