MCID: CHL068
MIFTS: 61

Cholestasis

Categories: Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Cholestasis

MalaCards integrated aliases for Cholestasis:

Name: Cholestasis 12 75 29 55 6 44 15 72
Obstruction of Bile Duct 12 33
Bile Duct Obstruction 55
Bile Occlusion 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13580
ICD9CM 35 576.2
MeSH 44 D002779
NCIt 50 C83006
SNOMED-CT 68 30144000 33688009
ICD10 33 K83.1
UMLS 72 C0008370

Summaries for Cholestasis

MalaCards based summary : Cholestasis, also known as obstruction of bile duct, is related to cholestasis, progressive familial intrahepatic, 2 and cholestasis, progressive familial intrahepatic, 3, and has symptoms including icterus and jaundice (not of newborn). An important gene associated with Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Metabolism and Synthesis of bile acids and bile salts. The drugs Tacrolimus and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are no effect and growth/size/body region

Wikipedia : 75 Cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two basic... more...

Related Diseases for Cholestasis

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

(show top 50) (show all 824)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 2 34.8 NR1H4 ATP8B1 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 3 34.7 JAG1 ATP8B1 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 4 34.7 TJP2 ATP8B1 ABCB4 ABCB11
4 arthrogryposis, renal dysfunction, and cholestasis 1 34.7 VPS33B VIPAS39
5 cholestasis, progressive familial intrahepatic, 5 34.3 NR1I3 NR1I2 NR1H4
6 cholestasis, benign recurrent intrahepatic, 2 34.3 ATP8B1 ABCB11
7 cholestasis, benign recurrent intrahepatic, 1 34.2 SLC10A2 SLC10A1 ATP8B1 ABCB11
8 alagille syndrome 1 33.8 JAG1 ATP8B1 ABCB4 ABCB11
9 cholestasis, progressive familial intrahepatic, 1 33.7 SLC10A2 NR1H4 JAG1 ATP8B1 ABCB4 ABCB11
10 progressive familial intrahepatic cholestasis 33.3 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
11 atp8b1 deficiency 33.2 NR1H4 ATP8B1 ABCB11
12 biliary atresia, extrahepatic 32.8 JAG1 GGT1
13 extrahepatic cholestasis 32.4 GPT GGT1 CYP7A1 ABCC3 ABCC2 ABCB4
14 cholangitis, primary sclerosing 32.4 NR1I2 GPT GGT1 ABCB4
15 dubin-johnson syndrome 32.1 ABCC4 ABCC3 ABCC2
16 cerebrotendinous xanthomatosis 31.6 NR1I2 NR1H4 CYP7A1
17 cholangitis 31.6 GPT GGT1 ABCB4 ABCB11
18 biliary atresia 31.5 SLC10A2 SLC10A1 NR1H4 JAG1 GPT ATP8B1
19 obstructive jaundice 31.3 SLC25A13 GPT GGT1
20 intrahepatic cholestasis of pregnancy 31.2 SLC25A13 SLC10A2 SLC10A1 NR1I3 NR1I2 NR1H4
21 sclerosing cholangitis 31.1 NR1I2 NR1H4 GGT1 ABCB4 ABCB11
22 bilirubin metabolic disorder 31.0 NR1I3 GPT GGT1 ABCC2
23 liver disease 30.9 SLC25A13 NR1H4 HSD3B7 GPT GGT1 ATP8B1
24 cholelithiasis 30.2 NR1H4 GPT CYP7A1 ABCB4
25 biliary tract disease 25.6 SLC25A13 SLC10A2 SLC10A1 NR1I3 NR1I2 NR1H4
26 bile duct disease 25.5 SLC25A13 SLC10A2 SLC10A1 NR1I2 NR1H4 GPT
27 cholestasis, intrahepatic, of pregnancy, 1 12.7
28 cholestasis, intrahepatic, of pregnancy 3 12.7
29 cholestasis-lymphedema syndrome 12.7
30 arthrogryposis, renal dysfunction, and cholestasis 2 12.6
31 familial intrahepatic cholestasis 12.4
32 citrullinemia, type ii, neonatal-onset 12.3
33 gracile syndrome 12.3
34 myo5b-related progressive familial intrahepatic cholestasis 12.2
35 cholestasis with gallstone, ataxia, and visual disturbance 12.2
36 bile acid synthesis defect, congenital, 1 12.2
37 bile acid synthesis defect, congenital, 4 12.1
38 bile acid synthesis defect with cholestasis and malabsorption 12.1
39 obsolete: hepatic amyloidosis with intrahepatic cholestasis 12.1
40 bile acid synthesis defect, congenital, 2 12.0
41 alagille syndrome 2 11.9
42 hyperbiliverdinemia 11.6
43 gallbladder disease 1 11.6
44 hardikar syndrome 11.6
45 diarrhea 2, with microvillus atrophy 11.5
46 north american indian childhood cirrhosis 11.5
47 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.5
48 primary biliary cholangitis 11.5
49 primary biliary cirrhosis 11.5
50 citrullinemia, type ii, adult-onset 11.4

Comorbidity relations with Cholestasis via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Acute Pancreatitis Cholangitis
Cholecystitis Deficiency Anemia
Duodenum Cancer Esophagitis
Gallbladder Cancer Gastrointestinal System Cancer
Intrahepatic Gall Duct Cancer Pancreatic Agenesis 1
Pancreatic Cancer Pancreatitis, Hereditary
Paralytic Ileus Protein-Energy Malnutrition

Graphical network of the top 20 diseases related to Cholestasis:



Diseases related to Cholestasis

Symptoms & Phenotypes for Cholestasis

UMLS symptoms related to Cholestasis:


icterus, jaundice (not of newborn)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ATP8B1

MGI Mouse Phenotypes related to Cholestasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 ABCB11 ABCB4 ABCC4 ATP8B1 CYP7A1 GGT1
2 homeostasis/metabolism MP:0005376 10.16 ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ATP8B1
3 digestive/alimentary MP:0005381 9.91 ABCB4 ABCC4 CYP7A1 HSD3B7 JAG1 NR1H4
4 integument MP:0010771 9.81 ABCC3 ABCC4 CYP7A1 GGT1 HSD3B7 JAG1
5 liver/biliary system MP:0005370 9.77 ABCB11 ABCB4 ABCC2 ABCC3 ATP8B1 CYP7A1
6 mortality/aging MP:0010768 9.44 ABCB11 ABCC4 ATP8B1 CYP7A1 GGT1 HSD3B7

Drugs & Therapeutics for Cholestasis

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

(show top 50) (show all 231)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2
Mycophenolic acid Approved Phase 4 24280-93-1 446541
3
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
4
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
5
Glycerol Approved, Investigational Phase 4 56-81-5 753
6
Ofloxacin Approved Phase 4 82419-36-1 4583
7
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
8
Sorbitol Approved Phase 4 50-70-4 5780
9
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
10 Coconut Approved Phase 4
11
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
12
Ribavirin Approved Phase 4 36791-04-5 37542
13
Choline Approved, Nutraceutical Phase 4 62-49-7 305
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
15 Tocotrienol Investigational Phase 4 6829-55-6
16 Nootropic Agents Phase 4
17 Polyene phosphatidylcholine Phase 4
18 Ulipristal acetate Phase 4 126784-99-4
19 Immunosuppressive Agents Phase 4
20 Immunologic Factors Phase 4
21 Antibodies Phase 4
22 Immunoglobulins Phase 4
23 Estrogens Phase 4
24 Hormones Phase 4
25 gamma-Globulins Phase 4
26 Immunoglobulins, Intravenous Phase 4
27 Rho(D) Immune Globulin Phase 4
28 Calcineurin Inhibitors Phase 4
29 Hormone Antagonists Phase 4
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
31 diuretics Phase 4
32 Natriuretic Agents Phase 4
33 Sodium Potassium Chloride Symporter Inhibitors Phase 4
34 Estrogens, Conjugated (USP) Phase 4
35 Protective Agents Phase 4
36 Anti-Bacterial Agents Phase 4
37 Antibiotics, Antitubercular Phase 4
38 Topoisomerase Inhibitors Phase 4
39 Cytochrome P-450 Enzyme Inhibitors Phase 4
40 Cytochrome P-450 CYP1A2 Inhibitors Phase 4
41 Renal Agents Phase 4
42 Antitubercular Agents Phase 4
43 Anti-Infective Agents, Urinary Phase 4
44 Anti-Infective Agents Phase 4
45 Antiviral Agents Phase 4
46 Antimetabolites Phase 4
47 Gastrointestinal Agents Phase 4
48 Liver Extracts Phase 4
49 Phytosterol Phase 4
50 Cathartics Phase 4

Interventional clinical trials:

(show top 50) (show all 305)
# Name Status NCT ID Phase Drugs
1 Uncovered Self-expandable Metal Stent Versus DoubleLayer Plastic Stent for Malignant Hilar Stricture: a Prospective Randomized Multicenter Trial Unknown status NCT01125865 Phase 4
2 Efficacy and Safety of S-adenosyl-L-methionine in Treatment of Chronic Hepatitis B Patients With Cholestasis Unknown status NCT01998620 Phase 4 Ademetionine 2;Ademetionine 1;Ademetionine 3
3 Efficacy and Safety of S-adenosyl-l-methionine in Treatment of Alcoholic Hepatitis With Cholestasis Unknown status NCT02024295 Phase 4 Ademethionine;Polyene Phosphatidyl choline;Ademethionine
4 Hepatic Function and Bile Acid in Preterm Infants Receiving Parenteral Lipids Emulsion Unknown status NCT01786759 Phase 4 ClinOleic;Intralipid
5 Covered Versus Uncovered Metal Stents for Management of Distal Malignant Biliary Obstruction? Results of a Randomized Prospective Study. Completed NCT00280709 Phase 4
6 Pilot Study on the Usefulness of Endoscopic Ultrasound-guided Biliary Drainage With a Newly Designed Hybrid Metallic Stent Completed NCT01862198 Phase 4
7 Prospective Randomized Trial Comparing Covered Metal Stents Placed Above and Across the Sphincter of Oddi in Malignant Biliary Obstruction: A Multi-nation, Multi-center Study Completed NCT01041612 Phase 4
8 RCT Steel (Wallstent®) vs Nitinol (Wallflex®) Bile Duct Stent for Palliation of Malignant Obstruction Completed NCT00980889 Phase 4
9 Re-intervention for Occluded Biliary Metal Stent in Malignant Distal Bile Duct Obstruction: a Prospective Randomized Multi-center Trial Comparing Covered and Uncovered Metal Stent Completed NCT01315522 Phase 4
10 The Preventative and Therapeutical Effect of Ursodeoxycholic Acid(UDCA) to Parenteral Nutrition-associated Cholestasis in Short Bowel Syndrome Completed NCT01974336 Phase 4 ursodeoxycholic acid
11 Preventing Cholestasis in Premature Infants Using SMOFLipid® Completed NCT01585935 Phase 4 SMOFLIPID;INTRALIPID
12 Pilot Study: Hepatoprotective Role of SMOFlipid® Used in Short-term Parenteral Nutrition in an Onco-Hematology Pediatric Population Completed NCT02539316 Phase 4 Smoflipid;Médialipides
13 Antegrade Arterial and Portal Flushing Versus Portal Flushing Only of the Liver Graft in Living Donor Liver Transplantation and Its Effects on Biliary Complications and Graft Function: A Randomized Control Study Completed NCT03048318 Phase 4
14 Effect of Different Enteral Nutrition Formulas on Glucose Homeostasis Completed NCT03012867 Phase 4
15 Effectiveness of S-adenosyl-L-methionine in Patients With Primary Biliary Cirrhosis Completed NCT02557360 Phase 4
16 Comparing With Traditional Nitrogen Calorie Parenteral Nutrition Support, the Impact of Low Calorie and Low Nitrogen Intake on the Clinical Outcome of Gastrointestinal Postoperative Patients, Multicentre Post-Marketing Clinical Study Completed NCT00247338 Phase 4 low calorie, low nitrogen parenteral nutrition for patient with NRS score 3
17 Phase 4 Study of Use of High-dose Intravenous Immune Globulin for Prevent Hyperbilirubinemia Due Rh Hemolytic Disease in Newborns Infants Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
18 Comparison Of Efficacy Of Two Immunosuppressive Protocols Including Tacrolimus With Or Without Mycophenolate Mofetil In Pediatric Liver Transplantation Aimed In Early Termination Of Steroid Therapy Completed NCT00195988 Phase 4 tacrolimus, steroids, mycophenolate mofetil
19 The Use of Human Albumin for the Treatment of Ascites in Patients With Hepatic Cirrhosis: a Multicenter, Open-label Randomized Clinical Trial Completed NCT01288794 Phase 4 Diuretics plus human albumin;Diuretics (standard medical treatment)
20 Effect Of Hormone Replacement Therapy On Disease Activity, Menopausal Symptoms And Bone Mineral Density In Peri/Postmenopausal Women With Systemic Lupus Erythematosus.Randomized Clinical Trial Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
21 Use of Omega-3 Fat Emulsion (Omegaven) in Infants With Parenteral Nutrition Associated Liver Disease Recruiting NCT00862446 Phase 4 Omegaven
22 Evaluation of Routine Administration of Glycerin Suppositories to Improve Bowel Function in Patients With Uncomplicated Gastroschisis Recruiting NCT03355326 Phase 4 Glycerin Suppository
23 Randomized Trial of Short Antibiotic Course to Decrease Post ERCP Cholangitis Recruiting NCT03087656 Phase 4 Ceftriaxone;Levofloxacin
24 A Multi-Center, Prospective, Randomized Study Comparing Removable, Self-Expanding Metal Stents to Plastic Stents for the Treatment of Benign Biliary Strictures Secondary to Chronic Pancreatitis Active, not recruiting NCT01543256 Phase 4
25 Low Dose Parenteral Fat for the Prevention of Parenteral Nutrition Associated Cholestasis in Neonates With Congenital/Acquired Gastrointestinal Disorders Terminated NCT01373918 Phase 4 Intralipid;Intralipid
26 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
27 A Randomized, Double-Blind, Controlled, Clinical Trial to Evaluate the Risk of Developing Essential Fatty Acid Deficiency in Pediatric Patients, Including Neonates, Receiving Either Clinolipid (Lipid Injectable Emulsion, USP) 20% or Standard-of-Care Soybean Oil-Based Lipid Emulsion Terminated NCT02476994 Phase 4 Clinolipid;Intralipid
28 A Pilot Study on the Efficicay and Safety of Pegylated Interferon, Ribavirin and Telaprevir in Recurrent Hepatitis C Virus (HCV) Infection in Orthotopic Liver Transplant (OLT) Recipients. Terminated NCT01592006 Phase 4 Peginterferon alfa-2a;Ribavirin;telaprevir
29 Safety and Efficacy of SMOFlipid in Patients Intolerant to Intralipid. Withdrawn NCT03054948 Phase 4 SMOFLipid;Standard therapy
30 The Effect of Bezafibrate on Cholestatic Itch Unknown status NCT02701166 Phase 3 Bezafibrate;Placebo
31 A Randomized Controlled Trial of Minimization of Intralipid Versus Omegaven for the Treatment of Severe Cholestasis- A Pilot Trial Unknown status NCT01247012 Phase 2, Phase 3
32 A Multi-Center, Prospective Study of the WallFlex Biliary RX Fully Covered Stent for the Treatment of Benign Biliary Strictures Unknown status NCT01014390 Phase 3
33 Fenofibrate for Patients With Primary Biliary Cirrhosis Who Had An Inadequate Response to Ursodeoxycholic Acid Unknown status NCT02823366 Phase 3 Fenofibrate;UDCA
34 Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis: a Randomized Control Study Unknown status NCT02823353 Phase 3 Fenofibrate;UDCA
35 Multicenter Randomized Trial Comparing Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
36 Open-label Observational Study of Plastic Cylindrical Fiber Optic Diffuser (Pioneer Optics) in Photodynamic Therapy for the Management of Cholangiocarcinoma. Unknown status NCT01755013 Phase 2, Phase 3
37 A Multi-Center, Single Arm, Prospective Study of the WallFlex™ Biliary Fully-covered Stent for the Palliative Treatment of Malignant Bile Duct Obstruction Completed NCT00433771 Phase 3
38 Ursodiol for Treating Parenteral Nutrition Associated Cholestasis in Neonates Completed NCT00846963 Phase 2, Phase 3 Ursodiol;placebo
39 Randomized Trial of Conventional Covered Self Expandable Metallic Stent Versus Paclitaxel Eluting Covered Self Expandable Metallic Stent in Unresectable Malignant Bile Duct Obstruction Completed NCT00453076 Phase 3
40 Photodynamic Therapy With S-1 in the Patients With Unresectable Type III or IV Cholangiocarcinoma: A Prospective Randomized Trial With Open Label Control Completed NCT00869635 Phase 3 S-1 Chemotherapy
41 Prospective Study Comparing EUS Guided Biliary Drainage and ERCP With Stent Placement for Malignant Biliary Obstruction Completed NCT01421836 Phase 2, Phase 3
42 Omegaven as Alternative Parenteral Fat Nutrition Completed NCT03662282 Phase 3 Omegaven
43 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
44 Randomised Placebo-controlled Study of Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
45 Effect of Lipid Intake on Direct Hyperbilirubinemia in Late Preterm and Term Infants With Gastrointestinal Surgical Problems. Completed NCT01555957 Phase 3 intravenous lipid
46 Cholestasis Reversal: Efficacy of IV Fish Oil Completed NCT00910104 Phase 2, Phase 3 Omegaven®
47 Use of Omegaven for Parenteral Nutrition Associated Liver Disease Completed NCT01194063 Phase 3 Omega-3 fish oil lipid emulsion
48 Compassionate Use of an Intravenous Fat Emulsion Comprised of Fish Oil in the Treatment of Parenteral Nutrition Induced Liver Injury in Infants Completed NCT02534077 Phase 3 Omegaven;Omegaven;Omegaven
49 Effectiveness of Multicomponent Lipid Emulsion in Preterm Infants Requiring Parenteral Nutrition: A Two-Center, Double-Blind Randomized Clinical Trial Completed NCT02663453 Phase 3 multicomponent lipid emulsion;pure soybean oil lipid emulsion
50 Study of Gabapentin for the Pruritus of Cholestasis Completed NCT00058890 Phase 3 Gabapentin;Placebo

Search NIH Clinical Center for Cholestasis

Cochrane evidence based reviews: cholestasis

Genetic Tests for Cholestasis

Genetic tests related to Cholestasis:

# Genetic test Affiliating Genes
1 Cholestasis 29

Anatomical Context for Cholestasis

MalaCards organs/tissues related to Cholestasis:

41
Liver, Testes, Bone, Kidney, Pancreas, Heart, Placenta

Publications for Cholestasis

Articles related to Cholestasis:

(show top 50) (show all 14166)
# Title Authors PMID Year
1
Citrin deficiency: learn more, and don't forget to add it to the list of neonatal cholestasis and the NASH trash bin. 9 38
20479677 2010
2
Nuclear receptors as drug targets in cholestasis and drug-induced hepatotoxicity. 9 38
20388526 2010
3
Glomerular basement membrane lipidosis in Alagille syndrome. 9 38
20091053 2010
4
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 9 38
20422496 2010
5
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 9 38
20422495 2010
6
Progressive familial intrahepatic cholestasis type 1. 9 38
20422494 2010
7
Nuclear receptor regulation of the adaptive response of bile acid transporters in cholestasis. 9 38
20422498 2010
8
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. 9 38
20200759 2010
9
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. 9 38
20010382 2010
10
Differential diagnosis of neonatal cholestasis: clinical and laboratory parameters. 9 38
20151096 2010
11
Bile acid transport correlative protein mRNA expression profile in human placenta with intrahepatic cholestasis of pregnancy. 9 38
19882051 2009
12
Xenobiotic-sensing nuclear receptors CAR and PXR as drug targets in cholestatic liver disease. 9 38
19925451 2009
13
[Citrin deficiency is an important etiology for cholestatic liver disease in children]. 9 38
19951499 2009
14
De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. 9 38
19642168 2009
15
[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family]. 9 38
19346182 2009
16
Farnesoid X receptor agonists in biliary tract disease. 9 38
19300246 2009
17
Hypergalactosemia in early infancy: diagnostic strategy with an emphasis on imaging. 9 38
19405932 2009
18
Mechanisms of resistance of hepatocyte retinoid X receptor alpha-null mice to WY-14,643-induced hepatocyte proliferation and cholestasis. 9 38
19176532 2009
19
Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis. 9 38
19002567 2009
20
Hypoxia downregulates farnesoid X receptor via a hypoxia-inducible factor-independent but p38 mitogen-activated protein kinase-dependent pathway. 9 38
19187229 2009
21
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. 9 38
19027009 2009
22
Hepatocyte nuclear factor 4alpha regulation of bile acid and drug metabolism. 9 38
19239393 2009
23
Nuclear receptors as therapeutic targets in cholestatic liver diseases. 9 38
19133988 2009
24
Nuclear receptors: mediators and modifiers of inflammation-induced cholestasis. 9 38
19273222 2009
25
Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure. 9 38
18493780 2008
26
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. 9 38
18781607 2008
27
Disturbed colocalization of multidrug resistance protein 2 and radixin in human cholestatic liver diseases. 9 38
17725603 2008
28
Retrieval of the rat canalicular conjugate export pump Mrp2 is associated with a rearrangement of actin filaments and radixin in bile salt-induced cholestasis. 9 38
18700187 2008
29
Expression of hepatocyte transporters and nuclear receptors in children with early and late-stage biliary atresia. 9 38
18327154 2008
30
[Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy]. 9 38
18575333 2008
31
Hepatocellular transport in acquired cholestasis: new insights into functional, regulatory and therapeutic aspects. 9 38
18377365 2008
32
Variability in human hepatic MRP4 expression: influence of cholestasis and genotype. 9 38
17404579 2008
33
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]. 9 38
18188816 2008
34
Patterns of correlation of plasma ceruloplasmin in sepsis. 9 38
17688883 2008
35
[Protective and restorative effect of antioxidants in experimental intoxication with chlorophenols]. 9 38
18589727 2008
36
A novel role of transforming growth factor beta1 in transcriptional repression of human cholesterol 7alpha-hydroxylase gene. 9 38
17920062 2007
37
Clinical hepatotoxicity. Regulation and treatment with inducers of transport and cofactors. 9 38
18001054 2007
38
Hyaluronic acid: additional biochemical marker in the diagnosis of biliary atresia. 9 38
17875085 2007
39
Evaluation of liver enzyme levels in workers exposed to vinyl chloride vapors in a petrochemical complex: a cross-sectional study. 9 38
17686177 2007
40
Clinical and pathological features of a prolonged type of acute intrahepatic cholestasis. 9 38
17517076 2007
41
Targeting farnesoid X receptor for liver and metabolic disorders. 9 38
17588816 2007
42
Bezafibrate induces multidrug-resistance P-Glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice. 9 38
17539998 2007
43
Glucagon-like peptide-1 and its receptor agonist exendin-4 modulate cholangiocyte adaptive response to cholestasis. 9 38
17631146 2007
44
Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis. 9 38
17592371 2007
45
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. 9 38
17562004 2007
46
Inchinkoto, a herbal medicine, and its ingredients dually exert Mrp2/MRP2-mediated choleresis and Nrf2-mediated antioxidative action in rat livers. 9 38
17038627 2007
47
Nuclear receptors RXRalpha:RARalpha are repressors for human MRP3 expression. 9 38
17272513 2007
48
MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. 9 38
17295178 2007
49
Role of pituitary hormones on 17alpha-ethinylestradiol-induced cholestasis in rat. 9 38
17108234 2007
50
Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha and the abnormality of HNF-1beta mutants. 9 38
17210751 2007

Variations for Cholestasis

ClinVar genetic disease variations for Cholestasis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC10A1 NM_003049.4(SLC10A1): c.745C> T (p.Arg249Trp) single nucleotide variant Uncertain significance rs76966244 14:70245900-70245900 14:69779183-69779183
2 SLC10A1 NM_003049.4(SLC10A1): c.601_611del (p.Ala201fs) deletion no interpretation for the single variant 14:70246034-70246044 14:69779317-69779327

Expression for Cholestasis

Search GEO for disease gene expression data for Cholestasis.

Pathways for Cholestasis

Pathways related to Cholestasis according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 SLC25A13 SLC10A2 SLC10A1 NR1H4 HSD3B7 GPT
2
Show member pathways
12.11 SLC10A2 SLC10A1 NR1H4 HSD3B7 CYP7A1 ABCC3
3 11.97 GGT1 ABCC4 ABCC3 ABCC2
4
Show member pathways
11.92 ABCC4 ABCC3 ABCC2
5
Show member pathways
11.89 SLC10A1 ABCC2 ABCB4 ABCB11
6
Show member pathways
11.79 ABCC4 ABCC2 ABCB11
7
Show member pathways
11.7 NR1I3 NR1I2 NR1H4
8
Show member pathways
11.62 ABCC4 ABCC3 ABCC2
9
Show member pathways
11.51 NR1I3 NR1I2 ABCC2
10 11.3 NR1I3 NR1I2 NR1H4 CYP7A1 ABCC3 ABCC2
11 11.16 NR1I3 ABCC3 ABCC2
12 11.13 SLC10A2 SLC10A1 NR1H4 CYP7A1 ABCC4 ABCC3
13 11.12 ABCC4 ABCC3 ABCC2
14 10.97 ABCC4 ABCC3 ABCC2
15 10.93 SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
16
Show member pathways
10.88 ABCC4 ABCC3 ABCC2
17 10.84 SLC10A1 NR1I3 NR1I2 NR1H4 CYP7A1 ABCC4
18 10.8 ABCC4 ABCC3 ABCC2
19 10.75 NR1I2 ABCC3
20 10.54 ABCC3 ABCC2

GO Terms for Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.61 SLC25A13 SLC10A2 SLC10A1 JAG1 ATP8B1 ABCC3
2 apical plasma membrane GO:0016324 9.55 SLC10A2 JAG1 ATP8B1 ABCC2 ABCB4
3 RNA polymerase II transcription factor complex GO:0090575 9.43 NR1I3 NR1I2 NR1H4
4 HOPS complex GO:0030897 9.32 VPS33B VIPAS39
5 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11
6 membrane GO:0016020 10.24 VPS33B TJP2 SLC25A13 SLC10A2 SLC10A1 JAG1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.76 SLC25A13 SLC10A2 SLC10A1 ABCC4 ABCC3 ABCC2
2 steroid hormone mediated signaling pathway GO:0043401 9.61 NR1I3 NR1I2 NR1H4
3 phospholipid translocation GO:0045332 9.54 ATP8B1 ABCB4
4 intracellular receptor signaling pathway GO:0030522 9.54 NR1I3 NR1I2 NR1H4
5 collagen metabolic process GO:0032963 9.52 VPS33B VIPAS39
6 cholesterol catabolic process GO:0006707 9.51 HSD3B7 CYP7A1
7 bile acid biosynthetic process GO:0006699 9.5 HSD3B7 CYP7A1 ABCB11
8 bile acid metabolic process GO:0008206 9.49 NR1H4 ATP8B1
9 peptidyl-lysine hydroxylation GO:0017185 9.46 VPS33B VIPAS39
10 regulation of bile acid biosynthetic process GO:0070857 9.4 NR1H4 CYP7A1
11 drug transmembrane transport GO:0006855 9.26 ATP8B1 ABCC2
12 xenobiotic transport GO:0042908 9.18 NR1I2
13 canalicular bile acid transport GO:0015722 9.13 ABCC3 ABCC2 ABCB11
14 bile acid and bile salt transport GO:0015721 9.1 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCC3 ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.65 SLC25A13 ABCC3 ABCC2
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.61 NR1I3 NR1I2 NR1H4
3 nuclear receptor transcription coactivator activity GO:0030374 9.58 NR1I3 NR1I2 NR1H4
4 ATPase activity GO:0016887 9.55 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
5 steroid hormone receptor activity GO:0003707 9.54 NR1I3 NR1I2 NR1H4
6 nuclear receptor activity GO:0004879 9.5 NR1I3 NR1I2 NR1H4
7 organic anion transmembrane transporter activity GO:0008514 9.46 ABCC3 ABCC2
8 bile acid:sodium symporter activity GO:0008508 9.26 SLC10A2 SLC10A1
9 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
10 bile acid-exporting ATPase activity GO:0015432 8.96 ABCC3 ABCB11

Sources for Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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