{"orpha":280133,"name":"Complement component 3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["C3 deficiency"],"definition":"Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280133/","orphanet_url":"https://www.orpha.net/en/disease/detail/280133","names":{"fr":{"name":"Déficit en facteur C3 du complément","synonyms":["Déficit en C3"],"definition":"Déficit immunitaire primaire rare d'origine génétique, caractérisé par une susceptibilité aux infections (principalement par des bactéries à Gram négatif) dues à des taux plasmatiques extrêmement bas de C3. Les patients présentent généralement des épisodes récurrents de sinusite, d'amygdalite et/ou d'otite, ainsi que des infections des voies respiratoires supérieures et inférieures (y compris une pneumonie) et des infections cutanées, telles qu'un érythème polymorphe. Une maladie auto-immune ressemblant au lupus érythémateux disséminé et à la glomérulonéphrite mésangiocapillaire ou membranoproliférative peut se développer et entraîner une insuffisance rénale."},"de":{"name":"Komplement-Komponente 3-Mangel","synonyms":["C3-Mangel"]},"es":{"name":"Deficiencia del componente 3 del complemento","synonyms":["Deficiencia de C3"],"definition":"La deficiencia del componente 3 del complemento es una inmunodeficiencia primaria, genética y poco frecuente, caracterizada por susceptibilidad a infecciones (principalmente por bacterias gran negativas) debido a niveles plasmáticos de C3 extremadamente bajos. Los afectados suelen presentar episodios recurrentes de sinusitis, amigdalitis y/u otitis, así como infecciones del tracto respiratorio superior e inferior (incluida la neumonía) e infecciones cutáneas, tales como eritema multiforme. En algunos casos se puede desarrollar una enfermedad autoinmune semejante al lupus eritematoso sistémico y a la glomerulonefritis mesangiocapilar o membranoproliferativa, ocasionando insuficiencia renal."},"it":{"name":"Deficit della componente 3 del complemento","synonyms":["Deficit di C3"],"definition":"Il deficit della componente 3 del complemento è un'immunodeficienza primitiva genetica rara, caratterizzata dalla suscettibilità alle infezioni (soprattutto da batteri gram-negativi), secondaria a livelli molto bassi di C3 nel plasma. Di solito i pazienti presentano episodi ricorrenti di sinusite, tonsillite e/o otite, ed infezioni delle vie aeree superiori e inferiori (compresa la polmonite) e della cute, come l'eritema multiforme. I pazienti possono sviluppare una malattia autoimmune che ricorda il lupus eritematoso sistemico, e la glomerulonefrite mesangiocapillare o membranoproliferativa, che esitano nell'insufficienza renale."},"nl":{"name":"Complementcomponent 3-deficiëntie","synonyms":["C3-deficiëntie"],"definition":"Complementcomponent 3-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door susceptibiliteit voor infectie (voornamelijk door gramnegatieve bacteriën) door extreem lage gehaltes van C3 in het plasma. Patiënten vertonen doorgaans recurrente episodes van sinusitis, tonsillitis, en/of otitis, alsook infecties van de bovenste en onderste luchtwegen (waaronder pneumonie) en huidinfecties zoals erythema multiforme. Auto-immuunziekte lijkend op systemische lupus erythematosus en mesangiocapillaire of membranoproliferatieve glomerulonefritis kunnen ontwikkelen, met nierfalen tot gevolg."},"pt":{"name":"Deficiência de componente 3 do complemento","synonyms":["Deficiência C3"]},"pl":{"name":"Niedobór C3 składnika układu dopełniacza","synonyms":["Niedobór C3"]},"cs":{"name":"Deficit komponenty 3 komplementu","synonyms":["Deficit C3"]},"uk":{"name":"Дефіцит компонента 3 комплементу","synonyms":["Дефіцит С3"],"definition":"Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure."},"zh":{"name":"补体C3缺乏症","synonyms":["C3缺乏症"],"definition":"补体成分3缺乏症是一种罕见的遗传性原发免疫缺陷，其特征是血浆C3水平明显下降导致易感染（主要由革兰氏阴性菌引起）、鼻窦炎，反复发作的扁桃体炎和/或中耳炎，以及上呼吸道感染和下呼吸道感染（包括肺炎）和皮肤感染（如多形红斑）。自身免疫性疾病如系统性红斑狼疮，可发展为系膜毛细血管性或膜性增生性肾小球肾炎，导致肾功能衰竭。"},"tr":{"name":"Kompleman bileşeni 3 eksikliği","synonyms":["C3 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613779","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"706642911"},{"source":"MONDO","code":"0013417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1332655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":459345,"name":"Immunodeficiency due to a complement cascade component deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"C3","name":"complement C3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15781264[PMID]","hgnc":"1318","ensembl":"ENSG00000125730","omim":"120700","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"21664996[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21664996[PMID]"}],"phenotypes":null}