MCID: INT001
MIFTS: 60

Intrahepatic Cholestasis

Categories: Rare diseases, Liver diseases, Reproductive diseases, Gastrointestinal diseases, Endocrine diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Intrahepatic Cholestasis

MalaCards integrated aliases for Intrahepatic Cholestasis:

Name: Intrahepatic Cholestasis 12 29 6 15 73
Intrahepatic Cholestasis of Pregnancy 12 53 25 59
Recurrent Intrahepatic Cholestasis of Pregnancy 53 25 59
Pregnancy-Related Cholestasis 53 25 59
Gravidic Intrahepatic Cholestasis 53 59
Familial Recurrent Intrahepatic Cholestasis of Pregnancy 53
Familial Intrahepatic Cholestasis of Pregnancy 53
Cholestasis, Intrahepatic of Pregnancy 53
Pregnancy Related Cholestasis 53
Cholestasis, Intrahepatic 44
Cholestasis Intrahepatic 55
Cholestasis of Pregnancy 73
Obstetric Cholestasis 25
Ricp 53
Icp 53

Characteristics:

Orphanet epidemiological data:

59
intrahepatic cholestasis of pregnancy
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:1852
MeSH 44 D002780
NCIt 50 C84400
SNOMED-CT 68 4637005
Orphanet 59 ORPHA69665
MESH via Orphanet 45 C535932
ICD10 via Orphanet 34 O26.6

Summaries for Intrahepatic Cholestasis

NIH Rare Diseases : 53 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.

MalaCards based summary : Intrahepatic Cholestasis, also known as intrahepatic cholestasis of pregnancy, is related to cholestasis, benign recurrent intrahepatic, 1 and cholestasis, progressive familial intrahepatic, 2, and has symptoms including icterus, hepatocellular jaundice and pruritus of pregnancy. An important gene associated with Intrahepatic Cholestasis is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Synthesis of bile acids and bile salts and Hepatic ABC Transporters. The drugs Ursodeoxycholic acid and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 25 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.

Related Diseases for Intrahepatic Cholestasis

Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 1 34.7 ABCB11 ATP8B1
2 cholestasis, progressive familial intrahepatic, 2 34.3 ABCB11 ABCB4 ATP8B1
3 cholestasis, progressive familial intrahepatic, 3 33.9 ABCB11 ABCB4 ATP8B1 JAG1
4 atp8b1 deficiency 33.4 ABCB11 ATP8B1 NR1H4
5 cholestasis, progressive familial intrahepatic, 1 32.9 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 NR1H4
6 alagille syndrome 1 30.6 ABCB4 ATP8B1 JAG1
7 extrahepatic cholestasis 30.6 ABCB4 ABCC2 GGT1
8 cholangitis 30.5 ABCB11 ABCB4 GGT1
9 sclerosing cholangitis 30.4 ABCB11 ABCB4 GGT1 NR1I2
10 biliary atresia 30.2 ATP8B1 JAG1 NR1H4 SLC10A2
11 liver disease 30.2 ABCB11 ABCB4 ATP8B1 GGT1 HSD3B7 NR1H4
12 cholestasis 28.4 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HSD3B7
13 citrullinemia, type ii, neonatal-onset 12.2
14 cholestasis, benign recurrent intrahepatic, 2 12.1
15 myo5b-related progressive familial intrahepatic cholestasis 12.1
16 cholestasis, intrahepatic, of pregnancy, 1 11.9
17 bile acid synthesis defect, congenital, 4 11.8
18 bile acid synthesis defect, congenital, 1 11.8
19 citrullinemia, type ii, adult-onset 11.5
20 cholestasis, progressive familial intrahepatic, 4 11.4
21 bile acid synthesis defect, congenital, 2 11.2
22 cholestasis, progressive familial intrahepatic, 5 11.1
23 gilbert syndrome 11.1
24 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
25 gallbladder disease 1 11.1
26 north american indian childhood cirrhosis 11.1
27 crigler-najjar syndrome, type ii 11.1
28 bile acid synthesis defect, congenital, 3 11.1
29 cholestasis, intrahepatic, of pregnancy 3 11.1
30 biliary atresia, extrahepatic 10.6 GGT1 JAG1
31 obstructive jaundice 10.5 GGT1 SLC17A5 SLC25A13
32 hepatitis 10.5
33 cholangitis, primary sclerosing 10.5 ABCB4 GGT1 NR1I2
34 hyperbilirubinemia, rotor type 10.4 ABCC2 SLCO1B1
35 gastrointestinal system disease 10.4 ABCB11 GGT1 NR1I2
36 neonatal jaundice 10.3 NR1I3 SLCO1B1 UTP4
37 amyloidosis 10.3
38 vaginal cancer 10.2 HLA-G SLC10A2
39 pancreatitis 10.2
40 hepatitis c 10.1
41 sickle cell disease 10.1
42 eclampsia 10.0
43 placenta disease 10.0
44 hypoxia 10.0
45 primary biliary cirrhosis 10.0 ABCB4 GGT1 NR1H4
46 pheochromocytoma 9.9
47 dubin-johnson syndrome 9.9
48 myeloma, multiple 9.9
49 wilson disease 9.9
50 aging 9.9

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



Diseases related to Intrahepatic Cholestasis

Symptoms & Phenotypes for Intrahepatic Cholestasis

UMLS symptoms related to Intrahepatic Cholestasis:


icterus, hepatocellular jaundice, pruritus of pregnancy

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.72 NR1H4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.72 HLA-G
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 NR1H4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.72 NR1H4 HLA-G
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 GGT3P
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.72 HLA-G
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.72 GGT1 GGT3P
8 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.72 GGT1 GGT3P
9 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.72 HLA-G
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 NR1H4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 NR1H4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 GGT1 GGT3P
13 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.72 HLA-G
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.72 HLA-G
15 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.72 HLA-G
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.72 NR1H4 GGT1 GGT3P HLA-G
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 HLA-G
18 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.72 NR1H4
19 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 9.13 NR1H4 TJP2 UTP4

MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ABCB11 ABCB4 ATP8B1 GGT1 HSD3B7 JAG1
2 homeostasis/metabolism MP:0005376 10.03 JAG1 NR1H4 NR1I2 NR1I3 SLC10A2 SLC17A5
3 liver/biliary system MP:0005370 9.73 ABCB11 ABCB4 ABCC2 ATP8B1 HSD3B7 JAG1
4 mortality/aging MP:0010768 9.4 SLC17A5 SLC25A13 TJP2 TMEM30A ABCB11 ATP8B1

Drugs & Therapeutics for Intrahepatic Cholestasis

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 3,Phase 2 128-13-2 31401
2
Ethanol Approved Phase 3 64-17-5 702
3
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
4
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
5 Cholagogues and Choleretics Phase 3,Phase 2
6 Gastrointestinal Agents Phase 3,Phase 2
7 Liver Extracts Phase 3,Phase 2,Not Applicable
8 Hypoglycemic Agents Phase 2, Phase 3
9 Pharmaceutical Solutions Phase 3
10 Bile Acids and Salts Phase 2
11 Anticholesteremic Agents Phase 1
12 Antimetabolites Phase 1
13 Cholestyramine Resin Phase 1
14 Hypolipidemic Agents Phase 1
15 Lipid Regulating Agents Phase 1
16 Cola Nutraceutical Phase 1
17
Pancrelipase Approved, Investigational 53608-75-6
18
Iron Approved 7439-89-6 23925
19 Estrogens
20 Hematinics Not Applicable
21 Alpha 1-Antitrypsin
22 pancreatin
23 Protein C Inhibitor
24 Hormones
25
Bilirubin 635-65-4 5280352

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
2 Study With Heptral in Subjects With Liver Disease Due to Alcohol Consumption Completed NCT02200029 Phase 3 Ademetionine IV+tablet;Ademetionine tablet
3 This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC 1 or 2 Recruiting NCT03566238 Phase 3 A4250;Placebo
4 Metformin in Intrahepatic Cholestasis of Pregnancy Not yet recruiting NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
5 Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Not yet recruiting NCT03353454 Phase 3 Maralixibat;Placebo
6 Ursodeoxycholic Acid And Cholestasis Of Pregnancy Withdrawn NCT01226823 Phase 3 Ursodeoxycholic Acid;Placebo
7 Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis Active, not recruiting NCT02057718 Phase 2 LUM001
8 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
9 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
10 Il-17 Levels in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01898832
11 Serum Autotaxin Levels in Cholestasis of Pregnancy Unknown status NCT02480478
12 P-wave Duration and Dispersion in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01906827
13 Apoptosis May Have a Role in Etiopathogenesis of Obstetric Cholestasis. Unknown status NCT02192177
14 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
15 Induction of Labor in Intrahepatic Cholestasis of Pregnancy Completed NCT01381939
16 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
17 Cholestasis in Extreme Low Birth Weight Infants (ELBW) Completed NCT01164878
18 Endoscopic Ultrasound(EUS)-Guided TRUCUT Biopsy (EUS-TCB) of Suspected Nonalcoholic Fatty Liver Disease(NAFLD.) Completed NCT00586313 Not Applicable
19 Impact of Cyclic Prolonged Parenteral Nutrition in Neonates Completed NCT02692326 Not Applicable
20 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
21 Role of Complete Blood Picture in Predicting the Etiology of Extrahepatic Cholestasis Completed NCT03237247
22 Retrospective Longitudinal Study of Gestational Weight Gain Among Chinese Pregnant Women Completed NCT03154268
23 The Metabolic Profile in Intrahepatic Cholestasis of Pregnancy and Diabetes Mellitus Recruiting NCT01499524
24 Bile Acid Effects in Fetal Arrhythmia Study Recruiting NCT03519399
25 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
26 White Adipose Tissue in Pregnancy Study Recruiting NCT02495987
27 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
28 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
29 Epidemiological Study of Neonatal Acute Respiratory Distress Syndrome (ARDS) Recruiting NCT03311165
30 The Use of Fish Oil Supplementation in Treatment of Intrahepatic Cholestasis of Pregnancy Withdrawn NCT01965054 Not Applicable

Search NIH Clinical Center for Intrahepatic Cholestasis

Cochrane evidence based reviews: cholestasis, intrahepatic

Genetic Tests for Intrahepatic Cholestasis

Genetic tests related to Intrahepatic Cholestasis:

# Genetic test Affiliating Genes
1 Intrahepatic Cholestasis 29

Anatomical Context for Intrahepatic Cholestasis

MalaCards organs/tissues related to Intrahepatic Cholestasis:

41
Liver, Eye, Skin, Placenta, Testes, Heart, Endothelial

Publications for Intrahepatic Cholestasis

Articles related to Intrahepatic Cholestasis:

(show top 50) (show all 865)
# Title Authors Year
1
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. ( 29973134 )
2018
2
Treatment of intrahepatic cholestasis of pregnancy with ursodeoxycholic acid associated with improvement of fetal first-degree atrioventricular block. ( 29484735 )
2018
3
Diagnostic and therapeutic profiles of serum bile acids in women with intrahepatic cholestasis of pregnancy-a pseudo-targeted metabolomics study. ( 29709452 )
2018
4
Long-term outcome after cholecystocolostomy for progressive familial intrahepatic cholestasis. ( 29934967 )
2018
5
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. ( 29718219 )
2018
6
Yinchenhao Decoction Ameliorates Alpha-Naphthylisothiocyanate Induced Intrahepatic Cholestasis in Rats by Regulating Phase II Metabolic Enzymes and Transporters. ( 29867509 )
2018
7
Open-label study of ademetionine for the treatment of intrahepatic cholestasis associated with alcoholic liver disease. ( 29431335 )
2018
8
Reversible intrahepatic cholestasis in metastatic prostate cancer: An uncommon paraneoplastic syndrome. ( 29541472 )
2018
9
Intrahepatic cholestasis of pregnancy and associated causes of death: a cohort study with follow-up of 27-46A years. ( 29914448 )
2018
10
Effect of inducible nitric oxide synthase and neuropeptide Y in plasma and placentas from intrahepatic cholestasis of pregnancy. ( 29956420 )
2018
11
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low I^-glutamyltransferase. ( 29316097 )
2018
12
Impacts of different methods of conception on the perinatal outcome of intrahepatic cholestasis of pregnancy in twin pregnancies. ( 29507303 )
2018
13
Lipidomics reveal Aryl hydrocarbon receptor (Ahr)-regulated lipid metabolic pathway in alpha-naphthyl isothiocyanate(ANIT)-induced intrahepatic cholestasis. ( 29737914 )
2018
14
Resveratrol Regulating SIRT1-NF-I_B Signal Pathway in Intrahepatic Cholestasis of Pregnancy. ( 29855113 )
2018
15
Assessment of circulating betatrophin levels in intrahepatic cholestasis of pregnancy. ( 29890866 )
2018
16
Different effects of ursodeoxycholic acid on intrahepatic cholestasis in acute and recovery stages induced by alpha-naphthylisothiocyanate in mice. ( 29407775 )
2018
17
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. ( 29191380 )
2018
18
Giant Right Atrial Aneurysm Accompanying Intrahepatic Cholestasis. ( 29682357 )
2018
19
Perinatal outcomes in intrahepatic cholestasis of pregnancy with monochorionic diamniotic twin pregnancy. ( 29980184 )
2018
20
Does ursodeoxycholic acid improve perinatal outcomes in women with intrahepatic cholestasis of pregnancy? ( 29419378 )
2018
21
Low serum vitamin D level is associated with intrahepatic cholestasis of pregnancy. ( 29978524 )
2018
22
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. ( 29404523 )
2018
23
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies. ( 29761168 )
2018
24
Intrahepatic cholestasis of pregnancy: Shorter duration of labor? ( 29680685 )
2018
25
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations. ( 29412511 )
2018
26
Histological changes of the intestinal mucosa in complications following a living donor liver transplantation for progressive familial intrahepatic cholestasis type 1. ( 29935008 )
2018
27
The role of adenosyl-methionine in alcoholic liver disease and intrahepatic cholestasis. ( 29521488 )
2018
28
Role of ischemia-modified albumin in the evaluation of oxidative stress in intrahepatic cholestasis of pregnancy. ( 29739259 )
2018
29
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. ( 28924228 )
2017
30
Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28982379 )
2017
31
Intrahepatic cholestasis of pregnancy or azithromycin-induced intrahepatic cholestasis: A case report. ( 29384912 )
2017
32
Can we predict severity of intrahepatic cholestasis of pregnancy using inflammatory markers? ( 29085705 )
2017
33
Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report. ( 28838453 )
2017
34
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V). ( 28937026 )
2017
35
Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis. ( 28073941 )
2017
36
Maternal copeptin levels in intrahepatic cholestasis of pregnancy. ( 28552021 )
2017
37
Balancing Medical and Non-Accidental Causes of Multiple Fractures in a Child with Progressive Familial Intrahepatic Cholestasis. ( 29118315 )
2017
38
Sickle cell intrahepatic cholestasis unresponsive to exchange blood transfusion: a case report. ( 28577654 )
2017
39
A retrospective cohort review of intrahepatic cholestasis of pregnancy in a South Australian population. ( 28926728 )
2017
40
Huangqi Decoction Alleviates Alpha-Naphthylisothiocyanate Induced Intrahepatic Cholestasis by Reversing Disordered Bile Acid and Glutathione Homeostasis in Mice. ( 29311939 )
2017
41
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28923092 )
2017
42
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. ( 28425419 )
2017
43
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). ( 29137101 )
2017
44
miR-148a-mediated estrogen-induced cholestasis in intrahepatic cholestasis of pregnancy: Role of PXR/MRP3. ( 28575098 )
2017
45
Ursodeoxycholic Acid Ameliorates Intrahepatic Cholestasis Independent of Biliary Bicarbonate Secretion in Vil2(kd/kd) Mice. ( 28049946 )
2017
46
Urinary metabolomic analysis of intrahepatic cholestasis of pregnancy based on high performance liquid chromatography/mass spectrometry. ( 28669684 )
2017
47
Increased levels of the novel hepatokine fetuin B in patients with intrahepatic cholestasis of pregnancy. ( 29233036 )
2017
48
Effect of intrahepatic cholestasis of pregnancy on neonatal birth weight: a meta-analysis. ( 28825589 )
2017
49
Outcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis. ( 27916445 )
2017
50
Protective Effects of Ginsenosides on 17[Formula: see text]-Ethynyelstradiol-Induced Intrahepatic Cholestasis via Anti-Oxidative and Anti-Inflammatory Mechanisms in Rats. ( 29121800 )
2017

Variations for Intrahepatic Cholestasis

ClinVar genetic disease variations for Intrahepatic Cholestasis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB11 NM_003742.2(ABCB11): c.3148C> T (p.Arg1050Cys) single nucleotide variant Pathogenic rs72549398 GRCh37 Chromosome 2, 169788952: 169788952
2 ABCB11 NM_003742.2(ABCB11): c.3148C> T (p.Arg1050Cys) single nucleotide variant Pathogenic rs72549398 GRCh38 Chromosome 2, 168932442: 168932442
3 ABCB4 NM_018849.2(ABCB4): c.1006-1G> T single nucleotide variant Pathogenic rs772823352 GRCh37 Chromosome 7, 87074292: 87074292
4 ABCB4 NM_018849.2(ABCB4): c.1006-1G> T single nucleotide variant Pathogenic rs772823352 GRCh38 Chromosome 7, 87444976: 87444976

Expression for Intrahepatic Cholestasis

Search GEO for disease gene expression data for Intrahepatic Cholestasis.

Pathways for Intrahepatic Cholestasis

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 ABCB11 HSD3B7 NR1H4 SLC10A2 SLCO1A2 SLCO1B1
2
Show member pathways
11.81 ABCB11 ABCB4 ABCC2 SLCO1A2 SLCO1B1
3
Show member pathways
11.67 ABCB11 ABCC2 SLCO1A2 SLCO1B1
4
Show member pathways
11.61 NR1H4 NR1I2 NR1I3
5
Show member pathways
11.38 ABCC2 NR1I2 NR1I3
6 11.35 ABCB11 ABCB4 ABCC2 NR1H4 SLC10A2 SLCO1A2
7 11.18 ABCB11 ABCB4 ABCC2 NR1H4 NR1I2 NR1I3
8
Show member pathways
10.88 ABCC2 SLCO1A2 SLCO1B1
9 10.87 GGT1 GGT3P
10 10.82 ABCB11 ABCB4 NR1H4
11 10.61 ABCC2 NR1I2
12 10.33 ABCB11 ABCC2 NR1H4 NR1I2 NR1I3 SLCO1B1

GO Terms for Intrahepatic Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.65 ABCB11 ABCB4 ABCC2 ATP8B1 JAG1 SLC10A2
2 apical plasma membrane GO:0016324 9.63 ABCB4 ABCC2 ATP8B1 JAG1 SLC10A2 TMEM30A
3 apical part of cell GO:0045177 9.61 ABCB11 ABCB4 JAG1
4 RNA polymerase II transcription factor complex GO:0090575 9.58 NR1H4 NR1I2 NR1I3
5 brush border membrane GO:0031526 9.5 ABCB4 ABCC2 ATP8B1
6 intercellular canaliculus GO:0046581 8.8 ABCB11 ABCB4 ABCC2
7 membrane GO:0016020 10.33 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HLA-G
8 plasma membrane GO:0005886 10.18 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HLA-G
9 integral component of membrane GO:0016021 10.13 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 GGT3P

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.8 ABCB4 ATP8B1 TMEM30A
2 cellular response to lipopolysaccharide GO:0071222 9.78 ABCC2 NR1H4 NR1I2 NR1I3
3 cholesterol homeostasis GO:0042632 9.77 NR1H4 NR1I2 NR1I3
4 transmembrane transport GO:0055085 9.76 ABCB11 ABCB4 ABCC2 SLC10A2 SLC17A5 SLC25A13
5 steroid hormone mediated signaling pathway GO:0043401 9.73 NR1H4 NR1I2 NR1I3
6 intracellular receptor signaling pathway GO:0030522 9.7 NR1H4 NR1I2 NR1I3
7 intestinal absorption GO:0050892 9.62 ABCB4 TJP2
8 glutathione biosynthetic process GO:0006750 9.62 GGT1 GGT3P
9 response to glucagon GO:0033762 9.61 ABCB4 ABCC2
10 bile acid metabolic process GO:0008206 9.61 ATP8B1 NR1H4
11 organic anion transport GO:0015711 9.61 ABCC2 SLCO1A2 SLCO1B1
12 glutathione catabolic process GO:0006751 9.59 GGT1 GGT3P
13 leukotriene D4 biosynthetic process GO:1901750 9.58 GGT1 GGT3P
14 thyroid hormone transport GO:0070327 9.58 ABCC2 SLCO1B1
15 response to lipid GO:0033993 9.58 NR1H4 NR1I2 NR1I3
16 xenobiotic transport GO:0042908 9.57 ABCB4 NR1I2
17 lipid homeostasis GO:0055088 9.56 ABCB4 NR1H4 NR1I2 NR1I3
18 drug export GO:0046618 9.55 ABCB4 NR1I2
19 response to antineoplastic agent GO:0097327 9.54 ABCB4 ABCC2
20 canalicular bile acid transport GO:0015722 9.51 ABCB11 ABCC2
21 phospholipid translocation GO:0045332 9.5 ABCB4 ATP8B1 TMEM30A
22 aminophospholipid transport GO:0015917 9.49 ATP8B1 TMEM30A
23 aromatic compound biosynthetic process GO:0019438 9.46 NR1I2 NR1I3
24 heterocycle biosynthetic process GO:0018130 9.37 NR1I2 NR1I3
25 drug transmembrane transport GO:0006855 9.26 ABCB4 ABCC2 ATP8B1 TMEM30A
26 bile acid and bile salt transport GO:0015721 9.1 ABCB11 ATP8B1 NR1H4 SLC10A2 SLCO1A2 SLCO1B1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 9.69 NR1H4 NR1I2 NR1I3
2 ligand-dependent nuclear receptor transcription coactivator activity GO:0030374 9.65 NR1H4 NR1I2 NR1I3
3 steroid hormone receptor activity GO:0003707 9.63 NR1H4 NR1I2 NR1I3
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.61 ABCB11 ABCB4 ABCC2
5 bile acid transmembrane transporter activity GO:0015125 9.52 SLCO1A2 SLCO1B1
6 nuclear receptor activity GO:0004879 9.5 NR1H4 NR1I2 NR1I3
7 glutathione hydrolase activity GO:0036374 9.49 GGT1 GGT3P
8 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.43 NR1H4 NR1I2 NR1I3
9 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.4 GGT1 GGT3P
10 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.37 GGT1 GGT3P
11 aminophospholipid transmembrane transporter activity GO:0015247 9.16 ATP8B1 TMEM30A
12 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.13 NR1H4 NR1I2 NR1I3
13 thyroid hormone receptor activity GO:0004887 8.8 NR1H4 NR1I2 NR1I3

Sources for Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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