{"orpha":93552,"name":"Pediatric systemic lupus erythematosus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SLE, pediatric onset"],"definition":"A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93552/","orphanet_url":"https://www.orpha.net/en/disease/detail/93552","names":{"fr":{"name":"Lupus érythémateux disséminé de l'enfant","synonyms":["LES de l'enfant"],"definition":"Maladie systémique auto-immune rare caractérisée par une atteinte inflammatoire systémique, débutant avant l'âge adulte, dont les manifestations cliniques sont très inconstantes et dont l'évolution est généralement plus agressive avec un taux plus élevé d'atteinte des principaux organes que le lupus érythémateux systémique de l'adulte, entraînant d'éventuelles lésions de divers organes (par exemple, la peau, les reins, les poumons, le système nerveux)."},"de":{"name":"Lupus erythematodes, systemischer, des Kindesalters","definition":"Eine seltene, systemische Autoimmunerkrankung mit Beginn vor dem Erwachsenenalter, gekennzeichnet durch Entzündungen in beliebigen Organsystem, mit sehr variablen klinischen Manifestationen. Sie weist in der Regel einen aggressiveren Verlauf und eine höhern Rate an Hauptorganbeteiligungen als der systemische Lupus erythematodes im Erwachsenenalter auf und kann mit potenziellen Schäden an einer Vielzahl von Organen (z. B. Haut, Nieren, Lunge, Nervensystem) einergehen."},"es":{"name":"Lupus eritematoso sistémico pediátrico","definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por la inflamación de cualquier sistema orgánico, de inicio previo a la edad adulta, que presenta manifestaciones clínicas altamente variables. Por lo general, sigue un curso clínico más agresivo con un grado más elevado de afectación de órganos vitales que el lupus eritematoso sistémico de inicio en el adulto, resultando en daño potencial a una variedad de órganos (tales como la piel, los riñones, los pulmones o el sistema nervioso)."},"it":{"name":"Lupus eritematoso sistemico pediatrico","definition":"È una malattia autoimmune sistemica rara, caratterizzata da un'infiammazione che può colpire qualsiasi organo ed esordisce prima dell'età adulta. Il quadro clinico è molto variabile e, rispetto al lupus eritematoso sistemico ad esodio nell'adulto, il decorso è più aggressivo, con una maggiore percentuale di organi coinvolti (ad es. cute, reni, polmoni, sistema nervoso)."},"nl":{"name":"Pediatrische systemische lupus erythematosus","synonyms":["SLE, pediatrische aanvang"],"definition":"Een zeldzame, systemische, auto-immuunziekte die gekarakteriseerd wordt door inflammatie in eender welk orgaansysteem, die aanvangt voor de volwassenheid, en die zich presenteert met zeer variabele klinische manifestaties, met een agressiever verloop en een hogere mate van betrokkenheid van belangrijke organen in vergelijking met systemische lupus erythematosus bij volwassenen, en met potentiële schade aan verschillende organen (e.g. huid, nieren, longen, zenuwstelsel) tot gevolg."},"pt":{"name":"Lúpus eritematoso sistémico de início na idade pediátrica"},"pl":{"name":"Dziecięcy toczeń rumieniowaty układowy","synonyms":["SLE, o początku w wieku dziecięcym"]},"cs":{"name":"Systémový lupus erythematodes dětského věku","synonyms":["SLE, nástup v dětském věku"]},"uk":{"name":"Дитячий системний червоний вовчак","synonyms":["СЧВ, початок у дітей"],"definition":"A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system)."},"zh":{"name":"儿童系统性红斑狼疮","synonyms":["SLE，儿童期发病"],"definition":"一种罕见的系统性自身免疫性疾病，其特征是可能发生于任何器官系统的炎症，在成年前起病，临床表现高度多样，通常比成人发病的系统性红斑狼疮有更严重的病程和更高的重要器官受累率，可能对各种器官（如皮肤、肾脏、肺、神经系统）造成潜在的损害。"},"tr":{"name":"Pediyatrik sistemik lupus eritematozus","synonyms":["SLE, pediatrik başlangıçlı"]}},"xrefs":[{"source":"ICD-10","code":"M32.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M32.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M32.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M32.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A40.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274834","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":166484,"name":"Inflammatory and autoimmune disease with epilepsy","classifications":[181]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":264704,"name":"Secondary interstitial lung disease specific to childhood associated with a connective tissue disease","classifications":[184,233]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]},{"orpha":93573,"name":"Thrombotic microangiopathy","classifications":[188]}],"children":[],"genes":[{"symbol":"SAT1","name":"spermidine/spermine N1-acetyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35977808[PMID]","hgnc":"10540","ensembl":"ENSG00000130066","omim":"313020","loci":["Xp22.11"]},{"symbol":"IRAK1","name":"interleukin 1 receptor associated kinase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19329491[PMID]","hgnc":"6112","ensembl":"ENSG00000184216","omim":"300283","loci":["Xq28"]},{"symbol":"SPP1","name":"secreted phosphoprotein 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"24023622[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 in","status":"Assessed","source":"24023622[PMID]_17804842[PMID]","hgnc":"11365","ensembl":"ENSG00000138378","omim":"600558","loci":["2q32.2-q32.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"United States","status":"Validated","source":"34825516[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"United States","status":"Validated","source":"34825516[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-17","source":"30957986[PMID]_31012595[PMID]_31030361[PMID]_31036039[PMID]","terms":[{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040319","label":"Dark urine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007417","label":"Discoid lupus rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025343","label":"Lupus anticoagulant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Very rare (<4-1%)","criteria":null}]}}