{"orpha":3111,"name":"Rotor syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperbilirubinemia, Rotor type"],"definition":"A rare inherited metabolic liver disease characterized by benign, chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3111/","orphanet_url":"https://www.orpha.net/en/disease/detail/3111","names":{"fr":{"name":"Syndrome de Rotor","synonyms":["Hyperbilirubinémie type Rotor"],"definition":"Maladie métabolique hépatique héréditaire rare, caractérisée par une hyperbilirubinémie bénigne, chronique, principalement conjuguée sans hémolyse ni anomalies histologiques hépatiques."},"de":{"name":"Rotor-Syndrom","synonyms":["Hyperbilirubinämie Typ Rotor"],"definition":"Das Rotor-Syndrom (RT) ist eine benigne, erbliche Funktionsstörung der Leber mit chronischer, überwiegend konjugierter, nicht-hämolytischer Hyperbilirubinämie bei normaler Leberhistologie."},"es":{"name":"Síndrome de Rotor","definition":"Es un trastorno benigno y hereditario del hígado, caracterizado por una hiperbilirrubinemia no hemolítica, crónica y predominantemente conjugada, con histología hepática normal."},"it":{"name":"Sindrome di Rotor","synonyms":["Iperbilirubinemia, tipo Rotor"]},"nl":{"name":"Syndroom van Rotor","synonyms":["Hyperbilirubinemie, Rotor-type"],"definition":"Een zeldzame erfelijke metabole leverziekte, gekenmerkt door goedaardige, chronische, hoofdzakelijk geconjugeerde, niet-hemolytische hyperbilirubinemie met normale histologie van de lever."},"pt":{"name":"Síndrome Rotor","synonyms":["Hiperbilirrubinemia, tipo Rotor"],"definition":"Uma patologia hepática benigna e hereditária caracterizada por hiperbilirrubinemia não hemolítica crónica, predominantemente conjugada, com histologia hepática normal."},"pl":{"name":"Zespół Rotora","synonyms":["Hiperbilirubinemia, typu Rotora"]},"cs":{"name":"Rotorův syndrom","synonyms":["Dědičná hyperbilirubinémie, Rotorův typ"]},"uk":{"name":"Синдром Ротора","synonyms":["Гіпербілірубінемія, тип Ротора"],"definition":"A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology."},"zh":{"name":"罗托综合征","synonyms":["高胆红素血症，Rotor型"]},"tr":{"name":"Rotor sendromu","synonyms":["Hiperbilirubinemi, Rotor tipi"]}},"xrefs":[{"source":"OMIM","code":"237450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1965776012"},{"source":"MONDO","code":"0009379","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220991","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"218","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039234","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":309816,"name":"Disorder of bilirubin metabolism and excretion","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"SLCO1B1","name":"solute carrier organic anion transporter family member 1B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22232210[PMID]_23236639[PMID]","hgnc":"10959","ensembl":"ENSG00000134538","omim":"604843","loci":["12p12.1"]},{"symbol":"SLCO1B3","name":"solute carrier organic anion transporter family member 1B3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22232210[PMID]_23236639[PMID]","hgnc":"10961","ensembl":"ENSG00000111700","omim":"605495","loci":["12p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-16","source":"26595536[PMID]_20955959[PMID]_22232210[PMID]_23236639[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031811","label":"Bilirubinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010473","label":"Porphyrinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032106","label":"Conjunctival icterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001046","label":"Intermittent jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031137","label":"Storage in hepatocytes","frequency":"Excluded (0%)","criteria":null}]}}