{"orpha":69126,"name":"PAPA syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FRA","Familial recurrent arthritis","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome"],"definition":"Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69126/","orphanet_url":"https://www.orpha.net/en/disease/detail/69126","names":{"fr":{"name":"Syndrome PAPA","synonyms":["Arthrite récurrente familiale","Syndrome d'arthrite purulente-pyoderma gangrenosum-acné"],"definition":"Syndrome d'arthrite purulente-pyoderma gangrenosum-acné est une affection auto-inflammatoire pléiotropique rare survenant dans l'enfance, affectant avant tout les articulations et la peau."},"de":{"name":"PAPA-Syndrom","synonyms":["Arthritis, familiäre rekurrente","FRA","Pyogene Arthritis-Pyoderma gangraenosum-Akne-Syndrom"],"definition":"Das Syndrom mit Pyogener steriler Arthritis, Pyoderma gangraenosum und Akne (PAPA) ist eine seltene, autoinflammatorische Erkrankung des Kindesalters, die hauptsächlich die Gelenke und die Haut betrifft."},"es":{"name":"Síndrome PAPA","synonyms":["Artritis recurrente familiar","Síndrome de artritis piógena-pioderma gangrenosum-acné"],"definition":"El síndrome de artritis piógena estéril, pioderma gangrenoso y acné (PAPA) es un raro trastorno pleiotrópico autoinflamatorio que afecta principalmente a articulaciones y piel."},"it":{"name":"Sindrome PAPA","synonyms":["Artrite ricorrente familiare","FRA","Sindrome artrite piogenica-pioderma gangrenoso-acne"]},"nl":{"name":"PAPA-syndroom","synonyms":["FRA","Familiale recidiverende artritis","Pyogene artritis - pyoderma gangrenosum - acne-syndroom"],"definition":"Pyogene artritis - pyoderma gangrenosum - acne-syndroom is een zeldzame pleiotrope auto-inflammatoire aandoening in de kindertijd, die vooral gewrichten en huid aantast."},"pt":{"name":"Síndrome PAPA","synonyms":["Artrite recorrente familiar","FRA","Síndrome de artrite piogénica-pioderma gangrenoso-acne"]},"pl":{"name":"Ropne zapalenie stawów - piodermia zgorzelinowa - trądzik","synonyms":["FRA","Rodzinne nawracające zapalenie stawów","Zespół PAPA"]},"cs":{"name":"Syndrom zahrnující pyogenní artritidu, pyoderma gangrenosum a akné","synonyms":["FRA","Familiární rekurentní artritida","PAPA syndrom"]},"uk":{"name":"PAPA-синдром","synonyms":["Сімейний рецидивуючий артрит","FRA","Синдром піогенного артриту - гангренозної піодермії - акне"],"definition":"Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin."},"zh":{"name":"化脓性关节炎-坏疽性脓皮病-痤疮综合征","synonyms":["家族性复发性关节炎"]},"tr":{"name":"Piyojenik artrit-piyoderma gangrenozum-akne sendromu","synonyms":["FRA","PAPA sendromu","Ailesel tekrarlayan artrit"]}},"xrefs":[{"source":"OMIM","code":"604416","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1113124609"},{"source":"MONDO","code":"0011462","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536253","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858361","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9176","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072222","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":653434,"name":"Autoinflammatory syndrome with acne and/or hidradenitis suppurativa","classifications":[187,196]},{"orpha":652510,"name":"Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa","classifications":[156]},{"orpha":324942,"name":"Pyogenic autoinflammatory syndrome of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"PSTPIP1","name":"proline-serine-threonine phosphatase interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9580","ensembl":"ENSG00000140368","omim":"606347","loci":["15q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"10.1007/978-3-319-96929-9_4[DOI]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10.1007/978-3-319-96929-9_4[DOI]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"21532836[PMID]","terms":[{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100280","label":"Crohn's disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}