{"orpha":234,"name":"Dubin-Johnson syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dubin-Sprinz disease","Hyperbilirubinemia type 2","Sprinz-Nelson syndrome"],"definition":"A rare metabolic liver disease characterized clinically by a benign, chronic, predominantly conjugated hyperbilirubinemia, and histopathologically by black-brown pigment deposition in parenchymal liver cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-234/","orphanet_url":"https://www.orpha.net/en/disease/detail/234","names":{"fr":{"name":"Syndrome de Dubin-Johnson","synonyms":["Hyperbilirubinémie type 2","Maladie de Dubin-Sprinz","Syndrome de Sprinz-Nelson"],"definition":"Maladie métabolique hépatique rare se caractérisant sur le plan clinique par une hyperbilirubinémie bénigne, chronique et principalement conjuguée, et sur le plan histopathologique par un dépôt de pigment brun-noir dans les cellules parenchymateuses du foie."},"de":{"name":"Dubin-Johnson-Syndrom","synonyms":["Hyperbilirubinämie Typ 2"],"definition":"Das Dubin-Johnson-Syndrom (DJS) ist eine benigne, erbliche Funktionsstörung der Leber. Sie ist klinisch durch chronische, überwiegend konjugierte Hyperbilirubinämie und histologisch durch schwarz-braune Pigmentablagerungen in den Leber-Parenchymzellen gekennzeichnet."},"es":{"name":"Síndrome de Dubin-Johnson","definition":"El síndrome de Dubin-Johnson (SDJ) es una enfermedad hepática hereditaria benigna, caracterizada, desde el punto de vista clínico, por una hiperbilirrubinemia crónica predominantemente conjugada, y, desde el punto de vista histopatológico, por depósitos de pigmentos de color marrón-negruzco en las células parenquimales hepáticas."},"it":{"name":"Sindrome di Dubin-Johnson","synonyms":["Iperbilirubinemia, tipo 2"]},"nl":{"name":"Syndroom van Dubin-Johnson","synonyms":["Hyperbilirubinemie type 2","Syndroom van Sprinz-Nelson","Ziekte van Dubin-Sprinz"],"definition":"Een zeldzame metabole leverziekte, klinisch gekenmerkt door een goedaardige, chronische, overwegend geconjugeerde hyperbilirubinemie, en histopathologisch gekenmerkt door depositie van zwart-bruin pigment in parenchymale levercellen."},"pt":{"name":"Síndrome Dubin-Johnson","synonyms":["Hiperbilirrubinemia tipo 2"],"definition":"O síndrome de Dubin-Johnson (DJS) é uma patologia hepática hereditária, caracterizada clinicamente por hiperbilirrubinemia crónica predominantemente conjugada, e histopatologicamente por deposição de pigmento preto-acastanhado nos hepatócitos."},"pl":{"name":"Zespół Dubina i Johnsona","synonyms":["Choroba Dubina i Sprinza","Hiperbilirubinemia typu 2","Zespół Sprinza i Nelsona"]},"cs":{"name":"Dubinův-Johnsonův syndrom","synonyms":["Dubinova-Sprinzova nemoc","Hyperbilirubinémie, typ 2","Sprinzův-Nelsonův syndrom","Dubin-Johnsonův syndrom","Dubin-Sprinzova nemoc","Sprinz-Nelsonův syndrom"]},"uk":{"name":"Синдром Дубіна-Джонсона","synonyms":["Хвороба Дубіна-Шпрінца","Гіпербілірубінемія 2 типу","Синдром Шпрінца-Нельсона"],"definition":"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells."},"zh":{"name":"Dubin-Johnson综合征","synonyms":["2型高胆红素血症"]},"tr":{"name":"Dubin-Johnson sendromu","synonyms":["Dubin-Sprinz hastalığı","Sprinz-Nelson sendromu","Hiperbilirubinemi tip 2"]}},"xrefs":[{"source":"OMIM","code":"237500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1691610999"},{"source":"MONDO","code":"0009380","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007566","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022350","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2793","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013800","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":"ABCC2","name":"ATP binding cassette subfamily C member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"53","ensembl":"ENSG00000023839","omim":"601107","loci":["10q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012086","label":"Abnormal urinary color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001080","label":"Biliary tract abnormality","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:0004295","label":"Abnormality of the gastric mucosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}