{"orpha":49041,"name":"IgG4-related retroperitoneal fibrosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Idiopathic retroperitoneal fibrosis","Ormond disease"],"definition":"A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-49041/","orphanet_url":"https://www.orpha.net/en/disease/detail/49041","names":{"fr":{"name":"Fibrose rétropéritonéale associée à IgG4","synonyms":["Fibrose rétropéritonéale idiopathique","Maladie d'Ormond"],"definition":"Maladie systémique auto-immune rare caractérisée par une masse cellulaire, une inflammation et une fibrose massives et potentiellement critiques dans les tissus mous du rétropéritoine, associées à une élévation des taux sériques d'IgG4 et à l'infiltration de plasmocytes IgG4-positifs dans au moins un organe ou un tissu. Les localisations les plus fréquentes sont périphériques à l'aorte abdominale, ainsi qu'aux artères iliaques et rénales. Les symptômes cliniques ne sont pas spécifiques et comprennent des douleurs abdominales, des douleurs dorsales et un oedème des membres inférieurs. L'affection peut se produire en même temps qu'une pathologieliée aux IgG4 dans d'autres parties du corps."},"de":{"name":"Retroperitonealfibrose, IgG4-assoziierte","synonyms":["Idiopathische retroperitoneale Fibrose","Ormond-Krankheit"],"definition":"Eine seltene systemische Autoimmunerkrankung, die durch eine Gewebeverdichtung und Fibrose in den Weichteilen des Retroperitoneums gekennzeichnet ist, verbunden mit erhöhten IgG4-Serumspiegeln und einer Infiltration von IgG4-positiven Plasmazellen in mindestens einem Organ oder an einer Stelle. Die häufigsten Lokalisationen befinden sich in der Peripherie der Bauchaorta sowie in den Becken- und Nierenarterien. Die klinischen Symptome sind unspezifisch und umfassen Unterleibsschmerzen, Rückenschmerzen und Ödeme der unteren Extremitäten. Die Erkrankung kann zusammen mit IgG4-assoziierten Erkrankungen in anderen Teilen des Körpers auftreten."},"es":{"name":"Fibrosis retroperitoneal asociada a IgG4","synonyms":["Enfermedad de Ormond","Fibrosis retroperitoneal idiopática"],"definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por inflamación y fibrosis potencialmente destructiva y formadora de masas en los tejidos blandos del retroperitoneo, asociada con elevación de los niveles séricos de IgG4 e infiltración de células plasmáticas positivas para IgG4 en al menos un órgano o sitio anatómico. Las localizaciones más frecuentes son periféricas a la aorta abdominal, así como a las arterias ilíaca y renal. Los síntomas clínicos son inespecíficos e incluyen dolor abdominal, dolor de espalda y edema de las extremidades inferiores. La afección puede ocurrir junto con una enfermedad relacionada con IgG4 en otras localizaciones anatómicas."},"it":{"name":"Fibrosi retroperitoneale correlata alle IgG4","synonyms":["Fibrosi retroperitoneale","Malattia di Ormond"],"definition":"Si tratta di una malattia autoimmune sistemica rara, caratterizzata da infiammazione e fibrosi potenzialmente distruttiva con formazione di masse nei tessuti molli del retroperitoneo, associata ad un aumento dei livelli delle IgG4 nel siero e all'infiltrazione di plasmacellule IgG4-positive in almeno un organo o sito. Le localizzazioni più comuni sono le aree circostanti l'aorta addominale, le arterie iliache e renali. I segni clinici sono aspecifici e comprendono il dolore addominale, il mal di schiena e l'edema degli arti inferiori. La malattia può manifestarsi in concomitanza con la malattia correlata alle IgG4 in altre aree del corpo."},"nl":{"name":"IgG4-gerelateerde retroperitoneale fibrose","synonyms":["Idiopathische retroperitoneale fibrose","Ziekte van Ormond"],"definition":"Een zeldzame systemische auto-immuunziekte, gekarakteriseerd door massavormende, potentieel destructieve inflammatie en fibrose in weke delen van retroperitoneum, geassocieerd met toename van IgG4-gehaltes in serum en infiltratie van IgG4-positieve plasmacellen in minstens één orgaan of gebied. De meest frequente locaties zijn perifeer van abdominale aorta, alsook arteria iliaca (heupslagader) en arteria renalis (nierslagader). Klinische symptomen zijn aspecifiek en omvatten onder meer abdominale pijn, rugpijn, en oedeem van onderste ledematen. De aandoening kan samen voorkomen met IgG4-gerelateerde ziekte in andere delen van het lichaam."},"pt":{"name":"Fibrose retroperitoneal IgG4-relacionada","synonyms":["Doença de Ormond"]},"pl":{"name":"Włóknienie zaotrzewnowe zależne od IgG4","synonyms":["Choroba Ormonda","Idiopatyczna włóknienie zaotrzewnowe"]},"cs":{"name":"IgG4 asociovaná retroperitoneální fibróza","synonyms":["Ormondova choroba","Idiopatická retroperitoneální fibróza"]},"uk":{"name":"Ретроперитонеальний фіброз, повязаний з IgG4","synonyms":["Ідіопатичний ретроперитонеальний фіброз","Хвороба Ормонда"],"definition":"A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body."},"zh":{"name":"IgG4相关性腹膜后纤维化","synonyms":["特发性腹膜后纤维化"]},"tr":{"name":"IgG4--ilişkili retroperitoneal fibroz","synonyms":["Ormond hastalığı","İdiyopatik retroperitoneal fibroz"]}},"xrefs":[{"source":"OMIM","code":"228800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K66.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"900354709"},{"source":"MONDO","code":"0018848","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035357","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9568","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038979","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":165711,"name":"Rare abdominal surgical disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":165711,"name":"Rare abdominal surgical disease","classifications":[182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Finland","status":"Not yet validated","source":"16427494[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-06-19","source":"37868965[PMID]_31796497[PMID]_34669430[PMID]_","terms":[{"hpo":"HP:0012531","label":"Pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031191","label":"Deep dermal perivascular inflammatory infiltrate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003138","label":"Increased blood urea nitrogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005310","label":"Large vessel vasculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012583","label":"Unilateral renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012578","label":"Membranous nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003262","label":"Smooth muscle antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002639","label":"Budd-Chiari syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012877","label":"Retrograde ejaculation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012871","label":"Varicocele","frequency":"Very rare (<4-1%)","criteria":null}]}}