{"orpha":3392,"name":"Tularemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare bacterial infectious disease caused by <i>Francisella tularensis</i> and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3392/","orphanet_url":"https://www.orpha.net/en/disease/detail/3392","names":{"fr":{"name":"Tularémie","definition":"Maladie infectieuse bactérienne rare causée par <i>Francisella tularensis</i> et caractérisée par six présentations cliniques majeures selon le mode d'infection : ulcéroglandulaire, glandulaire, oropharyngée, oculoglandulaire, pneumonique ou typhoïde. Les premiers symptômes de type grippal sont communs à toutes les formes et sont accompagnés/suivis soit d'un ulcère cutané sur site d'innoculation avec une lymphadénopathie localisée, d'une lymphadénopathie isolée, d'une pharyngite chronique avec lymphadénopathie cervicale, d'une conjonctivite avec lymphadénopathie localisée, d'une atteinte pulmonaire, d'une maladie systémique sévère avec des atteintes neurologiques."},"de":{"name":"Tularämie","definition":"Eine seltene bakterielle Infektionskrankheit, die durch <i>Francisella tularensis</i> verursacht wird und durch sechs klinische Hauptformen gekennzeichnet ist: ulzeroglandulär, glandulär, oropharyngeal, okuloglandulär, pneumonisch oder typhoidal, je nach Infektionsweg. Frühe grippeähnliche Symptome sind allen Formen gemeinsam und werden entweder von einem Hautinokulationsulkus mit lokalisierter Lymphadenopathie, isolierter Lymphadenopathie, chronischer Pharyngitis mit zervikaler Lymphadenopathie, Konjunktivitis mit lokalisierter Lymphadenopathie, Lungenbefall oder einer schweren systemischen Erkrankung mit neurologischen Symptomen begleitet/gefolgt."},"es":{"name":"Tularemia","definition":"Es una enfermedad infecciosa bacteriana poco frecuente causada por <i>Francisella tularensis</i> y caracterizada por seis presentaciones clínicas principales: ulceroglandular, glandular, orofaríngea, oculoglandular, neumónica o tifoidea, dependiendo de la ruta de infección. Los síntomas tempranos similares a la gripe aparecen en todas las formas y van acompañados/seguidos de una úlcera cutánea por inoculación con linfadenopatía localizada; linfadenopatía aislada; faringitis crónica con linfadenopatía cervical; conjuntivitis con linfadenopatía localizada; afectación pulmonar; grave enfermedad sistémica con síntomas neurológicos."},"it":{"name":"Tularemia","definition":"Si tratta di una malattia infettiva batterica rara, causata dal <i>Francisella tularensis</i>, caratterizzata da sei quadri clinici principali, a seconda della via di infezione: ulcero-ghiandolare, ghiandolare, orofaringeo, oculo-ghiandolare, polmonare e tifoideo. I sintomi simil-influenzali precoci sono comuni in tutte le forme e sono associati/seguiti da un'ulcera cutanea sul sito d'inoculazione con linfoadenopatia localizzata, oppure da linfoadenopatia isolata, faringite cronica con linfoadenopatia cervicale, congiuntivite con linfoadenopatia localizzata, interessamento polmonare, o da malattia sistemica grave con sintomi neurologici."},"nl":{"name":"Tularemie","definition":"Een zeldzame, bacteriële infectieziekte, veroorzaakt door <i>Francisella tularensis</i>, en gekarakteriseerd door zes voorname klinische presentaties: ulceroglandulair, glandulair, orofaryngeaal, oculoglandulair, pneumonisch, of tyfoïdaal, afhankelijk van de route van infectie. Vroege griepachtige symptomen zijn gangbaar bij alle vormen en worden vergezeld van/gevolgd door een huidulcus op de plaats van inoculatie met gelokaliseerde lymfadenopathie; geïsoleerde lymfadenopathie; chronische faryngitis met cervicale lymfadenopathie; conjunctivitis met gelokaliseerde lymfadenopathie; betrokkenheid van long; of ernstige systemische ziekte met neurologische symptomen."},"pt":{"name":"Tularemia"},"pl":{"name":"Tularemia"},"cs":{"name":"Tularémie"},"uk":{"name":"Туляремія","definition":"A rare bacterial infectious disease caused by <i>Francisella tularensis</i> and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms."},"zh":{"name":"土拉杆菌病"},"tr":{"name":"Tularemi"}},"xrefs":[{"source":"ICD-10","code":"A21.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A21.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A21.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A21.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A21.7","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A21.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A21.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1B94","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"98016833"},{"source":"ICD-11","code":"1B94.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"2066610452"},{"source":"ICD-11","code":"1B94.Y","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014406","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0041351","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"396","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10045146","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":163582,"name":"Rare bacterial infectious disease","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"United Kingdom","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Netherlands","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Sweden","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.27,"area":"Czech Republic","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":9.1,"area":"Finland","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Austria","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Belgium","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Denmark","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Croatia","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Bulgaria","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.075,"area":"Estonia","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"France","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Germany","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Italy","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.145,"area":"Latvia","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Lithuania","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Poland","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Romania","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Slovenia","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Switzerland","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Spain","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.83,"area":"Norway","status":"Validated","source":"26738841[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Hungary","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Slovakia","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-24","source":"22911645[PMID]_26738841[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031983","label":"Abnormal pulmonary thoracic imaging finding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000033","label":"Abnormality of nasopharyngeal adenoids","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030049","label":"Brain abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012219","label":"Erythema nodosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very rare (<4-1%)","criteria":null}]}}