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GTR Home > Conditions/Phenotypes > Cholestasis, intrahepatic, of pregnancy, 3

Cholestasis, intrahepatic, of pregnancy, 3

Summary

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). [from OMIM]

Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3, ABCB4
    Summary: ATP binding cassette subfamily B member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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