ICP
MCID: INT099
MIFTS: 61

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 brain, 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 : 73 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 330)
# Related Disease Score Top Affiliating Genes
1 cholestasis, intrahepatic, of pregnancy, 1 33.1 NR1I3 NR1I2 NR1H4 LOC100505549 ATP8B1 ABCC2
2 cholestasis, progressive familial intrahepatic, 1 32.3 SLCO1B3 NR1H4 LOC100505549 ATP8B1 ABCC2 ABCB4
3 cholestasis 31.9 SLCO1B1 SLC4A2 NR1I3 NR1I2 NR1H4 LOC100505549
4 atp8b1 deficiency 31.4 NR1H4 ATP8B1 ABCB11
5 exanthem 31.2 TNF GPT CYP3A4
6 cholelithiasis 31.1 SLCO1A2 NR1H4 GPT ABCB4
7 hepatitis a 31.0 TNF GPT CYP3A4
8 familial intrahepatic cholestasis 30.9 SLCO1B3 SLCO1B1 NR1H4 LOC100505549 ATP8B1 ABCC2
9 liver disease 30.8 TNF NR1I2 NR1H4 GPT CYP3A4 ATP8B1
10 cholangitis 30.7 TNF NR1I2 NR1H4 GPT GPBAR1 ABCB4
11 dubin-johnson syndrome 30.7 SLCO1B3 SLCO1B1 SLCO1A2 ATP8B1 ABCC3 ABCC2
12 cholecystolithiasis 30.6 GPT ABCB4
13 progressive familial intrahepatic cholestasis 30.6 SLCO1B3 SLCO1B1 NR1H4 LOC100505549 ATP8B1 ABCC3
14 diarrhea 30.5 TNF GPT CYP3A4 ABCC2 ABCB1
15 cholestasis, progressive familial intrahepatic, 3 30.4 SLCO1B3 NR1H4 ATP8B1 ABCC3 ABCC2 ABCB4
16 wilson disease 30.4 TNF GPT ABCC2
17 neonatal jaundice 30.3 TNF SLCO1B1 NR1I3
18 cholestasis, benign recurrent intrahepatic, 1 30.3 SLCO1B3 SLCO1B1 SLCO1A2 NR1I2 NR1H4 LOC100505549
19 bilirubin metabolic disorder 29.8 TNF SLCO1B3 SLCO1B1 SLCO1A2 NR1I3 NR1I2
20 body mass index quantitative trait locus 11 29.8 TNF NR1I3 NR1H4 GPT GPBAR1 ENPP2
21 primary biliary cholangitis 29.7 SLCO1B1 SLC4A2 NR1I3 NR1I2 NR1H4 GPT
22 cholestasis, intrahepatic, of pregnancy 3 11.8
23 gallbladder disease 1 11.3
24 pre-eclampsia 10.7
25 gestational diabetes 10.6
26 intracranial hypertension 10.6
27 hydrocephalus 10.6
28 head injury 10.6
29 traumatic brain injury 10.6
30 parenteral nutrition-associated cholestasis 10.5 GPT ABCB4
31 eclampsia 10.5
32 pericholangitis 10.5 ABCB4 ABCB11
33 common bile duct disease 10.5 GPT ABCB4 ABCB11
34 alagille syndrome 1 10.5 ATP8B1 ABCB4 ABCB11
35 viral hepatitis 10.5
36 bile duct cysts 10.5 GPT ATP8B1 ABCB4 ABCB11
37 sitosterolemia 10.5 ATP8B1 ABCC2 ABCB4 ABCB11
38 suppurative cholangitis 10.5 GPT ABCB4
39 cerebrotendinous xanthomatosis 10.4 NR1I2 NR1H4 CYP3A4
40 critical illness polyneuropathy 10.4 TNF GPT
41 gallbladder disease 10.4 NR1H4 GPT ABCB4 ABCB11
42 heart defects, congenital, and other congenital anomalies 10.4 NR1H4 GPBAR1 ABCB11
43 hepatic vascular disease 10.4 TNF NR1H4 GPT ABCB4
44 nasopharyngitis 10.4 TNF GPT CYP3A4
45 choline deficiency disease 10.4 NR1H4 GPT GPBAR1
46 cholestasis, progressive familial intrahepatic, 4 10.4 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
47 cholestasis, benign recurrent intrahepatic, 2 10.4 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
48 autosomal dominant non-syndromic intellectual disability 3 10.4 ABCB4 ABCB11
49 smith-fineman-myers syndrome 10.4
50 biliary atresia 10.4 NR1H4 GPT ATP8B1 ABCB4 ABCB11

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%)

MGI Mouse Phenotypes related to Intrahepatic Cholestasis of Pregnancy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 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 Bile Acids and Salts Phase 2
7 Lipid Regulating Agents 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 Diagnostic Accuracy of Serum Autotaxin Levels in Cholestasis of Pregnancy Unknown status NCT02480478
6 to Investigate the Maternal Serum IL-17 Levels in Pregnant Women With Intrahepatic Cholestasis of Pregnancy Unknown status NCT01898832
7 P-wave Duration and Dispersion in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01906827
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 Genetic Polymorphisms of ABCB11 and ABCB4 in Women With Intrahepatic Cholestasis of Pregnancy (ICP) and in Their First Degree Relatives Recruiting NCT04281082 ursofalk
13 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
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, Brain, Heart, Pancreas, Pineal, Bone

Publications for Intrahepatic Cholestasis of Pregnancy

Articles related to Intrahepatic Cholestasis of Pregnancy:

(show top 50) (show all 1030)
# Title Authors PMID Year
1
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. 61 6
23533021 2013
2
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population. 61 6
23022423 2013
3
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 6 61
20422496 2010
4
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. 6 61
19584064 2009
5
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 6 61
15888793 2005
6
Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. 6 61
10767346 2000
7
Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. 61 6
9923886 1999
8
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
9
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing. 6
28776642 2018
10
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. 6
26474921 2016
11
Large-scale whole-genome sequencing of the Icelandic population. 6
25807286 2015
12
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. 6
18482588 2008
13
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 6
15239083 2004
14
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 6
11313316 2001
15
Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. 6
8666348 1996
16
Rodent models of cholestatic liver disease: A practical guide for translational research. 61
33486884 2021
17
Intrahepatic cholestasis of pregnancy associated with azathioprine: A case series. 61
33601075 2021
18
Role of ursodeoxycholic acid on maternal serum bile acids and perinatal outcomes in intrahepatic cholestasis of pregnancy. 61
33136720 2021
19
Post-partum Primary Biliary Cholangitis Preceded by Intrahepatic Cholestasis of Pregnancy in Three First Nation Patients. 61
32440749 2021
20
Nuclear receptors, gestational metabolism and maternal metabolic disorders. 61
33455843 2021
21
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
22
ENDOCRINOLOGY IN PREGNANCY: Metabolic impact of bile acids in gestation. 61
33434155 2021
23
Burden of Future Liver Abnormalities in Patients With Intrahepatic Cholestasis of Pregnancy. 61
33657042 2021
24
Intrahepatic cholestasis of pregnancy: association with glycaemic control in gestational diabetes. 61
33786869 2021
25
Use of data-independent acquisition mass spectrometry for comparative proteomics analyses of sera from pregnant women with intrahepatic cholestasis of pregnancy. 61
33545297 2021
26
Reply to: "Intrahepatic cholestasis of pregnancy: An under recognised complication of maternal NAFLD?" 61
33339610 2021
27
Intrahepatic cholestasis of pregnancy: An under recognised complication of maternal NAFLD? 61
33317844 2021
28
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed. 61
33390354 2021
29
Differentiated timing of induction for women with intrahepatic cholestasis of pregnancy-A historical cohort study. 61
32970824 2021
30
Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study. 61
33546617 2021
31
Society for Maternal-Fetal Medicine Consult Series #53: Intrahepatic cholestasis of pregnancy: Replaces Consult #13, April 2011. 61
33197417 2021
32
The Impact of Assisted Reproductive Technology in Twin Pregnancies Complicated by Intrahepatic Cholestasis of Pregnancy: a Retrospective Cohort Study. 61
32198731 2021
33
Re-evaluating diagnostic thresholds for intrahepatic cholestasis of pregnancy: case-control and cohort study. 61
33586324 2021
34
Lysyl oxidase like protein-2 (LOXL-2); a novel marker for prediction of intrahepatic cholestasis of pregnancy. 61
33627052 2021
35
Intrahepatic cholestasis of pregnancy: machine-learning algorithm to predict elevated bile acid based on clinical and laboratory data. 61
33608801 2021
36
Relationship between pruritus and autotaxin in intrahepatic cholestasis of pregnancy. 61
33010963 2021
37
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
38
Pregnancy complicated by refractory severe hypercholanaemia from sodium taurocholate co-transporting polypeptide deficiency. 61
33174277 2021
39
Analysis of risk factors for obstetric outcomes after hysteroscopic adhesiolysis for Asherman syndrome: A retrospective cohort study. 61
33483955 2021
40
Ursodeoxycholic acid improves pregnancy outcome in patients with intrahepatic cholestasis during pregnancy: A protocol for systematic review and meta-analysis. 61
33530164 2021
41
Expression and Regulation of Aquaporins in Pregnancy Complications and Reproductive Dysfunctions. 61
33226842 2021
42
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
43
Diagnostic and Prognostic Value of Long Noncoding RNAs as Potential Novel Biomarkers in Intrahepatic Cholestasis of Pregnancy. 61
33728343 2021
44
The Recurrent Liver Disorder of a Pregnant Mother: Intrahepatic Cholestasis of Pregnancy - A Case Report and Literature Review. 61
33603498 2021
45
Intrahepatic Cholestasis of Pregnancy: Natural History and Current Management. 61
33764488 2021
46
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies. 61
33466755 2021
47
Pregnancy outcomes of Chinese women undergoing IVF with embryonic cryopreservation as compared to natural conception. 61
33422044 2021
48
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
49
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
50
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma. 61
32893960 2020

Variations for Intrahepatic Cholestasis of Pregnancy

ClinVar genetic disease variations for Intrahepatic Cholestasis of Pregnancy:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2599C>T (p.Arg867Cys) SNV Pathogenic 7272 rs121909103 GRCh37: 18:55328514-55328514
GRCh38: 18:57661282-57661282
2 ABCB4 NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) SNV Pathogenic 13687 rs121918440 GRCh37: 7:87041264-87041264
GRCh38: 7:87411948-87411948
3 ABCB4 NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) SNV Pathogenic 13690 rs72552778 GRCh37: 7:87076396-87076396
GRCh38: 7:87447080-87447080
4 ABCB4 NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) SNV Pathogenic 13689 rs121918441 GRCh37: 7:87069077-87069077
GRCh38: 7:87439761-87439761
5 ABCB4 NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) SNV Pathogenic 13696 rs72552780 GRCh37: 7:87082366-87082366
GRCh38: 7:87453050-87453050
6 ABCB4 NM_000443.4(ABCB4):c.2683-883_2783+345del Deletion Pathogenic 812921 GRCh37: 7:87042588-87043916
GRCh38: 7:87413272-87414600
7 ABCB4 NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) Duplication Pathogenic 812984 rs753104429 GRCh37: 7:87074281-87074282
GRCh38: 7:87444965-87444966
8 ABCB4 NM_000443.4(ABCB4):c.2044del (p.Asp682fs) Deletion Pathogenic 617459 rs1562965036 GRCh37: 7:87056086-87056086
GRCh38: 7:87426770-87426770
9 ABCB11 NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp) SNV Pathogenic 812747 rs199649780 GRCh37: 2:169781263-169781263
GRCh38: 2:168924753-168924753
10 ABCB4 NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) SNV Pathogenic 291252 rs375315619 GRCh37: 7:87069546-87069546
GRCh38: 7:87440230-87440230
11 ABCB4 NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) SNV Pathogenic 191220 rs752916287 GRCh37: 7:87041227-87041227
GRCh38: 7:87411911-87411911
12 ABCB4 NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) SNV Pathogenic 372802 rs754287486 GRCh37: 7:87082270-87082270
GRCh38: 7:87452954-87452954
13 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) SNV Pathogenic 6590 rs11568372 GRCh37: 2:169847329-169847329
GRCh38: 2:168990819-168990819
14 ABCB4 NM_000443.4(ABCB4):c.1712del (p.Val571fs) Deletion Pathogenic 13688 rs387906527 GRCh37: 7:87069002-87069002
GRCh38: 7:87439686-87439686
15 ABCB4 NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) Indel Pathogenic 13693 rs387906528 GRCh37: 7:87072662-87072663
GRCh38: 7:87443346-87443347
16 ABCB4 NM_000443.4(ABCB4):c.1357-2A>C SNV Likely pathogenic 812982 rs1584742063 GRCh37: 7:87069720-87069720
GRCh38: 7:87440404-87440404
17 ABCB4 NM_000443.4(ABCB4):c.1119+1G>T SNV Likely pathogenic 812983 rs1584750660 GRCh37: 7:87074177-87074177
GRCh38: 7:87444861-87444861
18 ABCB11 NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu) SNV Likely pathogenic 812746 rs778992761 GRCh37: 2:169781255-169781255
GRCh38: 2:168924745-168924745
19 ABCB11 NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) SNV Likely pathogenic 595557 rs201240844 GRCh37: 2:169814626-169814626
GRCh38: 2:168958116-168958116
20 ABCB11 NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) SNV Likely pathogenic 290081 rs188824058 GRCh37: 2:169828535-169828535
GRCh38: 2:168972025-168972025
21 ABCB4 NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) SNV Likely pathogenic 812975 rs1584665400 GRCh37: 7:87032549-87032549
GRCh38: 7:87403233-87403233
22 ABCB4 NM_000443.4(ABCB4):c.3486+1G>A SNV Likely pathogenic 501724 rs764513998 GRCh37: 7:87035603-87035603
GRCh38: 7:87406287-87406287
23 ABCB4 NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) Duplication Likely pathogenic 812976 rs1584671714 GRCh37: 7:87035655-87035656
GRCh38: 7:87406339-87406340
24 ABCB4 NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) SNV Likely pathogenic 195854 rs754565782 GRCh37: 7:87037402-87037402
GRCh38: 7:87408086-87408086
25 ABCB4 NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met) SNV Likely pathogenic 812977 rs1187517509 GRCh37: 7:87037408-87037408
GRCh38: 7:87408092-87408092
26 ABCB4 NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) SNV Likely pathogenic 587488 rs759202962 GRCh37: 7:87037496-87037496
GRCh38: 7:87408180-87408180
27 ABCB4 NM_000443.4(ABCB4):c.2880_2881AT[1] (p.Tyr961fs) Microsatellite Likely pathogenic 812978 rs1584684209 GRCh37: 7:87041250-87041251
GRCh38: 7:87411934-87411935
28 ABCB4 NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) SNV Likely pathogenic 812979 rs533310204 GRCh37: 7:87046754-87046754
GRCh38: 7:87417438-87417438
29 ABCB4 NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) SNV Likely pathogenic 812980 rs1037196284 GRCh37: 7:87060812-87060812
GRCh38: 7:87431496-87431496
30 ABCB4 NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) SNV Likely pathogenic 812981 rs571555115 GRCh37: 7:87060835-87060835
GRCh38: 7:87431519-87431519
31 ABCB11 NM_003742.4(ABCB11):c.2075+2T>C SNV Likely pathogenic 812748 rs1574445178 GRCh37: 2:169824935-169824935
GRCh38: 2:168968425-168968425
32 ABCB11 NM_003742.4(ABCB11):c.2012-8T>G SNV Likely pathogenic 284637 rs769910565 GRCh37: 2:169825008-169825008
GRCh38: 2:168968498-168968498
33 ABCB11 NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) SNV Likely pathogenic 596905 rs11568370 GRCh37: 2:169826590-169826590
GRCh38: 2:168970080-168970080
34 ABCB11 NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly) SNV Likely pathogenic 291278 rs886044710 GRCh37: 2:169826595-169826595
GRCh38: 2:168970085-168970085
35 ABCB11 NM_003742.4(ABCB11):c.1623C>G (p.Ile541Met) SNV Likely pathogenic 812749 rs764296800 GRCh37: 2:169828372-169828372
GRCh38: 2:168971862-168971862
36 ABCB4 NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) SNV Likely pathogenic 812750 rs1584754706 GRCh37: 7:87076450-87076450
GRCh38: 7:87447134-87447134
37 ABCB4 NM_000443.4(ABCB4):c.893del (p.Asn298fs) Deletion Likely pathogenic 812751 rs1584754766 GRCh37: 7:87076462-87076462
GRCh38: 7:87447146-87447146
38 ABCB4 NM_000443.4(ABCB4):c.834-1G>A SNV Likely pathogenic 812752 rs752563752 GRCh37: 7:87076522-87076522
GRCh38: 7:87447206-87447206
39 ABCB4 NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) Deletion Likely pathogenic 812753 rs1584763429 GRCh37: 7:87080995-87080995
GRCh38: 7:87451679-87451679
40 ABCB4 NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) SNV Likely pathogenic 596680 rs377160065 GRCh37: 7:87082321-87082321
GRCh38: 7:87453005-87453005
41 ABCB4 NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) SNV Likely pathogenic 812754 rs757693457 GRCh37: 7:87082347-87082347
GRCh38: 7:87453031-87453031
42 ATP8B1 , LOC100505549 NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) SNV Likely pathogenic 804427 rs1057524081 GRCh37: 18:55334358-55334358
GRCh38: 18:57667126-57667126
43 ABCB4 NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) SNV Conflicting interpretations of pathogenicity 13697 rs45575636 GRCh37: 7:87060844-87060844
GRCh38: 7:87431528-87431528
44 ABCB4 NM_000443.4(ABCB4):c.696C>T (p.Ala232=) SNV Conflicting interpretations of pathogenicity 360803 rs8187791 GRCh37: 7:87080951-87080951
GRCh38: 7:87451635-87451635
45 ABCB4 NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) SNV Uncertain significance 360801 rs144398632 GRCh37: 7:87060829-87060829
GRCh38: 7:87431513-87431513
46 ABCB4 NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) SNV Uncertain significance 360794 rs373122168 GRCh37: 7:87053296-87053296
GRCh38: 7:87423980-87423980
47 ABCB4 NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) SNV Uncertain significance 360800 rs886062460 GRCh37: 7:87060755-87060755
GRCh38: 7:87431439-87431439
48 ABCB4 NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) SNV Uncertain significance 282951 rs2230029 GRCh37: 7:87038596-87038596
GRCh38: 7:87409280-87409280
49 ABCB4 NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) SNV Uncertain significance 360792 rs376825608 GRCh37: 7:87037401-87037401
GRCh38: 7:87408085-87408085
50 ABCB4 NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) SNV Uncertain significance 360797 rs532332220 GRCh37: 7:87056148-87056148
GRCh38: 7:87426832-87426832

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 30)
# 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
11.86 SLCO1B1 CYP3A4 ABCB1
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
11
Show member pathways
11.68 SLCO1B3 SLCO1B1 SLCO1A2 CYP3A4 ABCC3 ABCC2
13
Show member pathways
11.65 SLCO1B1 CYP3A4 ABCC2 ABCB1
14
Show member pathways
11.62 SLCO1B3 NR1I2 CYP3A4 ABCC2 ABCB1
15 11.45 SLCO1B3 SLCO1B1 CYP3A4 ABCB1
16
Show member pathways
11.41 SLCO1B3 SLCO1B1 NR1I3 NR1I2 CYP3A4 ABCB1
17 11.36 NR1I3 CYP3A4 ABCC3 ABCC2 ABCB1
18 11.35 NR1I3 NR1I2 NR1H4 CYP3A4 ABCC3 ABCC2
19 11.32 SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 NR1H4 CYP3A4
20 11.27 TNF ABCC3 ABCC2
21 11.13 NR1H4 CYP3A4 ABCB4 ABCB11
22
Show member pathways
11.03 SLCO1B3 SLCO1B1 SLCO1A2 ABCC3 ABCC2 ABCB1
23 11.02 ABCC3 ABCC2 ABCB1
24 11.01 NR1I3 NR1I2 ABCC3 ABCC2 ABCB1
25 11 NR1I2 CYP3A4 ABCC3 ABCB1
26 10.84 SLCO1B1 NR1I3 NR1I2 NR1H4 CYP3A4 ABCC3
27 10.81 CYP3A4 ABCB1
28
Show member pathways
10.81 SLCO1A2 ABCB1
29 10.78 CYP3A4 ABCC3 ABCC2 ABCB1
30 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 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLCO1B3 SLCO1B1 SLCO1A2 SLC4A2 ABCC3 ABCC2
2 intracellular receptor signaling pathway GO:0030522 9.71 NR1I3 NR1I2 NR1H4
3 xenobiotic transport GO:0042908 9.65 NR1I2 ABCC3 ABCB11
4 phospholipid translocation GO:0045332 9.63 ATP8B1 ABCB4 ABCB1
5 sodium-independent organic anion transport GO:0043252 9.61 SLCO1B3 SLCO1B1 SLCO1A2
6 bile acid signaling pathway GO:0038183 9.58 NR1H4 ABCC2
7 bile acid metabolic process GO:0008206 9.58 NR1H4 ATP8B1 ABCB11
8 transepithelial transport GO:0070633 9.57 ABCC2 ABCB1
9 leukotriene transport GO:0071716 9.56 ABCC3 ABCC2
10 drug transport across blood-brain barrier GO:1990962 9.55 ABCC2 ABCB1
11 cellular response to bile acid GO:1903413 9.54 NR1H4 GPBAR1 ABCB4
12 regulation of chloride transport GO:2001225 9.52 ATP8B1 ABCB1
13 ceramide translocation GO:0099040 9.51 ABCB4 ABCB1
14 canalicular bile acid transport GO:0015722 9.5 ABCC3 ABCC2 ABCB11
15 drug export GO:0046618 9.49 ABCC2 ABCB11
16 drug transmembrane transport GO:0006855 9.46 ATP8B1 ABCC3 ABCC2 ABCB11
17 organic anion transport GO:0015711 9.35 SLCO1B3 SLCO1B1 SLCO1A2 ATP8B1 ABCC2
18 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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