{"orpha":289478,"name":"PASH syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"],"definition":"A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289478/","orphanet_url":"https://www.orpha.net/en/disease/detail/289478","names":{"fr":{"name":"Syndrome de pyoderma gangrenosum-acne-hidradénite suppurée","definition":"Maladie rare de la peau appartenant au spectre des syndromes auto-inflammatoires, caractérisée par la triade pyoderma gangrenosum (PG), hidradénite suppurée (HS) et acné."},"de":{"name":"PASH-Syndrom","synonyms":["Pyoderma gangraenosum-Akne-Hidradenitis suppurativa-Syndrom"],"definition":"Eine seltene Hauterkrankung, die zum Spektrum der autoinflammatorischen Syndrome gehört und durch die Trias Pyoderma gangrenosum (PG), eitrige Hidradenitis (SH) und Akne gekennzeichnet ist."},"es":{"name":"Síndrome PASH","synonyms":["Síndrome de pioderma gangrenoso-acné-hidradenitis supurativa"],"definition":"Es una enfermedad cutánea poco frecuente perteneciente al espectro de los síndromes autoinflamatorios caracterizados por la tríada de pioderma gangrenoso (PG), hidradenitis supurativa (HS) y acné."},"it":{"name":"Sindrome PASH","synonyms":["Sindrome da pioderma gangrenoso-acne-idrosadenite suppurativa"],"definition":"È una malattia cutanea rara, che rientra nel quadro delle sindromi autoinfiammatorie ed è caratterizzata dalla triade pioderma gangrenoso (PG), idrosadenite suppurativa (IS) ed acne."},"nl":{"name":"PASH-syndroom","synonyms":["Pyoderma gangrenosum - acne - hidradenitis suppurativa-syndroom"],"definition":"Een zeldzame huidziekte die behoort tot het spectrum van auto-inflammatoire syndromen en gekarakteriseerd wordt door de triade van pyoderma gangrenosum (PG), hidradenitis suppurativa (SH) en acne."},"pt":{"name":"Síndrome PASH","synonyms":["Síndrome de pioderma gangrenoso-acne-hidradenite supurativa"]},"pl":{"name":"Piodermia zgorzelinowa - trądzik - ropnie mnogie pach","synonyms":["Zespół PASH"]},"cs":{"name":"Syndrom zahrnující pyoderma gangrenosum, akné a hidradenitis suppurativa","synonyms":["PASH syndrom"]},"uk":{"name":"PASH-синдром","synonyms":["Синдром гангренозної піодермії-акне-супресивного гідраденіту"],"definition":"A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne."},"zh":{"name":"坏疽脓皮病-痤疮-化脓性汗腺炎综合征","synonyms":["坏疽脓皮病-痤疮-化脓性汗腺炎综合征"],"definition":"一种属于自发性炎症综合症的罕见皮肤病，以坏疽性脓皮病（PG），化脓性汗腺炎（SH）和痤疮三联征为特征。"},"tr":{"name":"Piyoderma gangrenozum-akne-süpüratif hidradenit sendromu","synonyms":["PASH sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191642","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084535","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin 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]}],"children":[],"genes":[{"symbol":"NCSTN","name":"nicastrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25601011[PMID]","hgnc":"17091","ensembl":"ENSG00000162736","omim":"605254","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28696038[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"28696038[PMID]"}],"phenotypes":null}