MCID: CHL068
MIFTS: 50

Cholestasis malady

Gastrointestinal diseases, Liver diseases categories

Summaries for Cholestasis

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Wikipedia:63 In medicine, cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two... more...

MalaCards based summary: Cholestasis, also known as obstruction of bile duct, is related to extrahepatic cholestasis and cholestasis, benign recurrent intrahepatic. An important gene associated with Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Hepatic ABC Transporters. The compounds fusidic acid and potassium antimonyltartrate have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and testes, and related mouse phenotypes are growth/size/body and liver/biliary system.

Aliases & Classifications for Cholestasis

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 27ICD9CM, 38NCIt, 55SNOMED-CT, 33MeSH, 25ICD10
See all sources

Cholestasis, Aliases & Descriptions:

Name: Cholestasis 9 11 43 60
Obstruction of Bile Duct 9
 
Bile Duct Obstruction 43
Bile Occlusion 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal diseases, Liver diseases


External Ids:

Disease Ontology9 DOID:13580
ICD9CM27 576.2
NCIt38 C83006
MeSH33 D002779
ICD1025 K83.1

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 315)
idRelated DiseaseScoreTop Affiliating Genes
1extrahepatic cholestasis31.6ABCC1, ABCC2
2cholestasis, benign recurrent intrahepatic31.6ATP8B1, ABCB11
3arthrogryposis, renal dysfunction, and cholestasis 131.4VPS33B
4hepatitis31.0SLC17A5, GPT, ABCC2
5alagille syndrome31.0ABCB4, ATP8B1
6cholestasis, progressive familial intrahepatic 331.0ABCB4, ABCB11, ATP8B1
7cholestasis, progressive familial intrahepatic 231.0ATP8B1, ABCB11, ABCB4
8cholestasis, progressive familial intrahepatic 131.0ABCB4, ABCB11, ATP8B1, NR1H4
9low gamma-gt familial intrahepatic cholestasis30.9ATP8B1, ABCB11
10liver disease30.7NR1H4, ATP8B1, ABCB11, ABCB4
11cholelithiasis30.7GPT, ABCB11, ABCB4
12dubin-johnson syndrome30.6ABCC1, ABCC2
13cholangitis, primary sclerosing30.5GPT, ABCC2, ABCB4
14biliary atresia30.5ATP8B1, GPT, NR1H4, SLC25A13
15citrullinemia, adult-onset type ii30.4SLC25A13
16choledocholithiasis30.4SLC17A5, GPT
17neonatal hemochromatosis30.3SLC17A5, SLC25A13
18cholangitis30.3ABCB4, GPT, SLC17A5
19obstructive jaundice30.2GPT, SLC17A5
20intrahepatic cholestasis30.2SLC25A13, SLC17A5, NR1H4, NR1I3, ATP8B1, ABCC2
21portal hypertension30.1GPT, SLC17A5
22hepatitis c30.1ABCB4, ABCC2, GPT, SLC17A5
23acute liver failure29.9GPT, SLC17A5
24hellp syndrome29.9SLC17A5, GPT
25alcoholic hepatitis29.9GPT, SLC17A5
26galactosemia29.9SLC25A13, SLC17A5, GPT, ABCC2
27wilson disease29.7GPT, SLC17A5
28obesity29.1SLC17A5, NR1H4, NR1I3, GPT
29breast cancer29.0ABCC1, ABCB4, ABCB11, ABCC2, NR1I3, NR1H4
30liver cirrhosis29.0ABCC1, ABCB4, ABCB11, GPT, SLC17A5, SLC25A13
31hepatocellular carcinoma28.9ABCC1, ABCB4, ABCC2, GPT, NR1I3, SLC17A5
32primary biliary cirrhosis28.9ABCB4, ABCB11, ABCC2, GPT, NR1I3, NR1H4
33cholestasis-lymphedema syndrome10.4
34cholestasis, benign recurrent intrahepatic, 210.4
35citrullinemia, type ii, neonatal-onset10.4
36amyloidosis10.4
37cystadenoma10.4
38gastrinoma10.4
39pancreatitis10.4
40gracile syndrome10.3
41cholestasis, intrahepatic, of pregnancy, 310.3
42cholestasis, intrahepatic, of pregnancy, 110.3
43cholestasis, progressive familial intrahepatic 410.3
44neonatal jaundice10.2NR1I3
45colchicine resistance10.2ABCC1, ABCB11
46peutz-jeghers syndrome10.2
47gastrointestinal lymphoma10.2
48duodenal gastrinoma10.2
49clonorchiasis10.2
50neuroendocrine tumor10.2

Graphical network of the top 20 diseases related to Cholestasis:



Diseases related to cholestasis

Symptoms for Cholestasis

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Drugs & Therapeutics for Cholestasis

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Drug clinical trials:

Search ClinicalTrials for Cholestasis

Search NIH Clinical Center for Cholestasis

Genetic Tests for Cholestasis

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Anatomical Context for Cholestasis

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MalaCards organs/tissues related to Cholestasis:

31
Liver, Placenta, Testes, Kidney, Bone, Brain, Lung, Breast, Pituitary, Colon, Neutrophil, Bone marrow, Heart, Smooth muscle, Small intestine, Thyroid, Skin, T cells, Endothelial, Fetal liver, Fetal lung, Appendix

Animal Models for Cholestasis or affiliated genes

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MGI Mouse Phenotypes related to Cholestasis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.4ATP8B1, HSD3B7, NR1I3, NR1H4, SLC17A5, SLC25A13
2MP:00053707.1SLC25A13, ABCB4, ABCB11, ABCC2, ATP8B1, HSD3B7
3MP:00053765.8ABCC1, ABCB4, ABCB11, ABCC2, ATP8B1, HSD3B7

Publications for Cholestasis

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Articles related to Cholestasis:

(show top 50)    (show all 1388)
idTitleAuthorsYear
1
Acute fatty liver of pregnancy with hypoglycaemia, diabetes insipidus and pancreatitis, preceded by intrahepatic cholestasis of pregnancy. (25878236)
2015
2
Intrahepatic cholestasis of pregnancy: maternal and fetal outcomes associated with elevated bile acid levels. (25818669)
2015
3
Placental gene-expression profiles of intrahepatic cholestasis of pregnancy reveal involvement of multiple molecular pathways in blood vessel formation and inflammation. (25001852)
2014
4
Effect of taurocholic acid on fetoplacental arterial pressures in a dual perfusion placental cotyledon model: a novel approach to intrahepatic cholestasis of pregnancy. (25098026)
2014
5
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice. (24991443)
2014
6
Ursodeoxycholic acid in the treatment of intrahepatic cholestasis of pregnancy: a randomized controlled trial. (23978872)
2013
7
Clinical grading of intrahepatic cholestasis pregnancy. (24362672)
2013
8
Primary bile acids as potential biomarkers for the clinical grading of intrahepatic cholestasis of pregnancy. (23562588)
2013
9
Acoustic radiation force impulse elastography: a better option for patients with extrahepatic cholestasis. (22081004)
2012
10
Obstetric cholestasis (OC). (23252069)
2012
11
Early growth response factor-1 limits biliary fibrosis in a model of xenobiotic-induced cholestasis in mice. (22094456)
2012
12
Paucity of biliary ducts: A rare etiology of neonatal cholestasis. (22690284)
2012
13
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. (21603342)
2011
14
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
15
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
16
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. (20226067)
2010
17
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. (20216097)
2010
18
Bile salts and cholestasis. (20434968)
2010
19
Long-lasting extracorporeal albumin dialysis in a child with end-stage renal disease and severe cholestasis. (18433409)
2009
20
Genetic cholestasis]. (19753442)
2009
21
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. (19490418)
2009
22
Hepatocellular transport in acquired cholestasis: new insights into functional, regulatory and therapeutic aspects. (18377365)
2008
23
SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids]. (18578996)
2008
24
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (18083082)
2008
25
Fluvastatin reduced liver injury in rat model of extrahepatic cholestasis. (17086424)
2007
26
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
27
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. (17706492)
2007
28
Clinical and experimental study on wuling pill in treating gestation period intrahepatic cholestasis]. (16548349)
2006
29
Pyloric obstruction, duodenal dilatation, and extrahepatic cholestasis: a neonatal triad suggesting multiple intestinal atresias. (17011287)
2006
30
Necrotizing hepatitis and intrahepatic cholestasis associated to Cryptococcus sp. and Pneumocystis carinii. (17151583)
2006
31
Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu]. (16909599)
2006
32
Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. (16458994)
2006
33
Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet. (16363353)
2005
34
Exercising the nuclear option to treat cholestasis: CAR and PXR ligands. (16025508)
2005
35
Promoter polymorphism of the CD14 endotoxin receptor gene is associated with biliary atresia and idiopathic neonatal cholestasis. (16061600)
2005
36
Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. (16235123)
2005
37
Microsurgical extrahepatic cholestasis in the rat: a long-term study. (15204716)
2004
38
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
39
Intrahepatic cholestasis after liver transplantation. (14607733)
2002
40
HLA-A33/B44/DR6 is highly related to intrahepatic cholestasis induced by tiopronin. (10877223)
2000
41
Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. (10487283)
1999
42
The ultrasonographic 'triangular cord' coupled with gallbladder images in the diagnostic prediction of biliary atresia from infantile intrahepatic cholestasis. (10591576)
1999
43
Intrahepatic cholestasis related to vanishing bile duct syndrome in Hodgkin's disease. (9144127)
1997
44
Use of cholecystokinin to prevent the development of parenteral nutrition-associated cholestasis. (9084013)
1997
45
Total parenteral nutrition-associated cholestasis in surgical neonates may be reversed by intravenous cholecystokinin: a preliminary report. (7666317)
1995
46
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. (7894490)
1994
47
Endogenous digitalis-like factor in liver cirrhosis and cholestasis]. (7483706)
1993
48
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
1992
49
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. (6852450)
1983
50
Glucose phosphate isomerase and glutathione reductase in benign and malignant extrahepatic cholestasis. (7471438)
1981

Variations for Cholestasis

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Expression for genes affiliated with Cholestasis

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Search GEO for disease gene expression data for Cholestasis.

Pathways for genes affiliated with Cholestasis

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Pathways related to Cholestasis according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ABCC2, ABCB11
2
Show member pathways
9.5ABCC2, ABCB11, ABCB4
3
Show member pathways
9.4ABCC2, ABCC1
49.4ABCC1, ABCC2
59.4ABCC1, ABCC2
69.2NR1I3, ABCC2
78.9ABCB4, ABCB11, ABCC2, NR1H4
8
Show member pathways
8.8ABCC1, ABCB4, ABCB11, ABCC2
9
Show member pathways
8.7SLC17A5, ATP8B1, ABCC2, ABCC1
108.5ABCB11, ABCC2, NR1I3, NR1H4
11
Show member pathways
8.1ABCC1, ABCB4, ABCB11, GPT, HSD3B7, SLC25A13
128.1NR1H4, NR1I3, ABCC2, ABCB11, ABCB4

Compounds for genes affiliated with Cholestasis

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Compounds related to Cholestasis according to GeneCards Suite gene sharing:

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1fusidic acid43 1210.9ABCC2, ABCB11
2potassium antimonyltartrate439.7ABCC1, ABCC2
3cmfda439.7ABCC1, ABCC2
4gf 120918439.6ABCC2, ABCB11, ABCC1
5psc-833439.6ABCC1, ABCB11, ABCC2
6ly335979439.6ABCC1, ABCB11, ABCC2
7Taurocholic acid24 1210.5ABCC2, ABCB11, ABCC1
8estradiol-17beta-glucuronide439.5ABCC2, ABCB4, ABCC1
9cyclosporine49 1210.5ABCC1, ABCB11, ABCC2
10rifampin49 1210.5ABCC2, ABCB11, ABCC1
11tenofovir43 49 1211.5SLC17A5, GPT, ABCC2
12saquinavir43 1210.4ABCC2, ABCB11, ABCC1
13quinidine43 28 49 1212.4ABCC1, ABCB11, ABCC2
14ezetimibe43 1210.4ABCC2, GPT, SLC17A5
15bezafibrate43 28 1211.3ABCB4, GPT, SLC17A5
16rhodamine 12343 4910.3ABCC1, ABCB4, ABCB11, ABCC2
17daunorubicin43 49 1211.2ABCC1, ABCB4, ABCB11, ABCC2
18lithocholic acid43 28 2411.2NR1H4, NR1I3, ABCB11
19vincristine43 49 1211.2ABCC2, ABCB11, ABCB4, ABCC1
20adriamycin439.2ABCC1, ABCB4, ABCB11, ABCC2
21digoxin43 59 49 24 1213.1ABCC1, ABCB11, ABCC2, SLC17A5
22cholic acid43 28 24 1212.1ABCC1, ABCB11, ABCC2, NR1H4
23urea43 24 1211.0ABCC2, GPT, SLC17A5, SLC25A13
24adefovir438.9ABCC1, ABCC2, GPT, SLC17A5
25ritonavir43 49 1210.9ABCC1, ABCB11, ABCC2
26lamivudine43 49 1210.9ABCC1, ABCC2, GPT, SLC17A5
27tacrolimus43 49 1210.9SLC17A5, GPT, ABCC2, ABCB11, ABCB4
28phenytoin43 49 28 1211.9ABCB11, ABCC2, NR1I3, SLC17A5
29chloride438.8ABCB11, ABCC2, GPT, SLC17A5
30androstane438.8ABCC2, NR1I3, NR1H4
31zidovudine43 49 1210.8ABCC1, ABCC2, GPT, SLC17A5
32atorvastatin43 49 28 24 1212.8ABCC1, ABCC2, GPT, SLC17A5
33colchicine43 59 2 28 1212.8NR1I3, ABCB11, ABCB4, ABCC1
34rosuvastatin43 49 28 1211.7ABCC1, ABCB11, ABCC2, GPT, SLC17A5
35acetaminophen43 2 49 24 1212.6ABCC2, GPT, NR1I3, SLC17A5
36phosphorus438.6SLC17A5, NR1I3, GPT
37taurocholate438.5ABCC1, ABCB4, ABCB11, ABCC2, ATP8B1, NR1H4
38methotrexate49 43 1210.5ABCC1, ABCB4, ABCC2, GPT, SLC17A5
39ursodeoxycholic acid43 24 1210.4ABCB4, ABCB11, ABCC2, GPT, NR1H4, SLC17A5
40paclitaxel43 49 1210.4ABCC1, ABCB4, ABCB11, ABCC2, NR1I3
41glycocholate438.3SLC17A5, GPT, ABCC2, ABCB11, ABCB4, ABCC1
42verapamil43 28 49 24 1212.3ABCC1, ABCB4, ABCB11, ABCC2, GPT, SLC17A5
43chenodeoxycholic acid43 28 24 1211.1ABCB4, ABCB11, ABCC2, GPT, NR1I3, NR1H4
44sodium43 248.9SLC17A5, NR1H4, NR1I3, GPT, ABCC2
45progesterone43 28 59 24 1211.8NR1H4, NR1I3, ABCC2, ABCB11, ABCC1
46rifampicin43 28 599.8ABCC1, ABCB11, ABCC2, GPT, NR1I3, SLC17A5
47phenobarbital43 28 49 1210.8ABCC1, ABCB11, ABCC2, GPT, NR1I3, SLC17A5
48cholesterol43 28 24 1210.7ABCB4, ABCB11, ATP8B1, GPT, NR1I3, NR1H4
49cyclosporin a43 28 599.5ABCC1, ABCB4, ABCB11, ABCC2, GPT, NR1I3
50lipid437.3ABCB4, ABCB11, ABCC2, ATP8B1, GPT, NR1I3

GO Terms for genes affiliated with Cholestasis

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

idNameGO IDScoreTop Affiliating Genes
1HOPS complexGO:00308979.9VIPAS39, VPS33B
2intercellular canaliculusGO:00465819.5ABCC2, ABCB11, ABCB4
3apical plasma membraneGO:00163248.9ATP8B1, ABCC2, ABCB11, ABCB4
4integral component of plasma membraneGO:00058877.6ABCC1, ABCB4, ABCB11, ABCC2, ATP8B1, SLC17A5

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

idNameGO IDScoreTop Affiliating Genes
1bile acid biosynthetic processGO:00066999.9HSD3B7, ABCB11
2bile acid and bile salt transportGO:00157219.7ATP8B1, ABCB11
3bile acid metabolic processGO:00082069.3NR1H4, HSD3B7, ATP8B1, ABCB11
4transportGO:00068108.5ABCC1, ABCB4, ABCB11, ABCC2, SLC25A13
5transmembrane transportGO:00550858.1ABCC1, ABCB4, ABCB11, ABCC2, ATP8B1, SLC17A5
6small molecule metabolic processGO:00442818.0ABCC1, ABCB4, ABCB11, GPT, HSD3B7, SLC25A13

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

idNameGO IDScoreTop Affiliating Genes
1transporter activityGO:00052159.2SLC25A13, ABCB11, ABCC1
2thyroid hormone receptor activityGO:00048878.8NR1H4, NR1I3
3ATPase activity, coupled to transmembrane movement of substancesGO:00426268.7ABCC2, ABCB11, ABCB4, ABCC1

Products for genes affiliated with Cholestasis

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Sources for Cholestasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet