{"orpha":36412,"name":"Hypocomplementemic urticarial vasculitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anti-C1q vasculitis","Mac Duffie hypocomplementemic urticarial vasculitis","Mac Duffie syndrome","McDuffie hypocomplementemic urticarial vasculitis","McDuffie syndrome"],"definition":"A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36412/","orphanet_url":"https://www.orpha.net/en/disease/detail/36412","names":{"fr":{"name":"Vascularite urticarienne hypocomplémentémique","synonyms":["Syndrome de MacDuffie","Syndrome de McDuffie","Vascularite anti-C1q","Vascularite urticarienne hypocomplémentémique de Mac Duffie","Vascularite urticarienne hypocomplémentémique de McDuffie"],"definition":"Vascularite rare des vaisseaux de petit calibre à complexes immuns caractérisée par une urticaire et une hypocomplémentémie (faibles taux de C3, C4 et/ou C1q). Elle est généralement associée à la présence d'auto-anticorps anti-C1q circulants. Arthrite, atteinte pulmonaire et inflammation oculaire sont des manifestations systémiques courantes de la maladie."},"de":{"name":"Vaskulitis, hypokomplementämische urtikarielle","synonyms":["Hypokomplementämisches Urtikaria-Vaskulitis-Syndrom","Mac-Duffie-Syndrom","McDuffie hypokomplementämische urtikarielle Vaskulitis"],"definition":"Eine seltene immunkomplexvermittelte Vaskulitis der kleinen Gefäße, die durch Urtikaria und Hypokomplementämie (niedrige C3-, C4- und/oder C1q-Spiegel) gekennzeichnet ist und in der Regel mit zirkulierenden Anti-C1q-Autoantikörpern einhergeht. Arthritis, Lungenerkrankungen und Augenentzündungen sind häufige systemische Manifestationen."},"es":{"name":"Vasculitis urticarial hipocomplementémica","synonyms":["Síndrome de Mac Duffie","Síndrome de McDuffie","Vasculitis anti-C1q","Vasculitis urticarial hipocomplementémica de Mac Duffie","Vasculitis urticarial hipocomplementémica de McDuffie"],"definition":"Es una vasculitis de pequeños vasos poco frecuente mediada por inmunocomplejos caracterizada por urticaria e hipocomplementemia (bajos niveles de C3, C4 y/o C1q), y generalmente asociada a autoanticuerpos anti-C1q circulantes. La artritis, la enfermedad pulmonar y la inflamación ocular son manifestaciones sistémicas comunes."},"it":{"name":"Vasculite orticarioide ipocomplementemica","synonyms":["Sindrome di MacDuffie","Sindrome di McDuffie","Vasculite anti-C1q","Vasculite leucocitoclastica ipocomplementemica","Vasculite orticarioide ipocomplementemica di Mac Duffie","Vasculite orticarioide ipocomplementemica di McDuffie"],"definition":"La vasculite orticarioide ipocomplementemica (HUV) è una vasculite rara dei piccoli vasi mediata da immunocomplessi, caratterizzata da orticaria e dalla riduzione dei valori del complemento (C3, C4 e/o C1q bassi), di solito associata ad autoanticorpi circolanti anti-C1q. L'artrite, la pneumopatia e l'infiammazione oculare sono sintomi sistemici comuni."},"nl":{"name":"Hypocomplementemische urticariële vasculitis","synonyms":["Syndroom van McDuffie","Anti-C1q-vasculitis","Hypocomplementemische urticariële vasculitis van Mac Duffie","Hypocomplementemische urticariële vasculitis van McDuffie","Syndroom van Mac Duffie"],"definition":"Een zeldzame immuuncomplex-gemedieerde vasculitis van kleine bloedvaten, gekenmerkt door urticaria en hypocomplementemie (weinig C3, C4 en/of C1q), meestal geassocieerd met circulerende anti-C1q auto-antilichamen. Gangbare systemische manifestaties zijn artritis, longaandoening, en oogontsteking."},"pt":{"name":"Vasculite urticariforme hipocomplementémica","synonyms":["Síndrome Mac Duffie","Síndrome McDuffie","Vasculite anti-C1q","Vasculite urticariforme hipocomplementémica Mac Duffie"],"definition":"Rara vasculite de pequenos vasos mediada por imunocomplexos caracterizada por urticária e hipocomplementémia (diminuição de C3, C4 e/ou C1q) e geralmente associada a autoanticorpos anti-C1q circulantes. Artrite, doença pulmonar, inflamação ocular são manifestações sistémicas comuns."},"pl":{"name":"Pokrzywkowe zapalenie naczyń z obniżeniem stężenia składowych dopełniacza","synonyms":["Pokrzywkowe zapalenie naczyń z obniżeniem stężenia składowych dopełniacza Mac Duffie","Pokrzywkowe zapalenie naczyń z obniżeniem stężenia składowych dopełniacza McDuffie","Zapalenie naczyń anty-C1q","Zespół Mac Duffie","Zespół McDuffie"]},"cs":{"name":"Hypokomplementemická urtikariální vaskulitida","synonyms":["Anti-C1q vaskulitida","Mac Duffieho hypokomplementemická urtikariální vaskulitida","Mac Duffieho syndrom","McDuffieho hypokomplementemická urtikariální vaskulitida","McDuffieho syndrom"]},"uk":{"name":"Гіпокомплементарний кропивяночний васкуліт","synonyms":["Анти-C1q васкуліт","Гіпокомплементарний кропивяночний васкуліт Мак Даффі","Синдром Мак Даффі","Гіпокомплементарний кропивяночний васкуліт МакДаффі","Синдром Макдаффі"],"definition":"A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations."},"zh":{"name":"低补体血性荨麻疹性血管炎","synonyms":["Mac Duffie低补体性荨麻疹性血管炎"]},"tr":{"name":"Hipokomplementemik ürtikeryal vaskülit","synonyms":["McDuffie sendromu","Anti-C1q vaskülit","Mac Duffie sendromu","McDuffie hipokomplementemik ürtikeryal vaskülit","Mac Duffie hipokomplementemik ürtikeryal vaskülit"]}},"xrefs":[{"source":"ICD-10","code":"M31.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A44.91","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"629572966"},{"source":"MONDO","code":"0018227","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343206","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6725","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":567556,"name":"Genetic systemic disease with glomerulopathy as a major feature","classifications":[156,188,233]},{"orpha":156149,"name":"Immune complex mediated vasculitis","classifications":[196,198]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]}],"children":[],"genes":[{"symbol":"DNASE1L3","name":"deoxyribonuclease 1L3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23666765[PMID]","hgnc":"2959","ensembl":"ENSG00000163687","omim":"602244","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011944","label":"Small vessel vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100665","label":"Angioedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100534","label":"Episcleritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","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:0000554","label":"Uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}