{"orpha":284,"name":"Alveolar echinococcosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Echinococcus multilocularis infection"],"definition":"A rare parasitic disorder that occurs after ingestion of eggs of <i>Echinococcus multilocularis</i> and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284/","orphanet_url":"https://www.orpha.net/en/disease/detail/284","names":{"fr":{"name":"Echinococcose alvéolaire","synonyms":["Infection à l'echinococcus multilocularis"],"definition":"L'échinococcose alvéolaire (AE) est une maladie parasitaire rare provoquée par l'ingestion d'oeufs d'<i>Echinococcus multilocularis</i>. Elle est caractérisée par une période d'incubation asymptomatique de plusieurs années, suivie d'un passage à la chronicité se manifestant cliniquement par une douleur épigastrique et un ictère."},"de":{"name":"Echinokokkose, alveoläre","synonyms":["Echinococcus multilocularis-Infektion"]},"es":{"name":"Equinococosis alveolar","synonyms":["Infección por Echinococcus multilocularis"],"definition":"Es un raro trastorno parasitario que ocurre después de la ingestión de huevos de <i>Echinococcus multilocularis</i>. Está caracterizado por un período de incubación inicial asintomático de muchos años seguido de un curso crónico en el que las manifestaciones clínicas incluyen dolor epigástrico e ictericia."},"it":{"name":"Echinococcosi alveolare"},"nl":{"name":"Alveolaire echinokokkose","synonyms":["Infectie door Echinococcus multilocularis"],"definition":"Een zeldzame, parasitaire ziekte die voorkomt na inname van eitjes van <i>Echinococcus multilocularis</i> en die gekarakteriseerd wordt door een aanvankelijk asymptomatische incubatieperiode van vele jaren, gevolgd door een chronisch verloop met als klinische manifestaties onder meer epigastrische pijn en geelzucht."},"pt":{"name":"Equinococose alveolar"},"pl":{"name":"Echinokokoza pęcherzykowa","synonyms":["Zakażenie tasiemcem wielojamowym"]},"cs":{"name":"Alveolární echinokokóza","synonyms":["Echinococcus multilocularis infection"]},"uk":{"name":"Альвеолярний ехінококоз","synonyms":["Інфекція Echinococcus multilocularis"],"definition":"A rare parasitic disorder that occurs after ingestion of eggs of <i>Echinococcus multilocularis</i> and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice."},"zh":{"name":"泡状棘球蚴病","synonyms":["多房棘球绦虫感染"]},"tr":{"name":"Alveoler ekinokokkoz","synonyms":["Echinococcus multilocularis enfeksiyonu"]}},"xrefs":[{"source":"ICD-10","code":"B67.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B67.6","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B67.7","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1F73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1407575161"},{"source":"MONDO","code":"0017282","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"207","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":163588,"name":"Rare parasitic disease","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Europe","status":"Validated","source":"23301116[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Switzerland","status":"Validated","source":"17553227[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.014,"area":"Poland","status":"Validated","source":"23301116[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Austria","status":"Validated","source":"23628138[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"France","status":"Validated","source":"FrancEchino[OTHER]_OTHERitut de Veille Sanitaire 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-24","source":"27082120[PMID]_29564733[PMID]_20683265[PMID]","terms":[{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001407","label":"Hepatic cysts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025408","label":"Abnormal spleen morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011732","label":"Abnormality of adrenal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032445","label":"Pulmonary cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001697","label":"Abnormal pericardium morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011805","label":"Abnormal skeletal muscle morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025487","label":"Abnormality of bladder morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000775","label":"Abnormality of the diaphragm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002639","label":"Budd-Chiari syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010576","label":"Intracranial cystic lesion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}