ICP1
MCID: CHL116
MIFTS: 53

Cholestasis, Intrahepatic, of Pregnancy, 1 (ICP1)

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

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

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

Name: Cholestasis, Intrahepatic, of Pregnancy, 1 56 13 71
Icp1 56 12 73
Intrahepatic Cholestasis of Pregnancy 1 12 15
Recurrent Intrahepatic Cholestasis of Pregnancy 73
Cholestasis, Intrahepatic, of Pregnancy, Type 1 39
Cholestasis of Pregnancy, Intrahepatic 1 73
Cholestasis, Pregnancy-Related, 1 56
Pregnancy Related Cholestasis 1 12
Pregnancy-Related Cholestasis 73
Cholestasis, Intrahepatic 43
Cholestasis of Pregnancy 71
Obstetric Cholestasis 73

Characteristics:

OMIM:

56
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:

31
cholestasis, intrahepatic, of pregnancy, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070228
OMIM 56 147480
MeSH 43 D002780
UMLS 71 C0268318 C3549845

Summaries for Cholestasis, Intrahepatic, of Pregnancy, 1

OMIM : 56 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 intrahepatic cholestasis of pregnancy and cholestasis, intrahepatic, of pregnancy 3, 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 Hepatic ABC Transporters and Nuclear Receptor transcription pathway. The drugs Metformin and Ursodeoxycholic acid have been mentioned in the context of this disorder. 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 : 73 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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 intrahepatic cholestasis of pregnancy 32.8 NR1I3 NR1I2 NR1H4 INCENP ATP8B1 ABCC2
2 cholestasis, intrahepatic, of pregnancy 3 32.3 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 5 32.2 NR1I3 NR1H4 ATP8B1 ABCB4 ABCB11
4 cholestasis, progressive familial intrahepatic, 4 32.1 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
5 cholestasis, benign recurrent intrahepatic, 2 32.1 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
6 cholestasis, progressive familial intrahepatic, 2 32.1 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
7 cholestasis, benign recurrent intrahepatic, 1 32.1 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
8 cholestasis, progressive familial intrahepatic, 3 31.9 SLC10A2 NR1H4 JAG1 ATP8B1 ABCC2 ABCB4
9 cholestasis, progressive familial intrahepatic, 1 31.7 SLC10A2 NR1H4 JAG1 GGT1 ATP8B1 ABCC2
10 choledocholithiasis 30.5 SLC17A5 GGT1 ABCB4
11 cholelithiasis 30.5 NR1H4 GGT1 ABCB4
12 obstructive jaundice 30.3 SLC25A13 SLC17A5 GGT1 ABCC2
13 extrahepatic cholestasis 30.3 NR1H4 GGT1 ABCC2 ABCB4 ABCB11
14 familial intrahepatic cholestasis 29.7 SLC10A2 NR1H4 GGT3P GGT1 ATP8B1 ABCC2
15 progressive familial intrahepatic cholestasis 29.7 SLC10A2 NR1H4 GGT3P GGT1 ATP8B1 ABCC2
16 bilirubin metabolic disorder 29.5 SLC17A5 NR1I3 GGT1 ATP8B1 ABCC2 ABCB4
17 liver disease 29.4 SLC25A13 SLC17A5 NR1H4 GGT1 ATP8B1 ABCC2
18 primary biliary cirrhosis 29.3 SLC17A5 NR1I3 NR1I2 NR1H4 GGT1 ABCC2
19 cholestasis 29.2 SLC25A13 SLC17A5 SLC10A2 NR1I3 NR1I2 NR1H4
20 bile acid synthesis defect, congenital, 4 11.6
21 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
22 perforation of bile duct 10.4 GGT1 ATP8B1
23 biliary atresia, extrahepatic 10.4 JAG1 GGT1
24 suppurative cholangitis 10.4 GGT1 ABCB4
25 atp8b1 deficiency 10.4 NR1H4 ATP8B1 ABCB11
26 autosomal dominant non-syndromic intellectual disability 3 10.4 ABCB4 ABCB11
27 pericholangitis 10.4 SLC10A2 ABCB4 ABCB11
28 bile duct cysts 10.4 GGT1 ATP8B1 ABCB4
29 heart defects, congenital, and other congenital anomalies 10.3 SLC10A2 NR1H4 ABCB11
30 functional diarrhea 10.3 SLC10A2 NR1H4
31 parenteral nutrition-associated cholestasis 10.3 SLC17A5 GGT1 ABCB4
32 urea cycle disorder 10.3 SLC25A13 ATP8B1 ABCB11
33 dubin-johnson syndrome 10.3 ATP8B1 ABCC2 ABCB11
34 sitosterolemia 10.3 ATP8B1 ABCB4 ABCB11
35 citrullinemia, classic 10.3 SLC25A13 ATP8B1 ABCB11
36 bile acid synthesis defect, congenital, 1 10.3 SLC25A13 GGT1
37 fatty liver disease, nonalcoholic 1 10.3 SLC17A5 GGT1
38 common bile duct disease 10.3 GGT1 ABCB4
39 alagille syndrome 1 10.2 JAG1 ATP8B1 ABCB4 ABCB11
40 gallbladder disease 10.2 NR1H4 GGT1 ABCB4 ABCB11
41 pre-eclampsia 10.2
42 gallbladder disease 1 10.0
43 bile acid synthesis defect, congenital, 2 10.0 NR1I3 NR1I2 NR1H4 ABCB11
44 caroli disease 10.0 ATP8B1 ABCB4
45 exanthem 10.0
46 gestational diabetes 10.0
47 eclampsia 10.0
48 idiopathic hypercalciuria 10.0 SLC17A5 NR1I3
49 viral hepatitis 9.9
50 cholecystitis 9.9

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pruritus 31 HP:0000989
2 elevated hepatic transaminase 31 HP:0002910
3 jaundice 31 HP:0000952
4 premature birth 31 HP:0001622
5 fetal distress 31 HP:0025116
6 intrahepatic cholestasis 31 HP:0001406
7 abnormal liver function tests during pregnancy 31 HP:0200148
8 increased serum bile acid concentration during pregnancy 31 HP:0200150

Symptoms via clinical synopsis from OMIM:

56
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Multipolar spindles GR00222-A-1 8.8 AURKB CDCA8 INCENP
2 Decreased HPV16-GFP infection GR00350-A 8.65 ABCC2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ABCB11 ABCB4 ATP8B1 AURKB ESPL1 GGT1
2 homeostasis/metabolism MP:0005376 10 ABCB11 ABCB4 ABCC2 ATP8B1 AURKB CDCA8
3 liver/biliary system MP:0005370 9.7 ABCB11 ABCB4 ABCC2 ATP8B1 ESPL1 JAG1
4 mortality/aging MP:0010768 9.47 ABCB11 ATP8B1 AURKB CDCA8 ESPL1 GGT1

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

Drugs for Cholestasis, Intrahepatic, of Pregnancy, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
3 Hypoglycemic Agents Phase 4
4 Gastrointestinal Agents Phase 4
5
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
6
Ethanol Approved Phase 3 64-17-5 702
7
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
8 Liver Extracts Phase 2
9 Hypolipidemic Agents Phase 1
10 Lipid Regulating Agents Phase 1
11 Anticholesteremic Agents Phase 1
12 Cholestyramine Resin Phase 1
13 Antimetabolites Phase 1
14 Cola Phase 1
15
Dinoprostone Approved 363-24-6 5280360
16
Glycerol Approved, Investigational 56-81-5 753
17 Estrogens
18 Hormones
19
Bilirubin 69853-43-6, 635-65-4 21252250 5280352
20 4-phenylbutyric acid
21 Protective Agents
22 Bile Acids and Salts
23 Alpha 1-Antitrypsin
24 Protein C Inhibitor

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Effectiveness of S-adenosyl-L-methionine in Patients With Primary Biliary Cirrhosis Completed NCT02557360 Phase 4
2 Randomised Controlled Trial of Gestational Treatment With Ursodeoxycholic Acid Compared to Metformin to Reduce Effects of Diabetes Mellitus Not yet recruiting NCT04407650 Phase 4 Metformin;Ursodeoxycholic Acid
3 METformin in Intrahepatic Cholestasis of Pregnancy (METRIC) Study Unknown status NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
4 Randomised Placebo-controlled Study of Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
5 Open-Label Study With Ademetionine (Heptral®) in Subjects With Intrahepatic Cholestasis (IHC) Associated With Alcoholic Liver Disease (ALD) Completed NCT02200029 Phase 3 Ademetionine IV+tablet;Ademetionine tablet
6 An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2) Recruiting NCT03659916 Phase 3 A4250 (odevixibat)
7 MRX-502: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) - MARCH-PFIC Recruiting NCT03905330 Phase 3 Maralixibat
8 An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Enrolling by invitation NCT04185363 Phase 3 Maralixibat
9 Intrahepatic Cholestasis Of Pregnancy: Clinical Impact Of Ursodeoxycholic Acid Treatment Withdrawn NCT01226823 Phase 3 Ursodeoxycholic Acid;Placebo
10 Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Withdrawn NCT03353454 Phase 3 Maralixibat;Placebo
11 A Randomised, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Repeat Doses of GSK2330672 Administration in Patients With Primary Biliary Cirrhosis (PBC) and Symptoms of Pruritus Completed NCT01899703 Phase 2 GSK2330672;Placebo;Ursodeoxycholic acid
12 Open Label Study of the Efficacy and Long Term Safety of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Patients With Progressive Familial Intrahepatic Cholestasis Completed NCT02057718 Phase 2 LUM001
13 S-Adenosyl Methionine for Symptomatic Treatment of Primary Biliary Cirrhosis Terminated NCT00125281 Phase 2 S-adenosyl-methionine (SAMe) capsules
14 A Phase I, Double-Blind Single and Multiple Ascending Dose Study to Assess Safety and Pharmacokinetics of A4250 as Monotherapy, and in Combination With Colonic Release Cholestyramine (A3384) or Commercially Available Cholestyramine (Questran™) in Healthy Subjects Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
15 An Open Label, Single-Dose, Single Period Study Designed to Assess the Mass Balance Recovery, Metabolite Profile and Metabolite Identification of [14C]-A4250 in Healthy Male Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
16 Diagnostic Accuracy of Serum Autotaxin Levels in Cholestasis of Pregnancy Unknown status NCT02480478
17 Apoptosis May Have a Role in Etiopathogenesis of Obstetric Cholestasis. Unknown status NCT02192177
18 P-wave Duration and Dispersion in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01906827
19 to Investigate the Maternal Serum IL-17 Levels in Pregnant Women With Intrahepatic Cholestasis of Pregnancy Unknown status NCT01898832
20 Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group. Completed NCT00700232
21 Induction of Labor in Intrahepatic Cholestasis of Pregnancy Completed NCT01381939
22 DECREASE OF CHOLESTASIS USING CYCLED PARENTERAL NUTRITION IN NEWBORNS REQUIRING PROLONGED PARENTERAL NUTRITION Completed NCT02692326
23 Validation of the ItchRO Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
24 Feasibility and Acceptability of the Combination of Propess and AN24 Monica for Outpatient Labour Induction (PRAM) Completed NCT01026948 Dinoprostone
25 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
26 Genetic Polymorphisms of ABCB11 and ABCB4 in Women With Intrahepatic Cholestasis of Pregnancy (ICP) and in Their First Degree Relatives Recruiting NCT04281082 ursofalk
27 EASL: European Registry of Liver Disease in Pregnancy Recruiting NCT03834285
28 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 Recruiting NCT01499524
29 Adaptations in Subcutaneous and Visceral Adipose Tissue Metabolism During Normal and Pathological Pregnancies Recruiting NCT02495987
30 Secondary Sclerosing Cholangitis in Critically Ill Patients (SSC-CIP): A Pilot Study on the Possible Genetic Basis of the Disease Recruiting NCT02545309
31 Is an Integrated Care Pathway for Adolescents With Depression More Effective Than Treatment as Usual? A Controlled Clinical Trial Recruiting NCT03428555
32 NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion (NAPPED Study), Meta-analysis of Individual Patient Data of PFIC Before and After Surgery (Bile Diversion or Liver Transplantation) Enrolling by invitation NCT03930810
33 Intestinal Microbiome Composition in Infants With Biliary Atresia Not yet recruiting NCT03890536
34 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Not yet recruiting NCT04071197
35 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
36 Compassionate Use of Buphenyl® in the Treatment of Byler's Disease No longer available NCT01784718 Buphenyl
37 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease No longer available NCT02094222 RAVICTI
38 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) Suspended NCT00571272
39 The Use of Fish Oil Supplementation in Treatment of Intrahepatic Cholestasis of Pregnancy Withdrawn NCT01965054

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:

40
Liver, Small Intestine, Testes, Colon, Placenta, Bone, Bone Marrow

Publications for Cholestasis, Intrahepatic, of Pregnancy, 1

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

(show top 50) (show all 170)
# Title Authors PMID Year
1
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 54 56 6
15888793 2005
2
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. 54 56
15657619 2005
3
Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. 54 56
12801961 2003
4
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. 56
21989363 2012
5
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 6
15239083 2004
6
Inheritance of intrahepatic cholestasis of pregnancy in one kindred. 56
8370153 1993
7
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. 56
6852450 1983
8
The enigma of intrahepatic cholestasis of pregnancy: lessons from Chile. 56
7054071 1982
9
Prevalence of intrahepatic cholestasis of pregnancy in Chile. 56
637428 1978
10
Idiopathic cholestasis of pregnancy in a large kindred. 56
976812 1976
11
Norethisterone jaundice in two sisters. 56
4296504 1968
12
Cholestasis of pregnancy. 56
5637248 1968
13
RECURRENT INTRAHEPATIC CHOLESTASIS OF PREGNANCY: OBSERVATIONS ON PATHOGENESIS. 56
14326722 1965
14
IDIOPATHIC JAUNDICE OF PREGNANCY. 56
14123402 1964
15
Hepatitis in pregnancy. 56
13875565 1962
16
Recurrent jaundice of pregnancy; a clinical study of twenty-two cases. 56
13661186 1959
17
Dominant Vibrio cholerae phage exhibits lysis inhibition sensitive to disruption by a defensive phage satellite. 61
32329714 2020
18
Microbial Metabolic Potential of Phenol Degradation in Wastewater Treatment Plant of Crude Oil Refinery: Analysis of Metagenomes and Characterization of Isolates. 61
32365784 2020
19
ALDH1A1 Inhibits Chicken Preadipocytes' Proliferation and Differentiation via the PPARγ Pathway In Vitro and In Vivo. 61
32365706 2020
20
RXRα Positively Regulates Expression of the Chicken PLIN1 Gene in a PPARγ-Independent Manner and Promotes Adipogenesis. 61
32478078 2020
21
Genome replication dynamics of a bacteriophage and its satellite reveal strategies for parasitism and viral restriction. 61
31667508 2020
22
Viral Satellites Exploit Phage Proteins to Escape Degradation of the Bacterial Host Chromosome. 61
31600502 2019
23
Bone morphogenetic protein 4 regulates immortalized chicken preadipocyte proliferation by promoting G1/S cell cycle progression. 61
30972973 2019
24
Competition between mobile genetic elements drives optimization of a phage-encoded CRISPR-Cas system: insights from a natural arms race. 61
30905288 2019
25
Promoter Methylation Regulates ApoA-I Gene Transcription in Chicken Abdominal Adipose Tissue. 61
30932484 2019
26
Surface-based registration between CT and US for image-guided percutaneous renal access - A feasibility study. 61
30592311 2019
27
Niche adaptation limits bacteriophage predation of Vibrio cholerae in a nutrient-poor aquatic environment. 61
30635420 2019
28
Vibrio cholerae Outer Membrane Vesicles Inhibit Bacteriophage Infection. 61
29661863 2018
29
Anti-phage islands force their target phage to directly mediate island excision and spread. 61
29904071 2018
30
Analysis of 19 Highly Conserved Vibrio cholerae Bacteriophages Isolated from Environmental and Patient Sources Over a Twelve-Year Period. 61
29857590 2018
31
Nuclear Respiratory Factor 1 Negatively Regulates the P1 Promoter of the Peroxisome Proliferator-Activated Receptor-γ Gene and Inhibits Chicken Adipogenesis. 61
30618832 2018
32
Analysis of the CRISPR-Cas system in bacteriophages active on epidemic strains of Vibrio cholerae in Bangladesh. 61
29093571 2017
33
Mechanisms of the evolutionary arms race between Vibrio cholerae and Vibriophage clinical isolates. 61
29446802 2017
34
A highly specific phage defense system is a conserved feature of the Vibrio cholerae mobilome. 61
28594826 2017
35
Modulation of endogenous Cysteine Protease Inhibitor (ICP) 1 expression in Entamoeba histolytica affects amoebic adhesion to Extracellular Matrix proteins. 61
25500214 2015
36
Genome-wide characterization of Vibrio phage φpp2 with unique arrangements of the mob-like genes. 61
22676552 2012
37
Evidence of a dominant lineage of Vibrio cholerae-specific lytic bacteriophages shed by cholera patients over a 10-year period in Dhaka, Bangladesh. 61
21304168 2011
38
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. 54
20232290 2010
39
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 54
20422495 2010
40
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 54
20422496 2010
41
Genetic determinants of drug-induced cholestasis and intrahepatic cholestasis of pregnancy. 54
20422497 2010
42
Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. 54
20458766 2010
43
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. 54
20070398 2010
44
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. 54
20376801 2010
45
The influence of common gene variants of the xenobiotic receptor (PXR) in genetic susceptibility to intrahepatic cholestasis of pregnancy. 54
19958310 2010
46
[Expression of HLA-G protein in placental tissues and its influence on Th1/Th2 cytokines in peripheral blood in patients with intrahepatic cholestasis of pregnancy]. 54
20360645 2010
47
ATPase Class I Type 8B Member 1 and protein kinase C zeta induce the expression of the canalicular bile salt export pump in human hepatocytes. 54
19809379 2010
48
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. 54
20038848 2010
49
Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. 54
19840255 2010
50
Strain background modifies phenotypes in the ATP8B1-deficient mouse. 54
20126555 2010

Variations for Cholestasis, Intrahepatic, of Pregnancy, 1

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 ABCB11 NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys)SNV Pathogenic 374098 rs72549398 2:169788952-169788952 2:168932442-168932442
3 ATP8B1 , LOC100505549 NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)SNV Likely pathogenic 804427 18:55334358-55334358 18:57667126-57667126
4 ATP8B1 NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn)SNV Conflicting interpretations of pathogenicity 7271 rs34719006 18:55373793-55373793 18:57706561-57706561
5 ATP8B1 NM_005603.6(ATP8B1):c.2546G>A (p.Arg849Gln)SNV Uncertain significance 383293 rs144656719 18:55328567-55328567 18:57661335-57661335
6 ATP8B1 NM_005603.6(ATP8B1):c.1981A>G (p.Ile661Val)SNV Uncertain significance 498425 rs1555689790 18:55336666-55336666 18:57669434-57669434

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

73
# Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Asn45Thr VAR_043044 rs146599962
2 ATP8B1 p.Arg867Cys VAR_043072 rs121909103

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 nucleoplasm GO:0005654 10.1 TLK1 RPA4 NR1I3 NR1I2 NR1H4 INCENP
2 integral component of plasma membrane GO:0005887 9.86 SLC25A13 SLC17A5 SLC10A2 JAG1 ATP8B1 ABCC2
3 apical plasma membrane GO:0016324 9.72 SLC10A2 JAG1 ATP8B1 ABCC2 ABCB4
4 RNA polymerase II transcription factor complex GO:0090575 9.54 NR1I3 NR1I2 NR1H4
5 chromocenter GO:0010369 9.33 INCENP CDCA8 AURKB
6 intercellular canaliculus GO:0046581 9.13 ABCC2 ABCB4 ABCB11
7 chromosome passenger complex GO:0032133 8.8 INCENP CDCA8 AURKB

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLC25A13 SLC17A5 SLC10A2 ABCC2 ABCB4 ABCB11
2 cellular response to lipopolysaccharide GO:0071222 9.78 NR1I3 NR1I2 NR1H4 ABCC2
3 response to estradiol GO:0032355 9.76 GGT3P GGT1 ABCC2
4 cholesterol homeostasis GO:0042632 9.75 NR1I3 NR1I2 NR1H4
5 chromosome segregation GO:0007059 9.73 TLK1 INCENP ESPL1
6 steroid hormone mediated signaling pathway GO:0043401 9.67 NR1I3 NR1I2 NR1H4
7 glutathione biosynthetic process GO:0006750 9.57 GGT3P GGT1
8 bile acid metabolic process GO:0008206 9.55 NR1H4 ATP8B1
9 glutathione catabolic process GO:0006751 9.54 GGT3P GGT1
10 intracellular receptor signaling pathway GO:0030522 9.54 NR1I3 NR1I2 NR1H4
11 leukotriene D4 biosynthetic process GO:1901750 9.52 GGT3P GGT1
12 regulation of immune system process GO:0002682 9.51 GGT3P GGT1
13 mitotic sister chromatid segregation GO:0000070 9.5 INCENP ESPL1 CDCA8
14 cellular response to bile acid GO:1903413 9.46 NR1H4 ABCB4
15 canalicular bile acid transport GO:0015722 9.4 ABCC2 ABCB11
16 response to lipid GO:0033993 9.33 NR1I3 NR1I2 NR1H4
17 peptide modification GO:0031179 9.26 GGT3P GGT1
18 lipid homeostasis GO:0055088 9.26 NR1I3 NR1I2 NR1H4 ABCB4
19 bile acid and bile salt transport GO:0015721 9.02 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor transcription coactivator activity GO:0030374 9.61 NR1I3 NR1I2 NR1H4
2 steroid hormone receptor activity GO:0003707 9.58 NR1I3 NR1I2 NR1H4
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.54 ABCC2 ABCB4 ABCB11
4 glutathione hydrolase activity GO:0036374 9.46 GGT3P GGT1
5 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.32 GGT3P GGT1
6 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.26 GGT3P GGT1
7 peptidyltransferase activity GO:0000048 9.16 GGT3P GGT1
8 nuclear receptor activity GO:0004879 9.13 NR1I3 NR1I2 NR1H4
9 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 8.8 NR1I3 NR1I2 NR1H4

Sources for Cholestasis, Intrahepatic, of Pregnancy, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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