{"orpha":83313,"name":"Boutonneuse fever","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mediterranean spotted fever"],"definition":"A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium <i>Rickettsia conorii</i>, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83313/","orphanet_url":"https://www.orpha.net/en/disease/detail/83313","names":{"fr":{"name":"Fièvre boutonneuse","synonyms":["Fièvre boutonneuse méditerranéenne"],"definition":"Rickettsiose rare de type fièvre boutonneuse causée par une infection par la bactérie <i>Rickettsia conorii</i> transmise par les tiques, caractérisée par l'apparition, après une période d'incubation d'environ une semaine, d'une fièvre suivie d'une éruption maculopapuleuse à extension centripète, qui peut évoluer vers une forme pétéchiale. Les symptômes sont des maux de tête, des myalgies et/ou des arthralgies, entre autres. La&nbsp;« tache noire » typique peut être observée à l'endroit de la morsure de tique pendant plusieurs jours. La maladie est endémique en Afrique, en Europe du Sud et en Inde."},"de":{"name":"Boutonneuse-Fieber","synonyms":["Mittelmeer-Fleckfieber"],"definition":"Eine seltene Rickettsiose, die durch eine Infektion mit dem von Zecken übertragenen Bakterium <i>Rickettsia conorii</i> verursacht wird und durch den Beginn von Fieber nach einer Inkubationszeit von etwa einer Woche gekennzeichnet ist, gefolgt von einem sich zentripetal ausbreitenden makulopapulösen Ausschlag, der in eine petechiale Form übergehen kann. Begleitsymptome sind u. a. Kopfschmerzen, Myalgie und/oder Arthralgie. Die typische \"tache noire\" kann mehrere Tage lang an der Stelle des Zeckenstichs beobachtet werden. Die Krankheit ist in Afrika, Südeuropa und Indien endemisch."},"es":{"name":"Fiebre botonosa","synonyms":["Fiebre manchada mediterránea"],"definition":"Es una rickettsiosis maculosa poco frecuente causada por una infección por la bacteria <i>Rickettsia conorii</i> transmitida por garrapatas. Está caracterizada por el inicio de fiebre después de un período de incubación de aproximadamente una semana, seguida de una erupción maculopapular de progresión centrípeta que puede evolucionar a una forma petequial. Los síntomas acompañantes son cefalea, mialgia y/o artralgia, entre otros. Es posible observar el típico \"tache noire\" en el sitio de la picadura de garrapata durante varios días. La enfermedad es endémica en África, el sur de Europa y la India."},"it":{"name":"Febbre bottonosa","definition":"Si tratta di una rickettsiosi rara con febbre maculata, causata dal batterio <i>Rickettsia conorii</i> tramesso dalle zecche. È caratterizzata dall'insorgenza di febbre dopo un periodo di incubazione di una settimana circa, seguito da un'eruzione maculo-papulare con progressione centrifuga, che può evolvere in una forma petecchiale. Si associa a cefalea, mialgia e/o artralgia. La tipica ''macchia nera'' è visibile per diversi giorni nel punto in cui è avvenuto il morso della zecca. La malattia è endemica in Africa, Europa meridionale e India."},"nl":{"name":"Boutonneuse koorts","synonyms":["Fièvre boutonneuse","Mediterrane gevlekte koorts"],"definition":"Een zeldzame gevlekte koorts rickettsiose veroorzaakt door infectie met de door teken overgedragen bacterie <i>Rickettsia conorii</i>, gekarakteriseerd door aanvang van koorts na een incubatieperiode van ongeveer een week, gevolgd door centripetaal verspreidende maculopapulaire uitslag, die kan evolueren naar een petechiale vorm. Bijgaande symptomen zijn onder meer hoofdpijn, myalgie en/of artralgie. De typische ''tache noire'' kan gedurende meerdere dagen waargenomen worden ter hoogte van de tekenbeet. De ziekte is endemisch in Afrika, Zuid-Europa, en India."},"pt":{"name":"Febre de Boutonneuse","synonyms":["Febre de Marselha","Febre maculosa mediterrânica","Febre por mordedura da carraça queniana","Tifo da carraça africana","Tifo da carraça indiana","Tifo da carraça queniana"]},"pl":{"name":"Gorączka plamista Boutonneuse","synonyms":["Śródziemnomorska gorączka plamista","Śródziemnomorska gorączka plamista"]},"cs":{"name":"Marseillská horečka","synonyms":["Horečka boutonneuse","Exantematózní horečka"]},"uk":{"name":"Плямиста лихоманка","synonyms":["Середземноморська плямиста лихоманка"],"definition":"A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium <i>Rickettsia conorii</i>, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India."},"zh":{"name":"南欧斑疹热","synonyms":["地中海斑疹热"]},"tr":{"name":"Boutonneuse ateşi","synonyms":["Akdeniz benekli ateşi"]}},"xrefs":[{"source":"ICD-10","code":"A77.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"1C31.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1771381430"},{"source":"MONDO","code":"0024472","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001907","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0006060","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10006045","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101335,"name":"OBSOLETE: Indian tick typhus","status":"inactive"},{"type":"Referred to","orpha":101336,"name":"OBSOLETE: Kenya tick typhus","status":"inactive"},{"type":"Referred to","orpha":101337,"name":"OBSOLETE: Marseilles fever","status":"inactive"},{"type":"Referred to","orpha":101338,"name":"OBSOLETE: Mediterranean spotted fever","status":"inactive"}],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":102022,"name":"Spotted fever rickettsiosis","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":24.2,"area":"France","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"area":"Portugal","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-22","source":"27380385[PMID]_29855412[PMID]","terms":[{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040211","label":"Abnormality of the skin of the palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","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:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032156","label":"Skin detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very rare (<4-1%)","criteria":null}]}}