{"orpha":793,"name":"SAPHO syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome"],"definition":"A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-793/","orphanet_url":"https://www.orpha.net/en/disease/detail/793","names":{"fr":{"name":"Syndrome SAPHO","synonyms":["Syndrome de synovite-acné-pustulose-hyperostose-ostéite"],"definition":"Maladie auto-inflammatoire pyogène rare, caractérisée par l'association d'une atteinte neutrophilique cutanée et d'une ostéomyélite chronique non bactérienne."},"de":{"name":"SAPHO-Syndrom","synonyms":["Synovitis - Akne - Pustulosis - Hyperostose - Osteitis"],"definition":"Eine seltene, pyogene autoinflammatorische Erkrankung, die durch die Assoziation von neutrophiler kutaner Beteiligung und chronischer nicht-bakterieller Osteomyelitis gekennzeichnet ist."},"es":{"name":"Síndrome SAPHO","definition":"Es una enfermedad autoinflamatoria piógena poco frecuente caracterizada por la asociación de afectación cutánea neutrofílica y osteomielitis crónica no bacteriana."},"it":{"name":"Sindrome SAPHO","synonyms":["Sinovite - acne - pustolosi - iperostosi - osteite"],"definition":"È una malattia autoinfiammatoria piogenica rara, caratterizzata da un infiltrato neutrofilo intracutaneo associato ad osteomielite cronica non batterica."},"nl":{"name":"SAPHO-syndroom","synonyms":["Synovitis - acne - pustulose - hyperostose - osteïtis"],"definition":"Een zeldzame, pyogene auto-inflammatoire aandoening, gekarakteriseerd door de associatie van neutrofiele cutane betrokkenheid en chronische niet-bacteriële osteomyelitis."},"pt":{"name":"Síndrome SAPHO","synonyms":["Síndrome de sinovite-acne-pustulose-hiperostose-osteíte"]},"pl":{"name":"Zespół SAPHO","synonyms":["Synovitis-acne-pustulosis-hyperostosis-osteitis syndromeZespół zapalenie błony maziowej - trądzik - łuszczyca - hiperostoza - zapalenie kości"]},"cs":{"name":"SAPHO syndrom","synonyms":["Syndrom zahrnující synovitidu, akné, pustulózu, hyperostózu a osteitidu"]},"uk":{"name":"Синдром SAPHO","synonyms":["Синдром синовіту-акне-пустульозу-гіперостозу-остеїту"],"definition":"A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis."},"zh":{"name":"SAPHO综合征","synonyms":["滑膜炎-痤疮-脓疱病-骨质增生-骨炎综合征"]},"tr":{"name":"SAPHO sendromu","synonyms":["Sinovit-akne-püstüloz-hiperostoz-osteit sendromu"]}},"xrefs":[{"source":"ICD-10","code":"M86.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1901494067"},{"source":"MONDO","code":"0019266","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020083","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7606","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051316","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":324982,"name":"OBSOLETE: Adult-onset SAPHO syndrome","status":"inactive"},{"type":"Referred to","orpha":324989,"name":"OBSOLETE: Juvenile-onset SAPHO syndrome","status":"inactive"}],"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":486955,"name":"Rare pediatric rheumatologic disease","classifications":[231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005464","label":"Craniofacial osteosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100686","label":"Enthesitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100781","label":"Abnormality of the sacroiliac joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100847","label":"Palmoplantar pustulosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}