{"orpha":69665,"name":"Intrahepatic cholestasis of pregnancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gravidic intrahepatic cholestasis","Pregnancy-related cholestasis","Recurrent intrahepatic cholestasis of pregnancy"],"definition":"Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69665/","orphanet_url":"https://www.orpha.net/en/disease/detail/69665","names":{"fr":{"name":"Cholestase intrahépatique gestationnelle","synonyms":["Cholestase de la grossesse","Cholestase gravidique intrahépatique","Cholestase intrahépatique gestationnelle récidivante"],"definition":"La cholestase intrahépatique gestationnelle (CIG) est une affection cholestatique caractérisée par (i) un prurit débutant dans le second ou troisième trimestre de la grossesse, (ii) des taux d'aminotransférases sériques et d'acides biliaires élevés, et (iii) une diminution spontanée des signes et symptômes dans les deux à trois semaines suivant l'accouchement."},"de":{"name":"Schwangerschaftscholestase, intrahepatische","synonyms":["Cholestase, schwangerschaftsbedingte","Schwangerschaftscholestase, intrahepatische rekurrente"],"definition":"Die Intrahepatische Schwangerschaftscholestase (ICP) ist eine Störung des Galleflusses, gekennzeichnet durch (i) Pruritus mit Beginn im 2. oder 3. Trimenon der Schwangerschaft, (ii) erhöhte Serumwerte der Transaminasen und Gallensäuren und (iii) spontane Regression der Zeichen und Symptome innerhalb von 2-3 Wochen nach der Entbindung."},"es":{"name":"Colestasis intrahepática gestacional","synonyms":["Colestasis asociada al embarazo","Colestasis intrahepática gravídica","Colestasis intrahepática recurrente del embarazo"],"definition":"Es un trastorno colestásico caracterizado por (i) prurito de inicio en el segundo o tercer trimestre del embarazo, (ii) niveles elevados de aminotransferasas séricas y ácidos biliares, y (iii) alivio espontáneo de los signos y síntomas dentro de las dos o tres semanas posparto."},"it":{"name":"Colestasi intraepatica della gravidanza","synonyms":["Colestasi associata alla gravidanza","Colestasi intraepatica gravidica","Colestasi intraepatica ricorrente della gravidanza"]},"nl":{"name":"Intrahepatische zwangerschapscholestase","synonyms":["Terugkerende intrahepatische zwangerschapscholestase","Zwangerschapscholestase"],"definition":"Intrahepatische zwangerschapscholestase (ICP) is een cholestatische aandoening, gekenmerkt door (i) pruritus met aanvang in het tweede of derde trimester van de zwangerschap, (ii) verhoogde gehaltes van aminotransferasen en galzuur in serum, en (iii) spontane verlichting van verschijnselen en symptomen binnen twee tot drie weken na de bevalling."},"pt":{"name":"Colestase intra-hepática da gravidez","synonyms":["Colestase intra-hepática recorrente da gravidez","Colestase relacionada com a gravidez"],"definition":"A colestase intra-hepática gestacional (CIHG) é uma doença colestática caracterizada por (i) prurido com apresentação no segundo ou terceiro trimestre da gravidez, (ii) níveis séricos elevados de aminotransferases, e (iii) alívio espontâneo dos sinais e sintomas dentro de duas semanas após o parto."},"pl":{"name":"Cholestaza wewnątrzwątrobowa ciężarnych","synonyms":["Cholestaza wewnątrzwątrobowa ciężarnych","Cholestaza związana z ciążą","Nawracająca cholestaza wewnątrzwątrobowa ciężarnych"]},"cs":{"name":"Intrahepatální cholestáza v těhotenství","synonyms":["Intrahepatální těhotenská cholestáza","Těhotenská cholestáza","Rekurentní intrahepatální cholestáza v těhotenství"]},"uk":{"name":"Внутрішньопечінковий холестаз вагітних","synonyms":["Гравітаційний внутрішньопечінковий холестаз","Холестаз, повязаний з вагітністю","Рецидивуючий внутрішньопечінковий холестаз вагітності"],"definition":"Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery."},"zh":{"name":"妊娠肝内胆汁淤积症","synonyms":["妊娠复发性肝内胆汁淤积"]},"tr":{"name":"İntrahepatik gebelik kolestazı","synonyms":["Gebelik-ilişkili kolestaz","Gravidik intrahepatik kolestaz","Tekrarlayan intrahepatik gebelik kolestazı"]}},"xrefs":[{"source":"OMIM","code":"147480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614972","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"O26.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"JA65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1576251337"},{"source":"MONDO","code":"0100429","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268318","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"NR1H4","name":"nuclear receptor subfamily 1 group H member 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23142591[PMID]","hgnc":"7967","ensembl":"ENSG00000012504","omim":"603826","loci":["12q23.1"]},{"symbol":"ABCB11","name":"ATP binding cassette subfamily B member 11","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23022423[PMID]","hgnc":"42","ensembl":"ENSG00000073734","omim":"603201","loci":["2q31.1"]},{"symbol":"ABCB4","name":"ATP binding cassette subfamily B member 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23022423[PMID]","hgnc":"45","ensembl":"ENSG00000005471","omim":"171060","loci":["7q21.12"]},{"symbol":"ATP8B1","name":"ATPase phospholipid transporting 8B1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15888793[PMID]","hgnc":"3706","ensembl":"ENSG00000081923","omim":"602397","loci":["18q21.31"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_22892336[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-26","source":"32034507[PMID]_32942322[PMID]_31355915[PMID]_29480924[PMID]","terms":[{"hpo":"HP:0012202","label":"Increased serum bile acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025031","label":"Abnormality of the digestive system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012689","label":"Abnormal pineal melatonin secretion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012420","label":"Meconium stained amniotic fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031248","label":"Palmar pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030900","label":"Pruritus on foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012164","label":"Asterixis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Excluded (0%)","criteria":null}]}}