MCID: CHL068
MIFTS: 59

Cholestasis malady

Gastrointestinal diseases, Liver diseases categories
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Summaries for Cholestasis

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Wikipedia:65 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 intrahepatic cholestasis and benign recurrent intrahepatic cholestasis. 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:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
See all sources

Cholestasis, Aliases & Descriptions:

Name: Cholestasis 8 10 44 62
Obstruction of Bile Duct 8 62
 
Bile Duct Obstruction 44 62
Bile Occlusion 8 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:13580
NCIt39 C83006
MeSH34 D002779
ICD9CM27 576.2
ICD1025 K83.1

Related Diseases for Cholestasis

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

(show top 50)    (show all 315)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis32.6SLC25A13
2benign recurrent intrahepatic cholestasis31.9ABCB11, ATP8B1
3extrahepatic cholestasis31.6ABCC2, ABCC1
4citrin deficiency31.5SLC25A13
5arc syndrome31.5VPS33B
6hepatitis31.1GPT, SLC17A5, ABCC2
7alagille syndrome31.0ATP8B1, ABCB4
8cholestasis, progressive familial intrahepatic 130.9NR1H4, ATP8B1, ABCB11, ABCB4
9cholestasis, progressive familial intrahepatic 330.9ATP8B1, ABCB4, ABCB11
10cholestasis, progressive familial intrahepatic 230.8ABCB4, ATP8B1, ABCB11
11low gamma-gt familial intrahepatic cholestasis30.8ATP8B1, ABCB11
12cholelithiasis30.7ABCB4, ABCB11, GPT
13dubin-johnson syndrome30.6ABCC1, ABCC2
14biliary atresia30.6ATP8B1, NR1H4, SLC25A13, GPT
15choledocholithiasis30.4GPT, SLC17A5
16cholangitis30.3SLC17A5, GPT, ABCB4
17obstructive jaundice30.2SLC17A5, GPT
18primary sclerosing cholangitis30.1ABCC2, ABCB4, GPT
19neonatal hemochromatosis30.1SLC25A13, SLC17A5
20hepatitis c30.0ABCB4, GPT, ABCC2, SLC17A5
21acute liver failure30.0SLC17A5, GPT
22hellp syndrome29.9SLC17A5, GPT
23galactosemia29.9GPT, SLC17A5, ABCC2, SLC25A13
24portal hypertension29.9GPT, SLC17A5
25alcoholic hepatitis29.9SLC17A5, GPT
26wilson disease29.7GPT, SLC17A5
27hypercholesterolemia29.6NR1H4, SLC17A5, GPT
28obesity29.1SLC17A5, NR1H4, NR1I3, GPT
29breast cancer29.0ABCB4, NR1H4, ABCC1, ABCB11, NR1I3, ABCC2
30liver cirrhosis29.0SLC25A13, ABCB11, ABCC1, SLC17A5, GPT, ABCB4
31primary biliary cirrhosis28.9NR1H4, SLC17A5, NR1I3, GPT, ABCB11, ABCB4
32liver cancer28.4ABCC2, GPT, ABCB4, SLC25A13, NR1I3, SLC17A5
33intrahepatic cholestasis of pregnancy11.1
34neonatal intrahepatic cholestasis caused by citrin deficiency10.6
35aagenaes syndrome10.5
36liver disease10.4
37cholestasis, intrahepatic, of pregnancy, 110.4
38cystadenoma10.4
39gastrinoma10.4
40amyloidosis10.4
41benign recurrent intrahepatic cholestasis 110.4
42pancreatitis10.3
43benign recurrent intrahepatic cholestasis 210.3
44gracile syndrome10.3
45neonatal jaundice10.3NR1I3
46colchicine resistance10.2ABCB11, ABCC1
47duodenal gastrinoma10.2
48von hippel-lindau disease10.2
49gastrointestinal lymphoma10.2
50clonorchiasis10.2

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:

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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:

32
Liver, Placenta, Testes, Bone, Kidney, 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:

36
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 1361)
idTitleAuthorsYear
1
Placental gene-expression profiles of intrahepatic cholestasis of pregnancy reveal involvement of multiple molecular pathways in blood vessel formation and inflammation. (25001852)
2014
2
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
3
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice. (24991443)
2014
4
Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4 Genes Are Not Detectable in Circulating Maternal Plasma. (25059952)
2014
5
Ursodeoxycholic acid in the treatment of intrahepatic cholestasis of pregnancy: a randomized controlled trial. (23978872)
2013
6
Clinical grading of intrahepatic cholestasis pregnancy. (24362672)
2013
7
Primary bile acids as potential biomarkers for the clinical grading of intrahepatic cholestasis of pregnancy. (23562588)
2013
8
Acoustic radiation force impulse elastography: a better option for patients with extrahepatic cholestasis. (22081004)
2012
9
Obstetric cholestasis (OC). (23252069)
2012
10
Early growth response factor-1 limits biliary fibrosis in a model of xenobiotic-induced cholestasis in mice. (22094456)
2012
11
Paucity of biliary ducts: A rare etiology of neonatal cholestasis. (22690284)
2012
12
Reflection on a pregnancy complicated by obstetric cholestasis. (23252070)
2012
13
High incidence of rickets in extremely low birth weight infants with severe parenteral nutrition-associated cholestasis and bronchopulmonary dysplasia. (23255857)
2012
14
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. (21603342)
2011
15
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
16
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
17
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. (20226067)
2010
18
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. (20216097)
2010
19
Bile salts and cholestasis. (20434968)
2010
20
Long-lasting extracorporeal albumin dialysis in a child with end-stage renal disease and severe cholestasis. (18433409)
2009
21
Genetic cholestasis]. (19753442)
2009
22
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. (19490418)
2009
23
Hepatocellular transport in acquired cholestasis: new insights into functional, regulatory and therapeutic aspects. (18377365)
2008
24
SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids]. (18578996)
2008
25
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (18083082)
2008
26
Fluvastatin reduced liver injury in rat model of extrahepatic cholestasis. (17086424)
2007
27
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
28
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. (17706492)
2007
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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Expression patterns in normal tissues for genes affiliated with Cholestasis

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/GeneDecks:

(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/GeneDecks:

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1fusidic acid44 1110.9ABCC2, ABCB11
2potassium antimonyltartrate449.7ABCC2, ABCC1
3cmfda449.7ABCC1, ABCC2
4gf 120918449.6ABCC2, ABCB11, ABCC1
5psc-833449.6ABCB11, ABCC1, ABCC2
6ly335979449.6ABCC2, ABCB11, ABCC1
7Taurocholic acid24 1110.5ABCB11, ABCC2, ABCC1
8estradiol-17beta-glucuronide449.5ABCC1, ABCB4, ABCC2
9cyclosporine50 1110.5ABCC2, ABCB11, ABCC1
10rifampin50 1110.5ABCC2, ABCC1, ABCB11
11tenofovir44 50 1111.5GPT, ABCC2, SLC17A5
12saquinavir44 1110.4ABCC1, ABCB11, ABCC2
13quinidine44 28 50 1112.4ABCC1, ABCB11, ABCC2
14ezetimibe44 1110.4GPT, ABCC2, SLC17A5
15rhodamine 12344 5010.3ABCB4, ABCC1, ABCB11, ABCC2
16bezafibrate44 28 1111.3GPT, SLC17A5, ABCB4
17daunorubicin44 50 1111.2ABCC2, ABCB4, ABCC1, ABCB11
18lithocholic acid44 28 2411.2NR1H4, NR1I3, ABCB11
19vincristine44 50 1111.2ABCC2, ABCB11, ABCC1, ABCB4
20adriamycin449.2ABCC1, ABCC2, ABCB11, ABCB4
21digoxin44 61 50 24 1113.1SLC17A5, ABCC2, ABCC1, ABCB11
22cholic acid44 28 24 1112.1ABCB11, ABCC2, NR1H4, ABCC1
23urea44 24 1111.0ABCC2, GPT, SLC17A5, SLC25A13
24adefovir448.9SLC17A5, ABCC1, ABCC2, GPT
25ritonavir44 50 1110.9ABCB11, ABCC1, ABCC2
26lamivudine44 50 1110.9SLC17A5, GPT, ABCC1, ABCC2
27tacrolimus44 50 1110.9ABCC2, ABCB11, GPT, ABCB4, SLC17A5
28androstane448.9ABCC2, NR1I3, NR1H4
29phenytoin44 50 28 1111.9NR1I3, ABCC2, ABCB11, SLC17A5
30chloride448.8SLC17A5, GPT, ABCC2, ABCB11
31zidovudine44 50 1110.8ABCC1, SLC17A5, ABCC2, GPT
32atorvastatin44 50 28 24 1112.8GPT, ABCC1, SLC17A5, ABCC2
33colchicine44 61 2 28 1112.8ABCB11, ABCB4, NR1I3, ABCC1
34rosuvastatin44 50 28 1111.7GPT, ABCC2, ABCB11, SLC17A5, ABCC1
35acetaminophen44 2 50 24 1112.6NR1I3, ABCC2, GPT, SLC17A5
36phosphorus448.6SLC17A5, NR1I3, GPT
37taurocholate448.5ATP8B1, ABCC1, NR1H4, ABCB4, ABCB11, ABCC2
38methotrexate50 44 1110.5ABCB4, ABCC2, GPT, SLC17A5, ABCC1
39ursodeoxycholic acid44 24 1110.4NR1H4, SLC17A5, ABCB11, GPT, ABCB4, ABCC2
40paclitaxel44 50 1110.4ABCC1, ABCB4, ABCB11, ABCC2, NR1I3
41glycocholate448.3ABCC2, SLC17A5, ABCC1, ABCB4, ABCB11, GPT
42verapamil44 28 50 24 1112.3GPT, ABCB11, ABCB4, ABCC1, ABCC2, SLC17A5
43chenodeoxycholic acid44 28 24 1111.1ABCB4, GPT, ABCC2, NR1I3, NR1H4, ABCB11
44sodium44 248.9SLC17A5, NR1H4, ABCC2, GPT, NR1I3
45progesterone44 28 61 24 1111.8ABCC1, ABCB11, ABCC2, NR1H4, NR1I3
46rifampicin44 28 619.8ABCB11, ABCC2, NR1I3, SLC17A5, ABCC1, GPT
47phenobarbital44 28 50 1110.8NR1I3, SLC17A5, GPT, ABCC2, ABCB11, ABCC1
48cholesterol44 28 24 1110.7ABCB4, ABCB11, NR1H4, ATP8B1, GPT, NR1I3
49cyclosporin a44 28 619.5NR1I3, ABCC1, ABCB11, ABCC2, ABCB4, GPT
50lipid447.3NR1H4, SLC17A5, NR1I3, ATP8B1, ABCB11, GPT

GO Terms for genes affiliated with Cholestasis

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Cellular components related to Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1HOPS complexGO:0308979.9VPS33B, VIPAS39
2intercellular canaliculusGO:0465819.5ABCB4, ABCB11, ABCC2
3apical plasma membraneGO:0163248.9ABCC2, ABCB4, ABCB11, ATP8B1
4integral component of plasma membraneGO:0058877.6SLC25A13, ABCC1, ABCB4, ABCB11, SLC17A5, ABCC2

Biological processes related to Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bile acid biosynthetic processGO:0066999.9HSD3B7, ABCB11
2bile acid and bile salt transportGO:0157219.7ATP8B1, ABCB11
3bile acid metabolic processGO:0082069.3NR1H4, HSD3B7, ATP8B1, ABCB11
4transportGO:0068108.5ABCC1, ABCB4, ABCB11, ABCC2, SLC25A13
5transmembrane transportGO:0550858.1ABCC1, ABCB4, ABCB11, ABCC2, ATP8B1, SLC17A5
6small molecule metabolic processGO:0442818.0ABCC1, ABCB4, ABCB11, GPT, HSD3B7, SLC25A13

Molecular functions related to Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transporter activityGO:0052159.2SLC25A13, ABCB11, ABCC1
2thyroid hormone receptor activityGO:0048878.8NR1H4, NR1I3
3ATPase activity, coupled to transmembrane movement of substancesGO:0426268.7ABCC2, ABCB11, ABCB4, ABCC1

Products for genes affiliated with Cholestasis

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  • Antibodies
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Sources for Cholestasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet