{"orpha":64744,"name":"IgG4-related thyroid disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Riedel disease","Riedel thyroiditis"],"definition":"A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64744/","orphanet_url":"https://www.orpha.net/en/disease/detail/64744","names":{"fr":{"name":"Maladie thyroïdienne associée à IgG4","synonyms":["Maladie de Riedel","Thyroïdite de Riedel"],"definition":"Maladie fibro-inflammatoire de la glande thyroïde, plus fréquente chez les femmes, caractérisée par une masse thyroïdienne volumineuse et dure, se manifestant par des symptômes dus à la pression exercée par la masse (difficultés respiratoires et dysphagie) ou par un enrouement et une aphonie (atteinte du nerf laryngé récurrent). Elle peut souvent être associée à des tableaux fibro-inflammatoires extracervicaux tels qu'une fibrose rétropéritonéale, une cholangite sclérosante primaire et des maladies auto-immunes telles que la thyroïdite de Hashimoto, la maladie d'Addison et la maladie de Biermer."},"de":{"name":"Schilddrüsenkrankheit, IgG4-assoziierte","synonyms":["Riedel-Krankheit","Riedel-Thyreoiditis"]},"es":{"name":"Enfermedad tiroidea asociada a IgG4","synonyms":["Enfermedad de Riedel","Tiroiditis de Riedel"],"definition":"Es un trastorno fibroinflamatorio de la glándula tiroides que se presenta con mayor frecuencia en mujeres. Está caracterizado por una gran masa tiroidea firme que produce síntomas por presión (dificultad respiratoria y disfagia) o ronquera y afonía (afectación del nervio laríngeo recurrente). Se asocia con frecuencia a trastornos fibroinflamatorios extracervicales, tales como la fibrosis retroperitoneal, la colangitis esclerosante primaria y enfermedades autoinmunes, tales como el estruma de Hashimoto, la enfermedad de Addison y la enfermedad de Biermer."},"it":{"name":"Malattia tiroidea correlata a IgG4","synonyms":["Malattia di Riedel","Tiroidite di Riedel"],"definition":"La tiroidite di Riedel è una malattia fibro-infiammatoria della tiroide, che colpisce più spesso i maschi ed è caratterizzata da una massa tiroidea dura di grosse dimensioni. Esordisce con sintomi secondari alla pressione esercitata dalla massa (difficoltà respiratorie e disfagia), oppure con raucedine e afonia (conflitto con il nervo laringeo ricorrente). Spesso si associa a quadri fibro-infiammatori extracervicali, come la fibrosi retroperitoneale e la colangite sclerosante primitiva, e a malattie autoimmuni, come lo struma di Hashimoto, la malattia di Addison e la malattia di Biermer (si vedano questi termini)."},"nl":{"name":"IgG4-gerelateerde aandoening van schildklier","synonyms":["Riedel-thyreoïditis","Ziekte van Riedel"],"definition":"Een fibro-inflammatoire aandoening van schildklier die frequenter voorkomt bij vrouwen, die gekarakteriseerd wordt door een grote, harde massa in de schildklier, en die zich presenteert met druksymptomen (ademhalingsmoeilijkheden en dysfagie) of heesheid van de stem en afonie (samendrukking van nervus laryngeus recurrens). Het kan vaak geassocieerd zijn met extracervicale fibro-inflammatoire stoornissen zoals retroperitoneale fibrose, primaire scleroserende cholangitis en auto-immuunziekten zoals Hashimoto-struma, ziekte van Addison en ziekte van Biermer."},"pt":{"name":"Doença da tiroide IgG4-relacionada","synonyms":["Tiroidite de Riedel"]},"pl":{"name":"Choroba tarczycy związana z IgG4","synonyms":["Choroba Riedela","Zapalenie tarczycy Riedela"]},"cs":{"name":"Riedelova struma","synonyms":["Riedelova tyreoiditida","IgG4 asociované onemocnění štítné žlázy"]},"uk":{"name":"Захворювання щитовидної залози, повязані з IgG4","synonyms":["Хвороба Ріделя","Тиреоїдит Ріделя"],"definition":"A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease."},"zh":{"name":"IgG4相关性甲状腺疾病","synonyms":["Riedel甲状腺炎"]},"tr":{"name":"IgG4-ilişkili tiroid hastalığı","synonyms":["Riedel hastalığı","Riedel tiroiditi"]}},"xrefs":[{"source":"ICD-10","code":"E06.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1357889668"},{"source":"MONDO","code":"0018992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0154162","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039142","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":177101,"name":"Rare adult hypothyroidism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.06,"area":"United States","status":"Validated","source":"3906289[PMID]_21832114[PMID]"},{"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":"2021-09-14","source":"28101487[PMID]_33649038[PMID]_33311000[PMID]_30889549[PMID]","terms":[{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032069","label":"Anti-thyroglobulin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009798","label":"Euthyroid goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032039","label":"Abnormality of the ocular adnexa","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100732","label":"Pancreatic fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031281","label":"Sialadenitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011784","label":"Thyrotoxicosis with diffuse goiter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Excluded (0%)","criteria":null}]}}