{"orpha":65682,"name":"Benign recurrent intrahepatic cholestasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BRIC","Summerskill-Walshe-Tygstrup syndrome"],"definition":"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65682/","orphanet_url":"https://www.orpha.net/en/disease/detail/65682","names":{"fr":{"name":"Cholestase intrahépatique récurrente bénigne","synonyms":["Syndrome de Summerskill-Walshe-Tygstrup"],"definition":"La cholestase intrahépatique récurrente bénigne (BRIC) est une maladie hépatique héréditaire caractérisée par des épisodes intermittents de cholestase intrahépatique, généralement sans progression vers une atteinte hépatique chronique. La BRIC appartient à un spectre clinique de troubles de cholestase intrahépatique qui va d'attaques intermittentes modérées vues dans la BRIC, à la cholestase progressive et chronique sévère observée dans la cholestase intrahépatique familiale progressive (PFIC)."},"de":{"name":"Cholestase, benigne intrahepatische, rekurrente","synonyms":["BRIC","Summerskill-Walshe-Tygstrup Syndrom"],"definition":"Die Benigne rekurrente intrahepatische Cholestase (BRIC), eine erbliche Leberstörung, ist gekennzeichnet durch intermittierende Episoden intrahepatischer Cholestase, im Allgemeinen ohne Progression zu chronischem Leberschaden. Man nimmt an, dass die BRIC zu einem klinischen Spektrum intrahepatischer cholestatischer Störungen gehört, das von den bei BRIC beobachteten milden intermittierenden Episoden bis hin zu schwerer, chronischer und progredienter Cholestase reicht, wie man sie bei der Progressiven familiären intrahepatischen Cholestase (PFIC; siehe dort) beobachtet."},"es":{"name":"Colestasis intrahepática recurrente benigna","synonyms":["CIBR","CIRB","Síndrome de Summerskill-Walshe-Tygstrup"],"definition":"La colestasis intrahepática recurrente benigna (BRIC) es un trastorno hepático hereditario caracterizado por episodios intermitentes de colestasis intrahepática, generalmente sin progresión a daño hepático crónico. En la actualidad se considera que BRIC pertenece al espectro clínico de los trastornos colestásicos intrahepáticos que varían desde los ataques intermitentes leves en la propia BRIC, a la colestasis grave, crónica y progresiva observada en la colestasis intrahepática familiar progresiva (PFIC)."},"it":{"name":"Colestasi intraepatica ricorrente benigna","synonyms":["BRIC","Sindrome di Summerskill-Walshe-Tygstrup"],"definition":"La colestasi intraepatica ricorrente benigna (BRIC) è una malattia epatica ereditaria caratterizzata da episodi intermittenti di colestasi intraepatica, di solito senza un'evoluzione verso un danno epatico cronico. Si ritiene che faccia parte di uno spettro clinico di disturbi colestatici intraepatici, che varia dagli attacchi intermittenti lievi nella BRIC alla colestasi grave, cronica e progressiva della colestasi intraepatica familiare progressiva (PFIC)."},"nl":{"name":"Goedaardige recidiverende intrahepatische cholestase","synonyms":["BRIC","Syndroom van Summerskill-Walshe-Tygstrup"],"definition":"Goedaardige terugkerende intrahepatische cholestase (BRIC) is een erfelijke leveraandoening die gekenmerkt wordt door periodieke episodes van intrahepatische cholestase, in het algemeen zonder evolutie tot chronische leverschade. Men is nu van mening dat BRIC deel uitmaakt van een klinisch spectrum van intrahepatische cholestase aandoeningen dat varieert van de milde, periodieke aanvallen bij BRIC tot de ernstige, chronische en progressieve cholestase die voorkomt bij progressieve familiale intrahepatische cholestase (PFIC, zie deze term)."},"pt":{"name":"Colestase intra-hepática recorrente benigna","synonyms":["CIRB","Síndrome de Summerskill-Walshe-Tygstrup"]},"pl":{"name":"Łagodna nawracająca cholestaza wewnątrzwątrobowa","synonyms":["BRIC","Zespół Summerskilla, Walshe'a i Tygstrupa"]},"cs":{"name":"Benigní rekurentní intrahepatální cholestáza","synonyms":["BRIC","Summerskillův-Walsheho-Tygstrupův syndrom","Summerskill-Walshe-Tygstrupův syndrom"]},"uk":{"name":"Доброякісний рецидивуючий внутрішньопечінковий холестаз","synonyms":["BRIC","Синдром Саммерскілла-Уолша-Тігструпа"],"definition":"Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)."},"zh":{"name":"良性复发性肝内胆汁淤积","synonyms":["Summerskill-Walshe-Tygstrup综合征"]},"tr":{"name":"Selim tekrarlayan intrahepatik kolestaz","synonyms":["BRIC","Summerskill-Walshe-Tygstrup sendromu"]}},"xrefs":[{"source":"OMIM","code":"243300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605479","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"K83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.04","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"288945286"},{"source":"MONDO","code":"0019008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0149841","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087038","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":284385,"name":"Familial intrahepatic cholestasis","classifications":[156,183]}],"children":[{"orpha":99960,"name":"Benign recurrent intrahepatic cholestasis type 1","type":"Clinical subtype"},{"orpha":99961,"name":"Benign recurrent intrahepatic cholestasis type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ABCB11","name":"ATP binding cassette subfamily B member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"42","ensembl":"ENSG00000073734","omim":"603201","loci":["2q31.1"],"via":{"orpha":99961,"name":"Benign recurrent intrahepatic cholestasis type 2"}},{"symbol":"ATP8B1","name":"ATPase phospholipid transporting 8B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3706","ensembl":"ENSG00000081923","omim":"602397","loci":["18q21.31"],"via":{"orpha":99960,"name":"Benign recurrent intrahepatic cholestasis type 1"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"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:0011985","label":"Acholic stools","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null}]}}