Disease #03801 (ICP3 (cholestasis, intrahepatic, of pregnancy, type 3 (ICP-3)), OMIM:614972)

Official abbreviation ICP3
Name cholestasis, intrahepatic, of pregnancy, type 3 (ICP-3)
OMIM ID 614972
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene ABCB4
Associated tissues -
Disease features autosomal recessive, autosomal dominant
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00054854 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999 4 heterozygous carrier females F no France - - - - - ICP3 at least one typical episode of intrahepatic cholestasis of pregnancy (pruritus, abnormal serum liver tests with cholestatic pattern third trimester) resulting in fetal deaths in 3 women and spontaneous and progressive disappearance of cholestasis after delivery ABCB4 ABCB4 1 4 Johan den Dunnen
00054855 - PubMed: Dixon 2000, Journal: Dixon 2000 affected female F no United Kingdom (Great Britain) - - - - - ICP3 2 live births, 2 lost pregnancies; pruritus started 15w, fetal distress (meconium staining amniotic fluid or fetal heart rate abnormality); delivery 35w6d; max. levels ALT 163 U/l (<28), yGT 50 (<30), U/l BA 237 mM (<6) ABCB4 ABCB4 1 1 Johan den Dunnen
00181082 Pat1 PubMed: Huynh 2019 - F no - - - - - endoscopic biliary sphincterotomy, ursodeoxycholic acid treatment ICP3 ICP, endoscopic sphincterotomy, disturbance of liver function, intense pruritus, itching, ursodeoxycholic acid treatment ABCB4 ABCB4 1 1 Minh Tuan Huynh
00181083 Pat2 PubMed: Huynh 2019 - F no - - - - - biliary sphincterotomy, cholecystectomy, ursodeoxycholic acid treatment ICP3 ICP of 24 weeks of gestation, intense pruritus at night (trunk and lower limbs), elevated AST, ALT), bile acids of 50µmol/L. Mother had history of intrahepatic cholestasis of pregnancy. Intrahepatic microlithiasis on imaging, ursodeoxycholic acid treatment ABCB4 ABCB4 1 1 Minh Tuan Huynh
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