{"orpha":30391,"name":"Isolated biliary atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated atresia of bile ducts","Non-syndromic biliary atresia"],"definition":"A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-30391/","orphanet_url":"https://www.orpha.net/en/disease/detail/30391","names":{"fr":{"name":"Atrésie des voies biliaires isolée","definition":"Maladie rare des voies biliaires caractérisée par une cholangiopathie oblitérante progressive des canaux biliaires intra- et extra-hépatiques, survenant au cours de la période embryonnaire/périnatale, entraînant un ictère néonatal sévère et persistant et des selles acholiques."},"de":{"name":"Gallengangatresie, isolierte","synonyms":["Gallengangatresie, nicht-syndromale","Isolierte Atresie der Gallengänge"],"definition":"Eine seltene Erkrankung der Gallenwege, die durch eine fortschreitende obliterative Cholangiopathie der intra- und extrahepatischen Gallengänge gekennzeichnet ist und in der embryonalen/perinatalen Phase auftritt und zu schwerer und anhaltender Neugeborenengelbsucht und acholischem Stuhl führt."},"es":{"name":"Atresia biliar aislada","synonyms":["Atresia biliar no sindrómica","Atresia de vías biliares"],"definition":"Es una enfermedad de las vías biliares poco frecuente caracterizada por una colangiopatía obliterante progresiva de los conductos biliares intrahepáticos y extrahepáticos, que ocurre en el período embrionario/perinatal, que causa ictericia neonatal grave y persistente y heces acólicas."},"it":{"name":"Atresia biliare isolata","synonyms":["Atresia biliare non sindromica","Atresia dei dotti biliari"],"definition":"Si tratta di una malattia rara delle vie biliari, caratterizzata da colangiopatia obliterativa progressiva dei dotti biliari intra- ed extraepatici, che esordisce nel periodo embrionale/perinatale, causando ittero neonatale grave e persistente e feci acoliche."},"nl":{"name":"Geïsoleerde biliaire atresie","synonyms":["Geïsoleerde atresie van galwegen","Geïsoleerde galgangatresie","Niet-syndromale biliaire atresie"],"definition":"Een zeldzame aandoening van galwegen, gekarakteriseerd door progressieve, obliteratieve cholangiopathie van intra- en extrahepatische galwegen, die optreedt in de embryonale/perinatale periode en die leidt tot ernstige en aanhoudende neonatale geelzucht en acholische feces."},"pt":{"name":"Atresia biliar isolada","synonyms":["Atresia biliar não sindrómica","Atresia dos ductos biliares isolada"],"definition":"A atresia biliar (AB) é uma doença rara caracterizada por obstrução biliar de causa desconhecida que surge no período neonatal."},"pl":{"name":"Atrezja dróg żółciowych","synonyms":["Atrezja przewodów żółciowych","Niesyndromiczna obustronna atrezja dróg żółciowych"]},"cs":{"name":"Biliární atrézie","synonyms":["Nesyndromická biliární atrézie","Atrézie žlučových cest"]},"uk":{"name":"Ізольована біліарна атрезія","synonyms":["Ізольована атрезія жовчних проток","Несиндромна біліарна атрезія"],"definition":"A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool."},"zh":{"name":"孤立型胆道闭锁","synonyms":["孤立型胆管闭锁"]},"tr":{"name":"İzole biliyer atrezi","synonyms":["Sendromik olmayan biliyer atrezi","Safra kanallarının izole atrezisi"]}},"xrefs":[{"source":"OMIM","code":"210500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q44.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB20.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"645741117"},{"source":"MONDO","code":"0008867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0005411","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10004654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498345,"name":"Biliary atresia and associated disorders","classifications":[183]},{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,182,233]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Australia","status":"Validated","source":"559475[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.6,"area":"Specific population","status":"Validated","source":"4824812[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.9,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.6,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.7,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.4,"area":"Japan","status":"Validated","source":"Japanese biliary atresia OTHERistry[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"United States","status":"Not yet validated","source":"9041292[PMID]_7069535[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":32.0,"area":"French Polynesia","status":"Validated","source":"7987462[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-24","source":"26775892[PMID]_31437071[PMID]_28688594[PMID]_27346637[PMID]_8456846[PMID]_14928160[PMID]","terms":[{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011985","label":"Acholic stools","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011984","label":"Atretic gallbladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040321","label":"Dark yellow urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001408","label":"Bile duct proliferation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001405","label":"Periportal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Very rare (<4-1%)","criteria":null}]}}