Cholestasis, Intrahepatic, Of Pregnancy, 1; Icp1

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 PregnancySee also ICP3 (OMIM ), caused by mutation in the ABCB4 gene (OMIM ).

Clinical Features

Phenotypes and symptoms related to Cholestasis, Intrahepatic, Of Pregnancy, 1; Icp1

  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Pruritus
  • Premature birth
  • Cholestasis
  • Intrahepatic cholestasis
  • Fetal distress
  • Abnormal liver function tests during pregnancy
  • Increased serum bile acid concentration during pregnancy

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cholestasis, Intrahepatic, Of Pregnancy, 1; Icp1 Is also known as cholestasis, pregnancy-related, 1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cholestasis, Intrahepatic, Of Pregnancy, 1; Icp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP8B1
Specificity
100 %
Genes
100 %
ATP8B1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP8B1
Specificity
100 %
Genes
100 %
ATP8B1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP8B1
Specificity
100 %
Genes
100 %
ATP8B1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ATP8B1
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Cholestasis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC25A13, ATP8B1, AKR1D1, ABCB4, JAG1
Specificity
20 %
Genes
100 %
ATP8B1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ATP8B1
Specificity
100 %
Genes
100 %
ATP8B1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ATP8B1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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