{"orpha":79078,"name":"IgG4-related dacryoadenitis and sialadenitis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Chronic dacryoadenitis and sialadenitis","Mikulicz disease"],"definition":"IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79078/","orphanet_url":"https://www.orpha.net/en/disease/detail/79078","names":{"fr":{"name":"Dacryoadénite et sialadénite à IgG4","synonyms":["Dacryoadénite et sialadénite chroniques","Maladie de Mikulicz"],"definition":"La dacryoadénite et sialadénite à IgG4 (maladie de Mikulicz) est une maladie sclérosante liée à l'IgG4 caractérisée par un élargissement bilatéral, persistant et habituellement indolore des glandes lacrymales, parotidiennes et sous-mandibulaires, associé à des taux élevés d'immunoglobulines (Ig) G4 sériques et à un infiltrat lymophocytaire et plasmocytaire positif pour IgG4. La maladie conduit principalement à une xérostomie et une xérophtalmie, mais d'autres organes (poumons, foie, reins) peuvent aussi être affectés. Des complications telles qu'une pancréatite auto-immune (AIP), une fibrose rétropéritonéale et une néphrite tubulo-interstitielle peuvent être rapportées."},"de":{"name":"IgG4-assoziierte Dakryoadenitis und Sialoadenitis","synonyms":["Mikulicz-Krankheit","Mikulicz-Syndrom","Tränen- und Speicheldrüsenentzündung, chronische"],"definition":"Die Mikulicz-Krankheit ist eine IgG4-abhängige sklerosierende Erkrankung (s. diesen Terminus). Charakteristisch ist eine persistierende, meist schmerzlose beidseitige Vergrößerung der Tränendrüsen, der Parotiden und der Submandibulardrüsen, in Verbindung mit erhöhten Serumspiegeln des Immunglobulins (Ig) G4 und Infiltration der Drüsen mit Lymphozyten und IgG4-positiven Plasmazellen. Vor allem führt dies zu Trockenheit des Mundes und der Augen, aber auch andere Organe, z.B. Lunge, Leber und Niere, können betroffen sein. Begleitende Komplikationen sind Autoimmun-Pankreatitis (AIP), Retroperitonealfibrose und tubulo-interstitielle Nephritis (s. diese Termini)."},"es":{"name":"Dacrioadenitis y sialoadenitis asociada a IgG4","synonyms":["Dacrioadenitis y sialoadenitis crónicas","Enfermedad de Mikulicz"],"definition":"La enfermedad de Mikulicz es una enfermedad esclerosante ligada a la IgG4 (ver este término) caracterizada por un agrandamiento bilateral persistente, normalmente indoloro, de las glándulas lagrimal, parótida y submandibular, asociado con niveles elevados de inmunoglobulina (Ig) G4 sérica y con infiltración de linfocitos y plasmocitos IgG4-positivos. Predominantemente causa sequedad en boca y ojos, pero también puede afectar a otros órganos como los pulmones, hígado y riñones, y estar acompañada por complicaciones como pancreatitis autoinmune (AIP), fibrosis retroperitoneal y nefritis tubulointersticial (ver estos términos)."},"it":{"name":"Dacrioadenite e scialoadenite correlate alle IgG4","synonyms":["Malattia di Mikulicz"],"definition":"La malattia di Mikulicz è una malattia sclerosante IgG4-correlata (si veda questo termine), caratterizzata dal persistente accrescimento bilaterale, di solito indolore, delle ghiandole lacrimali, parotidi e sottomandibolari, associato a un aumento dei livelli sierici di immunoglobulina G4 e all'infiltrazione di plasmacellule IgG4-positive e linfociti. Provoca soprattutto secchezza al cavo orale e agli occhi, ma può interessare anche altri organi come i polmoni, il fegato e i reni, e può associarsi a complicazioni come la pancreatite autoimmune (AIP), la fibrosi retroperitoneale, la nefrite tubulo-interstiziale (si vedano questi termini)."},"nl":{"name":"IgG4-gerelateerde dacryoadenitis en sialoadenitis","synonyms":["Chronische dacryoadenitis en sialoadenitis","Ziekte van Mikulicz"],"definition":"De ziekte van Mikulicz is een IgG4-gerelateerde scleroserende ziekte (zie deze term) die wordt gekarakteriseerd door aanhoudende, meestal pijnloze, bilaterale vergroting van de traanklieren, oorspeekselklieren en onderkaakspeekselklieren, geassocieerd met een verhoogd gehalte immunoglobuline (Ig) G4 in het serum en met infiltratie door lymfocyten en IgG4-positieve plasmocyten. De ziekte veroorzaakt voornamelijk een droge mond en droge ogen, maar kan ook andere organen treffen zoals de longen, de lever en de nieren, en kan gepaard gaan met complicaties zoals auto-immune pancreatitis (AIP), retroperitoneale fibrose, en tubulo-interstitiële nefritis (zie deze termen)."},"pt":{"name":"Sialadenite e dacrioadenite IgG4-relacionada","synonyms":["Doença Mickulicz","Sialadenite e dacrioadenite crónica"]},"pl":{"name":"Zapalenie gruczołów łzowych i ślinianek związane z IgG4","synonyms":["Choroba Mikulicza","Przewlekłe zapalenie gruczołów łzowych i ślinianek"]},"cs":{"name":"IgG4 asociovaná sialo-dakryoadenitida","synonyms":["Chronická dakryoadenitida a sialoadenitida","Mikuliczova choroba"]},"uk":{"name":"Дакріоаденіт та сіаладеніт, повязані з IgG4","synonyms":["Хронічний дакріоаденіт та сіаладеніт","Хвороба Мікуліча"],"definition":"IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms)."},"zh":{"name":"IgG4相关性泪腺和唾液腺炎","synonyms":["慢性泪腺和唾液腺炎"]},"tr":{"name":"IgG4-ilişkili dakriyoadenit ve siyaladenit","synonyms":["Mikulicz hastalığı","Kronik dakriyoadenit ve sialadenit"]}},"xrefs":[{"source":"ICD-10","code":"K11.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"796087277"},{"source":"MONDO","code":"0019191","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026103","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051457","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":519264,"name":"Inflammatory/autoimmune disorder involving the lacrimal system","classifications":[189]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-22","source":"31598602[PMID]_26016066[PMID]_33598067[PMID]_29675343[PMID]_23242814[PMID]_32921832[PMID]","terms":[{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010287","label":"Abnormality of the submandibular glands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007734","label":"Enlarged lacrimal glands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011801","label":"Enlargement of parotid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008049","label":"Abnormality of the extraocular muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032230","label":"Cytoplasmic antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011481","label":"Abnormal lacrimal duct morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007807","label":"Optic nerve compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Very rare (<4-1%)","criteria":null}]}}