MCID: CHL068
MIFTS: 61

Cholestasis

Categories: Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Cholestasis

MalaCards integrated aliases for Cholestasis:

Name: Cholestasis 12 73 29 54 6 44 15 70
Obstruction of Bile Duct 12 32
Bile Duct Obstruction 54
Bile Occlusion 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13580
ICD9CM 34 576.2
MeSH 44 D002779
NCIt 50 C83006
SNOMED-CT 67 33688009
ICD10 32 K83.1
UMLS 70 C0008370

Summaries for Cholestasis

Disease Ontology : 12 A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.

MalaCards based summary : Cholestasis, also known as obstruction of bile duct, is related to intrahepatic cholestasis of pregnancy and cholestasis, intrahepatic, of pregnancy 3, and has symptoms including icterus and jaundice (not of newborn). An important gene associated with Cholestasis is USP53 (Ubiquitin Specific Peptidase 53), and among its related pathways/superpathways are Synthesis of bile acids and bile salts and NRF2 pathway. The drugs Sorbitol and Coconut have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and kidney, and related phenotypes are growth/size/body region and behavior/neurological

Wikipedia : 73 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 828)
# Related Disease Score Top Affiliating Genes
1 intrahepatic cholestasis of pregnancy 33.1 NR1I2 NR1H4 GPT ATP8B1 ABCC3 ABCC2
2 cholestasis, intrahepatic, of pregnancy 3 33.0 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 5 32.9 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
4 cholestasis, progressive familial intrahepatic, 4 32.9 TJP2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
5 cholestasis, intrahepatic, of pregnancy, 1 32.8 SLC25A13 NR1I2 NR1H4 JAG1 GGT1 ATP8B1
6 bile acid synthesis defect, congenital, 1 32.8 TJP2 SLC25A13 HSD3B7
7 cholestasis, progressive familial intrahepatic, 1 32.8 TJP2 SLC51B SLC10A1 NR1H4 JAG1 GGT1
8 alagille syndrome 1 32.7 JAG1 ATP8B1 ABCB4 ABCB11
9 cholestasis, benign recurrent intrahepatic, 2 32.7 TJP2 SLC51B SLC10A1 NR1H4 ATP8B1 ABCC2
10 bile acid synthesis defect, congenital, 2 32.6 SLC51B SLC10A1 NR1I2 NR1H4 HSD3B7 ABCB11
11 cholestasis, progressive familial intrahepatic, 2 32.5 TJP2 SLC51B SLC10A1 NR1H4 ATP8B1 ABCC4
12 cholestasis, benign recurrent intrahepatic, 1 32.5 USP53 TJP2 SLC51B SLC10A1 NR1I2 NR1H4
13 cholestasis, progressive familial intrahepatic, 3 32.5 TJP2 SLC51B SLC10A1 NR1H4 JAG1 ATP8B1
14 progressive familial intrahepatic cholestasis 32.4 USP53 TJP2 SLC51B SLC10A1 NR1H4 GGT1
15 atp8b1 deficiency 32.3 NR1H4 ATP8B1 ABCB11
16 familial intrahepatic cholestasis 32.2 TJP2 NR1H4 GGT1 ATP8B1 ABCC2 ABCB4
17 parenteral nutrition-associated cholestasis 32.2 GPT GGT1 ABCB4
18 extrahepatic cholestasis 32.2 SLC51B SLC10A1 NR1H4 GPT GGT1 ABCC3
19 citrullinemia, type ii, adult-onset 32.1 SLC25A13 HSD3B7 ABCB11
20 biliary atresia, extrahepatic 31.9 JAG1 GGT1
21 citrullinemia, classic 31.9 SLC25A13 HSD3B7 ABCB11
22 biliary atresia 31.9 SLC10A1 NR1H4 JAG1 GPT GGT1 ATP8B1
23 cerebrotendinous xanthomatosis 31.8 NR1I2 NR1H4 HSD3B7
24 primary biliary cholangitis 31.8 NR1I2 NR1H4 GPT GGT1 ABCC3 ABCC2
25 dubin-johnson syndrome 31.8 ATP8B1 ABCC4 ABCC3 ABCC2 ABCB11
26 cholangitis, primary sclerosing 31.6 SLC10A1 NR1I2 NR1H4 JAG1 GPT GGT1
27 cholangitis 31.5 NR1I2 NR1H4 GPT GGT1 ABCB4 ABCB11
28 caroli disease 31.5 GPT ABCB4
29 obstructive jaundice 31.4 SLC25A13 GPT GGT1 ABCC2
30 sclerosing cholangitis 31.3 NR1I2 NR1H4 GPT GGT1 ABCB4 ABCB11
31 cholelithiasis 31.2 NR1H4 GPT ABCB4
32 liver disease 31.1 TJP2 SLC25A13 SLC10A1 NR1I2 NR1H4 HSD3B7
33 choledocholithiasis 31.1 GPT GGT1 ABCB4
34 bile duct cysts 30.8 GPT ATP8B1 ABCB4 ABCB11
35 bilirubin metabolic disorder 30.8 SLC25A13 SLC10A1 NR1I2 NR1H4 HSD3B7 GPT
36 gallbladder disease 30.6 NR1H4 GPT ABCB4 ABCB11
37 diarrhea 30.6 SLC51B RASL12 GPT ABCC2
38 pericholangitis 30.2 SLC10A1 ABCB4 ABCB11
39 crigler-najjar syndrome, type i 30.1 NR1I2 ABCC3 ABCC2 ABCB11
40 autoimmune cholangitis 30.0 GGT1 ABCB4
41 suppurative cholangitis 30.0 GPT ABCB4
42 cholecystolithiasis 29.9 GPT ABCB4
43 choline deficiency disease 29.8 NR1H4 GPT
44 biliary tract disease 29.8 SLC51B SLC25A13 SLC10A1 NR1I2 NR1H4 JAG1
45 hyperuricemia 29.8 GPT GGT1 ABCC4
46 bile duct disease 29.5 SLC51B SLC25A13 SLC10A1 NR1I2 NR1H4 GPT
47 arthrogryposis, renal dysfunction, and cholestasis 1 11.7
48 gracile syndrome 11.6
49 citrullinemia, type ii, neonatal-onset 11.6
50 cholestasis-lymphedema syndrome 11.5

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)

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 ABCC2 ABCC4 ATP8B1 GGT1
2 behavior/neurological MP:0005386 10.15 ABCB11 ABCC2 ABCC3 ABCC4 ATP8B1 GGT1
3 homeostasis/metabolism MP:0005376 10.13 ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ATP8B1
4 integument MP:0010771 9.81 ABCC3 ABCC4 GGT1 HSD3B7 JAG1 NR1H4
5 liver/biliary system MP:0005370 9.65 ABCB11 ABCB4 ABCC2 ABCC3 ATP8B1 HSD3B7
6 skeleton MP:0005390 9.32 ABCB4 ATP8B1 GGT1 GPT JAG1 NR1H4

Drugs & Therapeutics for Cholestasis

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorbitol Approved Phase 4 50-70-4 5780
2 Coconut Approved Phase 4
3
Tocopherol Approved, Investigational Phase 4 1406-66-2
4
Methionine Approved, Nutraceutical Phase 4 63-68-3 6137
5
Choline Approved, Nutraceutical Phase 4 62-49-7 305
6
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
7
Lecithin Experimental Phase 4 8002-43-5
8 Tocotrienol Investigational Phase 4 6829-55-6
9 Hypolipidemic Agents Phase 4
10 Antimetabolites Phase 4
11 Lipid Regulating Agents Phase 4
12 Antiviral Agents Phase 4
13 Polyene phosphatidylcholine Phase 4
14 Nootropic Agents Phase 4
15 Ulipristal acetate Phase 4 126784-99-4
16 Fat Emulsions, Intravenous Phase 4
17 Olive Phase 4
18 Soy Bean Phase 4
19 Soybean oil, phospholipid emulsion Phase 4
20 Parenteral Nutrition Solutions Phase 4
21 Gastrointestinal Agents Phase 4
22 Cathartics Phase 4
23 Tocotrienols Phase 4
24 Laxatives Phase 4
25 Tocopherols Phase 4
26
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
27
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
28
Ursodeoxycholic acid Approved, Investigational Phase 3 128-13-2 31401
29
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
30
Ethanol Approved Phase 3 64-17-5 702
31
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
32
Bezafibrate Approved, Investigational Phase 3 41859-67-0 39042
33
Taurine Approved, Nutraceutical Phase 3 107-35-7 1123
34
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
35
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
36 Hypoglycemic Agents Phase 2, Phase 3
37 Trace Elements Phase 3
38 Micronutrients Phase 3
39 Psychotropic Drugs Phase 3
40 Excitatory Amino Acid Antagonists Phase 3
41 Anti-Anxiety Agents Phase 3
42 Neurotransmitter Agents Phase 3
43 Anticonvulsants Phase 3
44 Bile Acids and Salts Phase 3
45 DEFB1 protein, human Phase 3
46 Cholic Acids Phase 3
47 Clofibric Acid Phase 3 882-09-7
48 Omega 3 Fatty Acid Phase 3
49 Liver Extracts Phase 3
50
Bilirubin Phase 3 635-65-4 5280352

Interventional clinical trials:

(show top 50) (show all 203)
# 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 Alcoholic Hepatitis With Cholestasis Unknown status NCT02024295 Phase 4 Ademethionine;Polyene Phosphatidyl choline;Ademethionine
3 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
4 RCT Steel (Wallstent®) vs Nitinol (Wallflex®) Bile Duct Stent for Palliation of Malignant Obstruction Completed NCT00980889 Phase 4
5 Pilot Study on the Usefulness of Endoscopic Ultrasound-guided Biliary Drainage With a Newly Designed Hybrid Metallic Stent Completed NCT01862198 Phase 4
6 Covered Versus Uncovered Metal Stents for Management of Distal Malignant Biliary Obstruction? Results of a Randomized Prospective Study. Completed NCT00280709 Phase 4
7 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
8 Preventing Cholestasis in Premature Infants Using SMOFLipid® Completed NCT01585935 Phase 4 SMOFLIPID;INTRALIPID
9 The Preventative and Therapeutical Effect of Ursodeoxycholic Acid(UDCA) to Parenteral Nutrition-associated Cholestasis in Short Bowel Syndrome Completed NCT01974336 Phase 4 ursodeoxycholic acid
10 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 Completed NCT01543256 Phase 4
11 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
12 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
13 The Effect of Bezafibrate on Cholestatic Itch Unknown status NCT02701166 Phase 3 Bezafibrate;Placebo
14 METformin in Intrahepatic Cholestasis of Pregnancy (METRIC) Study Unknown status NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
15 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
16 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
17 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
18 Study of Gabapentin for the Pruritus of Cholestasis Completed NCT00058890 Phase 3 Gabapentin;Placebo
19 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
20 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
21 Ursodiol for Treating Parenteral Nutrition Associated Cholestasis in Neonates Completed NCT00846963 Phase 2, Phase 3 Ursodiol;placebo
22 Randomised Placebo-controlled Study of Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
23 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
24 Multicenter Study of EUS-guided Biliary Drainage Using Partially Covered With a Dedicated Introducer or Fully Covered Antimigration Metallic Stents Completed NCT02114320 Phase 3
25 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Completed NCT02370251 Phase 2, Phase 3 Omegaven
26 A Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study to Demonstrate Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 1) Completed NCT03566238 Phase 3 A4250 (odevixibat);Placebo
27 Cholestasis Reversal: Efficacy of IV Fish Oil Completed NCT00910104 Phase 2, Phase 3 Omegaven®
28 Omegaven as Alternative Parenteral Fat Nutrition Completed NCT03662282 Phase 3 Omegaven
29 Use of Omegaven for Parenteral Nutrition Associated Liver Disease Completed NCT01194063 Phase 3 Omega-3 fish oil lipid emulsion
30 Effect of Lipid Intake on Direct Hyperbilirubinemia in Late Preterm and Term Infants With Gastrointestinal Surgical Problems. Completed NCT01555957 Phase 3 intravenous lipid
31 Phase 3 Study of Standard Lipid Therapy Versus Intravenous Fat Emulsion Minimization for the Prevention of Parenteral Nutrition-Associated Liver Disease Completed NCT02357576 Phase 3 Intralipid 20% I.V. Fat Emulsion
32 A Multi-Center, Prospective Study of the WallFlex Biliary RX Fully Covered Stent for the Treatment of Benign Biliary Strictures Completed NCT01014390 Phase 3
33 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
34 Evaluate the Efficacy And Safety Of TUDCA Compare UDCA In The Treatment Of Cholestatic Liver Disease-PBC by A Randomized,Double-Blind,Double Dummy,Parallel-Controlled,Multicenter Trial and The Consecutive Treatment By TUDCA Completed NCT01829698 Phase 3 tauroursodeoxycholic;ursodeoxycholic acid
35 An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2) Recruiting NCT03659916 Phase 3 A4250 (odevixibat)
36 MRX-502: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) - MARCH-PFIC Recruiting NCT03905330 Phase 3 Maralixibat
37 Comparison of Composite Lipid Emulsion Containing Fish Oil to Soy-based Lipid Reduction for Cholestasis Prevention in Neonates Requiring Abdominal Surgery Recruiting NCT03387579 Phase 3 Lipid Emulsions, Intravenous;Intralipid, 20% Intravenous Emulsion
38 Long-term Safety and Tolerability Study of Linerixibat for the Treatment of Cholestatic Pruritus in Participants With Primary Biliary Cholangitis Recruiting NCT04167358 Phase 3 Linerixibat
39 The Safety and Efficacy of a Short Specially Designed Fully Covered Metallic Stent in the Management of Benign Post-surgical Biliary Strictures: a Randomized-controlled Study Recruiting NCT03716232 Phase 3
40 An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Enrolling by invitation NCT04185363 Phase 3 Maralixibat
41 Jian-She Wang of Children's Hospital of Fudan University Not yet recruiting NCT04531878 Phase 2, Phase 3 4-Phenylbutyrate
42 Double Blind, Multicentric, Randomized, Placebo-controlled Trial, Evaluating the Efficacy of 24 Month of Bezafibrate in Primary Sclerosing Cholangitis With Persistent Cholestasis Despite Ursodeoxycholic Acid Therapy Not yet recruiting NCT04309773 Phase 3 Bezafibrate (400mg) in addition to standard 15-20 mg/kg/jour UDCA therapy;Placebo of Bezafibrate in addition to standard UDCA therapy
43 Effect of Two Amino Acid Solutions on Blood Amino Acid Levels and Frequency of Cholestasis in Neonates Terminated NCT01062724 Phase 3
44 Effect of n-3 Polyunsaturated Fatty Acid Lipid Emulsion on Parenteral Nutrition Associated Liver Disease Terminated NCT01565278 Phase 3 Soybean oil (Standard treatment);Soybean oil + Fish oil
45 Intrahepatic Cholestasis Of Pregnancy: Clinical Impact Of Ursodeoxycholic Acid Treatment Withdrawn NCT01226823 Phase 3 Ursodeoxycholic Acid;Placebo
46 Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Withdrawn NCT03353454 Phase 3 Maralixibat;Placebo
47 Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease Unknown status NCT00004315 Phase 2 ursodiol
48 Efficacy and Safety of Omega-3 Lipid Therapy in Pediatric Patients With Parenteral Nutrition-Associated Liver Disease Unknown status NCT01739517 Phase 2 Omegaven Therapy
49 Open Label, Compassionate Use Protocol of an Intravenous Fish Oil Emulsion in Infants With Cholestasis Completed NCT01601652 Phase 1, Phase 2 Omegaven
50 Phase II Study of Photodynamic Therapy With PHOTOFRIN (Porfimer Sodium) for Injection in Patients With Malignant Bile Duct Obstruction Completed NCT00003923 Phase 2 porfimer sodium

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:

40
Liver, Pancreas, Kidney, Placenta, Heart, Bone, Pituitary

Publications for Cholestasis

Articles related to Cholestasis:

(show top 50) (show all 15143)
# Title Authors PMID Year
1
Nuclear receptors as drug targets in cholestasis and drug-induced hepatotoxicity. 61 54
20388526 2010
2
Citrin deficiency: learn more, and don't forget to add it to the list of neonatal cholestasis and the NASH trash bin. 54 61
20479677 2010
3
Glomerular basement membrane lipidosis in Alagille syndrome. 54 61
20091053 2010
4
Nuclear receptor regulation of the adaptive response of bile acid transporters in cholestasis. 54 61
20422498 2010
5
Progressive familial intrahepatic cholestasis type 1. 61 54
20422494 2010
6
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 61 54
20422495 2010
7
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 61 54
20422496 2010
8
Differential diagnosis of neonatal cholestasis: clinical and laboratory parameters. 61 54
20151096 2010
9
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. 61 54
20200759 2010
10
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. 61 54
20010382 2010
11
Bile acid transport correlative protein mRNA expression profile in human placenta with intrahepatic cholestasis of pregnancy. 61 54
19882051 2009
12
Xenobiotic-sensing nuclear receptors CAR and PXR as drug targets in cholestatic liver disease. 54 61
19925451 2009
13
[Citrin deficiency is an important etiology for cholestatic liver disease in children]. 54 61
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. 61 54
19642168 2009
15
[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family]. 54 61
19346182 2009
16
Farnesoid X receptor agonists in biliary tract disease. 61 54
19300246 2009
17
Hypergalactosemia in early infancy: diagnostic strategy with an emphasis on imaging. 61 54
19405932 2009
18
Mechanisms of resistance of hepatocyte retinoid X receptor alpha-null mice to WY-14,643-induced hepatocyte proliferation and cholestasis. 54 61
19176532 2009
19
Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis. 54 61
19002567 2009
20
Hypoxia downregulates farnesoid X receptor via a hypoxia-inducible factor-independent but p38 mitogen-activated protein kinase-dependent pathway. 54 61
19187229 2009
21
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. 54 61
19027009 2009
22
Hepatocyte nuclear factor 4alpha regulation of bile acid and drug metabolism. 61 54
19239393 2009
23
Nuclear receptors: mediators and modifiers of inflammation-induced cholestasis. 54 61
19273222 2009
24
Nuclear receptors as therapeutic targets in cholestatic liver diseases. 54 61
19133988 2009
25
Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure. 61 54
18493780 2008
26
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. 61 54
18781607 2008
27
Retrieval of the rat canalicular conjugate export pump Mrp2 is associated with a rearrangement of actin filaments and radixin in bile salt-induced cholestasis. 54 61
18700187 2008
28
Disturbed colocalization of multidrug resistance protein 2 and radixin in human cholestatic liver diseases. 61 54
17725603 2008
29
Expression of hepatocyte transporters and nuclear receptors in children with early and late-stage biliary atresia. 61 54
18327154 2008
30
Hepatocellular transport in acquired cholestasis: new insights into functional, regulatory and therapeutic aspects. 54 61
18377365 2008
31
[Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy]. 54 61
18575333 2008
32
Variability in human hepatic MRP4 expression: influence of cholestasis and genotype. 61 54
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]. 61 54
18188816 2008
34
Patterns of correlation of plasma ceruloplasmin in sepsis. 54 61
17688883 2008
35
[Protective and restorative effect of antioxidants in experimental intoxication with chlorophenols]. 54 61
18589727 2008
36
A novel role of transforming growth factor beta1 in transcriptional repression of human cholesterol 7alpha-hydroxylase gene. 54 61
17920062 2007
37
Clinical hepatotoxicity. Regulation and treatment with inducers of transport and cofactors. 54 61
18001054 2007
38
Hyaluronic acid: additional biochemical marker in the diagnosis of biliary atresia. 54 61
17875085 2007
39
Clinical and pathological features of a prolonged type of acute intrahepatic cholestasis. 54 61
17517076 2007
40
Evaluation of liver enzyme levels in workers exposed to vinyl chloride vapors in a petrochemical complex: a cross-sectional study. 61 54
17686177 2007
41
Glucagon-like peptide-1 and its receptor agonist exendin-4 modulate cholangiocyte adaptive response to cholestasis. 61 54
17631146 2007
42
Bezafibrate induces multidrug-resistance P-Glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice. 61 54
17539998 2007
43
Targeting farnesoid X receptor for liver and metabolic disorders. 61 54
17588816 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. 54 61
17592371 2007
45
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. 54 61
17562004 2007
46
Inchinkoto, a herbal medicine, and its ingredients dually exert Mrp2/MRP2-mediated choleresis and Nrf2-mediated antioxidative action in rat livers. 61 54
17038627 2007
47
Nuclear receptors RXRalpha:RARalpha are repressors for human MRP3 expression. 61 54
17272513 2007
48
Role of pituitary hormones on 17alpha-ethinylestradiol-induced cholestasis in rat. 54 61
17108234 2007
49
MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. 54 61
17295178 2007
50
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. 61 54
17264802 2007

Variations for Cholestasis

ClinVar genetic disease variations for Cholestasis:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USP53 NM_019050.2(USP53):c.569+2T>C SNV Pathogenic 694476 rs1578491039 GRCh37: 4:120177680-120177680
GRCh38: 4:119256525-119256525
2 USP53 NM_019050.2(USP53):c.583del (p.Arg195fs) Deletion Pathogenic 694477 rs1578499691 GRCh37: 4:120180986-120180986
GRCh38: 4:119259831-119259831
3 USP53 NM_001371395.1(USP53):c.832_833AG[3] (p.Val279fs) Microsatellite Pathogenic 694478 rs1578504946 GRCh37: 4:120182878-120182879
GRCh38: 4:119261723-119261724
4 USP53 NM_019050.2(USP53):c.1012C>T (p.Arg338Ter) SNV Pathogenic 694273 rs751511532 GRCh37: 4:120188514-120188514
GRCh38: 4:119267359-119267359
5 USP53 NM_019050.2(USP53):c.1426C>T (p.Arg476Ter) SNV Pathogenic 694480 rs199791850 GRCh37: 4:120190983-120190983
GRCh38: 4:119269828-119269828
6 USP53 NM_019050.2(USP53):c.1558C>T (p.Arg520Ter) SNV Pathogenic 694481 rs1452792080 GRCh37: 4:120192573-120192573
GRCh38: 4:119271418-119271418
7 USP53 NM_019050.2(USP53):c.169C>T (p.Arg57Ter) SNV Pathogenic 694473 rs376368459 GRCh37: 4:120166516-120166516
GRCh38: 4:119245361-119245361
8 USP53 NM_019050.2(USP53):c.297G>T (p.Arg99Ser) SNV Pathogenic 694474 rs762702807 GRCh37: 4:120169962-120169962
GRCh38: 4:119248807-119248807
9 USP53 NM_019050.2(USP53):c.395A>G (p.His132Arg) SNV Likely pathogenic 694475 rs1578490102 GRCh37: 4:120177423-120177423
GRCh38: 4:119256268-119256268
10 RASL12 , SLC51B NM_178859.4(SLC51B):c.84del (p.Arg29fs) Deletion Likely pathogenic 804474 rs1595900104 GRCh37: 15:65342421-65342421
GRCh38: 15:65050083-65050083
11 USP53 NM_019050.2(USP53):c.878G>T (p.Gly293Val) SNV Likely pathogenic 694479 rs1317656688 GRCh37: 4:120182925-120182925
GRCh38: 4:119261770-119261770
12 SLC10A1 NM_003049.4(SLC10A1):c.745C>T (p.Arg249Trp) SNV Uncertain significance 617621 rs76966244 GRCh37: 14:70245900-70245900
GRCh38: 14:69779183-69779183

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 SLC10A1 NR1H4 HSD3B7 ABCC3 ABCB11
2 11.99 GGT1 ABCC4 ABCC3 ABCC2
3
Show member pathways
11.9 SLC10A1 ABCC2 ABCB4 ABCB11
4
Show member pathways
11.84 ABCC4 ABCC3 ABCC2 ABCB11
5
Show member pathways
11.62 ABCC4 ABCC3 ABCC2
6 11.51 SLC51B SLC10A1 NR1H4 ABCC4 ABCC3 ABCC2
7 11.18 NR1I2 NR1H4 ABCC3 ABCC2 ABCB4 ABCB11
8 11.16 ABCC4 ABCC3 ABCC2
9 10.99 ABCC4 ABCC3 ABCC2
10
Show member pathways
10.91 ABCC4 ABCC3 ABCC2
11 10.9 SLC10A1 NR1H4 ABCB4 ABCB11
12 10.84 ABCC4 ABCC3 ABCC2
13 10.73 NR1I2 ABCC3
14 10.73 NR1I2 ABCC4 ABCC3 ABCC2
15 10.54 ABCC3 ABCC2
16 10.46 SLC51B SLC10A1 NR1I2 NR1H4 ABCC4 ABCC3

GO Terms for Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 VPS33B TJP2 SLC51B SLC25A13 SLC10A1 RASL12
2 plasma membrane GO:0005886 10.18 TJP2 SLC51B SLC10A1 RASL12 JAG1 GGT1
3 integral component of plasma membrane GO:0005887 9.86 SLC25A13 SLC10A1 JAG1 ATP8B1 ABCC3 ABCC2
4 basolateral plasma membrane GO:0016323 9.62 SLC51B SLC10A1 ABCC4 ABCB11
5 apical plasma membrane GO:0016324 9.43 JAG1 ATP8B1 ABCC4 ABCC2 ABCB4 ABCB11
6 HOPS complex GO:0030897 9.37 VPS33B VIPAS39
7 intracellular canaliculus GO:0046691 9.16 ABCC2 ABCB11
8 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 SLC51B SLC25A13 SLC10A1 ABCC4 ABCC3 ABCC2
2 xenobiotic transport GO:0042908 9.62 NR1I2 ABCC4 ABCC3 ABCB11
3 bile acid metabolic process GO:0008206 9.61 NR1H4 ATP8B1 ABCB11
4 leukotriene transport GO:0071716 9.58 ABCC4 ABCC3 ABCC2
5 organic anion transport GO:0015711 9.56 ATP8B1 ABCC2
6 collagen metabolic process GO:0032963 9.55 VPS33B VIPAS39
7 peptidyl-lysine hydroxylation GO:0017185 9.54 VPS33B VIPAS39
8 bile acid secretion GO:0032782 9.52 SLC51B ABCB4
9 cellular response to bile acid GO:1903413 9.51 NR1H4 ABCB4
10 regulation of bile acid secretion GO:0120188 9.49 SLC10A1 ABCC2
11 response to 17alpha-ethynylestradiol GO:1904486 9.48 SLC10A1 ABCC2
12 drug export GO:0046618 9.46 ABCC2 ABCB11
13 bile acid signaling pathway GO:0038183 9.46 SLC10A1 NR1H4 ABCC4 ABCC2
14 canalicular bile acid transport GO:0015722 9.43 ABCC3 ABCC2 ABCB11
15 drug transmembrane transport GO:0006855 9.26 ATP8B1 ABCC3 ABCC2 ABCB11
16 bile acid and bile salt transport GO:0015721 9.17 SLC51B SLC10A1 NR1H4 ATP8B1 ABCC3 ABCC2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.73 SLC51B SLC25A13 ABCC3 ABCC2
2 ATPase activity GO:0016887 9.72 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
3 nuclear receptor binding GO:0016922 9.48 NR1I2 NR1H4
4 organic anion transmembrane transporter activity GO:0008514 9.46 ABCC3 ABCC2
5 bile acid transmembrane transporter activity GO:0015125 9.43 SLC51B SLC10A1 ABCB11
6 glutathione S-conjugate-exporting ATPase activity GO:0015431 9.4 ABCC4 ABCC3
7 bile acid-exporting ATPase activity GO:0015432 9.37 ABCC3 ABCB11
8 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.33 ABCC3 ABCC2 ABCB11
9 xenobiotic transmembrane transporter activity GO:0042910 9.26 ABCC4 ABCC3 ABCC2 ABCB4
10 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11

Sources for Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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