{"orpha":464724,"name":"Fever-associated acute infantile liver failure syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464724/","orphanet_url":"https://www.orpha.net/en/disease/detail/464724","names":{"fr":{"name":"Syndrome d'insuffisance hépatique aiguë infantile associée à la fièvre","definition":"Maladie rare du parenchyme hépatique caractérisée par des crises récurrentes d'insuffisance hépatique aiguë précipitée par une maladie fébrile avec une apparition infantile ou dans la petite enfance. Pendant les crises pouvant engager le pronostic vital, les patients présentent des symptômes tels que des vomissements, une léthargie, une jaunisse, ainsi que des taux élevés d'enzymes hépatiques et une coagulopathie. Un traitement conservateur permet généralement un rétablissement complet entre les crises."},"de":{"name":"Fieber-assoziiertes akutes infantiles Leberversagen-Syndrom","definition":"Eine seltene genetisch bedingte parenchymatöse Lebererkrankung, bei der es im Säuglings- oder frühen Kindesalter zu wiederkehrenden Episoden von akutem Leberversagen kommt, die durch eine fiebrige Erkrankung ausgelöst werden. Während der lebensbedrohlichen Episoden zeigen die Patienten Erbrechen, Lethargie, Gelbsucht sowie erhöhte Leberenzymwerte und Koagulopathie. Zwischen den Episoden kommt es bei konservativer Behandlung in der Regel zu einer vollständigen Genesung."},"es":{"name":"Síndrome de insuficiencia hepática aguda infantil asociada a fiebre","synonyms":["Síndrome de fallo hepático agudo infantil asociado a fiebre"],"definition":"Es una enfermedad hepática parenquimatosa genética y poco frecuente caracterizada por el inicio en la lactancia o la primera infancia de episodios recurrentes de insuficiencia hepática aguda precipitados por una enfermedad febril. Durante los episodios potencialmente mortales, los pacientes presentan vómitos, letargia e ictericia, así como niveles elevados de enzimas hepáticas y coagulopatía. Con un tratamiento conservador, suele haber una recuperación completa entre episodios."},"it":{"name":"Insufficienza epatica acuta infantile associata alla febbre","definition":"Si tratta di una malattia genetica rara del parenchima epatico, caratterizzata da episodi ricorrenti di insufficienza epatica acuta, che esordiscono nel periodo neonatale o nella prima infanzia, scatenati da una malattia febbrile. Durante gli episodi potenzialmente letali, i pazienti presentano vomito, letargia, ittero, livelli elevati degli enzimi epatici e coagulopatia. Con un trattamento conservativo, di solito i pazienti recuperano completamente tra un episodio e l'altro."},"nl":{"name":"Koorts-geassocieerd acuut infantiel leverfalen-syndroom","definition":"Een zeldzame, genetische parenchymateuze aandoening van lever, gekarakteriseerd door aanvang in de zuigelingentijd of vroege kindertijd van recidiverende episodes van acuut leverfalen uitgelokt door febriele ziekte. Tijdens de levensbedreigende episodes vertonen patiënten braken, lethargie, geelzucht, alsook verhoogde gehaltes van leverenzymen en coagulopathie. Meestal zorgt conservatieve behandeling voor volledig herstel tussen episodes."},"pt":{"name":"Síndrome de insuficiência hepática aguda da infância associada a febre"},"pl":{"name":"Zespół ostrej niewydolności wątroby u niemowląt związany z gorączką"},"cs":{"name":"Syndrom jaterního selhání kojenců vázaného na horečku"},"uk":{"name":"Синдром гострої дитячої печінкової недостатності, повязаний з лихоманкою","definition":"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment."},"zh":{"name":"发热相关的急性婴儿肝衰竭综合征","definition":"一种罕见的遗传性实质性肝病，其特点是婴儿期或幼儿期开始反复发作的急性肝功能衰竭，以发热性疾病为先导。在危及生命的发作期，患者出现呕吐、嗜睡、黄疸以及肝酶水平升高和凝血功能障碍。通常在两次发作之间，经过保守治疗可以完全康复。"},"tr":{"name":"Ateşle-ilişkili akut infantil karaciğer yetmezliği sendromu"}},"xrefs":[{"source":"OMIM","code":"616483","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618641","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB91.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"NBAS","name":"NBAS subunit of NRZ tethering complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26073778[PMID]","hgnc":"15625","ensembl":"ENSG00000151779","omim":"608025","loci":["2p24.3"]},{"symbol":"RINT1","name":"RAD50 interactor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31204009[PMID]","hgnc":"21876","ensembl":"ENSG00000135249","omim":"610089","loci":["7q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"26073778[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26073778[PMID]"}],"phenotypes":null}