{"orpha":68,"name":"Amoebiasis due to free-living amoebae","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare parasitic disease caused by free-living amoebae belonging to the <i>Acanthamoeba, Naegleria</i> and <i>Balamuthia genera</i>, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals <i>Acanthamoeba</i> genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the <i>Balamuthia</i> genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the <i>Naegleria fowleri</i> species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-68/","orphanet_url":"https://www.orpha.net/en/disease/detail/68","names":{"fr":{"name":"Amibiase à amibes libres","definition":"Parasitose rare due à des amibes libres appartenant aux genres <i>Acanthamoeba, Naegleria, Balamuthia</i>, capables de vivre à l'état autonome dans tous les milieux naturels et pouvant parasiter l'homme. Chez les personnes immunodéprimées, la contamination par le genre <i>Acanthamoeba</i> entraîne une encéphalite amibienne granulomateuse (également signalée en association avec des espèces du genre <i>Balamuthia</i>) ainsi que d'autres symptômes, notamment des manifestations cardiaques, cutanées et pulmonaires, qui influencent tous le pronostic de la pathologie. Chez les personnes immunocompétentes, l'espèce <i>Naegleria fowleri</i> est responsable de la méningo-encéphalite amibienne primaire, dont l'évolution est rapidement fatale."},"de":{"name":"Amöbiasis durch frei vorkommende Amöben","definition":"Eine seltene parasitäre Erkrankung, die durch freilebende Amöben der Gattungen <I>Acanthamoeba</I>, <I>Naegleria</I> und <I>Balamuthia</I> verursacht wird, die in allen natürlichen Umgebungen autonom überleben können und auch den Menschen parasitieren können. Bei immunsupprimierten Personen führt eine Kontamination mit der Gattung <I>Acanthamoeba</I> zu einer granulomatösen Amöbenenzephalitis (auch in Verbindung mit Arten der Gattung <I>Balamuthia</I>) sowie zu anderen Problemen wie kardialen, kutanen und pulmonalen Manifestationen, die alle die Prognose beeinflussen. Bei immunkompetenten Personen ist die Spezies <I>Naegleria fowleri</I> für die primäre Amöbenmeningoenzephalitis verantwortlich, deren Verlauf rasch tödlich ist."},"es":{"name":"Amebiasis por amebas de vida libre","definition":"Es una enfermedad parasitaria poco frecuente causada por amebas de vida libre pertenecientes a los géneros <i>Acanthamoeba</i>, <i>Naegleria</i>y <i>Balamuthia</i>, capaces de sobrevivir de forma independiente en todos los entornos naturales y de parasitar a los humanos. En los individuos inmunocomprometidos, la infección por el género <i>Acanthamoeba</i> conduce a encefalitis amebiana granulomatosa (también descrita en asociación con especies del género <i>Balamuthia</i>) acompañada de otras afecciones que incluyen manifestaciones cardíacas, cutáneas y pulmonares que determinan el pronóstico. En los individuos inmunocompetentes, la especie <i>Naegleria fowleri</i> es responsable de la meningoencefalitis amebiana primaria, de evolución rápidamente mortal."},"it":{"name":"Amebiasi con amebe libere"},"nl":{"name":"Amoebiase door vrijlevende amoeben","synonyms":["Amoebiasis door vrijlevende amoeben"],"definition":"Een zeldzame, parasitaire ziekte veroorzaakt door vrij levende amoeben die behoren tot de geslachten <i>Acanthamoeba</i>, <i>Naegleria</i> and <i>Balamuthia</i>, en die autonoom kunnen overleven in alle natuurlijke omgevingen en in staat zijn mensen te parasiteren. Bij immuungecompromitteerde individuen leidt besmetting door het genus <i>Acanthamoeba</i> tot granulomateuze amoebenencefalitis (ook gerapporteerd in associatie met soorten van het geslacht <i>Balamuthia</i>), samen met andere problemen waaronder cardiale, cutane en pulmonale manifestaties, die allen de prognose beïnvloeden. Bij immunocompetente individuen is de soort <i>Naegleria fowleri</i> verantwoordelijk voor primaire amoebenmeningo-encefalitis, waarvan de evolutie snel fataal is."},"pt":{"name":"Amebíase por amebas de vida livre"},"pl":{"name":"Ameboza wywołana wolno żyjącą amebą"},"cs":{"name":"Amébóza způsobená volně žijícími amébami"},"uk":{"name":"Амебіаз, спричинений вільноживучими амебами","definition":"A rare parasitic disease caused by free-living amoebae belonging to the <i>Acanthamoeba</i>, <i>Naegleria</i> and <i>Balamuthia</i> genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals <i>Acanthamoeba</i> genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the <i>Balamuthia</i> genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the <i>Naegleria fowleri</i> species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal."},"zh":{"name":"自由生活阿米巴所致阿米巴病"},"tr":{"name":"Serbest yaşayan amiplere bağlı amipiyaz"}},"xrefs":[{"source":"ICD-10","code":"B60.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B60.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1A36.11","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"40419529"},{"source":"ICD-11","code":"1A36.12","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"328097188"},{"source":"ICD-11","code":"1A36.1Y","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0019036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0153326","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12650","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":98010,"name":"Infectious disease of the nervous system","classifications":[181]},{"orpha":163588,"name":"Rare parasitic disease","classifications":[203]}],"children":[{"orpha":730887,"name":"Granulomatous amoebic encephalitis","type":"Clinical subtype"},{"orpha":730882,"name":"Primary amoebic meningoencephalitis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-14","source":"28664704[PMID]_23829906[PMID]","terms":[{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200149","label":"CSF lymphocytic pleiocytosis","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:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031910","label":"Abnormal cranial nerve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012286","label":"Abnormal hypothalamus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011441","label":"Abnormality of the medulla oblongata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007011","label":"Fourth cranial nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032252","label":"Granuloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020059","label":"Increased red blood cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031179","label":"Nuchal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025258","label":"Stiff neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000223","label":"Abnormality of taste sensation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040197","label":"Encephalomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004409","label":"Hyposmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031731","label":"Increased tear production","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032620","label":"Intrarenal abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001700","label":"Myocardial necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032162","label":"Unusual skin infection","frequency":"Very rare (<4-1%)","criteria":null}]}}