MCID: INT001
MIFTS: 52

Intrahepatic Cholestasis malady

Genetic diseases, Gastrointestinal diseases, Rare diseases, Liver diseases categories
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Summaries for Intrahepatic Cholestasis

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33MalaCards
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MalaCards: Intrahepatic Cholestasis, also known as cholestasis intrahepatic, is related to cholestasis and benign recurrent intrahepatic cholestasis. An important gene associated with Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Drug Induction of Bile Acid Pathway and Bile secretion. The compounds 5-hydroxytryptophol and alpha-hydroxybutyrate have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and testes, and related mouse phenotypes are liver/biliary system and growth/size/body.

Aliases & Classifications for Intrahepatic Cholestasis

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 40NCIt, 58SNOMED-CT
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Classifications:



Aliases & Descriptions:

intrahepatic cholestasis 8 10 62
cholestasis intrahepatic 45


External Ids:

Disease Ontology8 DOID:1852
MeSH35 D002780
SNOMED-CT58 4637005
NCIt40 C84400

Related Diseases for Intrahepatic Cholestasis

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17GeneCards, 18GeneDecks
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Diseases in the Benign Recurrent Intrahepatic Cholestasis family:

intrahepatic cholestasis Benign Recurrent Intrahepatic Cholestasis 1
Benign Recurrent Intrahepatic Cholestasis 2 Cholestasis, Progressive Familial Intrahepatic 1
Cholestasis, Progressive Familial Intrahepatic 2 Cholestasis, Progressive Familial Intrahepatic 3
Cholestasis, Progressive Familial Intrahepatic 4 Atp8b1-Related Intrahepatic Cholestasis
Abcb11-Related Intrahepatic Cholestasis

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis31.8SLC25A13, SLC17A5, NR1H4, CIRH1A, GPT, ATP8B1
2benign recurrent intrahepatic cholestasis31.8ATP8B1, ABCB11
3citrin deficiency31.3SLC25A13
4hepatitis31.1F2, GPT, SLC17A5
5cholestasis, progressive familial intrahepatic 131.1NR1H4, ATP8B1, ABCB11, ABCB4
6cholestasis, progressive familial intrahepatic 330.8ATP8B1, ABCB11, ABCB4
7low gamma-gt familial intrahepatic cholestasis30.7ATP8B1, ABCB11
8cholestasis, progressive familial intrahepatic 230.6ATP8B1, ABCB11, ABCB4
9biliary atresia30.4ATP8B1, GPT, NR1H4, SLC25A13
10cholelithiasis30.4GPT, ABCB11, ABCB4
11viral hepatitis30.4SLC17A5, GPT, F2
12choledocholithiasis30.3GPT, SLC17A5
13alagille syndrome30.2ATP8B1, ABCB4
14acute liver failure30.2F2, GPT, SLC17A5
15wilson disease30.2GPT, SLC17A5
16portal hypertension30.2F2, GPT, SLC17A5
17autoimmune hepatitis30.2SLC17A5, GPT, F2
18cholangitis30.2ABCB4, GPT, SLC17A5
19hepatitis c30.1SLC17A5, GPT, F2
20hepatocellular carcinoma29.9F2, ABCB4, GPT, SLC17A5, SLC25A13
21intrahepatic cholestasis of pregnancy11.3
22neonatal intrahepatic cholestasis caused by citrin deficiency10.9
23amyloidosis10.6
24liver disease10.6
25benign recurrent intrahepatic cholestasis 110.5
26pancreatitis10.5
27benign recurrent intrahepatic cholestasis 210.5
28cholestasis, intrahepatic, of pregnancy, 110.5
29eclampsia10.3
30sickle cell anemia10.3
31adenocarcinoma10.3
32hyperthyroidism10.3
33multiple myeloma10.3
34myeloma10.3
35pre-eclampsia10.3
36pheochromocytoma10.3
37sickle cell disease10.3
38al amyloidosis10.3
39cholestasis, progressive familial intrahepatic 410.3
40atp8b1-related intrahepatic cholestasis10.3
41abcb11-related intrahepatic cholestasis10.3
42hepatic amyloidosis with intrahepatic cholestasis10.3
43gilbert syndrome10.1
44pure red-cell aplasia10.1
45aagenaes syndrome10.1
46hereditary spherocytosis10.1
47retinitis pigmentosa10.1
48steatorrhea10.1
49gestational diabetes10.1
50hypoglycemia10.1

Graphical network of the top 20 diseases related to Intrahepatic Cholestasis:



Diseases related to intrahepatic cholestasis

Symptoms for Intrahepatic Cholestasis

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Drugs & Therapeutics for Intrahepatic Cholestasis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Intrahepatic Cholestasis

Search NIH Clinical Center for Intrahepatic Cholestasis

Genetic Tests for Intrahepatic Cholestasis

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Anatomical Context for Intrahepatic Cholestasis

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33MalaCards
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MalaCards organs/tissues related to Intrahepatic Cholestasis:

33
Liver, Placenta, Testes, Bone, Heart, Smooth muscle, Colon, Breast, Appendix

Animal Models for Intrahepatic Cholestasis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.5ABCB4, ABCB11, ATP8B1, NR1H4, SLC25A13
2MP:00053787.5SLC25A13, SLC17A5, NR1H4, ATP8B1, ABCB11, F2
3MP:00053766.8SLC25A13, SLC17A5, NR1H4, ATP8B1, ABCB11, ABCB4

Publications for Intrahepatic Cholestasis

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52PubMed
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Articles related to Intrahepatic Cholestasis:

(show top 50)    (show all 634)
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
Study on the regulation of cell adhesion molecule expression and function in placenta from women with intrahepatic cholestasis of pregnancy. (23810461)
2013
5
Menopause after a history of intrahepatic cholestasis of pregnancy. (24149924)
2013
6
Increased lectin-like oxidized LDL receptor-1 expression in the placentas of women with intrahepatic cholestasis during pregnancy. (22905453)
2012
7
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. (21603342)
2011
8
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
9
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
10
Acute intrahepatic cholestasis accompanied with Chlamydophila pneumoniae infection. (21424938)
2011
11
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. (20226067)
2010
12
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
13
Progressive familial intrahepatic cholestasis. (21134824)
2010
14
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. (19490418)
2009
15
Liver transplantation for progressive familial intrahepatic cholestasis: the evolving role of genotyping. (19479788)
2009
16
Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. (18987030)
2009
17
SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids]. (18578996)
2008
18
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (18083082)
2008
19
Association of gene polymorphisms of CYP1B1 with intrahepatic cholestasis of pregnancy]. (18575334)
2008
20
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
21
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. (17706492)
2007
22
Clinical and experimental study on wuling pill in treating gestation period intrahepatic cholestasis]. (16548349)
2006
23
Necrotizing hepatitis and intrahepatic cholestasis associated to Cryptococcus sp. and Pneumocystis carinii. (17151583)
2006
24
Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu]. (16909599)
2006
25
Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. (16458994)
2006
26
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
27
Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet. (16363353)
2005
28
Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. (16235123)
2005
29
Intrahepatic cholestasis of pregnancy: Relationships between bile acid levels and fetal complication rates. (15368452)
2004
30
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. (12717091)
2003
31
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
32
Intrahepatic cholestasis after liver transplantation. (14607733)
2002
33
Intrahepatic cholestasis of pregnancy: review of the literature. (11773831)
2002
34
Ursodeoxycholic acid for the treatment of intrahepatic cholestasis of pregnancy. (11392594)
2001
35
HLA-A33/B44/DR6 is highly related to intrahepatic cholestasis induced by tiopronin. (10877223)
2000
36
Oral guar gum, a gel-forming dietary fiber relieves pruritus in intrahepatic cholestasis of pregnancy. (10746839)
2000
37
Intrahepatic cholestasis of pregnancy has no effect on maternal serum second trimester alpha-fetoprotein and hCG. (10929953)
2000
38
Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients. (11151888)
2000
39
Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. (10487283)
1999
40
The ultrasonographic 'triangular cord' coupled with gallbladder images in the diagnostic prediction of biliary atresia from infantile intrahepatic cholestasis. (10591576)
1999
41
Intrahepatic cholestasis related to vanishing bile duct syndrome in Hodgkin's disease. (9144127)
1997
42
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. (8855752)
1996
43
Intrahepatic cholestasis without hepatitis induced by amoxycillin/clavulanic acid. (8877644)
1996
44
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. (7894490)
1994
45
Low Gamma-GT Familial Intrahepatic Cholestasis (20301474)
1993
46
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
1992
47
Epomediol ameliorates pruritus in patients with intrahepatic cholestasis of pregnancy. (1484159)
1992
48
Intrahepatic cholestasis of pregnancy and acute fatty liver of pregnancy. An unusual but favorable association? (2001812)
1991
49
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. (6852450)
1983
50
Bile acid metabolism in benign recurrent intrahepatic cholestasis. Comparative studies on the icteric and anicteric phases of a single case. (437403)
1979

Variations for Intrahepatic Cholestasis

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Expression for genes affiliated with Intrahepatic Cholestasis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Intrahepatic Cholestasis

Search GEO for disease gene expression data for Intrahepatic Cholestasis.

Pathways for genes affiliated with Intrahepatic Cholestasis

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50PathCards, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6NR1H4, ABCB11
29.0NR1H4, ABCB11, ABCB4
39.0NR1H4, ABCB11, ABCB4

Compounds for genes affiliated with Intrahepatic Cholestasis

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
15-hydroxytryptophol4510.0SLC17A5, GPT
2alpha-hydroxybutyrate4510.0SLC17A5, GPT
3d-galactosamine4510.0SLC17A5, GPT
4lactulose459.9SLC17A5, GPT
5adefovir459.9SLC17A5, GPT
6tenofovir45 51 1111.9SLC17A5, GPT
7glycyrrhizin45 2910.9SLC17A5, GPT
8nash459.9GPT, SLC17A5
9monoethylglycinexylidide459.9F2, GPT
10ximelagatran45 1110.9GPT, F2
11nevirapine45 51 1111.8SLC17A5, GPT
12sevoflurane51 45 1111.8GPT, SLC17A5
13antipyrine45 1110.8SLC17A5, F2
14rhodamine 12345 5110.8ABCB11, ABCB4
15lithocholic acid45 29 2411.8ABCB11, NR1H4
16isoniazid45 51 1111.7GPT, SLC17A5
17clarithromycin45 1110.7F2, GPT
18rosuvastatin45 51 29 1112.7SLC17A5, GPT, ABCB11
19rifampicin45 29 6111.7SLC17A5, GPT, ABCB11
20phenobarbital45 29 51 1112.6SLC17A5, GPT, ABCB11
21troglitazone45 29 61 1112.6SLC17A5, GPT, ABCB11
22digoxin45 61 51 24 1113.6SLC17A5, ABCB11, F2
23chloride459.5SLC17A5, GPT, ABCB11
24amiodarone45 51 29 1112.5SLC17A5, F2
25hepaplastin459.5F2, GPT, SLC17A5
26aminopyrine459.5SLC17A5, GPT, F2
27lamivudine45 51 1111.5F2, GPT, SLC17A5
28silymarin459.5F2, GPT, SLC17A5
29acetaminophen45 3 51 24 1113.5F2, GPT, SLC17A5
30pge1459.5SLC17A5, GPT, F2
31levonorgestrel45 61 29 1112.4SLC17A5, F2
32simvastatin45 51 61 29 24 1114.4SLC17A5, GPT, F2
33hyaluronic acid45 2410.4F2, GPT, SLC17A5
34bezafibrate45 29 1111.4SLC17A5, GPT, ABCB4
35epinephrine45 24 1111.3SLC17A5, ABCB11, F2
36urea45 24 1111.1GPT, SLC17A5, SLC25A13
37taurocholate459.1ABCB4, ABCB11, ATP8B1, NR1H4
38glycocholate459.1ABCB4, ABCB11, GPT, SLC17A5
39verapamil45 29 51 24 1113.1SLC17A5, GPT, ABCB11, ABCB4
40tacrolimus45 51 1111.1SLC17A5, GPT, ABCB11, ABCB4
41chenodeoxycholic acid45 29 24 1112.0NR1H4, GPT, ABCB11, ABCB4
42methotrexate51 45 1110.9F2, ABCB4, GPT, SLC17A5
43n acetylcysteine458.8SLC17A5, GPT, F2
44cyclosporin a45 29 6110.6F2, ABCB4, ABCB11, GPT, SLC17A5
45phospholipid458.5F2, ABCB4, ABCB11, NR1H4, SLC17A5
46alanine458.5F2, ABCB4, GPT, SLC17A5
47cholesterol45 29 24 1111.2SLC17A5, NR1H4, GPT, ATP8B1, ABCB11, ABCB4
48lipid458.2ABCB4, ABCB11, ATP8B1, GPT, NR1H4, SLC17A5
49aspartate458.1F2, ABCB4, GPT, SLC17A5, SLC25A13
50ursodeoxycholic acid45 24 1110.1SLC17A5, NR1H4, GPT, ABCB11, ABCB4, F2

GO Terms for genes affiliated with Intrahepatic Cholestasis

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

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:0465819.2ABCB4, ABCB11
2apical plasma membraneGO:0163249.2ATP8B1, ABCB11, ABCB4
3integral component of plasma membraneGO:0058877.9SLC25A13, SLC17A5, ATP8B1, ABCB11, ABCB4

Biological processes related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:0157219.5ATP8B1, ABCB11
2bile acid metabolic processGO:0082069.3NR1H4, ATP8B1, ABCB11
3transportGO:0068108.7SLC25A13, ABCB11, ABCB4
4transmembrane transportGO:0550858.7ABCB4, ABCB11, ATP8B1, SLC17A5

Molecular functions related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:0426269.5ABCB11, ABCB4

Products for genes affiliated with Intrahepatic Cholestasis

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  • Antibodies
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Sources for Intrahepatic 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