{"orpha":728,"name":"Relapsing polychondritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Polychondropathia"],"definition":"A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-728/","orphanet_url":"https://www.orpha.net/en/disease/detail/728","names":{"fr":{"name":"Polychondrite atrophiante","synonyms":["Polychondrite récidivante","Polychondropathie"],"definition":"Maladie inflammatoire multisystémique rare cliniquement hétérogène caractérisée par une inflammation du cartilage et des structures riches en protéoglycanes, pouvant endommager le cartilage et être à l'origine d'une atteinte articulaire, oculaire et cardiovasculaire."},"de":{"name":"Polychondritis, rezidivierende","definition":"Eine seltene, klinisch heterogene, multisystemische entzündliche Erkrankung, die durch eine Entzündung des Knorpels und der proteoglykanreichen Strukturen gekennzeichnet ist und zu Knorpelschäden sowie einer Beteiligung der Gelenke, der Augen und des Herz-Kreislauf-Systems führt."},"es":{"name":"Policondritis recidivante","definition":"Es una enfermedad inflamatoria multisistémica, poco frecuente, clínicamente heterogénea, caracterizada por la inflamación del cartílago y las estructuras ricas en proteoglicanos que conducen al daño del cartílago junto con afectación articular, ocular y cardiovascular."},"it":{"name":"Policondrite ricorrente","definition":"La policondrite ricorrente (RP) è una malattia infiammatoria multisistemica rara, eterogena dal punto di vista clinico, caratterizzata dall'infiammazione della cartilagine e delle strutture ricche in proteoglicano, che esita in un danno a livello delle cartilagini, con un interessamento delle articolazioni, degli occhi e del sistema cardiovascolare."},"nl":{"name":"Recidiverende polychondritis","synonyms":["Polychondropathie"],"definition":"Een zeldzame, klinisch heterogene, multisystemische inflammatoire ziekte gekarakteriseerd door ontsteking van kraakbeen en proteoglycaan-rijke structuren die leiden tot beschadiging van kraakbeen, in combinatie met betrokkenheid van gewrichten, ogen en het cardiovasculair systeem."},"pt":{"name":"Policondrite recorrente"},"pl":{"name":"Nawracające zapalenie chrząstek","synonyms":["Polychondropathia"],"definition":"Nawracające zapalenie chrząstek (RP) jest rzadką, klinicznie niejednorodną wieloukładową chorobą zapalną, którą cechuje zapalenie chrząstki oraz struktur bogatych w proteoglikan, prowadzące do zniszczenia chrząstki w obrębie stawów, oczu i układu sercowo-naczyniowego."},"cs":{"name":"Relabující polychondritida","synonyms":["Polychondropathia"]},"uk":{"name":"Рецидивуючий поліхондрит","synonyms":["Поліхондропатія"],"definition":"A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement."},"zh":{"name":"复发性多软骨炎","synonyms":["多软骨炎"]},"tr":{"name":"Tekrarlayan polikondrit","synonyms":["Polikondropati"]}},"xrefs":[{"source":"ICD-10","code":"M94.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB82.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1412888287"},{"source":"MONDO","code":"0019125","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032453","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"United States","status":"Validated","source":"21962557[PMID]_14673390[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Worldwide","status":"Validated","source":"21962557[PMID]_14673390[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"United Kingdom","status":"Validated","source":"26187053[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.52,"area":"United Kingdom","status":"Validated","source":"26187053[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-05","source":"28613778[PMID]","terms":[{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100662","label":"Chondritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200047","label":"Chondritis of pinna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005310","label":"Large vessel vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002786","label":"Tracheobronchomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031481","label":"Abnormal mitral valve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004306","label":"Abnormality of the endocardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100534","label":"Episcleritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001686","label":"Loss of voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033380","label":"Nasal chondritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100532","label":"Scleritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004418","label":"Thrombophlebitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}