{"orpha":42642,"name":"PFAPA syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Marshall syndrome with periodic fever","Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"],"definition":"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-42642/","orphanet_url":"https://www.orpha.net/en/disease/detail/42642","names":{"fr":{"name":"Syndrome PFAPA","synonyms":["Fièvre périodique type Marshall","Syndrome de fièvre périodique-stomatite aphteuse-pharyngite-adénopathie"],"definition":"Le syndrome PFAPA (fièvre périodique - stomatite aphteuse - pharyngite - adénopathie) est un syndrome auto-inflammatoire caractérisé par des épisodes fébriles récurrents associés à une stomatite aphteuse, une pharyngite et une adénite cervicale."},"de":{"name":"PFAPA-Syndrom","synonyms":["Marshall-Syndrom mit periodischem Fieber","Syndrom des periodischen Fiebers, aphthöser Stomatitis, Pharyngitis und Adenitis"]},"es":{"name":"Síndrome PFAPA","synonyms":["Síndrome de Marshall con fiebre periódica","Síndrome de fiebre periódica-estomatitis aftosa-faringitis-adenopatía"],"definition":"El síndrome PFAPA (fiebre periódica - estomatitis aftosa - faringitis - adenopatía) es un síndrome autoinflamatorio caracterizado por episodios febriles recurrentes asociados a estomatitis aftosa, faringitis y adenitis cervical."},"it":{"name":"Sindrome PFAPA","synonyms":["Sindrome di Marshall con febbre periodica","Sindrome febbre periodica-stomatite aftosa-faringite-adenopatia"]},"nl":{"name":"PFAPA-syndroom","synonyms":["Periodieke koorts - afteuze stomatitis - faryngitis - adenopathie-syndroom","Syndroom van Marshall met periodieke koorts"],"definition":"PFAPA (Periodieke koorts - afteuze stomatitis - faryngitis - adenopathie)-syndroom is een auto-inflammatoir syndroom dat wordt gekarakteriseerd door terugkerende koortsachtige periodes geassocieerd met afteuze stomatitis, faryngitis en cervicale adenitis."},"pt":{"name":"Síndrome PFAPA","synonyms":["Síndrome Marshall com febre periódica","Síndrome de febre periódica-estomatite aftosa-faringite-adenopatia"]},"pl":{"name":"Zespół PFAPA","synonyms":["Zespół gorączki okresowej, aftowego zapalenia jamy ustnej, zapalenia gardła i adenopatii","Zespół Marshalla z gorączką okresową"]},"cs":{"name":"PFAPA syndrom","synonyms":["Marshallův syndrom s periodickou horečkou","Syndrom zahrnující periodickou horečku, aftózní stomatitidu, faryngitidu a adenopatii"]},"uk":{"name":"Синдром PFAPA","synonyms":["Синдром Маршалла з періодичною лихоманкою","Періодична лихоманка - афтозний стоматит - фарингіт - аденопатія"],"definition":"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."},"zh":{"name":"PFAPA综合征","synonyms":["周期热-口疮性口炎-咽炎-腺病综合征"]},"tr":{"name":"PFAPA sendromu","synonyms":["Periyodik ateşli Marshall sendromu","Periyodik ateş-aftöz stomatit-farenjit-adenopati sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"451775619"},{"source":"MONDO","code":"0018540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4082167","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5657","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070594","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":102237,"name":"Unexplained periodic fever syndrome","classifications":[196]},{"orpha":324960,"name":"Unexplained periodic fever syndrome of childhood","classifications":[231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"24505122[PMID]_24677969[PMID]"},{"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":"2024-02-07","source":"34430824[PMID]_30798384[PMID]","terms":[{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032323","label":"Periodic fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100776","label":"Recurrent pharyngitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}