MCID: INT001
MIFTS: 53

Intrahepatic Cholestasis malady

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

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MalaCards based summary: Intrahepatic Cholestasis, also known as cholestasis intrahepatic, is related to benign recurrent intrahepatic cholestasis and citrin deficiency. 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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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 44Novoseek, 34MeSH, 39NCIt, 57SNOMED-CT
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Intrahepatic Cholestasis, Aliases & Descriptions:

Name: Intrahepatic Cholestasis 8 10 62
 
Cholestasis Intrahepatic 44


Classifications:



External Ids:

Disease Ontology8 DOID:1852
MeSH34 D002780
SNOMED-CT57 4637005
NCIt39 C84400

Related Diseases for Intrahepatic Cholestasis

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Diseases in the Cholestasis, Progressive Familial Intrahepatic 1 family:

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

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

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1benign recurrent intrahepatic cholestasis32.2ATP8B1, ABCB11
2citrin deficiency31.7SLC25A13
3hepatitis31.1GPT, F2, SLC17A5
4low gamma-gt familial intrahepatic cholestasis31.1ATP8B1, ABCB11
5cholestasis, progressive familial intrahepatic 131.0ABCB11, ABCB4, NR1H4, ATP8B1
6cholestasis, progressive familial intrahepatic 330.9ABCB4, ABCB11, ATP8B1
7cholestasis, progressive familial intrahepatic 230.8ABCB11, ATP8B1, ABCB4
8choledocholithiasis30.6SLC17A5, GPT
9hellp syndrome30.5SLC17A5, GPT
10cholelithiasis30.4ABCB11, ABCB4, GPT
11cholestasis30.4SLC17A5, F2, SLC25A13, ABCB4, ATP8B1, GPT
12viral hepatitis30.4GPT, SLC17A5, F2
13alagille syndrome30.4ABCB4, ATP8B1
14wilson disease30.2GPT, SLC17A5
15acute liver failure30.2F2, GPT, SLC17A5
16portal hypertension30.2SLC17A5, GPT, F2
17autoimmune hepatitis30.2F2, GPT, SLC17A5
18cholangitis30.2ABCB4, GPT, SLC17A5
19biliary atresia30.1SLC25A13, NR1H4, GPT, ATP8B1
20hepatitis b30.1GPT, SLC17A5, F2
21hepatitis c30.0F2, SLC17A5, GPT
22intrahepatic cholestasis of pregnancy11.4
23neonatal intrahepatic cholestasis caused by citrin deficiency10.9
24liver disease10.6
25amyloidosis10.6
26cholestasis, intrahepatic, of pregnancy, 110.5
27benign recurrent intrahepatic cholestasis 110.5
28pancreatitis10.5
29benign recurrent intrahepatic cholestasis 210.5
30hepatitis a10.4F2
31hepatitis e10.4GPT
32eclampsia10.4
33multiple myeloma10.3
34sickle cell anemia10.3
35adenocarcinoma10.3
36hyperthyroidism10.3
37myeloma10.3
38pre-eclampsia10.3
39pheochromocytoma10.3
40sickle cell disease10.3
41al amyloidosis10.3
42atp8b1-related intrahepatic cholestasis10.3
43abcb11-related intrahepatic cholestasis10.3
44hypoxia10.3
45hepatic amyloidosis with intrahepatic cholestasis10.3
46pyridoxine deficiency10.2GPT, SLC17A5
47obstructive jaundice10.2SLC17A5, GPT
48scrub typhus10.2SLC17A5, GPT
49alcohol abuse10.2SLC17A5, GPT
50splenomegaly10.1GPT, SLC17A5

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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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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MalaCards organs/tissues related to Intrahepatic Cholestasis:

32
Liver, Placenta, Testes, Bone, Heart, Smooth muscle, Small intestine, Colon, Breast, Appendix, Neutrophil

Animal Models for Intrahepatic Cholestasis or affiliated genes

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MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

36
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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Articles related to Intrahepatic Cholestasis:

(show top 50)    (show all 669)
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
Fetal complications due to intrahepatic cholestasis of pregnancy. (25153210)
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
Heptral (ademetionine) in patients with intrahepatic cholestasis in chronic liver disease due to non-alcoholic liver disease: results of a multicentre observational study in India. (25154164)
2013
10
Study on the regulation of cell adhesion molecule expression and function in placenta from women with intrahepatic cholestasis of pregnancy. (23810461)
2013
11
Increased lectin-like oxidized LDL receptor-1 expression in the placentas of women with intrahepatic cholestasis during pregnancy. (22905453)
2012
12
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. (21603342)
2011
13
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
14
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
15
Acute intrahepatic cholestasis accompanied with Chlamydophila pneumoniae infection. (21424938)
2011
16
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. (20226067)
2010
17
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
18
Progressive familial intrahepatic cholestasis. (21134824)
2010
19
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. (19490418)
2009
20
Liver transplantation for progressive familial intrahepatic cholestasis: the evolving role of genotyping. (19479788)
2009
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
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
24
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. (17706492)
2007
25
Necrotizing hepatitis and intrahepatic cholestasis associated to Cryptococcus sp. and Pneumocystis carinii. (17151583)
2006
26
Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu]. (16909599)
2006
27
Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. (16458994)
2006
28
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
29
Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet. (16363353)
2005
30
Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. (16235123)
2005
31
Intrahepatic cholestasis of pregnancy: Relationships between bile acid levels and fetal complication rates. (15368452)
2004
32
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. (12717091)
2003
33
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
34
Intrahepatic cholestasis after liver transplantation. (14607733)
2002
35
Intrahepatic cholestasis of pregnancy: review of the literature. (11773831)
2002
36
Ursodeoxycholic acid for the treatment of intrahepatic cholestasis of pregnancy. (11392594)
2001
37
HLA-A33/B44/DR6 is highly related to intrahepatic cholestasis induced by tiopronin. (10877223)
2000
38
Oral guar gum, a gel-forming dietary fiber relieves pruritus in intrahepatic cholestasis of pregnancy. (10746839)
2000
39
Intrahepatic cholestasis of pregnancy has no effect on maternal serum second trimester alpha-fetoprotein and hCG. (10929953)
2000
40
Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients. (11151888)
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
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. (8855752)
1996
45
Intrahepatic cholestasis without hepatitis induced by amoxycillin/clavulanic acid. (8877644)
1996
46
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. (7894490)
1994
47
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
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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Expression patterns in normal tissues for genes affiliated with Intrahepatic Cholestasis

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Pathways for genes affiliated with Intrahepatic Cholestasis

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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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Compounds related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
15-hydroxytryptophol4410.0SLC17A5, GPT
2alpha-hydroxybutyrate4410.0SLC17A5, GPT
3d-galactosamine4410.0SLC17A5, GPT
4lactulose449.9SLC17A5, GPT
5adefovir449.9SLC17A5, GPT
6tenofovir44 50 1111.9SLC17A5, GPT
7glycyrrhizin44 2810.9SLC17A5, GPT
8nash449.9GPT, SLC17A5
9monoethylglycinexylidide449.9F2, GPT
10ximelagatran44 1110.9GPT, F2
11nevirapine44 50 1111.8SLC17A5, GPT
12sevoflurane50 44 1111.8GPT, SLC17A5
13antipyrine44 1110.8SLC17A5, F2
14rhodamine 12344 5010.8ABCB11, ABCB4
15lithocholic acid44 28 2411.8ABCB11, NR1H4
16isoniazid44 50 1111.7GPT, SLC17A5
17clarithromycin44 1110.7F2, GPT
18rosuvastatin44 50 28 1112.7SLC17A5, GPT, ABCB11
19rifampicin44 28 6111.7SLC17A5, GPT, ABCB11
20phenobarbital44 28 50 1112.6SLC17A5, GPT, ABCB11
21troglitazone44 28 61 1112.6SLC17A5, GPT, ABCB11
22digoxin44 61 50 24 1113.6SLC17A5, ABCB11, F2
23chloride449.5SLC17A5, GPT, ABCB11
24amiodarone44 50 28 1112.5SLC17A5, F2
25hepaplastin449.5F2, GPT, SLC17A5
26aminopyrine449.5SLC17A5, GPT, F2
27lamivudine44 50 1111.5F2, GPT, SLC17A5
28silymarin449.5F2, GPT, SLC17A5
29acetaminophen44 2 50 24 1113.5F2, GPT, SLC17A5
30pge1449.5SLC17A5, GPT, F2
31levonorgestrel44 61 28 1112.4SLC17A5, F2
32simvastatin44 50 61 28 24 1114.4SLC17A5, GPT, F2
33hyaluronic acid44 2410.4F2, GPT, SLC17A5
34bezafibrate44 28 1111.4SLC17A5, GPT, ABCB4
35epinephrine44 24 1111.3SLC17A5, ABCB11, F2
36urea44 24 1111.1GPT, SLC17A5, SLC25A13
37taurocholate449.1ABCB4, ABCB11, ATP8B1, NR1H4
38glycocholate449.1ABCB4, ABCB11, GPT, SLC17A5
39verapamil44 28 50 24 1113.1SLC17A5, GPT, ABCB11, ABCB4
40tacrolimus44 50 1111.1SLC17A5, GPT, ABCB11, ABCB4
41chenodeoxycholic acid44 28 24 1112.0NR1H4, GPT, ABCB11, ABCB4
42methotrexate50 44 1110.9F2, ABCB4, GPT, SLC17A5
43n acetylcysteine448.8SLC17A5, GPT, F2
44cyclosporin a44 28 6110.6F2, ABCB4, ABCB11, GPT, SLC17A5
45phospholipid448.5F2, ABCB4, ABCB11, NR1H4, SLC17A5
46alanine448.5F2, ABCB4, GPT, SLC17A5
47cholesterol44 28 24 1111.2SLC17A5, NR1H4, GPT, ATP8B1, ABCB11, ABCB4
48lipid448.2ABCB4, ABCB11, ATP8B1, GPT, NR1H4, SLC17A5
49aspartate448.1F2, ABCB4, GPT, SLC17A5, SLC25A13
50ursodeoxycholic acid44 24 1110.1SLC17A5, NR1H4, GPT, ABCB11, ABCB4, F2

GO Terms for genes affiliated with Intrahepatic Cholestasis

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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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Sources for Intrahepatic 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