{"orpha":449432,"name":"IgG4-related submandibular gland disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Küttner tumor"],"definition":"A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449432/","orphanet_url":"https://www.orpha.net/en/disease/detail/449432","names":{"fr":{"name":"Maladie de la glande submandibulaire associée à IgG4","synonyms":["Maladie de la glande sous mandibulaire associée à IgG4","Tumeur de Küttner"],"definition":"Maladie rare associée aux IgG4, caractérisée par une lésion inflammatoire chronique de type tumoral bénin de la glande submandibulaire. L'examen histologique met en évidence une fibrose périductale, une atrophie acineuse, une phlébite oblitérante, un infiltrat lymphoplasmocytaire dense riche en plasmocytes positifs pour les IgG4 et des formations de follicules lymphoïdes. L'architecture lobulaire est préservée. Les patients présentent le plus souvent une tuméfaction unilatérale et indolore de la glande submandibulaire. Le test sérologique révèle des taux élevés d'IgG4."},"de":{"name":"IgG4-assoziierte chronisch-sklerosierende Sialadenitis","synonyms":["Chronisch-sklerosierende Sialadenitis der Glandula submandibularis","IgG4-assoziierte Adenitis der Glandula submandibularis","IgG4-assoziierte Speicheldrüsenentzündung"],"definition":"Eine IgG4-assoziierte Autoimmunerkrankung, die durch eine gutartige, tumorartige, chronische Entzündung der Unterkieferdrüse gekennzeichnet ist. Histologische Merkmale sind periduktale Fibrose, azinäre Atrophie, obliterative Phlebitis, dichte lymphoplasmazytische Infiltrate, die reich an IgG4-positiven Plasmazellen sind, und die Bildung von Lymphfollikeln. Die lobuläre Architektur ist erhalten. Die Patienten stellen sich meist mit einer einseitigen, schmerzlosen Schwellung der submandibulären Drüse vor. Die serologische Analyse zeigt erhöhte IgG4-Werte."},"es":{"name":"Enfermedad de la glándula submandibular asociada a IgG4","synonyms":["Tumor de Küttner"],"definition":"Es una enfermedad poco frecuente asociada a IgG4 caracterizada por una lesión inflamatoria crónica benigna similar a un tumor de la glándula submandibular. Las características histológicas son fibrosis periductal, atrofia acinar, flebitis obliterante, infiltrado linfoplasmocitario rico en células plasmáticas IgG4 positivas y formación de folículos linfoides. La arquitectura lobulillar está conservada. Los pacientes suelen presentar inflamación unilateral e indolora de la glándula submandibular. El análisis serológico revela niveles elevados de IgG4."},"it":{"name":"Malattia della ghiandola sottomandibolare correlata alle IgG4","synonyms":["Tumore di Küttner"]},"nl":{"name":"IgG4-gerelateerde aandoening van submandibulaire klier","synonyms":["Küttner-tumor"],"definition":"Een zeldzame IgG4-gerelateerde aandoening, gekenmerkt door een goedaardige tumorachtige chronische inflammatoire laesie van onderkaakspeekselklier. Histologie kenmerken zijn periductale fibrose, acinaire atrofie, obliteratieve flebitis, dense lymfoplasmacytaire infiltraten rijk aan IgG4-positieve plasmacellen, en vorming van lymfefollikels. De lobulaire architectuur blijft bewaard. Patiënten presenteren zich doorgaans met unilaterale, pijnloze zwelling van onderkaakspeekselklier. Serologisch onderzoek toont verhoogde IgG4-gehaltes."},"pt":{"name":"Doença da glândula submandibular IgG4-relacionada","synonyms":["Tumor Küttner"],"definition":"Doença rara relacionada com a IgG4, caracterizada por uma lesão inflamatória crónica benigna, semelhante a um tumor, da glândula submandibular. As características histológicas são fibrose periductal, atrofia acinar, flebite obliterativa, densos infiltrados linfoplasmocitários ricos em plasmócitos IgG4 positivos e formação de folículos linfóides. A arquitetura lobular é preservada. Os doentes apresentam habitualmente edema unilateral e indolor da glândula submandibular. A análise sorológica revela níveis elevados de IgG4."},"pl":{"name":"Choroba ślinianki podżuchwowej związana z IgG4","synonyms":["Küttner tumor"],"definition":"Rzadko występujące, IgG4-zależne schorzenie, charakteryzujące się obecnością łagodnej ​​guzowatej zmiany zapalnej ślinianki podżuchwowej o przewlekłym przebiegu. Cechy histologiczne to zwłóknienie okołoprzewodowe, zanik gronek, zarostowe zapalenie żył, gęste nacieki limfoplazmatyczne bogate w komórki plazmatyczne IgG4-dodatnie i tworzenie pęcherzyków limfatycznych. Zachowana jest architektura zrazikowa. Pacjenci najczęściej zgłaszają się z jednostronnym, bezbolesnym obrzękiem ślinianki podżuchwowej. Analiza serologiczna wykazuje podwyższone poziomy IgG4."},"cs":{"name":"IgG4 asociované postižení submandibulární slinné žlázy","synonyms":["IgG4 asociovaná sialoadenitida","Küttnerův nádor"]},"uk":{"name":"Захворювання підщелепної залози, повязане з IgG4","synonyms":["Пухлина Кюттнера"],"definition":"A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels."},"zh":{"name":"IgG4相关的下颌下腺疾病","synonyms":["IgG4相关涎腺炎"]},"tr":{"name":"IgG4-ilişkili submandibuler bez hastalığı","synonyms":["Küttner tümörü","IgG4-ilişkili sialadenit"]}},"xrefs":[{"source":"ICD-10","code":"K11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"588811750"},{"source":"MONDO","code":"0018674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679995","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24844187[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-26","source":"24332556[PMID]_33827676[PMID]_27007955[PMID]_27193771[PMID]","terms":[{"hpo":"HP:0010287","label":"Abnormality of the submandibular glands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007734","label":"Enlarged lacrimal glands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031281","label":"Sialadenitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012090","label":"Abnormal pancreas morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011801","label":"Enlargement of parotid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000024","label":"Prostatitis","frequency":"Very rare (<4-1%)","criteria":null}]}}