ICP1
MCID: CHL116
MIFTS: 46

Cholestasis, Intrahepatic, of Pregnancy, 1 (ICP1)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Cholestasis, Intrahepatic, of Pregnancy, 1

MalaCards integrated aliases for Cholestasis, Intrahepatic, of Pregnancy, 1:

Name: Cholestasis, Intrahepatic, of Pregnancy, 1 58 13 74
Icp1 58 12 76
Intrahepatic Cholestasis of Pregnancy 1 12 15
Recurrent Intrahepatic Cholestasis of Pregnancy 76
Cholestasis, Intrahepatic, of Pregnancy, Type 1 41
Cholestasis of Pregnancy, Intrahepatic 1 76
Cholestasis, Pregnancy-Related, 1 58
Pregnancy Related Cholestasis 1 12
Pregnancy-Related Cholestasis 76
Cholestasis, Intrahepatic 45
Cholestasis of Pregnancy 74
Obstetric Cholestasis 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
occurs during pregnancy, most often in the third trimester
no chronic or permanent liver damage
oral contraceptives may also cause symptoms


HPO:

33
cholestasis, intrahepatic, of pregnancy, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cholestasis, Intrahepatic, of Pregnancy, 1

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. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). (147480)

MalaCards based summary : Cholestasis, Intrahepatic, of Pregnancy, 1, also known as icp1, is related to cholestasis, benign recurrent intrahepatic, 2 and cholestasis, progressive familial intrahepatic, 4, and has symptoms including pruritus of pregnancy An important gene associated with Cholestasis, Intrahepatic, of Pregnancy, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Synthesis of bile acids and bile salts and Hepatic ABC Transporters. Affiliated tissues include liver, small intestine and testes, and related phenotypes are pruritus and elevated hepatic transaminase

Disease Ontology : 12 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has material basis in mutation in the ATP8B1 gene on chromosome 18q21.

UniProtKB/Swiss-Prot : 76 Cholestasis of pregnancy, intrahepatic 1: 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. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery.

Related Diseases for Cholestasis, Intrahepatic, of Pregnancy, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 32.2 ABCB11 ATP8B1
2 cholestasis, progressive familial intrahepatic, 4 32.0 ABCB11 ABCB4 ATP8B1
3 cholestasis, benign recurrent intrahepatic, 1 31.9 ABCB11 ATP8B1 SLC10A2
4 cholestasis, progressive familial intrahepatic, 2 31.8 ABCB11 ABCB4 ATP8B1 NR1H4
5 cholestasis, progressive familial intrahepatic, 3 31.5 ABCB11 ABCB4 ATP8B1 JAG1
6 progressive familial intrahepatic cholestasis 31.0 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2
7 cholestasis, progressive familial intrahepatic, 1 30.8 ABCB11 ABCB4 ATP8B1 JAG1 NR1H4 SLC10A2
8 intrahepatic cholestasis of pregnancy 30.5 ABCB11 ABCB4 ABCC2 ATP8B1 INCENP JAG1
9 extrahepatic cholestasis 30.1 ABCB4 ABCC2
10 choledocholithiasis 29.8 ABCB4 SLC17A5
11 cholestasis 29.0 ABCB11 ABCB4 ABCC2 ATP8B1 JAG1 NR1H4
12 bile acid synthesis defect, congenital, 4 11.4
13 cholestasis, progressive familial intrahepatic, 5 11.3
14 arthrogryposis, renal dysfunction, and cholestasis 1 11.3
15 cholestasis, intrahepatic, of pregnancy 3 11.1
16 atp8b1 deficiency 10.1 ABCB11 ATP8B1 NR1H4
17 cholelithiasis 10.0 ABCB4 NR1H4
18 sclerosing cholangitis 10.0 ABCB11 ABCB4 NR1H4
19 hepatitis 9.9
20 viral hepatitis 9.9
21 kidney disease 9.9
22 polycystic kidney disease 9.9
23 diabetes mellitus 9.9
24 gestational diabetes 9.9
25 bilirubin metabolic disorder 9.8 ABCC2 SLC17A5
26 obstructive jaundice 9.8 SLC17A5 SLC25A13
27 alagille syndrome 1 9.7 ABCB11 ABCB4 ATP8B1 JAG1
28 hepatic encephalopathy 9.6 SLC17A5 SLC25A13
29 biliary atresia 9.6 ATP8B1 JAG1 NR1H4 SLC10A2
30 bile duct disease 9.2 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2
31 liver disease 9.2 ABCB11 ABCB4 ATP8B1 NR1H4 SLC17A5 SLC25A13
32 biliary tract disease 9.2 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2

Graphical network of the top 20 diseases related to Cholestasis, Intrahepatic, of Pregnancy, 1:



Diseases related to Cholestasis, Intrahepatic, of Pregnancy, 1

Symptoms & Phenotypes for Cholestasis, Intrahepatic, of Pregnancy, 1

Human phenotypes related to Cholestasis, Intrahepatic, of Pregnancy, 1:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pruritus 33 HP:0000989
2 elevated hepatic transaminase 33 HP:0002910
3 jaundice 33 HP:0000952
4 premature birth 33 HP:0001622
5 intrahepatic cholestasis 33 HP:0001406
6 fetal distress 33 HP:0025116
7 abnormal liver function tests during pregnancy 33 HP:0200148
8 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), resolved 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:

147480

UMLS symptoms related to Cholestasis, Intrahepatic, of Pregnancy, 1:


pruritus of pregnancy

GenomeRNAi Phenotypes related to Cholestasis, Intrahepatic, of Pregnancy, 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 9.13 ABCC2 INCENP TLK1
2 Decreased vaccinia virus (VACV-LREV ) gene expression GR00351-A-2 8.62 ATP8B1 JAG1

MGI Mouse Phenotypes related to Cholestasis, Intrahepatic, of Pregnancy, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 ABCB11 ABCB4 ATP8B1 JAG1 NR1H4 SLC10A2
2 homeostasis/metabolism MP:0005376 9.61 ABCB11 ABCB4 ABCC2 ATP8B1 JAG1 NR1H4
3 hearing/vestibular/ear MP:0005377 9.46 ATP8B1 JAG1 SLC17A5 SLC25A13
4 liver/biliary system MP:0005370 9.23 ABCB11 ABCB4 ABCC2 ATP8B1 JAG1 NR1H4

Drugs & Therapeutics for Cholestasis, Intrahepatic, of Pregnancy, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Integrated Care Pathway for Youth Depression Recruiting NCT03428555 Not Applicable
2 Classification and Comparison of Early-onset and Late-onset Idiopathic Chronic Pancreatitis Active, not recruiting NCT03953937

Search NIH Clinical Center for Cholestasis, Intrahepatic, of Pregnancy, 1

Cochrane evidence based reviews: cholestasis, intrahepatic

Genetic Tests for Cholestasis, Intrahepatic, of Pregnancy, 1

Anatomical Context for Cholestasis, Intrahepatic, of Pregnancy, 1

MalaCards organs/tissues related to Cholestasis, Intrahepatic, of Pregnancy, 1:

42
Liver, Small Intestine, Testes, Kidney

Publications for Cholestasis, Intrahepatic, of Pregnancy, 1

Articles related to Cholestasis, Intrahepatic, of Pregnancy, 1:

(show all 12)
# Title Authors Year
1
Severe First Trimester Recurrent Intrahepatic Cholestasis of Pregnancy: A Case Report and Literature Review. ( 26929868 )
2016
2
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]. ( 18188816 )
2008
3
Recurrent intrahepatic cholestasis of pregnancy: ursodeoxycholic acid should be the first line of treatment. ( 19104716 )
2008
4
Recurrent intrahepatic cholestasis of pregnancy. A case report. ( 18836627 )
2008
5
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. ( 15888793 )
2005
6
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. ( 15239083 )
2004
7
Analysis of the UL36 open reading frame encoding the large tegument protein (ICP1/2) of herpes simplex virus type 1. ( 1331541 )
1992
8
Characterization of the large tegument protein (ICP1/2) of herpes simplex virus type 1. ( 1326803 )
1992
9
Recurrent intrahepatic cholestasis of pregnancy. ( 3473670 )
1987
10
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. ( 6852450 )
1983
11
Recurrent intrahepatic cholestasis of pregnancy. Report of six cases, and review of the literature. ( 6043995 )
1967
12
RECURRENT INTRAHEPATIC CHOLESTASIS OF PREGNANCY: OBSERVATIONS ON PATHOGENESIS. ( 14326722 )
1965

Variations for Cholestasis, Intrahepatic, of Pregnancy, 1

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Intrahepatic, of Pregnancy, 1:

76
# Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Asn45Thr VAR_043044 rs146599962
2 ATP8B1 p.Lys203Glu VAR_043047 rs56355310
3 ATP8B1 p.Arg867Cys VAR_043072 rs121909103

ClinVar genetic disease variations for Cholestasis, Intrahepatic, of Pregnancy, 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP8B1 NM_005603.4(ATP8B1): c.2599C> T (p.Arg867Cys) single nucleotide variant Pathogenic rs121909103 GRCh38 Chromosome 18, 57661282: 57661282
2 ATP8B1 NM_005603.4(ATP8B1): c.2599C> T (p.Arg867Cys) single nucleotide variant Pathogenic rs121909103 GRCh37 Chromosome 18, 55328514: 55328514
3 ATP8B1 NM_005603.6(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh38 Chromosome 18, 57706561: 57706561
4 ATP8B1 NM_005603.6(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh37 Chromosome 18, 55373793: 55373793
5 ATP8B1 NM_005603.6(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh38 Chromosome 18, 57662617: 57662617
6 ATP8B1 NM_005603.6(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh37 Chromosome 18, 55329849: 55329849
7 ATP8B1 NM_005603.6(ATP8B1): c.1981A> G (p.Ile661Val) single nucleotide variant Uncertain significance rs1555689790 GRCh38 Chromosome 18, 57669434: 57669434
8 ATP8B1 NM_005603.6(ATP8B1): c.1981A> G (p.Ile661Val) single nucleotide variant Uncertain significance rs1555689790 GRCh37 Chromosome 18, 55336666: 55336666
9 ABCB11 NM_003742.4(ABCB11): c.3148C> T (p.Arg1050Cys) single nucleotide variant Pathogenic rs72549398 GRCh38 Chromosome 2, 168932442: 168932442
10 ABCB11 NM_003742.4(ABCB11): c.3148C> T (p.Arg1050Cys) single nucleotide variant Pathogenic rs72549398 GRCh37 Chromosome 2, 169788952: 169788952
11 ATP8B1 NM_005603.6(ATP8B1): c.2546G> A (p.Arg849Gln) single nucleotide variant Uncertain significance rs144656719 GRCh38 Chromosome 18, 57661335: 57661335
12 ATP8B1 NM_005603.6(ATP8B1): c.2546G> A (p.Arg849Gln) single nucleotide variant Uncertain significance rs144656719 GRCh37 Chromosome 18, 55328567: 55328567

Expression for Cholestasis, Intrahepatic, of Pregnancy, 1

Search GEO for disease gene expression data for Cholestasis, Intrahepatic, of Pregnancy, 1.

Pathways for Cholestasis, Intrahepatic, of Pregnancy, 1

GO Terms for Cholestasis, Intrahepatic, of Pregnancy, 1

Cellular components related to Cholestasis, Intrahepatic, of Pregnancy, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.56 ABCB11 ABCB4 ABCC2 ATP8B1 JAG1 SLC10A2
2 apical plasma membrane GO:0016324 9.55 ABCB4 ABCC2 ATP8B1 JAG1 SLC10A2
3 brush border membrane GO:0031526 9.26 ABCC2 ATP8B1
4 intercellular canaliculus GO:0046581 8.8 ABCB11 ABCB4 ABCC2

Biological processes related to Cholestasis, Intrahepatic, of Pregnancy, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.43 ABCB11 ABCB4 ABCC2 SLC10A2 SLC17A5 SLC25A13
2 lipid homeostasis GO:0055088 9.4 ABCB4 NR1H4
3 phospholipid translocation GO:0045332 9.37 ABCB4 ATP8B1
4 bile acid metabolic process GO:0008206 9.32 ATP8B1 NR1H4
5 canalicular bile acid transport GO:0015722 9.26 ABCB11 ABCC2
6 drug transmembrane transport GO:0006855 9.16 ABCC2 ATP8B1
7 bile acid and bile salt transport GO:0015721 8.92 NR1H4 ATP8B1 ABCB11 SLC10A2

Molecular functions related to Cholestasis, Intrahepatic, of Pregnancy, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.55 ABCB11 ABCB4 ABCC2 ATP8B1 TLK1
2 ATPase activity GO:0016887 9.13 ABCB11 ABCB4 ABCC2
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.8 ABCB11 ABCB4 ABCC2

Sources for Cholestasis, Intrahepatic, of Pregnancy, 1

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