{"orpha":485426,"name":"Isolated congenital hepatic fibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated CHF"],"definition":"A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-485426/","orphanet_url":"https://www.orpha.net/en/disease/detail/485426","names":{"fr":{"name":"Fibrose congénitale hépatique isolée","synonyms":["FHC isolée"],"definition":"Maladie parenchymateuse rare du foie caractérisée par une fibrose progressive des veines portes due à un arrêt de la maturation de la plaque ductale des voies biliaires intrahépatiques. Sur le plan clinique, elle peut se manifester par une hypertension portale, une cholangite, mixte ou latente. Les symptômes apparaissent le plus souvent à l'adolescence ou au début de l'âge adulte. La fonction hépatocellulaire est relativement bien préservée."},"de":{"name":"Leberfibrose, isolierte, kongenitale","synonyms":["Isolierte CHF","Isolierte kongenitale hepatische Fibrose"],"definition":"Eine seltene parenchymatöse Lebererkrankung, die durch eine fortschreitende Fibrose der Pfortader aufgrund eines Reifungsstopps der Duktusplatte der intrahepatischen Gallengänge gekennzeichnet ist. Klinisch kann sie sich als portale hypertensive, cholangitische, gemischte oder latente Form manifestieren. Die ersten Symptome treten meist in der Jugend oder im jungen Erwachsenenalter auf. Die hepatozelluläre Funktion ist relativ gut erhalten."},"es":{"name":"Fibrosis hepática congénita aislada","synonyms":["FHC aislada"],"definition":"Es una enfermedad hepática parenquimatosa poco frecuente caracterizada por fibrosis progresiva de los tractos portales debido al cese de la maduración de la placa ductal de los conductos biliares intrahepáticos. Clínicamente, puede manifestarse como hipertensión portal, colangitis, o en formas mixtas o latentes. El inicio de los síntomas se produce principalmente en la adolescencia o en adultos jóvenes. La función hepatocelular está relativamente bien conservada."},"it":{"name":"Fibrosi epatica congenita isolata","definition":"Si tratta di una malattia rara del parenchima epatico, caratterizzata dalla fibrosi progressiva dei tratti portali, secondaria all'arresto della maturazione del piatto duttale delle vie biliari intraepatiche. Dal punto di vista clinico, la malattia può manifestarsi con ipertensione portale, colangite, nelle forme mista e latente. L'esordio avviene per lo più nell'adolescenza o nella prima età adulta. La funzione epatocellulare è relativamente conservata."},"nl":{"name":"Geïsoleerde congenitale hepatische fibrose","synonyms":["Geïsoleerde CHF"],"definition":"Een zeldzame parenchymale leveraandoening, gekarakteriseerd door progressieve fibrose van portaveld te wijten aan maturatiestop van de ductale plaat van intrahepatische galwegen. Klinisch kan de aandoening zich manifesteren als een portale hypertensieve, cholangitische, gemengde, of latente vorm. Aanvang van symptomen vindt meestal plaats in de adolescentie of jonge volwassenheid. Hepatocellulaire functie blijft relatief goed bewaard."},"pt":{"name":"Fibrose hepática isolada congénita"},"pl":{"name":"Izolowane wrodzone włóknienie wątroby","synonyms":["Izolowane CHF"]},"cs":{"name":"Izolovaná kongenitální jaterní fibróza","synonyms":["Isolated CHF"]},"uk":{"name":"Ізольований вроджений фіброз печінки","synonyms":["Ізольована CHF"],"definition":"A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved."},"zh":{"name":"单发先天性肝硬化","synonyms":["Isolated CHF"],"definition":"是一种罕见的实质性肝病，其特点是由于肝内胆管导管板成熟阻滞，导致静脉进行性纤维化。临床上可表现为门静脉高压、胆管炎、混合型或潜伏型。发病症状多在青少年或青年时期。肝细胞功能保存相对较好。"},"tr":{"name":"İzole doğumsal hepatik fibroz","synonyms":["İzole CHF"]}},"xrefs":[{"source":"ICD-10","code":"Q44.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB20.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018840","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562378","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0009714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056533","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}