{"orpha":131,"name":"Budd-Chiari syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BCS"],"definition":"A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-131/","orphanet_url":"https://www.orpha.net/en/disease/detail/131","names":{"fr":{"name":"Syndrome de Budd-Chiari","synonyms":["BCS"],"definition":"Maladie hépatique vasculaire rare caractérisée par l'obstruction du flux veineux hépatique, affectant soit les veines hépatiques soit le segment terminal de la veine cave inférieure."},"de":{"name":"Budd-Chiari-Syndrom","synonyms":["BCS"],"definition":"Eine seltene vaskuläre Lebererkrankung, die durch eine Obstruktion des hepatischen Venenabflusses gekennzeichnet ist und entweder die Lebervenen oder das Endsegment der Vena cava inferior betrifft."},"es":{"name":"Síndrome de Budd-Chiari","synonyms":["SBC"],"definition":"Es una enfermedad vascular del hígado poco frecuente caracterizada por la obstrucción del flujo venoso hepático que afecta a las venas hepáticas o al segmento terminal de la vena cava inferior."},"it":{"name":"Sindrome di Budd-Chiari","synonyms":["BCS"],"definition":"La sindrome di Budd-Chiari (BCS) è una malattia epatica vascolare rara, caratterizzata dall'ostruzione dell'efflusso venoso epatico, che coinvolge le vene epatiche o il segmento terminale della vena cava inferiore."},"nl":{"name":"Syndroom van Budd-Chiari","synonyms":["BCS"],"definition":"Een zeldzame vasculaire aandoening van lever, gekenmerkt door obstructie van veneuze uitstroom uit lever, met betrokkenheid van ofwel venae hepaticae (leveraders), ofwel het terminale segment van vena cava inferior (onderste holle ader)."},"pt":{"name":"Síndrome Budd-Chiari","synonyms":["BCS"],"definition":"Doença vascular hepática rara caracterizada por obstrução do fluxo venoso hepático envolvendo as veias hepáticas ou o segmento terminal da veia cava inferior."},"pl":{"name":"Zespół Budda i Chiariego","synonyms":["BCS"]},"cs":{"name":"Buddův-Chiariho syndrom","synonyms":["Budd-Chiariho syndrom"]},"uk":{"name":"Синдром Бадда-Кіарі","definition":"A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava."},"zh":{"name":"布-加综合征"},"tr":{"name":"Budd-Chiari sendromu"}},"xrefs":[{"source":"OMIM","code":"600880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I82.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DB98.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1300118676"},{"source":"MONDO","code":"0010947","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006502","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0856761","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5968","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10006537","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":101938,"name":"Rare vascular liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"CALR","name":"calreticulin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"28483676[PMID]","hgnc":"1455","ensembl":"ENSG00000179218","omim":"109091","loci":["19p13.13"]},{"symbol":"F5","name":"coagulation factor V","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24755609[PMID]_26238013[PMID]","hgnc":"3542","ensembl":"ENSG00000198734","omim":"612309","loci":["1q24.2"]},{"symbol":"JAK2","name":"Janus kinase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"26557140[PMID]","hgnc":"6192","ensembl":"ENSG00000096968","omim":"147796","loci":["9p24.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Sweden","status":"Validated","source":"18694401[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Sweden","status":"Validated","source":"18694401[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Denmark","status":"Validated","source":"2010159[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Japan","status":"Validated","source":"7751574[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Japan","status":"Validated","source":"7751574[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"France","status":"Validated","source":"19433611[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Italy","status":"Validated","source":"28180235[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.087,"area":"Korea, Republic of","status":"Validated","source":"26558363[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.529,"area":"Korea, Republic of","status":"Validated","source":"26558363[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"30528513[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Worldwide","status":"Validated","source":"30528513[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-06","source":"18814079[PMID]_37018494[PMID]_26668741[PMID]","terms":[{"hpo":"HP:0001541","label":"Ascites","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033045","label":"Bipedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","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:0002040","label":"Esophageal varix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030243","label":"Hepatic vein thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}