Preferred Label : Cholestasis, intrahepatic, of pregnancy 3;
Symbol : ICP3;
CISMeF acronym : ICP3;
Type : Phenotype, molecular basis known;
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. Women with ICP are also susceptible
to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an
effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et
al., 2012). Mutation in the ABCB4 gene accounts for about 15% of ICP cases (summary
by Ziol et al., 2008). For a discussion of genetic heterogeneity of ICP, see ICP1
(147480).;
Inheritance : Autosomal dominant; Autosomal recessive (rare);
Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4,
171060.0002);
Laboratory abnormalities : Abnormal liver function tests during pregnancy, resolves postpartum; Increased serum bile acid concentration during pregnancy, resolves postpartum;
Prefixed ID : #614972;
Origin ID : 614972;
UMLS CUI : C3554241;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
