MCID: CHL142
MIFTS: 21

Cholestasis, Intrahepatic, of Pregnancy 3

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Cholestasis, Intrahepatic, of Pregnancy 3

MalaCards integrated aliases for Cholestasis, Intrahepatic, of Pregnancy 3:

Name: Cholestasis, Intrahepatic, of Pregnancy 3 57 29 6 73
Cholestasis, Intrahepatic, of Pregnancy, 3 57 13
Icp3 57 75
Cholestasis, Intrahepatic, of Pregnancy, Type 3 40
Cholestasis of Pregnancy, Intrahepatic 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (rare)

Miscellaneous:
occurs during pregnancy, most often in the third trimester
no chronic or permanent liver damage
oral contraceptives may also cause symptoms
see for patients with homozygous abcb4 mutations and unaffected heterozygous family members
patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment


HPO:

32
cholestasis, intrahepatic, of pregnancy 3:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cholestasis, Intrahepatic, of Pregnancy 3

OMIM : 57 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). (614972)

MalaCards based summary : Cholestasis, Intrahepatic, of Pregnancy 3, also known as cholestasis, intrahepatic, of pregnancy, 3, is related to gallbladder disease 1. An important gene associated with Cholestasis, Intrahepatic, of Pregnancy 3 is ABCB4 (ATP Binding Cassette Subfamily B Member 4). Affiliated tissues include liver, small intestine and testes, and related phenotypes are jaundice and pruritus

UniProtKB/Swiss-Prot : 75 Cholestasis of pregnancy, intrahepatic 3: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine.

Related Diseases for Cholestasis, Intrahepatic, of Pregnancy 3

Diseases in the Cholestasis, Intrahepatic, of Pregnancy 3 family:

Cholestasis, Intrahepatic, of Pregnancy, 1

Diseases related to Cholestasis, Intrahepatic, of Pregnancy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gallbladder disease 1 11.0

Symptoms & Phenotypes for Cholestasis, Intrahepatic, of Pregnancy 3

Symptoms via clinical synopsis from OMIM:

57
Prenatal Manifestations Delivery:
premature delivery
intrauterine fetal death

Laboratory Abnormalities:
abnormal liver function tests during pregnancy, resolves postpartum
increased serum bile acid concentration during pregnancy, resolves postpartum

Prenatal Manifestations Movement:
fetal distress

Abdomen Liver:
intrahepatic cholestasis during pregnancy, resolves postpartum
abnormal liver function tests during pregnancy, resolves postpartum
hepatic fibrosis seen on biopsy (in some patients)
ductal proliferation seen on biopsy (in some patients)

Skin Nails Hair Skin:
pruritus during pregnancy, resolves postpartum
jaundice (in some patients), resolves postpartum


Clinical features from OMIM:

614972

Human phenotypes related to Cholestasis, Intrahepatic, of Pregnancy 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 occasional (7.5%) HP:0000952
2 pruritus 32 HP:0000989
3 intrahepatic cholestasis 32 HP:0001406
4 premature birth 32 HP:0001622
5 fetal distress 32 HP:0025116
6 abnormal liver function tests during pregnancy 32 HP:0200148
7 increased serum bile acid concentration during pregnancy 32 HP:0200150

Drugs & Therapeutics for Cholestasis, Intrahepatic, of Pregnancy 3

Search Clinical Trials , NIH Clinical Center for Cholestasis, Intrahepatic, of Pregnancy 3

Genetic Tests for Cholestasis, Intrahepatic, of Pregnancy 3

Genetic tests related to Cholestasis, Intrahepatic, of Pregnancy 3:

# Genetic test Affiliating Genes
1 Cholestasis, Intrahepatic, of Pregnancy 3 29 ABCB4

Anatomical Context for Cholestasis, Intrahepatic, of Pregnancy 3

MalaCards organs/tissues related to Cholestasis, Intrahepatic, of Pregnancy 3:

41
Liver, Small Intestine, Testes

Publications for Cholestasis, Intrahepatic, of Pregnancy 3

Variations for Cholestasis, Intrahepatic, of Pregnancy 3

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Intrahepatic, of Pregnancy 3:

75
# Symbol AA change Variation ID SNP ID
1 ABCB4 p.Ala546Asp VAR_023503 rs121918441
2 ABCB4 p.Arg150Lys VAR_043081 rs757693457
3 ABCB4 p.Gly762Glu VAR_043099

ClinVar genetic disease variations for Cholestasis, Intrahepatic, of Pregnancy 3:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB4 NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter) single nucleotide variant Pathogenic rs121918440 GRCh37 Chromosome 7, 87041264: 87041264
2 ABCB4 NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter) single nucleotide variant Pathogenic rs121918440 GRCh38 Chromosome 7, 87411948: 87411948
3 ABCB4 NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs) deletion Pathogenic rs387906527 GRCh37 Chromosome 7, 87069002: 87069002
4 ABCB4 NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs) deletion Pathogenic rs387906527 GRCh38 Chromosome 7, 87439686: 87439686
5 ABCB4 NM_018849.2(ABCB4): c.1637C> A (p.Ala546Asp) single nucleotide variant Pathogenic rs121918441 GRCh37 Chromosome 7, 87069077: 87069077
6 ABCB4 NM_018849.2(ABCB4): c.1637C> A (p.Ala546Asp) single nucleotide variant Pathogenic rs121918441 GRCh38 Chromosome 7, 87439761: 87439761
7 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh37 Chromosome 7, 87072662: 87072663
8 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh38 Chromosome 7, 87443346: 87443347
9 ABCB4 NM_018849.2(ABCB4): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs72552780 GRCh37 Chromosome 7, 87082366: 87082366
10 ABCB4 NM_018849.2(ABCB4): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs72552780 GRCh38 Chromosome 7, 87453050: 87453050
11 ABCB4 NM_018849.2(ABCB4): c.3081+1G> C single nucleotide variant Pathogenic rs750829010 GRCh37 Chromosome 7, 87038551: 87038551
12 ABCB4 NM_018849.2(ABCB4): c.3081+1G> C single nucleotide variant Pathogenic rs750829010 GRCh38 Chromosome 7, 87409235: 87409235

Expression for Cholestasis, Intrahepatic, of Pregnancy 3

Search GEO for disease gene expression data for Cholestasis, Intrahepatic, of Pregnancy 3.

Pathways for Cholestasis, Intrahepatic, of Pregnancy 3

GO Terms for Cholestasis, Intrahepatic, of Pregnancy 3

Sources for Cholestasis, Intrahepatic, of Pregnancy 3

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