MCID: INT001
MIFTS: 62

Intrahepatic Cholestasis

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

Aliases & Classifications for Intrahepatic Cholestasis

MalaCards integrated aliases for Intrahepatic Cholestasis:

Name: Intrahepatic Cholestasis 12 28 14 69
Intrahepatic Cholestasis of Pregnancy 12 49 24 55
Recurrent Intrahepatic Cholestasis of Pregnancy 49 24 55
Pregnancy-Related Cholestasis 49 24 55
Gravidic Intrahepatic Cholestasis 49 55
Cholestasis of Pregnancy 69 28
Familial Recurrent Intrahepatic Cholestasis of Pregnancy 49
Familial Intrahepatic Cholestasis of Pregnancy 49
Cholestasis, Intrahepatic of Pregnancy 49
Pregnancy Related Cholestasis 49
Cholestasis, Intrahepatic 41
Cholestasis Intrahepatic 51
Obstetric Cholestasis 24
Ricp 49
Icp 49

Characteristics:

Orphanet epidemiological data:

55
intrahepatic cholestasis of pregnancy
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:1852
MeSH 41 D002780
NCIt 46 C84400
SNOMED-CT 64 4637005
Orphanet 55 ORPHA69665
MESH via Orphanet 42 C535932
ICD10 via Orphanet 33 O26.6

Summaries for Intrahepatic Cholestasis

NIH Rare Diseases : 49 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, 1 and cholestasis, progressive familial intrahepatic, 2, and has symptoms including pruritus of pregnancy, hepatocellular jaundice and icterus. 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 : 24 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

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

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 1 34.2 ABCB11 ATP8B1
2 cholestasis, progressive familial intrahepatic, 2 33.9 ABCB11 ABCB4 ATP8B1
3 cholestasis, progressive familial intrahepatic, 3 33.6 ABCB11 ABCB4 ATP8B1 JAG1
4 bile acid synthesis defect, congenital, 1 33.4 HSD3B7 TJP2
5 cholestasis, progressive familial intrahepatic, 1 33.1 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 NR1H4
6 atp8b1 deficiency 32.4 ABCB11 ATP8B1 NR1H4
7 alagille syndrome 1 30.5 ABCB4 ATP8B1 JAG1
8 liver disease 30.3 ABCB11 ABCB4 ATP8B1 GGT1 HSD3B7 NR1H4
9 sclerosing cholangitis 30.2 ABCB11 ABCB4 NR1I2
10 biliary atresia 30.2 JAG1 NR1H4 SLC10A2
11 cholangitis 30.1 ABCB11 ABCB4 GGT1
12 extrahepatic cholestasis 30.1 ABCB4 ABCC2 GGT1 SLCO1A2
13 bilirubin metabolic disorder 29.8 ABCC2 GGT1 NR1I3 SLCO1B1
14 cholestasis 29.6 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HSD3B7
15 citrullinemia, type ii, neonatal-onset 12.2
16 cholestasis, benign recurrent intrahepatic, 2 12.1
17 myo5b-related progressive familial intrahepatic cholestasis 12.1
18 cholestasis, intrahepatic, of pregnancy, 1 11.9
19 bile acid synthesis defect, congenital, 4 11.8
20 citrullinemia, type ii, adult-onset 11.5
21 cholestasis, progressive familial intrahepatic, 4 11.3
22 bile acid synthesis defect, congenital, 2 11.2
23 cholestasis, progressive familial intrahepatic, 5 11.1
24 gilbert syndrome 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 hepatitis 10.5
31 biliary atresia, extrahepatic 10.4 GGT1 JAG1
32 obstructive jaundice 10.4 GGT1 SLC17A5 SLC25A13
33 cholangitis, primary sclerosing 10.3 ABCB4 GGT1 NR1I2
34 amyloidosis 10.3
35 neonatal jaundice 10.2 NR1I3 SLCO1B1 UTP4
36 hyperbilirubinemia, rotor type 10.2 ABCC2 SLCO1B1
37 gastrointestinal system disease 10.2 ABCB11 GGT1 NR1I2
38 pancreatitis 10.2
39 hepatitis c 10.1
40 sickle cell disease 10.1
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
42 eclampsia 10.0
43 hypoxia 10.0
44 vaginal cancer 10.0 HLA-G SLC10A2
45 pheochromocytoma 9.9
46 dubin-johnson syndrome 9.9
47 myeloma, multiple 9.9
48 wilson disease 9.9
49 aging 9.9
50 sickle cell anemia 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:


pruritus of pregnancy, hepatocellular jaundice, icterus

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

25 (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 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 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 ABCB11 ABCB4 ATP8B1 GGT1 HSD3B7 JAG1
2 homeostasis/metabolism MP:0005376 10 SLC17A5 SLC25A13 ABCB11 ABCB4 ABCC2 ATP8B1
3 liver/biliary system MP:0005370 9.7 ABCB11 ABCB4 ABCC2 ATP8B1 HSD3B7 JAG1
4 mortality/aging MP:0010768 9.4 ABCB11 ATP8B1 GGT1 HSD3B7 JAG1 NR1H4

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 4091 14219
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
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 Hormones Early Phase 1
21 Alpha 1-Antitrypsin
22 Protein C Inhibitor
23 pancreatin
24
Bilirubin 635-65-4 5280352
25 Hematinics

Interventional clinical trials:

(show all 25)

# 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 Metformin in Intrahepatic Cholestasis of Pregnancy Not yet recruiting NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
4 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
5 Ursodeoxycholic Acid And Cholestasis Of Pregnancy Withdrawn NCT01226823 Phase 3 Ursodeoxycholic Acid;Placebo
6 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
7 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
8 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
9 Il-17 Levels in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01898832
10 P-wave Duration and Dispersion in Intrahepatic Cholestasis of Pregnancy Unknown status NCT01906827
11 Apoptosis May Have a Role in Etiopathogenesis of Obstetric Cholestasis. Unknown status NCT02192177
12 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
13 Induction of Labor in Intrahepatic Cholestasis of Pregnancy Completed NCT01381939
14 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
15 Cholestasis in Extreme Low Birth Weight Infants (ELBW) Completed NCT01164878
16 Impact of Cyclic Prolonged Parenteral Nutrition in Neonates Completed NCT02692326
17 Role of Complete Blood Picture in Predicting the Etiology of Extrahepatic Cholestasis Completed NCT03237247
18 Serum Autotaxin Levels in Cholestasis of Pregnancy Recruiting NCT02480478
19 The Metabolic Profile in Intrahepatic Cholestasis of Pregnancy and Diabetes Mellitus Recruiting NCT01499524 Early Phase 1
20 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
21 White Adipose Tissue in Pregnancy Study Recruiting NCT02495987
22 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
23 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
24 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
25 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:

# Genetic test Affiliating Genes
1 Cholestasis of Pregnancy 28 ATP8B1
2 Intrahepatic Cholestasis 28

Anatomical Context for Intrahepatic Cholestasis

MalaCards organs/tissues related to Intrahepatic Cholestasis:

38
Liver, Eye, Skin, Placenta, Testes, Heart, Appendix

Publications for Intrahepatic Cholestasis

Articles related to Intrahepatic Cholestasis:

(show top 50) (show all 835)
# Title Authors Year
1
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. ( 29191380 )
2018
2
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations. ( 29412511 )
2018
3
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
4
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low I^-glutamyltransferase. ( 29316097 )
2018
5
Does ursodeoxycholic acid improve perinatal outcomes in women with intrahepatic cholestasis of pregnancy? ( 29419378 )
2018
6
Open-label study of ademetionine for the treatment of intrahepatic cholestasis associated with alcoholic liver disease. ( 29431335 )
2018
7
Different effects of ursodeoxycholic acid on intrahepatic cholestasis in acute and recovery stages induced by alpha-naphthylisothiocyanate in mice. ( 29407775 )
2018
8
Molecular Mechanism of Taurocholate Transport by the Bile Salt Export Pump, an ABC Transporter Associated with Intrahepatic Cholestasis. ( 28784620 )
2017
9
Ursodeoxycholic Acid Ameliorates Intrahepatic Cholestasis Independent of Biliary Bicarbonate Secretion in Vil2(kd/kd) Mice. ( 28049946 )
2017
10
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28923092 )
2017
11
Outcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis. ( 27916445 )
2017
12
Intrahepatic Cholestasis of Pregnancy Leading to Severe Vitamin K Deficiency and Coagulopathy. ( 28680707 )
2017
13
Inhibition of JNK signalling mediates PPARI+-dependent protection against intrahepatic cholestasis by fenofibrate. ( 28646549 )
2017
14
Sensitivity and Specificity of Biochemical Tests for Diagnosis of Intrahepatic Cholestasis of Pregnancy. ( 28611260 )
2017
15
Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28982379 )
2017
16
Intrahepatic Cholestasis of Pregnancy Refractory to Multiple Medical Therapies and Plasmapheresis. ( 29250459 )
2017
17
Effect of intrahepatic cholestasis of pregnancy on neonatal birth weight: a meta-analysis. ( 28825589 )
2017
18
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. ( 28425419 )
2017
19
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V). ( 28937026 )
2017
20
Identification of Matrix Metalloproteinase-2 and 9 as Biomarker of Intrahepatic Cholestasis of Pregnancy. ( 28233754 )
2017
21
Maternal copeptin levels in intrahepatic cholestasis of pregnancy. ( 28552021 )
2017
22
Bile acid levels and risk of adverse perinatal outcomes in intrahepatic cholestasis of pregnancy: A meta-analysis. ( 28691322 )
2017
23
Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report. ( 28838453 )
2017
24
Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report. ( 29390323 )
2017
25
Correction to: Koroglu et al., Increased levels of the novel hepatokine fetuin B in patients with intrahepatic cholestasis of pregnancy. ( 29254409 )
2017
26
Balancing Medical and Non-Accidental Causes of Multiple Fractures in a Child with Progressive Familial Intrahepatic Cholestasis. ( 29118315 )
2017
27
Ursodeoxycholic acid therapy in intrahepatic cholestasis of pregnancy: Results in real-world conditions and factors predictive of response to treatment. ( 27825922 )
2017
28
Increased levels of the novel hepatokine fetuin B in patients with intrahepatic cholestasis of pregnancy. ( 29233036 )
2017
29
Sickle cell intrahepatic cholestasis unresponsive to exchange blood transfusion: a case report. ( 28577654 )
2017
30
A retrospective cohort review of intrahepatic cholestasis of pregnancy in a South Australian population. ( 28926728 )
2017
31
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected<i>SLC25A13</i>allele. ( 29152073 )
2017
32
Huangqi Decoction Alleviates Alpha-Naphthylisothiocyanate Induced Intrahepatic Cholestasis by Reversing Disordered Bile Acid and Glutathione Homeostasis in Mice. ( 29311939 )
2017
33
Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis. ( 28073941 )
2017
34
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
35
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
36
Hepatic Tmem30a deficiency causes intrahepatic cholestasis by impairing expression and localization of bile salt transporters. ( 28919113 )
2017
37
miR-148a-mediated estrogen-induced cholestasis in intrahepatic cholestasis of pregnancy: Role of PXR/MRP3. ( 28575098 )
2017
38
Living Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Two Reported Cases. ( 28583540 )
2017
39
Urinary metabolomic analysis of intrahepatic cholestasis of pregnancy based on high performance liquid chromatography/mass spectrometry. ( 28669684 )
2017
40
Intrahepatic cholestasis of pregnancy or azithromycin-induced intrahepatic cholestasis: A case report. ( 29384912 )
2017
41
Can we predict severity of intrahepatic cholestasis of pregnancy using inflammatory markers? ( 29085705 )
2017
42
Intrahepatic Cholestasis of Pregnancy: Spontaneous<i>vs in vitro</i>Fertilization. ( 29201793 )
2017
43
Perinatal outcomes associated with intrahepatic cholestasis of pregnancy(). ( 28581354 )
2017
44
Long-term outcomes of six patients after partial internal biliary diversion for progressive familial intrahepatic cholestasis. ( 29174177 )
2017
45
Effect of Histone Deacetylase HDAC3 on Cytokines IL-18, IL-12 and TNF-I+ in Patients with Intrahepatic Cholestasis of Pregnancy. ( 28697498 )
2017
46
Protective Effects of Ginsenosides on 17[Formula: see text]-Ethynyelstradiol-Induced Intrahepatic Cholestasis via Anti-Oxidative and Anti-Inflammatory Mechanisms in Rats. ( 29121800 )
2017
47
Interventions for treating intrahepatic cholestasis in people with sickle cell disease. ( 28759700 )
2017
48
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. ( 28924228 )
2017
49
Outcome after implementation of a modern management strategy for intrahepatic cholestasis of pregnancy. ( 27418248 )
2016
50
Early alterations of bile canaliculi dynamics and the ROCK/MLCK pathway are characteristics of drug-induced intrahepatic cholestasis. ( 27538918 )
2016

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

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
11.63 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:

# 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 9.58 ABCB11 ABCB4 JAG1
4 brush border membrane GO:0031526 9.5 ABCB4 ABCC2 ATP8B1
5 intercellular canaliculus GO:0046581 8.8 ABCB11 ABCB4 ABCC2
6 membrane GO:0016020 10.31 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HLA-G
7 plasma membrane GO:0005886 10.18 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 HLA-G
8 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 22)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.96 ABCB11 ABCB4 ABCC2 ATP8B1 SLC10A2 SLC17A5
2 lipid transport GO:0006869 9.78 ABCB4 ATP8B1 TMEM30A
3 transmembrane transport GO:0055085 9.76 ABCB11 ABCB4 ABCC2 SLC10A2 SLC17A5 SLC25A13
4 steroid hormone mediated signaling pathway GO:0043401 9.69 NR1H4 NR1I2 NR1I3
5 intracellular receptor signaling pathway GO:0030522 9.63 NR1H4 NR1I2 NR1I3
6 glutathione biosynthetic process GO:0006750 9.6 GGT1 GGT3P
7 intestinal absorption GO:0050892 9.59 ABCB4 TJP2
8 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.58 ABCB11 ABCC2
9 response to glucagon GO:0033762 9.58 ABCB4 ABCC2
10 bile acid metabolic process GO:0008206 9.57 ATP8B1 NR1H4
11 glutathione catabolic process GO:0006751 9.56 GGT1 GGT3P
12 leukotriene D4 biosynthetic process GO:1901750 9.55 GGT1 GGT3P
13 xenobiotic transport GO:0042908 9.54 ABCB4 NR1I2
14 phospholipid translocation GO:0045332 9.54 ABCB4 ATP8B1 TMEM30A
15 thyroid hormone transport GO:0070327 9.52 ABCC2 SLCO1B1
16 organic anion transport GO:0015711 9.5 ABCC2 SLCO1A2 SLCO1B1
17 response to antineoplastic agent GO:0097327 9.49 ABCB4 ABCC2
18 drug export GO:0046618 9.48 ABCB4 NR1I2
19 canalicular bile acid transport GO:0015722 9.43 ABCB11 ABCC2
20 aminophospholipid transport GO:0015917 9.4 ATP8B1 TMEM30A
21 drug transmembrane transport GO:0006855 9.26 ABCB4 ABCC2 ATP8B1 TMEM30A
22 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:

# Name GO ID Score Top Affiliating Genes
1 transporter activity GO:0005215 9.63 ABCB11 ABCC2 SLC25A13
2 steroid hormone receptor activity GO:0003707 9.54 NR1H4 NR1I2 NR1I3
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.5 ABCB11 ABCB4 ABCC2
4 organic anion transmembrane transporter activity GO:0008514 9.48 ABCC2 SLCO1A2
5 bile acid transmembrane transporter activity GO:0015125 9.43 SLCO1A2 SLCO1B1
6 glutathione hydrolase activity GO:0036374 9.4 GGT1 GGT3P
7 nuclear receptor activity GO:0004879 9.33 NR1H4 NR1I2 NR1I3
8 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.26 GGT1 GGT3P
9 aminophospholipid transmembrane transporter activity GO:0015247 8.96 ATP8B1 TMEM30A
10 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
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