MCID: INT001
MIFTS: 56

Intrahepatic Cholestasis

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

Aliases & Classifications for Intrahepatic Cholestasis

MalaCards integrated aliases for Intrahepatic Cholestasis:

Name: Intrahepatic Cholestasis 12 29 14 69
Intrahepatic Cholestasis of Pregnancy 12 50 25 56
Recurrent Intrahepatic Cholestasis of Pregnancy 50 25 56
Pregnancy-Related Cholestasis 50 25 56
Gravidic Intrahepatic Cholestasis 50 56
Familial Recurrent Intrahepatic Cholestasis of Pregnancy 50
Familial Intrahepatic Cholestasis of Pregnancy 50
Cholestasis, Intrahepatic of Pregnancy 50
Pregnancy Related Cholestasis 50
Cholestasis, Intrahepatic 42
Cholestasis Intrahepatic 52
Cholestasis of Pregnancy 69
Obstetric Cholestasis 25
Ricp 50
Icp 50

Characteristics:

Orphanet epidemiological data:

56
intrahepatic cholestasis of pregnancy
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:1852
MeSH 42 D002780
NCIt 47 C84400
SNOMED-CT 64 4637005
Orphanet 56 ORPHA69665
MESH via Orphanet 43 C535932
ICD10 via Orphanet 34 O26.6
UMLS 69 C0008372

Summaries for Intrahepatic Cholestasis

NIH Rare Diseases : 50 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. last updated: 3/15/2016

MalaCards based summary : Intrahepatic Cholestasis, also known as intrahepatic cholestasis of pregnancy, is related to cholestasis, benign recurrent intrahepatic, 2 and cholestasis, intrahepatic, of pregnancy, 1, 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 Sorbitol and Coconut have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

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 2 Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
Cholestasis, Progressive Familial Intrahepatic, 5 Cholestasis, Progressive Familial Intrahepatic 1
Cholestasis, Benign Recurrent Intrahepatic Abcb11-Related Intrahepatic Cholestasis
Atp8b1-Related Intrahepatic Cholestasis 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 107)
id Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 33.6 ABCB11 ABCB4 ATP8B1 NR1H4
2 cholestasis, intrahepatic, of pregnancy, 1 33.2 ABCB11 ATP8B1
3 cholestasis, benign recurrent intrahepatic 32.8 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 NR1H4
4 cholestasis, intrahepatic, of pregnancy, 3 32.0 ABCB11 ABCB4 ATP8B1 JAG1
5 eclampsia 27.1 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HSD3B7
6 low gamma-gt familial intrahepatic cholestasis 12.2
7 cholestasis, progressive familial intrahepatic 1 12.0
8 abcb11-related intrahepatic cholestasis 11.9
9 atp8b1-related intrahepatic cholestasis 11.9
10 myo5b-related progressive familial intrahepatic cholestasis 11.9
11 citrullinemia, type ii, neonatal-onset 11.9
12 cholestasis, progressive familial intrahepatic 3 11.8
13 cholestasis, progressive familial intrahepatic 2 11.7
14 bile acid synthesis defect, congenital, 4 11.7
15 bile acid synthesis defect, congenital, 1 11.7
16 cholestasis, progressive familial intrahepatic 4 11.2
17 cholestasis 11.2
18 bile acid synthesis defect, congenital, 2 11.1
19 cholestasis, progressive familial intrahepatic, 5 11.0
20 north american indian childhood cirrhosis 11.0
21 gallbladder disease 1 11.0
22 gilbert syndrome 11.0
23 citrullinemia, adult-onset type ii 11.0
24 bile acid synthesis defect, congenital, 3 11.0
25 crigler-najjar syndrome, type ii 11.0
26 alport syndrome and thin basement membrane nephropathy 10.7 ABCB11 ATP8B1 NR1H4
27 paranasal sinus sarcoma 10.5 GGT1 SLC17A5 SLC25A13
28 isthmus cancer 10.5 ABCB11 ABCB4 GGT1
29 erythroleukemia, familial 10.5 GGT1 JAG1
30 acute cholangitis 10.5 ABCB11 ABCB4 NR1I2
31 cardiomyopathy, dilated, 1o 10.5 ABCC2 SLCO1B1
32 hepatitis 10.4
33 microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 10.4 ABCB4 GGT1 NR1I2
34 campylobacteriosis 10.4 ABCB4 ABCC2 GGT1 SLCO1A2
35 bardet-biedl syndrome 6 10.3 ABCB11 ABCB4 ATP8B1 JAG1
36 gastroparesis 10.3 HLA-G SLC10A2
37 glandular cystitis 10.3 NR1I3 SLCO1B1 UTP4
38 tuberculum sellae meningioma 10.2 ABCB11 GGT1 NR1I2
39 liver disease 10.2
40 amyloidosis 10.2
41 pancreatitis 10.1
42 pyelitis 10.1 ABCC2 GGT1 NR1I3 SLCO1B1
43 patent foramen ovale 10.1 ABCB11 JAG1 NR1H4 SLC10A2
44 prostate cancer, progression and metastasis of 10.0 ABCB4 GGT1 NR1H4
45 hepatitis c 10.0
46 sickle cell disease 10.0
47 hypoxia 9.9
48 biliary atresia 9.9
49 lymphoblastic lymphoma 9.9 ABCB11 ABCB4 ATP8B1 GGT1 HSD3B7 NR1H4
50 pre-eclampsia 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
id 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 HLA-G NR1H4
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 GGT3P GGT1
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 GGT3P GGT1
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 GGT3P HLA-G NR1H4 GGT1
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

MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 SLC10A2 SLC17A5 SLC25A13 ABCB11 ABCB4 ATP8B1
2 homeostasis/metabolism MP:0005376 10.03 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 GGT1
3 liver/biliary system MP:0005370 9.7 NR1H4 NR1I2 NR1I3 SLC10A2 SLC25A13 ABCB11
4 mortality/aging MP:0010768 9.4 ABCB11 ATP8B1 ENPP2 GGT1 HSD3B7 JAG1

Drugs & Therapeutics for Intrahepatic Cholestasis

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

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorbitol Approved Phase 4 50-70-4 5780
2 Coconut Approved, Nutraceutical Phase 4
3 Tocopherol Approved, Nutraceutical Phase 4
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
5 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
6 Pharmaceutical Solutions Phase 4,Phase 2
7 Cathartics Phase 4
8 Fat Emulsions, Intravenous Phase 4
9 Laxatives Phase 4
10 Parenteral Nutrition Solutions Phase 4
11 Tocopherols Phase 4
12 Tocotrienols Phase 4
13 Olive Nutraceutical Phase 4
14 Soy Bean Nutraceutical Phase 4
15 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
16
Ursodeoxycholic acid Approved, Investigational Phase 3,Phase 2 128-13-2 31401
17
Ethanol Approved Phase 3 64-17-5 702
18
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
19
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
20 Cholagogues and Choleretics Phase 3,Phase 2
21 Liver Extracts Phase 3,Phase 2
22 Hypoglycemic Agents Phase 2, Phase 3
23 Bile Acids and Salts Phase 2
24 Anticholesteremic Agents Phase 1
25 Antimetabolites Phase 1
26 Cholestyramine Resin Phase 1
27 Hypolipidemic Agents Phase 1
28 Lipid Regulating Agents Phase 1
29 Cola Nutraceutical Phase 1
30
Pancrelipase Approved 53608-75-6
31
Iron Approved 7439-89-6 23925
32 Estrogens
33 Hormones Early Phase 1
34 Alpha 1-Antitrypsin
35 Protein C Inhibitor
36 pancreatin
37
Bilirubin 635-65-4 5280352
38 Hematinics

Interventional clinical trials:

(show all 27)

id Name Status NCT ID Phase Drugs
1 Reduction of Neonatal Parenteral Nutrition Associated Cholestasis Through Lipid Emulsions Terminated NCT02633384 Phase 4
2 Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
3 Study With Heptral in Subjects With Liver Disease Due to Alcohol Consumption Completed NCT02200029 Phase 3 Ademetionine IV+tablet;Ademetionine tablet
4 Metformin in Intrahepatic Cholestasis of Pregnancy Not yet recruiting NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
5 Ursodeoxycholic Acid And Cholestasis Of Pregnancy Withdrawn NCT01226823 Phase 3 Ursodeoxycholic Acid;Placebo
6 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of Repeat Doses of GSK2330672 Administration in Subjects With Primary Biliary Cirrhosis (PBC) and Symptoms of Pruritus Completed NCT01899703 Phase 2 GSK2330672;Placebo;Ursodeoxycholic acid
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 Second-line Therapy of Unresectable Cholangiocarcinoma by RADIOEMBOLIZATION Terminated NCT01383746 Phase 1, Phase 2
9 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
10 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
11 Il-17 Levels in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01898832
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 Impact of Cyclic Prolonged Parenteral Nutrition in Neonates Completed NCT02692326
19 Role of Complete Blood Picture in Predicting the Etiology of Extrahepatic Cholestasis Completed NCT03237247
20 Serum Autotaxin Levels in Cholestasis of Pregnancy Recruiting NCT02480478
21 The Metabolic Profile in Intrahepatic Cholestasis of Pregnancy and Diabetes Mellitus Recruiting NCT01499524 Early Phase 1
22 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
23 White Adipose Tissue in Pregnancy Study Recruiting NCT02495987
24 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
25 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
26 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
27 The Use of Fish Oil Supplementation in Treatment of Intrahepatic Cholestasis of Pregnancy Withdrawn NCT01965054

Search NIH Clinical Center for Intrahepatic Cholestasis

Cochrane evidence based reviews: cholestasis, intrahepatic

Genetic Tests for Intrahepatic Cholestasis

Genetic tests related to Intrahepatic Cholestasis:

id Genetic test Affiliating Genes
1 Intrahepatic Cholestasis 29

Anatomical Context for Intrahepatic Cholestasis

MalaCards organs/tissues related to Intrahepatic Cholestasis:

39
Liver, Skin, Eye, Placenta, Testes, Heart, Appendix

Publications for Intrahepatic Cholestasis

Articles related to Intrahepatic Cholestasis:

(show top 50) (show all 813)
id Title Authors Year
1
Bile acid levels and risk of adverse perinatal outcomes in intrahepatic cholestasis of pregnancy: A meta-analysis. ( 28691322 )
2017
2
A retrospective cohort review of intrahepatic cholestasis of pregnancy in a South Australian population. ( 28926728 )
2017
3
Inhibition of JNK signalling mediates PPARI+-dependent protection against intrahepatic cholestasis by fenofibrate. ( 28646549 )
2017
4
Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis. ( 28073941 )
2017
5
Sickle cell intrahepatic cholestasis unresponsive to exchange blood transfusion: a case report. ( 28577654 )
2017
6
Outcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis. ( 27916445 )
2017
7
Urinary metabolomic analysis of intrahepatic cholestasis of pregnancy based on high performance liquid chromatography/mass spectrometry. ( 28669684 )
2017
8
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28923092 )
2017
9
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V). ( 28937026 )
2017
10
Intrahepatic Cholestasis of Pregnancy Leading to Severe Vitamin K Deficiency and Coagulopathy. ( 28680707 )
2017
11
Living Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Two Reported Cases. ( 28583540 )
2017
12
miR-148a-mediated estrogen-induced cholestasis in intrahepatic cholestasis of pregnancy: Role of PXR/MRP3. ( 28575098 )
2017
13
Effect of intrahepatic cholestasis of pregnancy on neonatal birth weight: a meta-analysis. ( 28825589 )
2017
14
Perinatal outcomes associated with intrahepatic cholestasis of pregnancy(). ( 28581354 )
2017
15
Two cases of first onset intrahepatic cholestasis of pregnancy associated with moderate ovarian hyperstimulation syndrome after IVF treatment and review of the literature. ( 28319428 )
2017
16
Molecular Mechanism of Taurocholate Transport by the Bile Salt Export Pump, an ABC Transporter Associated with Intrahepatic Cholestasis. ( 28784620 )
2017
17
Identification of Matrix Metalloproteinase-2 and 9 as Biomarker of Intrahepatic Cholestasis of Pregnancy. ( 28233754 )
2017
18
Ursodeoxycholic acid therapy in intrahepatic cholestasis of pregnancy: Results in real-world conditions and factors predictive of response to treatment. ( 27825922 )
2017
19
Sensitivity and Specificity of Biochemical Tests for Diagnosis of Intrahepatic Cholestasis of Pregnancy. ( 28611260 )
2017
20
Interventions for treating intrahepatic cholestasis in people with sickle cell disease. ( 28759700 )
2017
21
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. ( 28924228 )
2017
22
Effect of Histone Deacetylase HDAC3 on Cytokines IL-18, IL-12 and TNF-I+ in Patients with Intrahepatic Cholestasis of Pregnancy. ( 28697498 )
2017
23
Maternal copeptin levels in intrahepatic cholestasis of pregnancy. ( 28552021 )
2017
24
Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report. ( 28838453 )
2017
25
Ursodeoxycholic Acid Ameliorates Intrahepatic Cholestasis Independent of Biliary Bicarbonate Secretion in Vil2(kd/kd) Mice. ( 28049946 )
2017
26
Hepatic Tmem30a deficiency causes intrahepatic cholestasis by impairing expression and localization of bile salt transporters. ( 28919113 )
2017
27
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. ( 26888176 )
2016
28
The effect of 17I+-ethynylestradiol induced intrahepatic cholestasis of pregnancy on placental P-glycoprotein in mice: Implications in the individualized transplacental digoxin treatment for fetal heart failure. ( 27452443 )
2016
29
Effects of andrographolide on intrahepatic cholestasis induced by alpha-naphthylisothiocyanate in rats. ( 27475677 )
2016
30
Severe First Trimester Recurrent Intrahepatic Cholestasis of Pregnancy: A Case Report and Literature Review. ( 26929868 )
2016
31
Interleukin 31 is involved in intrahepatic cholestasis of pregnancy. ( 27406853 )
2016
32
Intrahepatic cholestasis of pregnancy (ICP): case report and review of the literature. ( 27936482 )
2016
33
Mitochondrial gene expression profiles are associated with intrahepatic cholestasis of pregnancy. ( 27577705 )
2016
34
The risk of infant and fetal death by each additional week of expectant management in intrahepatic cholestasis of pregnancy by gestational age: variousA objections. ( 27448733 )
2016
35
Alanine aminotransferase as a predictor of adverse perinatal outcomes in women with intrahepatic cholestasis of pregnancy. ( 27182252 )
2016
36
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study. ( 27127784 )
2016
37
Heterozygous Inactivation of the Nuclear Receptor PXR/NR1I2 in a Patient With Anabolic Steroid-Induced Intrahepatic Cholestasis. ( 27799961 )
2016
38
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis. ( 28064265 )
2016
39
Is ursodeoxycholic acid effective for intrahepatic cholestasis of pregnancy? ( 26817509 )
2016
40
Bile acids evoke placental inflammation by activating Gpbar1/NF-I_B pathway in intrahepatic cholestasis of pregnancy. ( 27402811 )
2016
41
Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis? ( 26699824 )
2016
42
A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter. ( 26796082 )
2016
43
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. ( 27932171 )
2016
44
Resveratrol reduces matrix metalloproteinases and alleviates intrahepatic cholestasis of pregnancy in rats. ( 26913826 )
2016
45
Maternal liver elasticity determined by acoustic radiation force impulse elastosonography in intrahepatic cholestasis of pregnancy. ( 28039538 )
2016
46
Early induction of labor in high-risk intrahepatic cholestasis of pregnancy: what are the costs? ( 26825731 )
2016
47
Hepatitis C infection and intrahepatic cholestasis of pregnancy: A systematic review and meta-analysis. ( 27542514 )
2016
48
Cytomegalovirus may mimic the presentation of intrahepatic cholestasis and hemolysis, elevated liver enzymes and low platelets in immunosuppressed pregnant women. ( 27630751 )
2016
49
A Comprehensive Evaluation of Steroid Metabolism in Women with Intrahepatic Cholestasis of Pregnancy. ( 27494119 )
2016
50
Intrahepatic Cholestasis of Pregnancy with Severe Elevation of Bile Acids in the Setting of Acute Hepatitis C Infection. ( 27891271 )
2016

Variations for Intrahepatic Cholestasis

ClinVar genetic disease variations for Intrahepatic Cholestasis:

6
id 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

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)
id 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
11.63 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 10.59 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:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.63 ABCB4 ABCC2 ATP8B1 JAG1 SLC10A2 TMEM30A
2 apical part of cell GO:0045177 9.58 ABCB11 ABCB4 JAG1
3 brush border membrane GO:0031526 9.5 ABCB4 ABCC2 ATP8B1
4 integral component of plasma membrane GO:0005887 9.32 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 JAG1
5 intercellular canaliculus GO:0046581 9.13 ABCB11 ABCB4 ABCC2
6 membrane GO:0016020 10.31 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 GGT1
7 plasma membrane GO:0005886 10.18 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 GGT1
8 integral component of membrane GO:0016021 10.16 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 GGT1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.88 ABCB11 ABCB4 ABCC2 SLC10A2 SLC17A5 SLC25A13
2 transport GO:0006810 9.85 ABCB11 ABCB4 ABCC2 ATP8B1 SLC10A2 SLC17A5
3 lipid transport GO:0006869 9.75 ABCB4 ATP8B1 TMEM30A
4 steroid hormone mediated signaling pathway GO:0043401 9.67 NR1H4 NR1I2 NR1I3
5 intracellular receptor signaling pathway GO:0030522 9.61 NR1H4 NR1I2 NR1I3
6 glutathione biosynthetic process GO:0006750 9.57 GGT1 GGT3P
7 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.56 ABCB11 ABCC2
8 bile acid metabolic process GO:0008206 9.55 ATP8B1 NR1H4
9 glutathione catabolic process GO:0006751 9.54 GGT1 GGT3P
10 xenobiotic transport GO:0042908 9.52 ABCB4 NR1I2
11 thyroid hormone transport GO:0070327 9.51 ABCC2 SLCO1B1
12 phospholipid translocation GO:0045332 9.5 ABCB4 ATP8B1 TMEM30A
13 drug export GO:0046618 9.48 ABCB4 NR1I2
14 response to antineoplastic agent GO:0097327 9.46 ABCB4 ABCC2
15 organic anion transport GO:0015711 9.43 ABCC2 SLCO1A2 SLCO1B1
16 canalicular bile acid transport GO:0015722 9.37 ABCB11 ABCC2
17 drug transmembrane transport GO:0006855 9.26 ABCB4 ABCC2 ATP8B1 TMEM30A
18 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:

id Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.43 NR1H4 NR1I2 NR1I3
2 organic anion transmembrane transporter activity GO:0008514 9.4 ABCC2 SLCO1A2
3 bile acid transmembrane transporter activity GO:0015125 9.37 SLCO1A2 SLCO1B1
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.33 ABCB11 ABCB4 ABCC2
5 glutathione hydrolase activity GO:0036374 9.32 GGT1 GGT3P
6 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.13 NR1H4 NR1I2 NR1I3
7 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....