{"orpha":244283,"name":"Biliary atresia with splenic malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BASM syndrome"],"definition":"Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-244283/","orphanet_url":"https://www.orpha.net/en/disease/detail/244283","names":{"fr":{"name":"Atrésie biliaire avec malformation splénique","synonyms":["Syndrome BASM"],"definition":"Association d'une atrésie biliaire et d'anomalies spléniques (principalement une polysplénie et, plus rarement, une asplénie ou une double rate). Une malformation cardiaque, un situs inversus et une veine porte pré-duodénale peuvent également être présents. Il s'agit de la forme embryonnaire ou syndromique de l'atrésie biliaire. Elle touche les nouveau-nés ou les nourrissons et se caractérise par un ictère, des selles pâles, une urine foncée, un retard de croissance, une hépatomégalie, une coagulopathie, une anémie et souvent une rate palpable."},"de":{"name":"Biliäre Atresie-Milzfehlbildung-Syndrom","synonyms":["BASM-Syndrom","Gallengangatresie - Milzfehlbildung"],"definition":"Das Syndrom mit biliärer Atresie und Milz-Fehlbildung (BASM) bezeichnet die Assoziation von Gallengangs-Atresie (s. dort) und Anomalien der Milz (vor allem Polysplenie und seltener Asplenie und gedoppelte Milz). Weitere mögliche Symptome sind Herzfehler, Situs inversus und prä-duodenale Pfortader. Das Syndrom repräsentiert die embryonale oder syndromale Form der Gallengangs-Atresie. Neugeborene oder Säuglinge erkranken mit Ikterus, hellen Stühlen, dunklem Urin, Gedeihstörung, Hepatomegalie, Gerinnungsstörung, Anämie und oft tastbarer Milz."},"es":{"name":"Atresia biliar con síndrome de malformación esplénica","synonyms":["Síndrome BASM"],"definition":"La atresia biliar con síndrome de malformación esplénica (BASM) designa la asociación de atresia biliar (consulte este término) y anomalías esplénicas (principalmente polisplenia y, con menor frecuencia, asplenia y bazo doble). También pueden estar presentes defectos cardíacos como situs inversus y una vena porta preduodenal. Representa la forma embrionaria o sindrómica de la atresia biliar. Afecta a neonatos o a niños y está caracterizada por ictericia, heces pálidas, orina oscura, retraso en el desarrollo, hepatomegalia, coagulopatía, anemia y, a menudo, un bazo palpable."},"it":{"name":"Atresia biliare associata a sindrome da malformazione splenica","synonyms":["Sindrome BASM"],"definition":"L'atresia biliare con sindrome da malformazione splenica (BASM) designa l'associazione tra atresia biliare (si veda questo termine) e anomalie spleniche (in particolare, polisplenia e, meno di frequente, asplenia, doppia milza). Possono essere presenti anche cardiopatie, sito inverso e una vena porta preduodenale. Questa condizione è la forma sindromica o embrionale dell'atresia biliare. Interessa i neonati o i bambini ed è caratterizzata da ittero, feci ipocromiche, urine scure, ritardo della crescita, epatomegalia, coagulopatia, anemia e, spesso, vescica palpabile."},"nl":{"name":"Atresie van galwegen met malformatie van milt-syndroom","synonyms":["BASM-syndroom"],"definition":"Een syndroom, gekenmerkt door de associatie van atresie van galwegen en afwijkingen van milt (vooral polysplenie en minder vaak asplenie, dubbele milt). Hartdefect, situs inversus, en preduodenale poortader kunnen ook aanwezig zijn. Het vertegenwoordigt de embryonale of syndromale vorm van atresie van galwegen. De aandoening treft neonaten of zuigelingen, en wordt gekenmerkt door geelzucht, bleke ontlasting, donkere urine, niet-gedijen, hepatomegalie, coagulopathie, anemie, en vaak palpabele milt."},"pt":{"name":"Atrésia biliar com síndrome de malformação esplénica","synonyms":["Síndrome BASM"]},"pl":{"name":"Zespół atrezji przewodów żółciowych z malformacją śledziony","synonyms":["Zespół BASM"]},"cs":{"name":"Syndrom bilaterální atrézie s malformací sleziny","synonyms":["BASM syndrom"]},"uk":{"name":"Біліарна атрезія з синдромом мальформації селезінки","synonyms":["Синдром BASM"],"definition":"Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen."},"zh":{"name":"胆道闭锁伴脾畸形综合征","synonyms":["BASM综合征"],"definition":"胆道闭锁伴脾畸形综合征（BASM）是指胆道闭锁（见该词条）伴有脾脏异常（主要是多脾，较少发生无脾，双脾）。也可出现心脏缺陷、左右转位和十二指肠前门静脉症。它是胆道闭锁的胚胎或综合征形式。本病影响新生儿或婴儿，其特征是黄疸、大便苍白、小便发黑、体重增长不良、肝肿大、凝血病、贫血和脾脏可触及。"},"tr":{"name":"Splenik malformasyon sendromu ile seyreden biliyer atrezi","synonyms":["BASM sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q44.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016577","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":498350,"name":"Syndromic biliary atresia","classifications":[183]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,182]}],"children":[],"genes":[{"symbol":"CFC1","name":"cryptic, EGF-CFC family member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18162845[PMID]","hgnc":"18292","ensembl":"ENSG00000136698","omim":"605194","loci":["2q21.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}