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MCID: CHL068
MIFTS: 61

Cholestasis

Categories: Gastrointestinal diseases, Liver diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cholestasis

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MalaCards integrated aliases for Cholestasis:

Name: Cholestasis 12 74 29 54 6 43 15 71
Obstruction of Bile Duct 12 32
Bile Duct Obstruction 54
Bile Occlusion 12

Classifications:

MalaCards categories:
Anatomical: Gastrointestinal diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:13580
ICD9CM 34 576.2
MeSH 43 D002779
NCIt 49 C83006
SNOMED-CT 67 33688009
ICD10 32 K83.1
UMLS 71 C0008370
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Summaries for Cholestasis

About this section
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 cholestasis, progressive familial intrahepatic, 5 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 Tacrolimus and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 74 Cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two basic... more...

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Related Diseases for Cholestasis

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

(show top 50) (show all 823)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 34.8 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
2 cholestasis, intrahepatic, of pregnancy 3 34.8 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 4 34.7 TJP2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
4 intrahepatic cholestasis of pregnancy 34.7 NR1I2 NR1H4 GPT ATP8B1 ABCC3 ABCC2
5 cholestasis, intrahepatic, of pregnancy, 1 34.5 SLC25A13 NR1I2 NR1H4 JAG1 GGT1 ATP8B1
6 cholestasis, progressive familial intrahepatic, 3 34.5 TJP2 SLC51B SLC10A1 NR1H4 JAG1 ATP8B1
7 parenteral nutrition-associated cholestasis 34.3 GPT GGT1 ABCB4
8 cholestasis, progressive familial intrahepatic, 1 34.3 TJP2 SLC10A1 NR1H4 JAG1 GGT1 CYP7A1
9 bile acid synthesis defect, congenital, 1 34.1 SLC25A13 HSD3B7 GGT1
10 cholestasis, benign recurrent intrahepatic, 1 34.1 TJP2 SLC51B SLC10A1 NR1H4 CYP7A1 ATP8B1
11 familial intrahepatic cholestasis 34.1 TJP2 NR1H4 GGT1 ATP8B1 ABCC2 ABCB4
12 alagille syndrome 1 34.1 JAG1 ATP8B1 ABCB4 ABCB11
13 cholestasis, benign recurrent intrahepatic, 2 34.0 TJP2 SLC51B SLC10A1 NR1H4 CYP7A1 ATP8B1
14 cholestasis, progressive familial intrahepatic, 2 33.9 TJP2 SLC51B SLC10A1 NR1H4 CYP7A1 ATP8B1
15 progressive familial intrahepatic cholestasis 33.9 USP53 TJP2 SLC10A1 NR1H4 GGT1 CYP7A1
16 extrahepatic cholestasis 33.6 SLC51B SLC10A1 NR1H4 GPT GGT1 CYP7A1
17 bile acid synthesis defect, congenital, 2 33.4 SLC51B SLC10A1 NR1I2 NR1H4 HSD3B7 CYP7A1
18 atp8b1 deficiency 33.3 NR1H4 ATP8B1 ABCB11
19 biliary atresia, extrahepatic 33.0 JAG1 GGT1
20 citrullinemia, classic 32.9 SLC25A13 GPT ATP8B1 ABCB11
21 dubin-johnson syndrome 32.7 ATP8B1 ABCC4 ABCC3 ABCC2 ABCB11
22 biliary atresia 32.7 SLC10A1 NR1H4 JAG1 GPT GGT1 ATP8B1
23 cerebrotendinous xanthomatosis 32.6 NR1I2 NR1H4 HSD3B7 CYP7A1
24 cholangitis, primary sclerosing 32.1 SLC10A1 NR1I2 NR1H4 JAG1 GPT GGT1
25 caroli disease 32.0 ATP8B1 ABCB4
26 primary biliary cirrhosis 32.0 SLC10A1 NR1I2 NR1H4 GPT GGT1 CYP7A1
27 cholangitis 31.8 NR1I2 NR1H4 GPT GGT1 ABCB4 ABCB11
28 obstructive jaundice 31.6 SLC25A13 GPT GGT1 ABCC2
29 sclerosing cholangitis 31.4 NR1I2 NR1H4 GPT GGT1 ABCC2 ABCB4
30 liver disease 31.4 TJP2 SLC25A13 SLC10A1 NR1H4 HSD3B7 GPT
31 bilirubin metabolic disorder 31.4 GPT GGT1 ATP8B1 ABCC4 ABCC3 ABCC2
32 choledocholithiasis 31.3 GPT GGT1 ABCB4
33 cholelithiasis 31.2 NR1H4 GPT GGT1 CYP7A1 ABCB4
34 bile duct cysts 31.1 GPT GGT1 ATP8B1 ABCB4
35 hypercholesterolemia, familial, 1 31.0 NR1H4 GPT CYP7A1
36 gallbladder disease 30.9 NR1H4 GPT GGT1 ABCB4 ABCB11
37 fatty liver disease, nonalcoholic 1 30.8 GPT GGT1
38 xanthomatosis 30.7 NR1I2 NR1H4 CYP7A1
39 pericholangitis 30.5 SLC10A1 ABCB4 ABCB11
40 acute cholangitis 30.4 GPT GGT1
41 non-alcoholic steatohepatitis 30.3 NR1H4 GPT GGT1
42 suppurative cholangitis 30.3 GPT GGT1 ABCB4
43 hyperuricemia 30.1 GPT GGT1 ABCC4
44 non-alcoholic fatty liver disease 30.0 NR1H4 GPT GGT1 ABCB11
45 choline deficiency disease 30.0 NR1H4 GPT
46 lipid storage disease 30.0 NR1H4 GPT GGT1 CYP7A1
47 inherited metabolic disorder 29.9 NR1H4 GPT GGT1
48 biliary tract disease 29.7 SLC25A13 SLC10A1 NR1I2 NR1H4 GPT GGT1
49 bile duct disease 29.3 SLC25A13 SLC10A1 NR1I2 NR1H4 GPT GGT1
50 arthrogryposis, renal dysfunction, and cholestasis 1 12.8

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
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Symptoms & Phenotypes for Cholestasis

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UMLS symptoms related to Cholestasis:


icterus, jaundice (not of newborn)

MGI Mouse Phenotypes related to Cholestasis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 ABCB11 ABCB4 ABCC4 ATP8B1 CYP7A1 GGT1
2 homeostasis/metabolism MP:0005376 10.16 ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ATP8B1
3 behavior/neurological MP:0005386 10.15 ABCB11 ABCC3 ABCC4 ATP8B1 CYP7A1 GGT1
4 integument MP:0010771 9.85 ABCC3 ABCC4 CYP7A1 GGT1 HSD3B7 JAG1
5 liver/biliary system MP:0005370 9.7 ABCB11 ABCB4 ABCC2 ABCC3 ATP8B1 CYP7A1
6 skeleton MP:0005390 9.32 ABCB4 ATP8B1 GGT1 GPT JAG1 NR1H4
Sources

Drugs & Therapeutics for Cholestasis

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

(show top 50) (show all 187)
# 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 5361919 5479530
5
Glycerol Approved, Investigational Phase 4 56-81-5 753
6
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
7
Ofloxacin Approved Phase 4 82419-36-1 4583
8
Metformin Approved Phase 4 657-24-9 14219 4091
9 Coconut Approved Phase 4
10
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
11
Sorbitol Approved Phase 4 50-70-4 5780
12
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
13
Ribavirin Approved Phase 4 36791-04-5 37542
14
Choline Approved, Nutraceutical Phase 4 62-49-7 305
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
16 Tocotrienol Investigational Phase 4 6829-55-6
17 Polyene phosphatidylcholine Phase 4
18 Ulipristal acetate Phase 4 126784-99-4
19 Immunologic Factors Phase 4
20 Immunosuppressive Agents Phase 4
21 Antibodies Phase 4
22 Immunoglobulins Phase 4
23 Estrogens Phase 4
24 Hormones Phase 4
25 Rho(D) Immune Globulin Phase 4
26 gamma-Globulins Phase 4
27 Immunoglobulins, Intravenous Phase 4
28 Hormone Antagonists Phase 4
29 Antitubercular Agents Phase 4
30 Calcineurin Inhibitors Phase 4
31 Sodium Potassium Chloride Symporter Inhibitors Phase 4
32 diuretics Phase 4
33 Estrogens, Conjugated (USP) Phase 4
34 Anti-Bacterial Agents Phase 4
35 Antibiotics, Antitubercular Phase 4
36 Protective Agents Phase 4
37 Cytochrome P-450 Enzyme Inhibitors Phase 4
38 Hypoglycemic Agents Phase 4
39 Anti-Infective Agents Phase 4
40 Antiviral Agents Phase 4
41 Antimetabolites Phase 4
42 Gastrointestinal Agents Phase 4
43 Liver Extracts Phase 4
44 Pharmaceutical Solutions Phase 4
45 Parenteral Nutrition Solutions Phase 4
46 Fat Emulsions, Intravenous Phase 4
47 Soybean oil, phospholipid emulsion Phase 4
48 Phytosterol Phase 4
49 Laxatives Phase 4
50 Cathartics Phase 4

Interventional clinical trials:

(show top 50) (show all 317)
# 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 Use of Omega-3 Fat Emulsion (Omegaven) in Infants With Parenteral Nutrition Associated Liver Disease Completed NCT00862446 Phase 4 Omegaven
15 Effect of Different Enteral Nutrition Formulas on Glucose Homeostasis Completed NCT03012867 Phase 4
16 Effectiveness of S-adenosyl-L-methionine in Patients With Primary Biliary Cirrhosis Completed NCT02557360 Phase 4
17 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
18 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
19 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
20 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)
21 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
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 Effects of Medium and Long Chain Fat Emulsions and SMOF Fat Emulsions on PNALD and Oxidative Stress in Premature Infants: a Randomized, Double-blind Controlled Study Not yet recruiting NCT04277923 Phase 4 SMOFlipid;Lipofundin
26 Randomised Controlled Trial of Gestational Treatment With Ursodeoxycholic Acid Compared to Metformin to Reduce Effects of Diabetes Mellitus Not yet recruiting NCT04407650 Phase 4 Metformin;Ursodeoxycholic Acid
27 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
28 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
29 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
30 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
31 Safety and Efficacy of SMOFlipid in Patients Intolerant to Intralipid. Withdrawn NCT03054948 Phase 4 SMOFLipid;Standard therapy
32 METformin in Intrahepatic Cholestasis of Pregnancy (METRIC) Study Unknown status NCT03056274 Phase 2, Phase 3 Metformin;Ursodeoxycholic Acid
33 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
34 The Effect of Bezafibrate on Cholestatic Itch Unknown status NCT02701166 Phase 3 Bezafibrate;Placebo
35 Fenofibrate for Patients With Primary Biliary Cirrhosis Who Had An Inadequate Response to Ursodeoxycholic Acid Unknown status NCT02823366 Phase 3 Fenofibrate;UDCA
36 Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis: a Randomized Control Study Unknown status NCT02823353 Phase 3 Fenofibrate;UDCA
37 Multicenter Randomized Trial Comparing Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
38 Efficacy and Security of Bezafibrate in Patients With Primary Biliary Cirrhosis Without Biochemical Response to Ursodeoxycholic Acid: A Randomized, Double-blind, Placebo-controlled Trial Unknown status NCT02937012 Phase 3 Bezafibrate;Ursodeoxycholic Acid;Placebo (for Bezafibrate)
39 A Multi-Center, Single Arm, Prospective Study of the WallFlexâ„¢ Biliary Fully-covered Stent for the Palliative Treatment of Malignant Bile Duct Obstruction Completed NCT00433771 Phase 3
40 Ursodiol for Treating Parenteral Nutrition Associated Cholestasis in Neonates Completed NCT00846963 Phase 2, Phase 3 Ursodiol;placebo
41 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
42 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
43 Prospective Study Comparing EUS Guided Biliary Drainage and ERCP With Stent Placement for Malignant Biliary Obstruction Completed NCT01421836 Phase 2, Phase 3
44 Omegaven as Alternative Parenteral Fat Nutrition Completed NCT03662282 Phase 3 Omegaven
45 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
46 Randomised Placebo-controlled Study of Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3 ursodeoxycholic acid;Placebo
47 Effect of Lipid Intake on Direct Hyperbilirubinemia in Late Preterm and Term Infants With Gastrointestinal Surgical Problems. Completed NCT01555957 Phase 3 intravenous lipid
48 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
49 Cholestasis Reversal: Efficacy of IV Fish Oil Completed NCT00910104 Phase 2, Phase 3 Omegaven®
50 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Completed NCT02370251 Phase 2, Phase 3 Omegaven

Search NIH Clinical Center for Cholestasis

Cochrane evidence based reviews: cholestasis

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Genetic Tests for Cholestasis

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Genetic tests related to Cholestasis:

# Genetic test Affiliating Genes
1 Cholestasis 29
Sources

Anatomical Context for Cholestasis

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MalaCards organs/tissues related to Cholestasis:

40
Liver, Testes, Bone, Kidney, Pancreas, Heart, Placenta
Sources

Publications for Cholestasis

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Articles related to Cholestasis:

(show top 50) (show all 14637)
# 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. 54 61
20479677 2010
2
Glomerular basement membrane lipidosis in Alagille syndrome. 54 61
20091053 2010
3
Nuclear receptors as drug targets in cholestasis and drug-induced hepatotoxicity. 61 54
20388526 2010
4
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 54 61
20422496 2010
5
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 54 61
20422495 2010
6
Progressive familial intrahepatic cholestasis type 1. 54 61
20422494 2010
7
Nuclear receptor regulation of the adaptive response of bile acid transporters in cholestasis. 61 54
20422498 2010
8
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. 54 61
20200759 2010
9
Differential diagnosis of neonatal cholestasis: clinical and laboratory parameters. 61 54
20151096 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. 54 61
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. 54 61
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
Hypoxia downregulates farnesoid X receptor via a hypoxia-inducible factor-independent but p38 mitogen-activated protein kinase-dependent pathway. 61 54
19187229 2009
20
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. 61 54
19027009 2009
21
Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis. 54 61
19002567 2009
22
Hepatocyte nuclear factor 4alpha regulation of bile acid and drug metabolism. 54 61
19239393 2009
23
Nuclear receptors as therapeutic targets in cholestatic liver diseases. 61 54
19133988 2009
24
Nuclear receptors: mediators and modifiers of inflammation-induced cholestasis. 61 54
19273222 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
Disturbed colocalization of multidrug resistance protein 2 and radixin in human cholestatic liver diseases. 61 54
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. 54 61
18700187 2008
29
Expression of hepatocyte transporters and nuclear receptors in children with early and late-stage biliary atresia. 61 54
18327154 2008
30
[Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy]. 61 54
18575333 2008
31
Hepatocellular transport in acquired cholestasis: new insights into functional, regulatory and therapeutic aspects. 61 54
18377365 2008
32
Variability in human hepatic MRP4 expression: influence of cholestasis and genotype. 54 61
17404579 2008
33
[Protective and restorative effect of antioxidants in experimental intoxication with chlorophenols]. 54 61
18589727 2008
34
[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]. 54 61
18188816 2008
35
Patterns of correlation of plasma ceruloplasmin in sepsis. 54 61
17688883 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
Evaluation of liver enzyme levels in workers exposed to vinyl chloride vapors in a petrochemical complex: a cross-sectional study. 54 61
17686177 2007
40
Clinical and pathological features of a prolonged type of acute intrahepatic cholestasis. 54 61
17517076 2007
41
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. 61 54
17592371 2007
42
Bezafibrate induces multidrug-resistance P-Glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice. 54 61
17539998 2007
43
Glucagon-like peptide-1 and its receptor agonist exendin-4 modulate cholangiocyte adaptive response to cholestasis. 54 61
17631146 2007
44
Targeting farnesoid X receptor for liver and metabolic disorders. 54 61
17588816 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
MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. 54 61
17295178 2007
49
Role of pituitary hormones on 17alpha-ethinylestradiol-induced cholestasis in rat. 54 61
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. 61 54
17210751 2007
Sources

Variations for Cholestasis

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ClinVar genetic disease variations for Cholestasis:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USP53 NM_019050.2(USP53):c.1012C>T (p.Arg338Ter)SNV Pathogenic 694273 4:120188514-120188514 4:119267359-119267359
2 USP53 NM_019050.2(USP53):c.169C>T (p.Arg57Ter)SNV Pathogenic 694473 4:120166516-120166516 4:119245361-119245361
3 USP53 NM_019050.2(USP53):c.297G>T (p.Arg99Ser)SNV Pathogenic 694474 4:120169962-120169962 4:119248807-119248807
4 USP53 NM_019050.2(USP53):c.583del (p.Arg195fs)deletion Pathogenic 694477 4:120180986-120180986 4:119259831-119259831
5 USP53 NM_001371395.1(USP53):c.832_833AG[3] (p.Val279fs)short repeat Pathogenic 694478 4:120182878-120182879 4:119261723-119261724
6 USP53 NM_019050.2(USP53):c.1426C>T (p.Arg476Ter)SNV Pathogenic 694480 4:120190983-120190983 4:119269828-119269828
7 USP53 NM_019050.2(USP53):c.1558C>T (p.Arg520Ter)SNV Pathogenic 694481 4:120192573-120192573 4:119271418-119271418
8 USP53 NM_019050.2(USP53):c.569+2T>CSNV Pathogenic 694476 4:120177680-120177680 4:119256525-119256525
9 RASL12 , SLC51B NM_178859.4(SLC51B):c.84del (p.Arg29fs)deletion Likely pathogenic 804474 15:65342421-65342421 15:65050083-65050083
10 USP53 NM_019050.2(USP53):c.878G>T (p.Gly293Val)SNV Likely pathogenic 694479 4:120182925-120182925 4:119261770-119261770
11 USP53 NM_019050.2(USP53):c.395A>G (p.His132Arg)SNV Likely pathogenic 694475 4:120177423-120177423 4:119256268-119256268
12 SLC10A1 NM_003049.4(SLC10A1):c.745C>T (p.Arg249Trp)SNV Uncertain significance 500594 rs76966244 14:70245900-70245900 14:69779183-69779183
13 SLC10A1 NM_003049.4(SLC10A1):c.601_611del (p.Ala201fs)deletion no interpretation for the single variant 617633 rs1566634876 14:70246034-70246044 14:69779317-69779327
Sources

Expression for Cholestasis

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Search GEO for disease gene expression data for Cholestasis.
Sources

Pathways for Cholestasis

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Pathways related to Cholestasis according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Synthesis of bile acids and bile salts 65
Show member pathways
 12.09 SLC10A1 NR1H4 HSD3B7 CYP7A1 ABCC3 ABCB11
2
NRF2 pathway 1
11.99 GGT1 ABCC4 ABCC3 ABCC2
3
Hepatic ABC Transporters 63
Show member pathways
 11.9 SLC10A1 ABCC2 ABCB4 ABCB11
4
Statin Pathway - Generalized, Pharmacokinetics 60
Show member pathways
 11.84 ABCC4 ABCC3 ABCC2 ABCB11
5
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 60
Show member pathways
 11.62 ABCC4 ABCC3 ABCC2
6
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.24 NR1I2 NR1H4 CYP7A1 ABCC3 ABCC2 ABCB4
7
Bile secretion 36
11.23 SLC51B SLC10A1 NR1H4 CYP7A1 ABCC4 ABCC3
8
Antifolate resistance 36
11.16 ABCC4 ABCC3 ABCC2
9
Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling 1
10.99 ABCC4 ABCC3 ABCC2
10
Farnesoid X Receptor Pathway 1
10.93 SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
11
Methotrexate Pathway, Pharmacokinetics 60
Show member pathways
 10.91 ABCC4 ABCC3 ABCC2
12
Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.84 ABCC4 ABCC3 ABCC2
13
Drug Induction of Bile Acid Pathway 1
10.84 SLC51B SLC10A1 NR1I2 NR1H4 CYP7A1 ABCC4
14
Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics 60
10.8 NR1I2 ABCC4 ABCC3 ABCC2
15
Etoposide Pathway, Pharmacokinetics/Pharmacodynamics 60
10.73 NR1I2 ABCC3
16
Vinka Alkaloid Pathway, Pharmacokinetics 60
10.54 ABCC3 ABCC2
Sources

GO Terms for Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 VPS33B TJP2 SLC51B SLC25A13 SLC10A1 JAG1
2 integral component of membrane GO:0016021 10.07 SLC51B SLC25A13 SLC10A1 JAG1 HSD3B7 GGT1
3 integral component of plasma membrane GO:0005887 9.56 SLC25A13 SLC10A1 JAG1 ATP8B1 ABCC3 ABCC2
4 apical plasma membrane GO:0016324 9.55 JAG1 ATP8B1 ABCC4 ABCC2 ABCB4
5 HOPS complex GO:0030897 9.32 VPS33B VIPAS39
6 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11

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 SLC51B SLC25A13 SLC10A1 ABCC4 ABCC3 ABCC2
2 cholesterol homeostasis GO:0042632 9.7 NR1I2 NR1H4 CYP7A1
3 organic anion transport GO:0015711 9.54 ABCC3 ABCC2
4 lipid homeostasis GO:0055088 9.54 NR1I2 NR1H4 ABCB4
5 collagen metabolic process GO:0032963 9.51 VPS33B VIPAS39
6 bile acid biosynthetic process GO:0006699 9.5 HSD3B7 CYP7A1 ABCB11
7 bile acid metabolic process GO:0008206 9.49 NR1H4 ATP8B1
8 peptidyl-lysine hydroxylation GO:0017185 9.48 VPS33B VIPAS39
9 bile acid secretion GO:0032782 9.46 SLC51B ABCB4
10 cellular response to bile acid GO:1903413 9.43 NR1H4 ABCB4
11 xenobiotic transport GO:0042908 9.43 NR1I2 ABCC4 ABCC3
12 regulation of bile acid biosynthetic process GO:0070857 9.4 NR1H4 CYP7A1
13 bile acid and bile salt transport GO:0015721 9.17 SLC51B SLC10A1 NR1H4 ATP8B1 ABCC3 ABCC2
14 canalicular bile acid transport GO:0015722 9.13 ABCC3 ABCC2 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 9.62 SLC51B SLC25A13 ABCC3 ABCC2
2 ATPase activity GO:0016887 9.55 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
3 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.43 NR1I2 NR1H4
4 bile acid transmembrane transporter activity GO:0015125 9.4 SLC51B SLC10A1
5 organic anion transmembrane transporter activity GO:0008514 9.37 ABCC3 ABCC2
6 bile acid-exporting ATPase activity GO:0015432 9.26 ABCC3 ABCB11
7 xenobiotic transmembrane transporter activity GO:0042910 9.13 ABCC4 ABCC3 ABCC2
8 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
Sources

Sources for Cholestasis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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