{"orpha":596448,"name":"IgG4-related systemic disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare systemic autoimmune disease characterized by mass-forming lesions with a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform fibrosis, often displaying obliterative phlebitis, and usually accompanied by elevated serum IgG4. Almost any organ may be affected, with pancreas, salivary gland, and orbit being the most common. Multi-organ involvement (synchronously or metachronously) is typical. Many patients show lymphadenopathy, most often involving the mediastinal, intra-abdominal, axillary, and cervical nodes. Symptoms are usually attributable to the mass effect of the lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-596448/","orphanet_url":"https://www.orpha.net/en/disease/detail/596448","names":{"fr":{"name":"Maladie systémique liée à la présence d'anticorps IgG4","synonyms":["MAG4"],"definition":"Maladie systémique auto-immune rare caractérisée par des lésions massives avec un infiltrat lymphoplasmocytaire à prédominance de plasmocytes IgG4 positifs et une fibrose selon un motif storiforme, présentant souvent une phlébite oblitérante. Elle est généralement accompagnée d'un taux sérique élevé d'IgG4. Pratiquement tous les organes peuvent être touchés, mais le pancréas, les glandes salivaires et l'orbite sont parmi ceux le plus souvent atteints. L'atteinte (synchrone ou métachrone) de plusieurs organes, est typique. De nombreux patients présentent une lymphadénopathie, affectant le plus souvent les ganglions médiastinaux, intra-abdominaux, axillaires et cervicaux. Les symptômes sont généralement dus à l'effet de masse des lésions."},"de":{"name":"IgG4-assoziierte Systemkrankheit","definition":"Eine seltene systemische Autoimmunerkrankung, die durch Gewebeverdichtungen mit einem lymphoplasmatischen Infiltrat, das reich an IgG4-positiven Plasmazellen ist, und durch eine stadienförmige Fibrose gekennzeichnet ist, die häufig eine obliterative Phlebitis aufweist und in der Regel von einem erhöhten IgG4-Serum begleitet wird. Fast jedes Organ kann betroffen sein, wobei die Bauchspeicheldrüse, die Speicheldrüse und die Augenhöhle am häufigsten betroffen sind. Typisch ist die Beteiligung mehrerer Organe (synchron oder metachron). Viele Patienten weisen eine Lymphadenopathie auf, am häufigsten mit Beteiligung der mediastinalen, intraabdominalen, axillären und zervikalen Knoten. Die Symptome sind in der Regel auf die Gewebeverdichtung der Läsionen zurückzuführen."},"es":{"name":"Enfermedad sistémica asociada a IgG4","definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por lesiones formadoras de masa con un infiltrado linfoplasmocitario rico en células plasmáticas positivas para IgG4 y fibrosis estoriforme, que a menudo presenta flebitis obliterante y, por lo general, se acompaña de niveles séricos elevados de IgG4. Puede afectar prácticamente a cualquier órgano, siendo el páncreas, la glándula salival y la órbita los más comunes. La afectación multiorgánica (sincrónica o metacrónica) es habitual. Muchos pacientes muestran linfadenopatía, que afecta con mayor frecuencia a los ganglios mediastínicos, intraabdominales, axilares y cervicales. Los síntomas suelen ser atribuibles al efecto de masa de las lesiones."},"it":{"name":"Malattia sistemica correlata alle IgG4"},"nl":{"name":"IgG4-gerelateerde systemische ziekte","definition":"Een zeldzame systemische auto-immuunziekte, gekenmerkt door massavormende laesies met een lymfoplasmacytair infiltraat rijk aan IgG4-positieve plasmacellen en storiforme fibrose, die vaak obliteratieve flebitis vertonen, en meestal gepaard gaan met verhoogd IgG4-gehalte in serum. Nagenoeg elk orgaan kan getroffen worden, maar pancreas, speekselklier en oogkas worden het vaakst aangetast. Betrokkenheid van meerdere organen (synchroon of metachroon) is typerend. Vele patiënten vertonen lymfadenopathie, meestal met betrokkenheid van mediastinale, intra-abdominale, axillaire en cervicale lymfeklieren. Symptomen kunnen meestal toegeschreven worden aan het massa-effect van de laesies."},"pt":{"name":"Doença sistémica IgG4-relacionada","definition":"Doença autoimune sistémica rara caracterizada por lesões formadoras de massas com infiltrado linfoplasmocitário rico em plasmócitos positivos para IgG4 e fibrose estoriforme, muitas vezes exibindo flebite obliterante e geralmente acompanhada de IgG4 sérica elevada. Quase todos os órgãos podem ser afetados, sendo o pâncreas, a glândula salivar e a órbita os mais comuns. O envolvimento de múltiplos órgãos (de forma sincrónica ou metacrónica) é típico. Muitos doentes apresentam linfadenopatia, envolvendo mais frequentemente os gânglios mediastinais, intra-abdominais, axilares e cervicais. Os sintomas são geralmente atribuídos ao efeito de massa das lesões."},"pl":{"name":"Choroba układowa związana z IgG4","synonyms":["Choroba związana z IgG4","Systemowa choroba związana z IgG4"]},"cs":{"name":"Systémové onemocnění související s IgG4"},"uk":{"name":"Системне захворювання, повязане з IgG4","definition":"A rare systemic autoimmune disease characterized by mass-forming lesions with a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform fibrosis, often displaying obliterative phlebitis, and usually accompanied by elevated serum IgG4. Almost any organ may be affected, with pancreas, salivary gland, and orbit being the most common. Multi-organ involvement (synchronously or metachronously) is typical. Many patients show lymphadenopathy, most often involving the mediastinal, intra-abdominal, axillary, and cervical nodes. Symptoms are usually attributable to the mass effect of the lesions."},"zh":{"name":"IgG4-related systemic disease","synonyms":["IgG4-RD","IgG4-related disease"]},"tr":{"name":"IgG4-related systemic disease","synonyms":["IgG4-RD","IgG4-related disease"]}},"xrefs":[{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17287","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4087124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":284264,"name":"IgG4-related disease","classifications":[196]}],"children":[{"orpha":280302,"name":"Autoimmune pancreatitis type 1","type":"Clinical subtype"},{"orpha":449400,"name":"IgG4-related aortitis","type":"Clinical subtype"},{"orpha":79078,"name":"IgG4-related dacryoadenitis and sialadenitis","type":"Clinical subtype"},{"orpha":449395,"name":"IgG4-related kidney disease","type":"Clinical subtype"},{"orpha":63999,"name":"IgG4-related mediastinitis","type":"Clinical subtype"},{"orpha":238593,"name":"IgG4-related mesenteritis","type":"Clinical subtype"},{"orpha":449563,"name":"IgG4-related ophthalmic disease","type":"Clinical subtype"},{"orpha":449427,"name":"IgG4-related pachymeningitis","type":"Clinical subtype"},{"orpha":49041,"name":"IgG4-related retroperitoneal fibrosis","type":"Clinical subtype"},{"orpha":447764,"name":"IgG4-related sclerosing cholangitis","type":"Clinical subtype"},{"orpha":449432,"name":"IgG4-related submandibular gland disease","type":"Clinical subtype"},{"orpha":64744,"name":"IgG4-related thyroid disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Japan","status":"Validated","source":"21881964[PMID]_25360299[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.026,"area":"Japan","status":"Validated","source":"21881964[PMID]_33906357[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.576,"area":"Denmark","status":"Validated","source":"30931680[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6885,"area":"Denmark","status":"Validated","source":"30931680[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-26","source":"37868965[PMID]_29763000[PMID]_31796497[PMID]_21124086[PMID]","terms":[{"hpo":"HP:0030992","label":"Abnormal pancreatic duct morphology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031281","label":"Sialadenitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005339","label":"Abnormality of complement system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032252","label":"Granuloma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032235","label":"Anti-La/SS-B antibody positivity","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033555","label":"Anti-Ro/SS-A antibody positivity","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033040","label":"Anti-Sm antibody positivity","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033028","label":"Anti-U1 ribonucleoprotein antibody positivity","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100280","label":"Crohn's disease","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100778","label":"Cryoglobulinemia","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001945","label":"Fever","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032229","label":"Perinuclear antineutrophil antibody positivity","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}