ICP3
MCID: CHL142
MIFTS: 32

Cholestasis, Intrahepatic, of Pregnancy 3 (ICP3)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Rare 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 58 30 6 17 74
Icp3 58 12 76
Cholestasis, Intrahepatic, of Pregnancy, 3 58 13
Intrahepatic Cholestasis of Pregnancy 3 12 15
Cholestasis, Intrahepatic, of Pregnancy, Type 3 41
Cholestasis of Pregnancy, Intrahepatic 3 76
Pregnancy Related Cholestasis 3 12

Characteristics:

OMIM:

58
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:

33
cholestasis, intrahepatic, of pregnancy 3:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cholestasis, Intrahepatic, of Pregnancy 3

OMIM : 58 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 icp3, is related to gallbladder disease 1 and choledocholithiasis. An important gene associated with Cholestasis, Intrahepatic, of Pregnancy 3 is ABCB4 (ATP Binding Cassette Subfamily B Member 4), and among its related pathways/superpathways is p75(NTR)-mediated signaling. Affiliated tissues include liver, small intestine and testes, and related phenotypes are jaundice and pruritus

Disease Ontology : 12 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has material basis in mutation in the ABCB4 gene on chromosome 7q21.

UniProtKB/Swiss-Prot : 76 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 Intrahepatic Cholestasis of Pregnancy family:

Cholestasis, Intrahepatic, of Pregnancy, 1 Cholestasis, Intrahepatic, of Pregnancy 3

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 gallbladder disease 1 11.2
2 choledocholithiasis 9.8 ABCB4 ALB
3 autoimmune disease of urogenital tract 9.8 ABCB4 ALB
4 bile duct disease 9.8 ABCB4 ALB
5 cholecystitis 9.8 ABCB4 ALB
6 biliary tract disease 9.8 ABCB4 ALB
7 cholelithiasis 9.7 ABCB4 ALB
8 hepatitis a 9.7 ALB IKBKG
9 sclerosing cholangitis 9.7 ABCB4 ALB
10 cholangitis 9.7 ABCB4 ALB
11 cholangitis, primary sclerosing 9.6 ABCB4 ALB
12 liver disease 9.5 ABCB4 ALB

Graphical network of the top 20 diseases related to Cholestasis, Intrahepatic, of Pregnancy 3:



Diseases related to Cholestasis, Intrahepatic, of Pregnancy 3

Symptoms & Phenotypes for Cholestasis, Intrahepatic, of Pregnancy 3

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 jaundice 33 occasional (7.5%) HP:0000952
2 pruritus 33 HP:0000989
3 premature birth 33 HP:0001622
4 intrahepatic cholestasis 33 HP:0001406
5 fetal distress 33 HP:0025116
6 abnormal liver function tests during pregnancy 33 HP:0200148
7 increased serum bile acid concentration during pregnancy 33 HP:0200150

Symptoms via clinical synopsis from OMIM:

58
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

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

Clinical features from OMIM:

614972

MGI Mouse Phenotypes related to Cholestasis, Intrahepatic, of Pregnancy 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.56 ABCB4 ALB IKBKG RTN4
2 digestive/alimentary MP:0005381 9.33 ABCB4 ALB IKBKG
3 liver/biliary system MP:0005370 9.13 ABCB4 ALB IKBKG
4 neoplasm MP:0002006 8.8 ABCB4 ALB IKBKG

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 30 ABCB4

Anatomical Context for Cholestasis, Intrahepatic, of Pregnancy 3

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

42
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:

76
# 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 16)
# 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 Uncertain significance rs121918441 GRCh37 Chromosome 7, 87069077: 87069077
6 ABCB4 NM_018849.2(ABCB4): c.1637C> A (p.Ala546Asp) single nucleotide variant Uncertain significance rs121918441 GRCh38 Chromosome 7, 87439761: 87439761
7 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh37 Chromosome 7, 87076396: 87076396
8 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh38 Chromosome 7, 87447080: 87447080
9 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh37 Chromosome 7, 87072662: 87072663
10 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh38 Chromosome 7, 87443346: 87443347
11 ABCB4 NM_018849.2(ABCB4): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs72552780 GRCh37 Chromosome 7, 87082366: 87082366
12 ABCB4 NM_018849.2(ABCB4): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs72552780 GRCh38 Chromosome 7, 87453050: 87453050
13 ABCB4 NM_000443.3(ABCB4): c.1769G> A (p.Arg590Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45575636 GRCh37 Chromosome 7, 87060844: 87060844
14 ABCB4 NM_000443.3(ABCB4): c.1769G> A (p.Arg590Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45575636 GRCh38 Chromosome 7, 87431528: 87431528
15 ABCB4 NM_018849.2(ABCB4): c.2044delG (p.Asp682Metfs) deletion Pathogenic GRCh38 Chromosome 7, 87426770: 87426770
16 ABCB4 NM_018849.2(ABCB4): c.2044delG (p.Asp682Metfs) deletion Pathogenic GRCh37 Chromosome 7, 87056086: 87056086

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

Pathways related to Cholestasis, Intrahepatic, of Pregnancy 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.44 IKBKG RTN4

GO Terms for Cholestasis, Intrahepatic, of Pregnancy 3

Molecular functions related to Cholestasis, Intrahepatic, of Pregnancy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 IKBKG RTN4

Sources for Cholestasis, Intrahepatic, of Pregnancy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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