ICP
MCID: INT099
MIFTS: 62

Intrahepatic Cholestasis of Pregnancy (ICP)

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

Aliases & Classifications for Intrahepatic Cholestasis of Pregnancy

MalaCards integrated aliases for Intrahepatic Cholestasis of Pregnancy:

Name: Intrahepatic Cholestasis of Pregnancy 12 20 43 58 36 44 15 17
Recurrent Intrahepatic Cholestasis of Pregnancy 12 20 43 58
Gravidic Intrahepatic Cholestasis 12 20 58
Pregnancy-Related Cholestasis 20 43 58
Cholestasis, Intrahepatic of Pregnancy 20 6
Pregnancy Related Cholestasis 12 20
Icp 12 20
Familial Recurrent Intrahepatic Cholestasis of Pregnancy 20
Familial Intrahepatic Cholestasis of Pregnancy 20
Obstetric Cholestasis 43
Ricp 20

Characteristics:

Orphanet epidemiological data:

58
intrahepatic cholestasis of pregnancy
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare gynaecological and obstetric diseases


Summaries for Intrahepatic Cholestasis of Pregnancy

MedlinePlus Genetics : 43 Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies.This condition causes severe itchiness (pruritus) in the expectant mother. The itchiness usually begins on the palms of the hands and the soles of the feet and then spreads to other parts of the body. Occasionally, affected women have yellowing of the skin and whites of the eyes (jaundice). Some studies have shown that women with intrahepatic cholestasis of pregnancy are more likely to develop gallstones sometime in their life than women who do not have the condition.Intrahepatic cholestasis of pregnancy can cause problems for the unborn baby. This condition is associated with an increased risk of premature delivery and stillbirth. Additionally, some infants born to mothers with intrahepatic cholestasis of pregnancy have a slow heart rate and a lack of oxygen during delivery (fetal distress).

MalaCards based summary : Intrahepatic Cholestasis of Pregnancy, also known as recurrent intrahepatic cholestasis of pregnancy, is related to cholestasis, intrahepatic, of pregnancy, 1 and cholestasis, progressive familial intrahepatic, 1. An important gene associated with Intrahepatic Cholestasis of Pregnancy is ABCB4 (ATP Binding Cassette Subfamily B Member 4), and among its related pathways/superpathways are Bile secretion and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Metformin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and pancreas, and related phenotypes are increased serum bile acid concentration and elevated hepatic transaminase

Disease Ontology : 12 An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.

GARD : 20 Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include severe itching (pruritus). Occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice). ICP is additionally associated with risks to the developing baby such as premature delivery and stillbirth. The cause of ICP is largely unknown, although approximately 15% of cases are caused by mutations in either the ABCB11 or ABCB4 genes. Mutations within the ABCB11 and ABCB4 genes are inherited in an autosomal dominant manner. Symptoms of ICP are typically limited to pregnancy. Bile flow returns to normal after delivery and the signs and symptoms of the condition disappear, however, they can return during later pregnancies.

KEGG : 36 Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes the palms and soles, and biochemical evidence of elevated bile acids, with or without elevated liver function tests (LFTs). The etiology of ICP is influenced by a combination of genetic, endocrine, and environmental factors. Risk factors for ICP include multiple pregnancy, in vitro fertilization, advanced maternal age, history of prior affected pregnancy, positive family history, and hepatitis C infection.

Wikipedia : 74 Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, cholestasis of... more...

Related Diseases for Intrahepatic Cholestasis of Pregnancy

Diseases in the Intrahepatic Cholestasis of Pregnancy family:

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

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

(show top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 cholestasis, intrahepatic, of pregnancy, 1 33.2 NR1I3 NR1I2 NR1H4 ATP8B1 ABCC2 ABCB4
2 cholestasis, progressive familial intrahepatic, 1 32.4 SLCO1B3 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
3 cholestasis 31.8 SLCO1B1 SLC4A2 NR1I3 NR1I2 NR1H4 GPT
4 atp8b1 deficiency 31.4 NR1H4 ATP8B1 ABCB11
5 exanthem 31.2 TNF GPT CYP3A4
6 cholelithiasis 31.0 SLCO1A2 NR1H4 GPT ABCB4
7 hepatitis a 31.0 TNF GPT CYP3A4
8 familial intrahepatic cholestasis 30.9 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC2 ABCB4
9 acalculous cholecystitis 30.7 GPT ABCB4
10 cholangitis 30.6 TNF NR1I2 NR1H4 GPT GPBAR1 ABCB4
11 progressive familial intrahepatic cholestasis 30.6 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC3 ABCC2
12 cholecystolithiasis 30.6 GPT ABCB4
13 dubin-johnson syndrome 30.6 SLCO1B3 SLCO1B1 SLCO1A2 ATP8B1 ABCC3 ABCC2
14 cholestasis, benign recurrent intrahepatic, 1 30.6 SLCO1B1 SLCO1A2 NR1I2 NR1H4 ATP8B1 ABCC3
15 liver disease 30.5 TNF NR1I2 NR1H4 GPT CYP3A4 ATP8B1
16 diarrhea 30.4 TNF GPT CYP3A4 ABCC2 ABCB1
17 cholestasis, progressive familial intrahepatic, 3 30.4 SLCO1B3 NR1H4 ATP8B1 ABCC3 ABCC2 ABCB4
18 neonatal jaundice 30.3 TNF SLCO1B1 NR1I3
19 wilson disease 30.1 TNF GPT ABCC2
20 bilirubin metabolic disorder 30.1 SLCO1B3 SLCO1B1 SLCO1A2 NR1I3 GPT CYP3A4
21 primary biliary cholangitis 29.6 SLCO1B1 SLC4A2 NR1I3 NR1I2 NR1H4 GPT
22 body mass index quantitative trait locus 11 29.5 UCN TNF NR1I3 NR1H4 GPT GPBAR1
23 cholestasis, intrahepatic, of pregnancy 3 11.8
24 gallbladder disease 1 11.3
25 pre-eclampsia 10.7
26 intracranial hypertension 10.6
27 gestational diabetes 10.6
28 hydrocephalus 10.6
29 head injury 10.6
30 traumatic brain injury 10.6
31 eclampsia 10.5
32 parenteral nutrition-associated cholestasis 10.5 GPT ABCB4
33 pericholangitis 10.5 ABCB4 ABCB11
34 viral hepatitis 10.5
35 common bile duct disease 10.5 GPT ABCB4 ABCB11
36 suppurative cholangitis 10.4 GPT ABCB4
37 alagille syndrome 1 10.4 ATP8B1 ABCB4 ABCB11
38 autosomal dominant non-syndromic intellectual disability 3 10.4 ABCB4 ABCB11
39 critical illness polyneuropathy 10.4 TNF GPT
40 bile duct cysts 10.4 GPT ATP8B1 ABCB4 ABCB11
41 cerebrotendinous xanthomatosis 10.4 NR1I2 NR1H4 CYP3A4
42 heart defects, congenital, and other congenital anomalies 10.4 NR1H4 GPBAR1 ABCB11
43 choline deficiency disease 10.4 NR1H4 GPT GPBAR1
44 smith-fineman-myers syndrome 10.4
45 gastrointestinal tuberculosis 10.4 TNF GPT
46 nasopharyngitis 10.4 TNF GPT CYP3A4
47 gallbladder disease 10.4 NR1H4 GPT ABCB4 ABCB11
48 granulomatous hepatitis 10.4 TNF GPT
49 hepatic vascular disease 10.4 TNF NR1H4 GPT ABCB4
50 bronchiectasis 3 10.4 SLCO1B3 CYP3A4

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



Diseases related to Intrahepatic Cholestasis of Pregnancy

Symptoms & Phenotypes for Intrahepatic Cholestasis of Pregnancy

Human phenotypes related to Intrahepatic Cholestasis of Pregnancy:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased serum bile acid concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012202
2 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
3 insomnia 58 31 frequent (33%) Frequent (79-30%) HP:0100785
4 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
5 neonatal respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002643
6 hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002904
7 preeclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100602
8 elevated alkaline phosphatase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003155
9 abnormal serum interleukin level 58 31 occasional (7.5%) Occasional (29-5%) HP:0030782
10 abnormal pineal melatonin secretion 58 31 occasional (7.5%) Occasional (29-5%) HP:0012689
11 meconium stained amniotic fluid 58 31 occasional (7.5%) Occasional (29-5%) HP:0012420
12 pruritus on foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0030900
13 palmar pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0031248
14 tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0001337
15 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
16 ascites 58 31 very rare (1%) Very rare (<4-1%) HP:0001541
17 jaundice 58 31 very rare (1%) Very rare (<4-1%) HP:0000952
18 abdominal pain 58 31 very rare (1%) Very rare (<4-1%) HP:0002027
19 premature birth 58 31 very rare (1%) Very rare (<4-1%) HP:0001622
20 cholecystitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001082
21 abnormality of the pancreas 58 31 very rare (1%) Very rare (<4-1%) HP:0001732
22 small for gestational age 58 31 very rare (1%) Very rare (<4-1%) HP:0001518
23 asterixis 58 31 very rare (1%) Very rare (<4-1%) HP:0012164
24 autoimmunity 58 Excluded (0%)
25 skin rash 58 Excluded (0%)
26 pruritus 58 Very frequent (99-80%)
27 abnormality of the digestive system 58 Frequent (79-30%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.75 NR1I2 NR1I3
2 Decreased viability GR00221-A-2 9.75 NR1H4 NR1I2 NR1I3
3 Decreased viability GR00221-A-4 9.75 NR1H4
4 Decreased viability GR00249-S 9.75 ABCB1 ABCC3 NR1H4 NR1I3 SLC4A2 SLCO1B3
5 Decreased viability GR00301-A 9.75 NR1I2 NR1I3
6 Decreased viability GR00381-A-1 9.75 ABCC2 SLCO1A2
7 Decreased viability GR00381-A-2 9.75 ABCC2
8 Decreased viability GR00381-A-3 9.75 ABCC2 SLCO1A2
9 Decreased viability GR00386-A-1 9.75 NR1I3 SLCO1A2 SLCO1B1
10 Decreased viability GR00402-S-2 9.75 ABCB1 ABCC3 GPT TNF

MGI Mouse Phenotypes related to Intrahepatic Cholestasis of Pregnancy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ABCB1 ABCB11 ABCB4 ABCC2 ABCC3 ATP8B1
2 liver/biliary system MP:0005370 9.73 ABCB1 ABCB11 ABCB4 ABCC2 ABCC3 ATP8B1
3 reproductive system MP:0005389 9.28 ABCB1 ABCB4 ATP8B1 ERP29 GPBAR1 NR1I2

Drugs & Therapeutics for Intrahepatic Cholestasis of Pregnancy

Drugs for Intrahepatic Cholestasis of Pregnancy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
2
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
3 Hypoglycemic Agents Phase 2, Phase 3
4 Volixibat Experimental, Investigational Phase 2 1025216-57-2
5 Liver Extracts Phase 2
6 Lipid Regulating Agents Phase 2
7 Bile Acids and Salts Phase 2
8 Estrogens
9 Hormones

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 METformin in Intrahepatic Cholestasis of Pregnancy (METRIC) Study Unknown status NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
2 Randomised Placebo-controlled Study of Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
3 Intrahepatic Cholestasis Of Pregnancy: Clinical Impact Of Ursodeoxycholic Acid Treatment Withdrawn NCT01226823 Phase 3 Ursodeoxycholic Acid;Placebo
4 A Phase 2a/2b Randomized Double-Blind Placebo-Controlled Study to Evaluate the Efficacy and Safety of Volixibat in Adult Women With Intrahepatic Cholestasis of Pregnancy and Elevated Serum Bile Acid Concentrations (OHANA). Recruiting NCT04718961 Phase 2 Volixibat;Placebo
5 to Investigate the Maternal Serum IL-17 Levels in Pregnant Women With Intrahepatic Cholestasis of Pregnancy Unknown status NCT01898832
6 P-wave Duration and Dispersion in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01906827
7 Diagnostic Accuracy of Serum Autotaxin Levels in Cholestasis of Pregnancy Unknown status NCT02480478
8 Apoptosis May Have a Role in Etiopathogenesis of Obstetric Cholestasis. Unknown status NCT02192177
9 Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group. Completed NCT00700232
10 A Longitudinal Study of Alterations in Metabolic Markers and Gut Hormones in Pregnant and Non-pregnant Patients With Intrahepatic Cholestasis of Pregnancy, Gestational Diabetes Mellitus and Normal Pregnant and Non-pregnant Controls Completed NCT01499524
11 Induction of Labor in Intrahepatic Cholestasis of Pregnancy Completed NCT01381939
12 Investigation of the Effect of Elevated Serum Bile Acids in Intrahepatic Cholestasis of Pregnancy (ICP) on the Fetal Cardiac Rhythm and on Myometrial Contractility: a Prospective Case-control Pilot Study Recruiting NCT03519399
13 Genetic Polymorphisms of ABCB11 and ABCB4 in Women With Intrahepatic Cholestasis of Pregnancy (ICP) and in Their First Degree Relatives Recruiting NCT04281082 ursofalk
14 The Use of Fish Oil Supplementation in Treatment of Intrahepatic Cholestasis of Pregnancy Withdrawn NCT01965054

Search NIH Clinical Center for Intrahepatic Cholestasis of Pregnancy

Cochrane evidence based reviews: intrahepatic cholestasis of pregnancy

Genetic Tests for Intrahepatic Cholestasis of Pregnancy

Anatomical Context for Intrahepatic Cholestasis of Pregnancy

MalaCards organs/tissues related to Intrahepatic Cholestasis of Pregnancy:

40
Liver, Placenta, Pancreas, Pineal, Heart, Skin, Endothelial

Publications for Intrahepatic Cholestasis of Pregnancy

Articles related to Intrahepatic Cholestasis of Pregnancy:

(show top 50) (show all 1018)
# Title Authors PMID Year
1
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. 6 61
19584064 2009
2
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 6 61
15888793 2005
3
Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. 6 61
10767346 2000
4
Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. 6 61
9923886 1999
5
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. 6
18482588 2008
6
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 6
15239083 2004
7
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 6
11313316 2001
8
Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. 6
8666348 1996
9
Intrahepatic cholestasis of pregnancy: An under recognised complication of maternal NAFLD? 61
33317844 2021
10
Reply to: "Intrahepatic cholestasis of pregnancy: An under recognised complication of maternal NAFLD?" 61
33339610 2021
11
ENDOCRINOLOGY IN PREGNANCY: Metabolic impact of bile acids in gestation. 61
33434155 2021
12
Pregnancy complicated by refractory severe hypercholanaemia from sodium taurocholate co-transporting polypeptide deficiency. 61
33174277 2021
13
Maternal age at first cesarean delivery related to adverse pregnancy outcomes in a second cesarean delivery: a multicenter, historical, cross-sectional cohort study. 61
33579220 2021
14
Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study. 61
33546617 2021
15
Use of data-independent acquisition mass spectrometry for comparative proteomics analyses of sera from pregnant women with intrahepatic cholestasis of pregnancy. 61
33545297 2021
16
Society for Maternal-Fetal Medicine Consult Series #53: Intrahepatic cholestasis of pregnancy: Replaces Consult #13, April 2011. 61
33197417 2021
17
Differentiated timing of induction for women with intrahepatic cholestasis of pregnancy-A historical cohort study. 61
32970824 2021
18
Re-evaluating diagnostic thresholds for intrahepatic cholestasis of pregnancy: case-control and cohort study. 61
33586324 2021
19
The Impact of Assisted Reproductive Technology in Twin Pregnancies Complicated by Intrahepatic Cholestasis of Pregnancy: a Retrospective Cohort Study. 61
32198731 2021
20
Intrahepatic cholestasis of pregnancy: machine-learning algorithm to predict elevated bile acid based on clinical and laboratory data. 61
33608801 2021
21
Intrahepatic cholestasis of pregnancy associated with azathioprine: a case series. 61
33601075 2021
22
Relationship between pruritus and autotaxin in intrahepatic cholestasis of pregnancy. 61
33010963 2021
23
Expression and Regulation of Aquaporins in Pregnancy Complications and Reproductive Dysfunctions. 61
33226842 2021
24
The Recurrent Liver Disorder of a Pregnant Mother: Intrahepatic Cholestasis of Pregnancy - A Case Report and Literature Review. 61
33603498 2021
25
A multi-centre, open label, randomised, parallel-group, superiority Trial to compare the efficacy of URsodeoxycholic acid with RIFampicin in the management of women with severe early onset Intrahepatic Cholestasis of pregnancy: the TURRIFIC randomised trial. 61
33435904 2021
26
Ursodeoxycholic acid improves pregnancy outcome in patients with intrahepatic cholestasis during pregnancy: A protocol for systematic review and meta-analysis. 61
33530164 2021
27
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies. 61
33466755 2021
28
Patients with IVF complicated by moderate-to-critical OHSS experience increased thrombosis, GDM and neonatal NICU admission but slightly shorter gestation compared with matched IVF counterparts: A retrospective Chinese cohort study. 61
33441149 2021
29
Pregnancy outcomes of Chinese women undergoing IVF with embryonic cryopreservation as compared to natural conception. 61
33422044 2021
30
Association between IVF/ICSI treatment and preterm birth and major perinatal outcomes among dichorionic-diamnionic twin pregnancies: A seven-year retrospective cohort study. 61
32865233 2021
31
Rodent models of cholestatic liver disease: a practical guide for translational research. 61
33486884 2021
32
Analysis of risk factors for obstetric outcomes after hysteroscopic adhesiolysis for Asherman's syndrome: A retrospective cohort study. 61
33483955 2021
33
Nuclear receptors, gestational metabolism and maternal metabolic disorders. 61
33455843 2021
34
Impact of maternal infection with hepatitis B virus on pregnancy complications and neonatal outcomes for women undergoing assisted reproductive technology treatment: A population-based study. 61
33452707 2021
35
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1. 61
33070363 2020
36
Fetal cardiac dysfunction in intrahepatic cholestasis of pregnancy is associated with elevated serum bile acid concentrations. 61
33276032 2020
37
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed. 61
33390354 2020
38
Detection of additional abnormalities or co-morbidities in women with suspected intrahepatic cholestasis of pregnancy. 61
33343695 2020
39
Association Between Complete Blood Count Components and Intrahepatic Cholestasis of Pregnancy. 61
33532148 2020
40
Assessment of Mechanical Fetal PR Interval in Intrahepatic Cholestasis of Pregnancy and Its Relationship with the Severity of the Disease. 61
31430816 2020
41
Intrahepatic cholestasis of pregnancy is associated with an increased risk of gestational diabetes and preeclampsia. 61
33437773 2020
42
Characterization of gut microbiota associated with clinical parameters in intrahepatic cholestasis of pregnancy. 61
33225888 2020
43
Association of adverse outcomes of intrahepatic cholestasis of pregnancy with zonulin levels. 61
33228404 2020
44
Outcomes of Pregnant Women With Cirrhosis and Their Infants in a Population-Based Study. 61
32781083 2020
45
ROC Curve Analysis of the Sensitivity and Specificity of Biochemical Detection of Intrahepatic Cholestasis during Pregnancy. 61
33246351 2020
46
The effects, underlying mechanism and interactions of dexamethasone exposure during pregnancy on maternal bile acid metabolism. 61
32599024 2020
47
Association between low fetal fraction of cell free DNA at the early second-trimester and adverse pregnancy outcomes. 61
32777709 2020
48
Vaginal progesterone treatment for the prevention of preterm birth and intrahepatic cholestasis of pregnancy: A case-control study. 61
32866855 2020
49
Oral herbal medicine for women with intrahepatic cholestasis in pregnancy: a systematic review of randomized controlled trials. 61
33028282 2020
50
Health outcomes of 1000 children born to mothers with inflammatory bowel disease in their first 5 years of life. 61
33046558 2020

Variations for Intrahepatic Cholestasis of Pregnancy

ClinVar genetic disease variations for Intrahepatic Cholestasis of Pregnancy:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP8B1 NM_005603.6(ATP8B1):c.2599C>T (p.Arg867Cys) SNV Pathogenic 7272 rs121909103 18:55328514-55328514 18:57661282-57661282
2 ABCB4 NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) SNV Pathogenic 13687 rs121918440 7:87041264-87041264 7:87411948-87411948
3 ABCB4 NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) SNV Pathogenic 13690 rs72552778 7:87076396-87076396 7:87447080-87447080
4 ABCB4 NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) SNV Pathogenic 13689 rs121918441 7:87069077-87069077 7:87439761-87439761
5 ABCB4 NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) SNV Pathogenic 13696 rs72552780 7:87082366-87082366 7:87453050-87453050
6 ABCB4 NM_000443.4(ABCB4):c.2044del (p.Asp682fs) Deletion Pathogenic 617459 rs1562965036 7:87056086-87056086 7:87426770-87426770
7 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) SNV Pathogenic 6590 rs11568372 2:169847329-169847329 2:168990819-168990819
8 ABCB4 NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) Duplication Pathogenic 812984 rs753104429 7:87074281-87074282 7:87444965-87444966
9 ABCB11 NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp) SNV Pathogenic 812747 rs199649780 2:169781263-169781263 2:168924753-168924753
10 ABCB4 NM_000443.4(ABCB4):c.2683-883_2783+345del Deletion Pathogenic 812921 7:87042588-87043916 7:87413272-87414600
11 ABCB4 NM_000443.4(ABCB4):c.1712del (p.Val571fs) Deletion Pathogenic 13688 rs387906527 7:87069002-87069002 7:87439686-87439686
12 ABCB4 NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) Indel Pathogenic 13693 rs387906528 7:87072662-87072663 7:87443346-87443347
13 ABCB11 NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) SNV Likely pathogenic 290081 rs188824058 2:169828535-169828535 2:168972025-168972025
14 ABCB11 NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) SNV Likely pathogenic 595557 rs201240844 2:169814626-169814626 2:168958116-168958116
15 ATP8B1 NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) SNV Likely pathogenic 804427 rs1057524081 18:55334358-55334358 18:57667126-57667126
16 ABCB11 NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu) SNV Likely pathogenic 812746 rs778992761 2:169781255-169781255 2:168924745-168924745
17 ABCB4 NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) SNV Likely pathogenic 812975 rs1584665400 7:87032549-87032549 7:87403233-87403233
18 ABCB4 NM_000443.4(ABCB4):c.3486+1G>A SNV Likely pathogenic 501724 rs764513998 7:87035603-87035603 7:87406287-87406287
19 ABCB4 NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) Duplication Likely pathogenic 812976 rs1584671714 7:87035655-87035656 7:87406339-87406340
20 ABCB4 NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) SNV Likely pathogenic 195854 rs754565782 7:87037402-87037402 7:87408086-87408086
21 ABCB4 NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met) SNV Likely pathogenic 812977 rs1187517509 7:87037408-87037408 7:87408092-87408092
22 ABCB4 NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) SNV Likely pathogenic 587488 rs759202962 7:87037496-87037496 7:87408180-87408180
23 ABCB4 NM_000443.4(ABCB4):c.2880_2881AT[1] (p.Tyr961fs) Microsatellite Likely pathogenic 812978 rs1584684209 7:87041250-87041251 7:87411934-87411935
24 ABCB4 NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) SNV Likely pathogenic 812979 rs533310204 7:87046754-87046754 7:87417438-87417438
25 ABCB4 NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) SNV Likely pathogenic 812980 rs1037196284 7:87060812-87060812 7:87431496-87431496
26 ABCB4 NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) SNV Likely pathogenic 812981 rs571555115 7:87060835-87060835 7:87431519-87431519
27 ABCB4 NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) SNV Likely pathogenic 291252 rs375315619 7:87069546-87069546 7:87440230-87440230
28 ABCB4 NM_000443.4(ABCB4):c.1357-2A>C SNV Likely pathogenic 812982 rs1584742063 7:87069720-87069720 7:87440404-87440404
29 ABCB4 NM_000443.4(ABCB4):c.1119+1G>T SNV Likely pathogenic 812983 rs1584750660 7:87074177-87074177 7:87444861-87444861
30 ABCB11 NM_003742.4(ABCB11):c.2075+2T>C SNV Likely pathogenic 812748 rs1574445178 2:169824935-169824935 2:168968425-168968425
31 ABCB11 NM_003742.4(ABCB11):c.2012-8T>G SNV Likely pathogenic 284637 rs769910565 2:169825008-169825008 2:168968498-168968498
32 ABCB11 NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) SNV Likely pathogenic 596905 rs11568370 2:169826590-169826590 2:168970080-168970080
33 ABCB11 NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly) SNV Likely pathogenic 291278 rs886044710 2:169826595-169826595 2:168970085-168970085
34 ABCB11 NM_003742.4(ABCB11):c.1623C>G (p.Ile541Met) SNV Likely pathogenic 812749 rs764296800 2:169828372-169828372 2:168971862-168971862
35 ABCB4 NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) SNV Likely pathogenic 812750 rs1584754706 7:87076450-87076450 7:87447134-87447134
36 ABCB4 NM_000443.4(ABCB4):c.893del (p.Asn298fs) Deletion Likely pathogenic 812751 rs1584754766 7:87076462-87076462 7:87447146-87447146
37 ABCB4 NM_000443.4(ABCB4):c.834-1G>A SNV Likely pathogenic 812752 rs752563752 7:87076522-87076522 7:87447206-87447206
38 ABCB4 NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) Deletion Likely pathogenic 812753 rs1584763429 7:87080995-87080995 7:87451679-87451679
39 ABCB4 NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) SNV Likely pathogenic 596680 rs377160065 7:87082321-87082321 7:87453005-87453005
40 ABCB4 NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) SNV Likely pathogenic 812754 rs757693457 7:87082347-87082347 7:87453031-87453031
41 ABCB4 NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) SNV Conflicting interpretations of pathogenicity 13697 rs45575636 7:87060844-87060844 7:87431528-87431528
42 ABCB4 NM_000443.4(ABCB4):c.-18G>T SNV Uncertain significance 360805 rs886062461 7:87104961-87104961 7:87475645-87475645
43 ABCB4 NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) SNV Uncertain significance 360791 rs561612231 7:87035805-87035805 7:87406489-87406489
44 ABCB4 NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) SNV Uncertain significance 360793 rs545534537 7:87046775-87046775 7:87417459-87417459
45 ABCB4 NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) SNV Uncertain significance 360795 rs747255117 7:87056075-87056075 7:87426759-87426759
46 ABCB4 NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) SNV Uncertain significance 360796 rs776616540 7:87056083-87056083 7:87426767-87426767
47 ATP8B1 NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) SNV Uncertain significance 7271 rs34719006 18:55373793-55373793 18:57706561-57706561
48 ATP8B1 NM_005603.6(ATP8B1):c.2546G>A (p.Arg849Gln) SNV Uncertain significance 383293 rs144656719 18:55328567-55328567 18:57661335-57661335
49 ATP8B1 NM_005603.6(ATP8B1):c.1981A>G (p.Ile661Val) SNV Uncertain significance 498425 rs1555689790 18:55336666-55336666 18:57669434-57669434
50 ABCB4 NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) SNV Uncertain significance 374521 rs8187788 7:87092143-87092143 7:87462827-87462827

Expression for Intrahepatic Cholestasis of Pregnancy

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

Pathways for Intrahepatic Cholestasis of Pregnancy

Pathways related to Intrahepatic Cholestasis of Pregnancy according to KEGG:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 ATP8B1 ABCC3
2 12.43 CYP3A4 ABCC3 ABCC2 ABCB1
3
Show member pathways
12.28 SLCO1B3 SLCO1B1 SLCO1A2 NR1H4 ABCC3 ABCB11
4
Show member pathways
12.07 SLCO1B1 SLCO1A2 ABCC2 ABCB4 ABCB11 ABCB1
5
Show member pathways
12.06 SLCO1B1 ABCC3 ABCC2 ABCB1
6
Show member pathways
11.98 SLCO1B3 SLCO1B1 SLCO1A2 CYP3A4 ABCC3 ABCC2
7
Show member pathways
11.76 SLCO1B3 SLCO1B1 SLCO1A2 CYP3A4 ABCC3 ABCC2
8
Show member pathways
11.75 NR1I3 NR1I2 NR1H4
9
Show member pathways
11.74 NR1I3 NR1I2 CYP3A4 ABCC2 ABCB1
10
Show member pathways
11.69 CYP3A4 ABCC3 ABCC2
12
Show member pathways
11.65 SLCO1B1 CYP3A4 ABCC2 ABCB1
13
Show member pathways
11.62 SLCO1B3 NR1I2 CYP3A4 ABCC2 ABCB1
14 11.45 SLCO1B3 SLCO1B1 CYP3A4 ABCB1
15
Show member pathways
11.41 SLCO1B3 SLCO1B1 NR1I3 NR1I2 CYP3A4 ABCB1
16 11.36 NR1I3 CYP3A4 ABCC3 ABCC2 ABCB1
17 11.35 NR1I3 NR1I2 NR1H4 CYP3A4 ABCC3 ABCC2
18 11.32 SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 NR1H4 CYP3A4
19 11.27 TNF ABCC3 ABCC2
20 11.13 NR1H4 CYP3A4 ABCB4 ABCB11
21
Show member pathways
11.03 SLCO1B3 SLCO1B1 SLCO1A2 ABCC3 ABCC2 ABCB1
22 11.02 ABCC3 ABCC2 ABCB1
23 11.01 NR1I3 NR1I2 ABCC3 ABCC2 ABCB1
24 11 NR1I2 CYP3A4 ABCC3 ABCB1
25 10.84 SLCO1B1 NR1I3 NR1I2 NR1H4 CYP3A4 ABCC3
26 10.81 CYP3A4 ABCB1
27
Show member pathways
10.81 SLCO1A2 ABCB1
28 10.78 CYP3A4 ABCC3 ABCC2 ABCB1
29 10.77 TNF NR1H4

GO Terms for Intrahepatic Cholestasis of Pregnancy

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 TNF SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 GPBAR1
2 integral component of membrane GO:0016021 10.17 TNF SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 GPBAR1
3 cell surface GO:0009986 9.83 TNF ERP29 ABCC2 ABCB11 ABCB1
4 integral component of plasma membrane GO:0005887 9.81 TNF SLCO1B3 SLCO1B1 SLCO1A2 ATP8B1 ABCC3
5 basolateral plasma membrane GO:0016323 9.71 SLCO1B3 SLCO1B1 SLC4A2 ABCB11
6 apical plasma membrane GO:0016324 9.43 SLC4A2 ATP8B1 ABCC2 ABCB4 ABCB11 ABCB1
7 intracellular canaliculus GO:0046691 9.26 ABCC2 ABCB11
8 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 ABCC3 ABCC2
2 negative regulation of gene expression GO:0010629 9.88 UCN TNF ERP29 ABCC2
3 intracellular receptor signaling pathway GO:0030522 9.71 NR1I3 NR1I2 NR1H4
4 xenobiotic transport GO:0042908 9.65 NR1I2 ABCC3 ABCB11
5 phospholipid translocation GO:0045332 9.63 ATP8B1 ABCB4 ABCB1
6 sodium-independent organic anion transport GO:0043252 9.61 SLCO1B3 SLCO1B1 SLCO1A2
7 bile acid signaling pathway GO:0038183 9.58 NR1H4 ABCC2
8 bile acid metabolic process GO:0008206 9.58 NR1H4 ATP8B1 ABCB11
9 transepithelial transport GO:0070633 9.57 ABCC2 ABCB1
10 leukotriene transport GO:0071716 9.56 ABCC3 ABCC2
11 drug transport across blood-brain barrier GO:1990962 9.55 ABCC2 ABCB1
12 cellular response to bile acid GO:1903413 9.54 NR1H4 GPBAR1 ABCB4
13 regulation of chloride transport GO:2001225 9.52 ATP8B1 ABCB1
14 ceramide translocation GO:0099040 9.51 ABCB4 ABCB1
15 canalicular bile acid transport GO:0015722 9.5 ABCC3 ABCC2 ABCB11
16 drug export GO:0046618 9.49 ABCC2 ABCB11
17 drug transmembrane transport GO:0006855 9.46 ATP8B1 ABCC3 ABCC2 ABCB11
18 organic anion transport GO:0015711 9.35 SLCO1B3 SLCO1B1 SLCO1A2 ATP8B1 ABCC2
19 bile acid and bile salt transport GO:0015721 9.23 SLCO1B3 SLCO1B1 SLCO1A2 NR1H4 ATP8B1 ABCC3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.85 ABCC3 ABCC2 ABCB4 ABCB11 ABCB1
2 nuclear receptor activity GO:0004879 9.7 NR1I3 NR1I2 NR1H4
3 xenobiotic transmembrane transporter activity GO:0042910 9.67 ABCC3 ABCC2 ABCB4 ABCB1
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.65 ABCC3 ABCC2 ABCB4 ABCB11 ABCB1
5 organic anion transmembrane transporter activity GO:0008514 9.62 SLCO1B3 SLCO1A2 ABCC3 ABCC2
6 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.58 SLCO1B3 SLCO1B1 SLCO1A2
7 phosphatidylethanolamine-translocating ATPase activity GO:0090555 9.54 ABCB4 ABCB1
8 phosphatidylcholine-translocating ATPase activity GO:0090554 9.51 ABCB4 ABCB1
9 transmembrane transporter activity GO:0022857 9.5 SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 ABCC3 ABCC2
10 ceramide-translocating ATPase activity GO:0099038 9.49 ABCB4 ABCB1
11 bile acid-exporting ATPase activity GO:0015432 9.48 ABCC3 ABCB11
12 bile acid transmembrane transporter activity GO:0015125 9.46 SLCO1B3 SLCO1B1 SLCO1A2 ABCB11
13 bile acid receptor activity GO:0038181 9.43 NR1H4 GPBAR1
14 xenobiotic transmembrane transporting ATPase activity GO:0008559 8.92 ABCC3 ABCC2 ABCB11 ABCB1

Sources for Intrahepatic Cholestasis of Pregnancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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