MCID: CHL068
MIFTS: 60

Cholestasis malady

Gastrointestinal diseases, Cardiovascular diseases, Liver diseases categories
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Summaries for Cholestasis

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65Wikipedia, 33MalaCards
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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: Cholestasis, also known as obstruction of bile duct nos, 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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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:



Aliases & Descriptions:

cholestasis 8 10 45 62
obstruction of bile duct nos 8
cardiovascular occlusion 62
obstruction of bile duct 8
occlusion of bile duct 8
bile duct obstruction 45
bile occlusion 8


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Disease Ontology8 DOID:13580
NCIt40 C83006
MeSH35 D002779
ICD9CM27 576.2
ICD1025 K83.1

Related Diseases for Cholestasis

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17GeneCards, 18GeneDecks
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Diseases related to Cholestasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 299)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis32.0SLC25A13
2benign recurrent intrahepatic cholestasis31.4ABCB11, ATP8B1
3extrahepatic cholestasis31.4ABCC2, ABCC1
4hepatitis31.1GPT, SLC17A5, ABCC2
5citrin deficiency31.0SLC25A13
6cholestasis, progressive familial intrahepatic 130.8NR1H4, ATP8B1, ABCB11, ABCB4
7arc syndrome30.8VPS33B
8alagille syndrome30.6ATP8B1, ABCB4
9biliary atresia30.6ATP8B1, NR1H4, SLC25A13, GPT
10cholestasis, progressive familial intrahepatic 330.6ATP8B1, ABCB4, ABCB11
11cholelithiasis30.5ABCB4, ABCB11, GPT
12cholestasis, progressive familial intrahepatic 230.5ABCB4, ATP8B1, ABCB11
13dubin-johnson syndrome30.4ABCC1, ABCC2
14low gamma-gt familial intrahepatic cholestasis30.3ATP8B1, ABCB11
15cholangitis30.2SLC17A5, GPT, ABCB4
16choledocholithiasis30.1GPT, SLC17A5
17hepatitis c30.1ABCB4, GPT, ABCC2, SLC17A5
18galactosemia30.1GPT, SLC17A5, ABCC2, SLC25A13
19obstructive jaundice30.0SLC17A5, GPT
20primary sclerosing cholangitis30.0ABCC2, ABCB4, GPT
21hepatocellular carcinoma29.9ABCC2, GPT, ABCB4, SLC25A13, NR1I3, SLC17A5
22breast cancer29.8ABCB4, NR1H4, ABCC1, ABCB11, NR1I3, ABCC2
23neonatal hemochromatosis29.8SLC25A13, SLC17A5
24primary biliary cirrhosis29.8NR1H4, SLC17A5, NR1I3, GPT, ABCB11, ABCB4
25acute liver failure29.8SLC17A5, GPT
26portal hypertension29.7GPT, SLC17A5
27alcoholic hepatitis29.7SLC17A5, GPT
28wilson disease29.7GPT, SLC17A5
29hypercholesterolemia29.7NR1H4, SLC17A5, GPT
30obesity29.6SLC17A5, NR1H4, NR1I3, GPT
31liver cirrhosis29.5SLC25A13, ABCB11, ABCC1, SLC17A5, GPT, ABCB4
32intrahepatic cholestasis of pregnancy11.0
33neonatal intrahepatic cholestasis caused by citrin deficiency10.6
34liver disease10.4
35aagenaes syndrome10.4
36cystadenoma10.3
37gastrinoma10.3
38amyloidosis10.3
39benign recurrent intrahepatic cholestasis 110.3
40pancreatitis10.3
41benign recurrent intrahepatic cholestasis 210.3
42cholestasis, intrahepatic, of pregnancy, 110.3
43cholestasis, progressive familial intrahepatic 410.2
44gracile syndrome10.2
45gastrointestinal lymphoma10.2
46duodenal gastrinoma10.2
47clonorchiasis10.2
48peutz-jeghers syndrome10.2
49von hippel-lindau disease10.2
50pancreatic cystadenoma10.2

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Cholestasis:

33
Liver, Placenta, Testes, Bone, Kidney, Pituitary, Breast, Colon, Brain, Lung, Thyroid, Appendix, Fetal lung, Fetal liver, Endothelial, T cells, Heart, Skin, Smooth muscle, Bone marrow

Animal Models for Cholestasis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cholestasis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.4SLC17A5, NR1H4, NR1I3, HSD3B7, ATP8B1, ABCB11
2MP:00053707.1ABCB4, SLC25A13, NR1H4, NR1I3, HSD3B7, ATP8B1
3MP:00053765.8ABCC1, ABCB4, ABCB11, ABCC2, ATP8B1, HSD3B7

Publications for Cholestasis

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52PubMed
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Articles related to Cholestasis:

(show top 50)    (show all 1300)
idTitleAuthorsYear
1
Ursodeoxycholic acid in the treatment of intrahepatic cholestasis of pregnancy: a randomized controlled trial. (23978872)
2013
2
Clinical grading of intrahepatic cholestasis pregnancy. (24362672)
2013
3
Primary bile acids as potential biomarkers for the clinical grading of intrahepatic cholestasis of pregnancy. (23562588)
2013
4
Acoustic radiation force impulse elastography: a better option for patients with extrahepatic cholestasis. (22081004)
2012
5
Obstetric cholestasis (OC). (23252069)
2012
6
Early growth response factor-1 limits biliary fibrosis in a model of xenobiotic-induced cholestasis in mice. (22094456)
2012
7
Paucity of biliary ducts: A rare etiology of neonatal cholestasis. (22690284)
2012
8
Reflection on a pregnancy complicated by obstetric cholestasis. (23252070)
2012
9
High incidence of rickets in extremely low birth weight infants with severe parenteral nutrition-associated cholestasis and bronchopulmonary dysplasia. (23255857)
2012
10
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. (21603342)
2011
11
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
12
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
13
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. (20226067)
2010
14
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. (20216097)
2010
15
Bile salts and cholestasis. (20434968)
2010
16
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. (19918981)
2010
17
Long-lasting extracorporeal albumin dialysis in a child with end-stage renal disease and severe cholestasis. (18433409)
2009
18
Genetic cholestasis]. (19753442)
2009
19
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. (19490418)
2009
20
Hepatocellular transport in acquired cholestasis: new insights into functional, regulatory and therapeutic aspects. (18377365)
2008
21
SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids]. (18578996)
2008
22
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (18083082)
2008
23
Fluvastatin reduced liver injury in rat model of extrahepatic cholestasis. (17086424)
2007
24
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
25
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. (17706492)
2007
26
Clinical and experimental study on wuling pill in treating gestation period intrahepatic cholestasis]. (16548349)
2006
27
Pyloric obstruction, duodenal dilatation, and extrahepatic cholestasis: a neonatal triad suggesting multiple intestinal atresias. (17011287)
2006
28
Necrotizing hepatitis and intrahepatic cholestasis associated to Cryptococcus sp. and Pneumocystis carinii. (17151583)
2006
29
Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu]. (16909599)
2006
30
Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. (16458994)
2006
31
Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet. (16363353)
2005
32
Exercising the nuclear option to treat cholestasis: CAR and PXR ligands. (16025508)
2005
33
Promoter polymorphism of the CD14 endotoxin receptor gene is associated with biliary atresia and idiopathic neonatal cholestasis. (16061600)
2005
34
Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. (16235123)
2005
35
Microsurgical extrahepatic cholestasis in the rat: a long-term study. (15204716)
2004
36
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. (12717091)
2003
37
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
38
Intrahepatic cholestasis after liver transplantation. (14607733)
2002
39
HLA-A33/B44/DR6 is highly related to intrahepatic cholestasis induced by tiopronin. (10877223)
2000
40
Oral guar gum, a gel-forming dietary fiber relieves pruritus in intrahepatic cholestasis of pregnancy. (10746839)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 51PharmGKB, 53QIAGEN, 30KEGG, 55Reactome, 38NCBI BioSystems Database
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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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45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1fusidic acid45 1110.9ABCC2, ABCB11
2potassium antimonyltartrate459.7ABCC2, ABCC1
3cmfda459.7ABCC1, ABCC2
4gf 120918459.6ABCC2, ABCB11, ABCC1
5psc-833459.6ABCB11, ABCC1, ABCC2
6ly335979459.6ABCC2, ABCB11, ABCC1
7Taurocholic acid24 1110.5ABCB11, ABCC2, ABCC1
8estradiol-17beta-glucuronide459.5ABCC1, ABCB4, ABCC2
9cyclosporine51 1110.5ABCC2, ABCB11, ABCC1
10rifampin51 1110.5ABCC2, ABCC1, ABCB11
11tenofovir45 51 1111.5GPT, ABCC2, SLC17A5
12saquinavir45 1110.4ABCC1, ABCB11, ABCC2
13quinidine45 29 51 1112.4ABCC1, ABCB11, ABCC2
14ezetimibe45 1110.4GPT, ABCC2, SLC17A5
15rhodamine 12345 5110.3ABCB4, ABCC1, ABCB11, ABCC2
16bezafibrate45 29 1111.3GPT, SLC17A5, ABCB4
17daunorubicin45 51 1111.2ABCC2, ABCB4, ABCC1, ABCB11
18lithocholic acid45 29 2411.2NR1H4, NR1I3, ABCB11
19vincristine45 51 1111.2ABCC2, ABCB11, ABCC1, ABCB4
20adriamycin459.2ABCC1, ABCC2, ABCB11, ABCB4
21digoxin45 61 51 24 1113.1SLC17A5, ABCC2, ABCC1, ABCB11
22cholic acid45 29 24 1112.1ABCB11, ABCC2, NR1H4, ABCC1
23urea45 24 1111.0ABCC2, GPT, SLC17A5, SLC25A13
24adefovir458.9SLC17A5, ABCC1, ABCC2, GPT
25ritonavir45 51 1110.9ABCB11, ABCC1, ABCC2
26lamivudine45 51 1110.9SLC17A5, GPT, ABCC1, ABCC2
27tacrolimus45 51 1110.9ABCC2, ABCB11, GPT, ABCB4, SLC17A5
28androstane458.9ABCC2, NR1I3, NR1H4
29phenytoin45 51 29 1111.9NR1I3, ABCC2, ABCB11, SLC17A5
30chloride458.8SLC17A5, GPT, ABCC2, ABCB11
31zidovudine45 51 1110.8ABCC1, SLC17A5, ABCC2, GPT
32atorvastatin45 51 29 24 1112.8GPT, ABCC1, SLC17A5, ABCC2
33colchicine45 61 3 29 1112.8ABCB11, ABCB4, NR1I3, ABCC1
34rosuvastatin45 51 29 1111.7GPT, ABCC2, ABCB11, SLC17A5, ABCC1
35acetaminophen45 3 51 24 1112.6NR1I3, ABCC2, GPT, SLC17A5
36phosphorus458.6SLC17A5, NR1I3, GPT
37taurocholate458.5ATP8B1, ABCC1, NR1H4, ABCB4, ABCB11, ABCC2
38methotrexate51 45 1110.5ABCB4, ABCC2, GPT, SLC17A5, ABCC1
39ursodeoxycholic acid45 24 1110.4NR1H4, SLC17A5, ABCB11, GPT, ABCB4, ABCC2
40paclitaxel45 51 1110.4ABCC1, ABCB4, ABCB11, ABCC2, NR1I3
41glycocholate458.3ABCC2, SLC17A5, ABCC1, ABCB4, ABCB11, GPT
42verapamil45 29 51 24 1112.3GPT, ABCB11, ABCB4, ABCC1, ABCC2, SLC17A5
43chenodeoxycholic acid45 29 24 1111.1ABCB4, GPT, ABCC2, NR1I3, NR1H4, ABCB11
44sodium45 248.9SLC17A5, NR1H4, ABCC2, GPT, NR1I3
45progesterone45 29 61 24 1111.8ABCC1, ABCB11, ABCC2, NR1H4, NR1I3
46rifampicin45 29 619.8ABCB11, ABCC2, NR1I3, SLC17A5, ABCC1, GPT
47phenobarbital45 29 51 1110.8NR1I3, SLC17A5, GPT, ABCC2, ABCB11, ABCC1
48cholesterol45 29 24 1110.7ABCB4, ABCB11, NR1H4, ATP8B1, GPT, NR1I3
49cyclosporin a45 29 619.5NR1I3, ABCC1, ABCB11, ABCC2, ABCB4, GPT
50lipid457.3NR1H4, SLC17A5, NR1I3, ATP8B1, ABCB11, GPT

GO Terms for genes affiliated with Cholestasis

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16Gene Ontology
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Cellular components related to Cholestasis according to GeneCards/GeneDecks:

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

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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Sources for Cholestasis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet