Preferred Label : Cholestasis, intrahepatic, of pregnancy, 1;
Symbol : ICP1;
CISMeF acronym : ICP1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cholestasis, pregnancy-related, 1;
Description : Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs
most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent
pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and
abnormal liver enzymes, all of which resolve rapidly after delivery. However, the
condition is associated with fetal complications, including placental insufficiency,
premature labor, fetal distress, and intrauterine death. Some women with ICP may also
be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant
et al., 2012). - Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy See
also ICP3 (614972), caused by mutation in the ABCB4 gene (171060).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, 602397.0010);
Laboratory abnormalities : Abnormal liver function tests during pregnancy, resolves postpartum; Increased serum bile acid concentration during pregnancy, resolves postpartum;
Prefixed ID : #147480;
Origin ID : 147480;
UMLS CUI : C3549845;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
