MCID: INT001
MIFTS: 50

Intrahepatic Cholestasis malady

Summaries for Intrahepatic Cholestasis

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: 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 Pravastatin Pathway, Pharmacokinetics and Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics. The compounds glycocholate and bromosulfophthalein have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and colon, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Aliases & Classifications for Intrahepatic Cholestasis

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

Aliases & Descriptions:

intrahepatic cholestasis 8 10 61
cholestasis intrahepatic 45


External Ids:

Disease Ontology8 DOID:1852
MeSH35 D002780
SNOMED-CT57 4637005
NCIt40 C84400

Related Diseases for Intrahepatic Cholestasis

Sources:
17GeneCards, 18GeneDecks
See all sources

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
benign recurrent intrahepatic cholestasis

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

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1benign recurrent intrahepatic cholestasis31.6ATP8B1, ABCB11
2citrin deficiency31.2SLC25A13
3cholestasis, progressive familial intrahepatic 131.2GGT1, ABCB4, ABCB11, NR1H4, ATP8B1
4hepatitis c30.8GPT, ABCC2, ABCB7, F2, SLC17A5, GGT1
5cholestasis, progressive familial intrahepatic 330.7ATP8B1, ABCB11, ABCB4
6cholestasis, progressive familial intrahepatic 230.6ATP8B1, ABCB11, ABCB4
7low gamma-gt familial intrahepatic cholestasis30.6ATP8B1, ABCB11
8extrahepatic cholestasis30.6GGT1, ABCC2
9hepatitis a30.5F2
10biliary atresia30.5ATP8B1, NR1H4, GPT, SLC25A13, GGT1
11cholelithiasis30.3GPT, ABCB11, ABCB4, GGT1
12viral hepatitis30.3LCAT, GPT, ABCB7, F2, SLC17A5, GGT1
13hepatitis b30.3GPT, ABCB7, F2, SLC17A5, GGT1
14adenocarcinoma30.3GGT1, ABCB11, ABCC2, HLA-G
15choledocholithiasis30.1GPT, SLC17A5, GGT1
16acute liver failure30.1SLC17A5, F2, GPT
17alagille syndrome30.1LCAT, ATP8B1, ABCB4
18portal hypertension30.1GPT, F2, SLC17A5, GGT1
19autoimmune hepatitis30.1GPT, F2, SLC17A5, GGT1
20wilson disease30.1SLC17A5, GPT
21intrahepatic cholestasis of pregnancy10.7
22neonatal intrahepatic cholestasis caused by citrin deficiency10.7
23benign recurrent intrahepatic cholestasis 110.6
24amyloidosis10.5
25benign recurrent intrahepatic cholestasis 210.5
26cholestasis, intrahepatic, of pregnancy, 110.4
27eclampsia10.3
28n syndrome10.3
29sickle cell anemia10.2
30hepatitis d10.2
31pheochromocytoma10.2
32sickle cell disease10.2
33atp8b1-related intrahepatic cholestasis10.2
34abcb11-related intrahepatic cholestasis10.2
35cholestasis, progressive canalicular10.2
36hepatitis c virus10.2
37hepatic amyloidosis with intrahepatic cholestasis10.2
38impetigo herpetiformis10.1
39aagenaes syndrome10.1
40gilbert syndrome10.1
41pancytopenia10.1
42retinitis pigmentosa10.1
43hereditary spherocytosis10.1
44steatorrhea10.1
45gestational diabetes10.1
46hypoglycemia10.1
47sialadenitis10.1
48siderosis10.1
49drug-induced hepatitis10.1
50acute cholangitis10.1

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



Diseases related to intrahepatic cholestasis

Clinical Features for Intrahepatic Cholestasis

Drugs & Therapeutics for Intrahepatic Cholestasis

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

Approved drugs:

Search CenterWatch for Intrahepatic Cholestasis

Drug clinical trials:

Search ClinicalTrials for Intrahepatic Cholestasis

Search NIH Clinical Center for Intrahepatic Cholestasis

Search CenterWatch for Intrahepatic Cholestasis

Genetic Tests for Intrahepatic Cholestasis

Anatomical Context for Intrahepatic Cholestasis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Intrahepatic Cholestasis:

33
Heart, Smooth muscle, Colon, Liver, Breast, Placenta, T cells, Fetal liver, Appendix

Animal Models for Intrahepatic Cholestasis or affiliated genes

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

MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.0ATP8B1, NR1I2, NR1H4, ABCC2, ABCB11, ABCB7
2MP:00053769.5GGT1, LCAT, HLA-G, ATP8B1, NR1I2, NR1H4

Publications for Intrahepatic Cholestasis

Sources:
51PubMed
See all sources

Articles related to Intrahepatic Cholestasis:

(show top 50)    (show all 653)
idTitleAuthorsYear
1
Ileal exclusion in children with progressive familial intrahepatic cholestasis. (24385022)
2014
2
Hepatocellular Carcinoma in a Boy with Progressive familial Intrahepatic Cholestasis Type II: Challenging Identification: Case report. (24421753)
2013
3
Intrahepatic cholestasis of pregnancy levels of sulfated progesterone metabolites inhibit farnesoid X receptor resulting in a cholestatic phenotype. (22961653)
2013
4
Coenzyme Q in pregnant women and rats with intrahepatic cholestasis. (24118985)
2013
5
Expression of neuropeptide Y and pro-opiomelanocortin in hypothalamic arcuate nucleus in 17I+-ethinyl estradiol-induced intrahepatic cholestasis pregnant rat offspring. (24147859)
2013
6
Endoscopic nasobiliary drainage improves jaundice attack symptoms in benign recurrent intrahepatic cholestasis: A case report. (23403701)
2013
7
Intrahepatic cholestasis in common chronic liver diseases. (23927644)
2013
8
Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis. (24164717)
2013
9
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
10
A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1. (21342337)
2011
11
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. (20927635)
2011
12
Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis. (21811948)
2011
13
Expression and clinical significance of constitutive androstane receptor in placental syntrophoblast of intrahepatic cholestasis of pregnancy]. (21733368)
2011
14
The active management of intrahepatic cholestasis of pregnancy. (20124899)
2010
15
Decreased 1,25-dihydroxy vitamin D levels in women with intrahepatic cholestasis of pregnancy. (20955096)
2010
16
Liver transplantation for progressive familial intrahepatic cholestasis: the evolving role of genotyping. (19479788)
2009
17
Bile acid transport correlative protein mRNA expression profile in human placenta with intrahepatic cholestasis of pregnancy. (19882051)
2009
18
Predicting fetal asphyxia in intrahepatic cholestasis of pregnancy. (19322574)
2009
19
Intrahepatic cholestasis of pregnancy: Amelioration of pruritus by UDCA is associated with decreased progesterone disulphates in urine. (17968976)
2008
20
Dearterialization of the liver causes intrahepatic cholestasis due to reduced bile transporter expression. (18431237)
2008
21
Intrahepatic cholestasis in subclinical and overt hyperthyroidism: two case reports. (18426598)
2008
22
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. (18379143)
2008
23
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. (18664871)
2008
24
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. (17187437)
2007
25
Necrotizing hepatitis and intrahepatic cholestasis associated to Cryptococcus sp. and Pneumocystis carinii. (17151583)
2006
26
Intrahepatic cholestasis: summary of an American Association for the Study of Liver Diseases single-topic conference. (15898074)
2005
27
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. (15657619)
2005
28
Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy. (16143129)
2005
29
Predicting fetal outcome in intrahepatic cholestasis of pregnancy: is the bile acid level sufficient? (15368432)
2004
30
Severe intrahepatic cholestasis in an elderly patient with primary amyloidosis and colon adenocarcinoma. (15074894)
2004
31
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. (12624161)
2003
32
Association of single nucleotide polymorphisms of the bile salt export pump gene with intrahepatic cholestasis of pregnancy. (12825874)
2003
33
Lichenification and enlargement of hands and feet: a sign of progressive familial intrahepatic cholestasis with normal gamma-glutamyl-transpeptidase. (11321400)
2001
34
Intrahepatic cholestasis of pregnancy has no effect on maternal serum second trimester alpha-fetoprotein and hCG. (10929953)
2000
35
The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. (11067870)
2000
36
Total parenteral nutrition-associated intrahepatic cholestasis in infants: 25 years' experience. (10917294)
2000
37
Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. (10487283)
1999
38
Recurrent familial prolonged intrahepatic cholestasis of pregnancy associated with chronic liver disease. (9287990)
1997
39
Benign recurrent intrahepatic cholestasis. Some reflections on a case followed for 20 years. (8539477)
1995
40
Intrahepatic cholestasis of pregnancy. (7888831)
1994
41
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
1992
42
Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism. (2050325)
1991
43
Low activity of gamma-glutamyl transpeptidase in serum of acute intrahepatic cholestasis. (1687217)
1991
44
S-adenosyl-L-methionine in the treatment of patients with intrahepatic cholestasis of pregnancy: a randomized, double-blind, placebo-controlled study with negative results. (2050326)
1991
45
Application of keratin immunocytochemistry and sirius red staining in evaluating intrahepatic changes with acute extrahepatic cholestasis due to hepatic duct carcinoma. (2473951)
1989
46
Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. (3678736)
1987
47
A distinctive pattern of serum bile acid and bilirubin concentrations in benign recurrent intrahepatic cholestasis. (7250892)
1981
48
Changes in serum bile acid concentrations during normal pregnancy, in patients with intrahepatic cholestasis of pregnancy and in pregnant women with itching. (7470414)
1981
49
Fetal sulfated and nonsulfated bile acids in intrahepatic cholestasis of pregnancy. (681810)
1978
50
Is an acute disturbance in hepatic transport of bile-acids the primary cause of cholestasis in benign recurrent intrahepatic cholestasis? (4134960)
1974

Genetic Variations for Intrahepatic Cholestasis

Expression for genes affiliated with Intrahepatic Cholestasis

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

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

Pathways related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3ABCC2, ABCB11, SLCO1B3
2
Hide members
10.3ABCC2, ABCB11, SLCO1B3
3
Hide members
10.3SLCO1A2, SLCO1B3, ABCB11
410.3SLC4A2, NR1H4, NR1I2
510.3SLCO1A2, ABCB4, ABCB11, ABCC2
610.3NR1I2, NR1H4, ABCC2, ABCB11
7
Hide members
10.3ABCB4, ABCB7, ABCB11, ABCC2
8
Hide members
10.3NR1I2, ABCC2, SLCO1B3, CES1
910.3NR1I2, NR1H4, ABCC2, ABCB11, ABCB4
1010.2SLCO1A2, SLC4A2, SLCO1B3, ABCB4, ABCB11, ABCC2
11
Hide members
10.2ATP8B1, ABCC2, ABCB7, SLCO1B3, SLC4A2, SLCO1A2
12
Hide members
10.1GPT, ABCB11, ABCB7, ABCB4, SLCO1B3, SLC25A13

Compounds for genes affiliated with Intrahepatic Cholestasis

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

Compounds related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 154)
idCompoundScoreTop Affiliating Genes
1glycocholate4510.7GPT, ABCC2, ABCB11, ABCB4, SLC17A5
2bromosulfophthalein4510.7GPT, ABCC2, SLCO1A2, SLCO1B3
3aminopyrine4510.7SLC17A5, F2, GPT, GGT1
4lithocholic acid45 29 2412.7SLCO1A2, NR1H4, NR1I2, SLCO1B3, ABCB11
5rifampin50 1111.7SLCO1A2, NR1I2, SLCO1B3, ABCB11, ABCC2
6rosuvastatin45 50 29 1113.7ABCB11, ABCC2, GPT, SLCO1B3, SLCO1A2, SLC17A5
7taurocholate4510.6ABCB11, SLCO1A2, SLCO1B3, ABCB4, NR1H4, ATP8B1
8bezafibrate45 29 1112.6LCAT, SLC17A5, GGT1, ABCB4, GPT
9acetaminophen45 2 50 11 2414.6F2, GPT, NR1I2, SLC17A5, GGT1, ABCC2
10phenobarbital45 29 1112.6SLC17A5, ABCB11, GPT, NR1I2, GGT1, ABCC2
11digoxin45 50 60 11 2414.6NR1I2, ABCC2, ABCB11, F2, SLCO1B3, SLCO1A2
12silymarin4510.6GGT1, SLC17A5, F2, ABCB7, GPT
13nevirapine45 50 1112.6GGT1, SLC17A5, ABCB7, GPT
14verapamil45 50 29 11 2414.6SLC17A5, SLCO1A2, ABCC2, GGT1, ABCB11, GPT
15phenytoin45 50 29 1113.6NR1I2, ABCC2, ABCB11, GGT1, SLC17A5
16chenodeoxycholic acid45 29 11 2413.6ABCB4, SLCO1A2, SLCO1B3, ABCB11, NR1I2, GPT
17mycophenolate mofetil45 50 1112.6ABCC2, SLCO1B3, GPT, CES1, GGT1
18Taurocholic Acid11 2411.6ABCC2, SLCO1A2, SLCO1B3, ABCB11
19tacrolimus45 50 1112.6GPT, ABCC2, ABCB11, ABCB4, SLC17A5, NR1I2
20ezetimibe45 1111.6SLC17A5, GPT, ABCC2, CES1
21simvastatin45 50 60 29 11 2415.6CES1, LCAT, GPT, ABCC2, SLCO1A2, SLC17A5
22vitamin-e4510.6GGT1, SLC17A5, CES1, NR1I2, GPT, ABCB7
23hepaplastin4510.6SLC17A5, GPT, F2
24atorvastatin45 50 29 11 2414.6SLCO1B3, LCAT, GPT, ABCC2, CES1, SLC17A5
25rifampicin45 29 6012.6GGT1, ABCC2, SLC17A5, NR1I2, ABCB11, GPT
26lovastatin45 50 60 29 1114.6CES1, GGT1, NR1I2, GPT, ABCC2, SLCO1A2
27lamivudine45 1111.6GPT, ABCC2, SLC17A5, F2
28deoxycholic acid45 29 11 2413.6SLCO1A2, SLCO1B3, ABCB11, NR1H4
29cholic acid45 29 11 2413.5CES1, SLCO1B3, ABCB11, NR1H4, NR1I2, LCAT
30pravastatin45 50 29 11 2414.5ABCB11, LCAT, SLCO1B3, SLCO1A2, ABCB7, GPT
31urea45 11 2412.5ABCB7, HLA-G, SLC25A13, SLC17A5, GGT1, GPT
32cyclosporin a45 29 6012.5GPT, SLCO1B3, SLC17A5, ABCB11, ABCB4, F2
33dexamethasone45 50 29 1113.5GGT1, ABCC2, ABCB4, LCAT, SLCO1A2, NR1I2
34chloride4510.5SLC17A5, GPT, ABCC2, ABCB11, ABCB7, SLC4A2
35phospholipid4510.5SLC17A5, LCAT, NR1H4, CES1, F2, ABCB4
36sodium45 2411.5HLA-G, SLC4A2, ABCB7, NR1H4
37tamoxifen45 50 29 1113.5NR1I2, ABCC2, ABCB11, F2, SLC17A5, GGT1
38methotrexate45 50 1112.5HLA-G, NR1I2, GPT, ABCC2, ABCB4, F2
39wort4510.5ABCB11, NR1I2, ABCC2
40ursodeoxycholic acid45 11 2412.4GGT1, SLC17A5, SLCO1A2, SLCO1B3, F2, ABCB4
41testosterone45 60 11 2413.4GGT1, LCAT, NR1I2, NR1H4, ABCB7, CES1
42phosphorus4510.4GGT1, GPT, ABCB7, SLC17A5
431,3,7,12-Tetrahydroxycholan-24-oic acid2410.3SLCO1B3, SLCO1A2, ABCB11
44cholesterol45 29 11 2413.3SLCO1A2, SLC17A5, GGT1, CES1, LCAT, ABCB11
45gw 406445 6011.3NR1I2, NR1H4, ABCC2
46creatinine4510.3ABCC2, GPT, HLA-G, ABCB7, GGT1, SLC17A5
47lipid4510.3NR1H4, SLC17A5, GGT1, CES1, LCAT, ABCB7
48aspartate4510.3ABCB7, F2, GPT, ABCB4, SLC25A13, SLC17A5
491,3,12-Trihydroxycholan-24-oic acid2410.2ABCB11, SLCO1B3, SLCO1A2
50(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid2410.0ABCB11, SLCO1B3, SLCO1A2

GO Terms for genes affiliated with Intrahepatic Cholestasis

Sources:
16Gene Ontology
See all sources

Cellular components related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:04658110.4ABCC2, ABCB11, ABCB4
2integral to plasma membraneGO:00588710.1SLC25A13, SLCO1B3, ABCB4, ABCB11, ABCC2, ATP8B1
3apical plasma membraneGO:01632410.0ABCB4, ATP8B1, ABCC2, ABCB11
4plasma membraneGO:00588610.0SLCO1A2, SLC4A2, HLA-G, SLCO1B3, F2, ABCB4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:01572110.5ATP8B1, ABCB11, SLCO1B3, SLCO1A2
2bile acid metabolic processGO:00820610.4ATP8B1, NR1H4, ABCB11, SLCO1B3, SLCO1A2
3organic anion transportGO:01571110.4SLCO1A2, SLCO1B3
4glutathione biosynthetic processGO:00675010.4GGT1, GGT3P
5transportGO:00681010.3ABCC2, ABCB11, ABCB7, ABCB4, SLC25A13
6transmembrane transportGO:05508510.3SLC17A5, ATP8B1, ABCC2, ABCB11, ABCB7, ABCB4
7anion transportGO:00682010.3SLC4A2, SLC17A5
8small molecule metabolic processGO:04428110.2LCAT, GPT, ABCB11, ABCB7, ABCB4, SLCO1B3
9sodium-independent organic anion transportGO:04325210.1SLCO1A2, SLCO1B3

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

idNameGO IDScoreTop Affiliating Genes
1gamma-glutamyltransferase activityGO:00384010.4GGT1, GGT3P
2ATPase activity, coupled to transmembrane movement of substancesGO:04262610.3ABCB4, ABCB7, ABCB11, ABCC2
3organic anion transmembrane transporter activityGO:00851410.2ABCC2, SLCO1B3, SLCO1A2
4glutathione hydrolase activityGO:03637410.1GGT1, GGT3P

Products for genes affiliated with Intrahepatic Cholestasis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Intrahepatic 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