MCID: CHL068
MIFTS: 55

Cholestasis malady

Gastrointestinal category

Summaries for Cholestasis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 extrahepatic cholestasis. An important gene associated with Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Metabolism and Nuclear receptors in lipid metabolism and toxicity. The compounds lipid and ursodeoxycholic acid have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and growth/size.

Aliases & Classifications for Cholestasis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 27ICD9CM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

cholestasis 8 10 45 61
obstruction of bile duct nos 8
cardiovascular occlusion 61
obstruction of bile duct 8
occlusion of bile duct 8
bile duct obstruction 45
bile occlusion 8


External Ids:

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

Related Diseases for Cholestasis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 292)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis31.8SLC25A13
2extrahepatic cholestasis31.3ABCC2, ABCC1, GGT1
3benign recurrent intrahepatic cholestasis31.2ABCB11, ATP8B1
4cholestasis, progressive familial intrahepatic 130.8GGT1, SLC10A2, ABCB4, ABCB11, NR1H4, ATP8B1
5citrin deficiency30.8SLC25A13
6hepatitis c30.7ABCC2, SLC17A5, F2, GGT1, GPT
7biliary atresia30.5ATP8B1, NR1H4, GGT1, SLC10A2, SLC25A13, GPT
8alagille syndrome30.5ATP8B1, ABCB4
9hepatitis a30.5F2
10cholestasis, progressive familial intrahepatic 330.4ABCB4, ATP8B1, ABCB11
11cholelithiasis30.4GGT1, GPT, ABCB11, ABCB4
12cholestasis, progressive familial intrahepatic 230.4ABCB4, ABCB11, ATP8B1
13hepatitis b30.3F2, GGT1, GPT, SLC17A5
14dubin-johnson syndrome30.3ABCC2, ABCC1
15viral hepatitis30.2GGT1, GPT, SLC17A5, F2
16cystic fibrosis30.1ABCC2, ABCB11, ABCC1
17low gamma-gt familial intrahepatic cholestasis30.1ABCB11, ATP8B1
18primary biliary cirrhosis30.0GPT, ABCC2, ABCB11, NR1H4, ABCB4, F2
19choledocholithiasis30.0GPT, SLC17A5, GGT1
20fatty liver disease30.0GGT1
21hepatitis e30.0GPT
22primary sclerosing cholangitis29.9ABCB4, NR1I2, GPT, ABCC2, GGT1
23alcoholic hepatitis29.9SLC17A5, GPT, F2, GGT1
24autoimmune hepatitis29.9GPT, GGT1, SLC17A5, F2
25adenocarcinoma29.9GGT1, ABCC1, ABCC2, ABCB11
26obstructive jaundice29.9SLC25A13, GGT1
27thrombocytopenia29.9F2, GPT, SLC17A5
28hypercholesterolemia29.7SLC17A5, GGT1, NR1H4, SLC10A2, GPT
29portal hypertension29.7GGT1, SLC17A5, F2, GPT
30neonatal hemochromatosis29.7SLC17A5, GGT1, SLC25A13
31acute liver failure29.7GPT, SLC17A5, F2
32cerebrotendinous xanthomatosis29.7NR1I2, NR1H4
33acute pancreatitis29.7SLC17A5, GPT
34wilson disease29.7SLC17A5, GPT
35opisthorchiasis29.6GGT1
36intrahepatic cholestasis of pregnancy10.5
37n syndrome10.4
38aagenaes syndrome10.4
39benign recurrent intrahepatic cholestasis 110.4
40neonatal intrahepatic cholestasis caused by citrin deficiency10.4
41cystadenoma10.3
42gastrinoma10.3
43bile duct cystadenoma10.3
44amyloidosis10.3
45benign recurrent intrahepatic cholestasis 210.3
46arc syndrome10.3
47cholestasis, intrahepatic, of pregnancy, 110.3
48hepatitis c virus10.2
49gastrointestinal lymphoma10.2
50duodenal gastrinoma10.2

Graphical network of the top 20 diseases related to Cholestasis:



Diseases related to cholestasis

Clinical Features for Cholestasis

Drugs & Therapeutics for Cholestasis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cholestasis

Drug clinical trials:

Search ClinicalTrials for Cholestasis

Search NIH Clinical Center for Cholestasis

Search CenterWatch for Cholestasis

Genetic Tests for Cholestasis

Anatomical Context for Cholestasis

Animal Models for Cholestasis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cholestasis

Sources:
51PubMed
See all sources

Articles related to Cholestasis:

(show top 50)    (show all 1309)
idTitleAuthorsYear
1
Ursodeoxycholic acid in the treatment of intrahepatic cholestasis of pregnancy: a randomized controlled trial. (23978872)
2013
2
Primary bile acids as potential biomarkers for the clinical grading of intrahepatic cholestasis of pregnancy. (23562588)
2013
3
Cholestasis in a three year-old child following abdominal blunt trauma: a case report. (24350173)
2013
4
G protein-coupled receptor30-adenylyl cyclase-protein kinase A pathway is involved in estradiol 17A9-d-glucuronide-induced cholestasis. (24115158)
2013
5
Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: good, but can do better. (23474193)
2013
6
The effect of two different parenteral nutrition regimens on parenteral nutrition-associated cholestasis. (23205873)
2013
7
Sudden fetal death in a patient with intrahepatic cholestasis of pregnancy complicated with gestational diabetes mellitus. (22886327)
2013
8
Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment. (23160874)
2013
9
Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2. (22609309)
2012
10
Blood cytokine, chemokine and gene expression in cholestasis patients with intractable pruritis treated with a molecular adsorbent recirculating system: a case series. (23166903)
2012
11
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. (22229830)
2012
12
Ursodeoxycholic acid in cholestasis: linking action mechanisms to therapeutic applications. (21854363)
2011
13
Itraconazole-induced cholestasis: involvement of the inhibition of bile canalicular phospholipid translocator MDR3/ABCB4. (21056966)
2011
14
Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy. (21238606)
2011
15
Fibrinogen deficiency increases liver injury and early growth response-1 (Egr-1) expression in a model of chronic xenobiotic-induced cholestasis. (21356363)
2011
16
The endocannabinoid system in cholestasis. (21816694)
2011
17
Brucellosis infection presenting with cholestasis. (20579915)
2010
18
Liver-specific I^-catenin knockout mice have bile canalicular abnormalities, bile secretory defect, and intrahepatic cholestasis. (20722001)
2010
19
Progressive familial intrahepatic cholestasis type 1. (20422494)
2010
20
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. (20232290)
2010
21
Role of the bile salt export pump, BSEP, in acquired forms of cholestasis. (20028269)
2010
22
Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. (19479804)
2009
23
Lithocholic acid as a biomarker of intrahepatic cholestasis of pregnancy during ursodeoxycholic acid treatment. (19103957)
2009
24
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (18083082)
2008
25
Activity of lysosomal enzymes in the bile and serum of mice with intrahepatic cholestasis. (19145281)
2008
26
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. (18692205)
2008
27
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2. (18853996)
2008
28
Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis. (18622471)
2008
29
Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome. (17502187)
2007
30
Progressive familial intrahepatic cholestasis. (17007761)
2006
31
Nuclear receptors, bile-acid detoxification, and cholestasis. (16473109)
2006
32
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. (16737877)
2006
33
Cholestasis and cholestatic syndromes. (16550034)
2006
34
Genetics of familial intrahepatic cholestasis syndromes. (15937079)
2005
35
Manipulation of biliary lipids by gene therapy: potential consequences for patients with progressive familial intrahepatic cholestasis. (16089353)
2005
36
Intrahepatic cholestasis after liver transplantation. (14526393)
2003
37
Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect? (11420418)
2001
38
Maternal susceptibility locus for obstetric cholestasis maps to chromosome region 2p13 in Finnish patients. (11444477)
2001
39
The molecular genetics of familial intrahepatic cholestasis. (10861251)
2000
40
Progressive familial intrahepatic cholestasis. (10385071)
1999
41
Intrahepatic cholestasis: order out of chaos. (10579993)
1999
42
Prolonged intrahepatic cholestasis in acute-onset, severe autoimmune hepatitis. (9213259)
1997
43
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. (8855752)
1996
44
Anaesthetic considerations in progressive familial intrahepatic cholestasis (Byler's disease). (8595689)
1995
45
Integrity of liver inner mitochondrial membrane in rats with extrahepatic cholestasis. (1823230)
1991
46
Pharmacokinetics of ornidazole in patients with acute viral hepatitis, alcoholic cirrhosis, and extrahepatic cholestasis. (2702794)
1989
47
Portal flow and mitochondrial function during extrahepatic cholestasis. (3228650)
1988
48
Nodular regenerative hyperplasia and focal nodular hyperplasia of the liver associated with severe cholestasis. Report of a case with autopsy findings. (3713453)
1986
49
Studies in cholestasis of pregnancy. V. Gallbladder disease, liver function tests, serum lipids and fatty acid composition of serum lecithin in the non-pregnant state. (1202902)
1975
50
Letter: Antibodies to mitochondria in intrahepatic and extrahepatic cholestasis. (4834920)
1974

Genetic Variations for Cholestasis

Expression for genes affiliated with Cholestasis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN, 50PharmGKB, 12EMD Millipore
See all sources

Pathways related to Cholestasis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.9GPT, ABCB11, ABCC1, ABCB4, SLC25A13, SLC10A2
210.9ABCB4, ABCB11, ABCC2, NR1H4, NR1I3, NR1I2
310.9NR1H4, ABCC2, ABCB11, ABCB4, SLC10A2, SLC4A2
410.8NR1I2, NR1I3, NR1H4, ABCC2, ABCB11
5
Hide members
10.8ATP8B1, ABCC2, ABCC1, SLC4A2, SLC17A5
6
Hide members
10.7ABCC2, ABCB11, ABCC1, ABCB4
710.7ABCB4, ABCB11, ABCC2
8
Hide members
10.7HSD3B7, ABCB11, SLC10A2
9
Hide members
10.7ABCC1, ABCB11, ABCC2
10
Hide members
10.7NR1I2, ABCC2, ABCC1
1110.7ABCC2, NR1I3, NR1I2
12
Hide members
10.7NR1I2, NR1I3, NR1H4
1310.7SLC4A2, NR1H4, NR1I2
1410.7SLC4A2, NR1I3, NR1I2
15
Hide members
10.6ABCC1, ABCC2
1610.6ABCC1, NR1I2

Compounds for genes affiliated with Cholestasis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 181)
idCompoundScoreTop Affiliating Genes
1lipid4511.6ABCC2, ABCB4, ATP8B1, GGT1, SLC17A5, SLC10A2
2ursodeoxycholic acid45 11 2413.6F2, SLC17A5, GGT1, ABCB4, ABCB11, ABCC2
3cholesterol45 29 11 2414.5ABCB4, NR1I3, SLC10A2, SLC17A5, GGT1, NR1I2
4cyclosporin a45 29 6013.5F2, NR1I2, NR1I3, GPT, ABCC2, SLC17A5
5rifampicin45 29 6013.4GPT, GGT1, SLC17A5, ABCC1, NR1I2, NR1I3
6chenodeoxycholic acid45 29 11 2414.4ABCB11, ABCC2, SLC10A2, GPT, NR1H4, NR1I3
7phenobarbital45 29 1113.4GGT1, SLC17A5, ABCC1, NR1I2, ABCB11, ABCC2
8methotrexate45 50 1113.4NR1I2, GGT1, SLC17A5, F2, ABCB4, ABCC1
9taurocholate4511.4ATP8B1, ABCB4, ABCC1, ABCB11, ABCC2, SLC10A2
10acetaminophen45 2 50 11 2415.4GPT, GGT1, NR1I2, NR1I3, SLC17A5, F2
11verapamil45 50 29 11 2415.4GPT, ABCC2, SLC17A5, ABCB4, ABCB11, GGT1
12tacrolimus45 50 1113.3GPT, SLC17A5, GGT1, NR1I2, ABCB4, ABCB11
13glycocholate4511.3GPT, ABCC2, ABCB11, ABCB4, SLC17A5, ABCC1
14digoxin45 50 60 11 2415.3ABCC1, NR1I2, ABCC2, SLC17A5, ABCB11, F2
15cholic acid45 29 11 2414.3ABCC1, ABCB11, ABCC2, NR1H4, NR1I2, SLC10A2
16phenytoin45 50 29 1114.3SLC17A5, ABCB11, ABCC2, NR1I3, NR1I2, GGT1
17dexamethasone45 50 29 1114.2NR1I3, ABCC2, ABCB4, SLC10A2, NR1I2, GGT1
18lithocholic acid45 29 2413.2NR1I3, ABCB11, SLC10A2, NR1I2, NR1H4
19rosuvastatin45 50 29 1114.2GPT, ABCC2, ABCB11, ABCC1, SLC17A5
20lamivudine45 1112.2SLC17A5, F2, ABCC1, ABCC2, GPT
21colchicine60 45 2 29 1115.2NR1I3, NR1I2, ABCB11, ABCC1, ABCB4
22tamoxifen45 50 29 1114.2GGT1, SLC17A5, F2, NR1I2, ABCC2, ABCB11
23adefovir4511.1ABCC1, SLC17A5, GPT, ABCC2
24atorvastatin45 50 29 11 2415.1GPT, ABCC2, ABCC1, SLC10A2, SLC17A5
25rhodamine 12345 5012.1ABCB4, ABCC2, ABCB11, ABCC1
26aminopyrine4511.1F2, GPT, GGT1, SLC17A5
27cyclosporine50 1112.1ABCC2, ABCB11, ABCC1, SLC10A2
28Taurocholic Acid11 2412.1SLC10A2, ABCC2, ABCB11, ABCC1
29rifampin50 1112.1ABCC1, ABCB11, ABCC2, NR1I2
30urea45 11 2413.1GPT, SLC25A13, SLC17A5, ABCC2, GGT1
31sodium45 2412.1NR1H4, SLC10A2, SLC4A2, NR1I3
32gf 1209184511.0ABCC2, ABCB11, ABCC1
33androstane4511.0ABCC2, NR1H4, NR1I3, NR1I2
34ly3359794511.0ABCC2, ABCC1, ABCB11
35psc-8334511.0ABCC1, ABCB11, ABCC2
36bezafibrate45 29 1113.0GGT1, GPT, SLC17A5, ABCB4
37hepaplastin4511.0F2, SLC17A5, GPT
38phosphorus4511.0GPT, SLC17A5, NR1I3, GGT1
39wort4511.0ABCB11, NR1I2, ABCC2
40paclitaxel45 50 1112.9NR1I3, ABCC1, ABCC2
41estradiol-17beta-glucuronide4510.9ABCB4, ABCC1, ABCC2
42silymarin4510.9GPT, F2, SLC17A5, GGT1
43gw 406445 6011.9NR1I2, ABCC2, NR1H4
44ethinyl estradiol50 1111.8ABCC2, ABCB11, NR1I2
45ritonavir45 50 1112.8ABCB11, ABCC1, NR1I2, ABCC2
46daunorubicin45 50 1112.7ABCC2, ABCB4, ABCC1, ABCB11
47hyperforin45 29 1112.7ABCC2, NR1I2, NR1I3
48carbamazepine45 50 1112.7SLC17A5, ABCC2, NR1I2, GGT1
49arsenite45 2411.7ABCC1, ABCC2, NR1I2, GGT1, SLC4A2
50tenofovir45 50 1112.4GPT, ABCC2, SLC17A5

GO Terms for genes affiliated with Cholestasis

Sources:
16Gene Ontology
See all sources

Cellular components related to Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.9SLC17A5, ATP8B1, ABCC2, ABCB11, ABCC1, SLC10A2
2membraneGO:01602010.9ABCB11, ABCC1, SLC4A2, SLC17A5, GGT1, ABCB4
3intercellular canaliculusGO:04658110.7ABCC2, ABCB11, ABCB4
4apical plasma membraneGO:01632410.5ATP8B1, ABCC2, ABCB11, ABCB4, SLC10A2

Biological processes related to Cholestasis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:05508511.1ABCB4, ATP8B1, SLC17A5, ABCC1, ABCB11, ABCC2
2transportGO:00681011.0ABCC2, ABCB11, ABCC1, ABCB4, SLC25A13, SLC10A2
3bile acid metabolic processGO:00820611.0ATP8B1, SLC10A2, ABCB11, NR1H4, HSD3B7
4small molecule metabolic processGO:04428111.0HSD3B7, GPT, ABCB11, ABCC1, ABCB4, SLC25A13
5bile acid and bile salt transportGO:01572110.8ATP8B1, ABCB11, SLC10A2
6intracellular receptor signaling pathwayGO:03052210.7NR1H4, NR1I3, NR1I2
7leukotriene metabolic processGO:00669110.6ABCC1, GGT1
8anion transportGO:00682010.5SLC17A5, SLC4A2
9glutathione biosynthetic processGO:00675010.3GGT3P, GGT1

Molecular functions related to Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:04262610.8ABCC2, ABCB11, ABCC1, ABCB4
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00487910.7NR1H4, NR1I3, NR1I2
3gamma-glutamyltransferase activityGO:00384010.6GGT3P, GGT1
4glutathione hydrolase activityGO:03637410.5GGT1, GGT3P
5thyroid hormone receptor activityGO:00488710.3NR1I3, NR1H4

Products for genes affiliated with Cholestasis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cholestasis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet