ICP
MCID: INT001
MIFTS: 59

Intrahepatic Cholestasis (ICP) malady

Categories: Rare diseases, Liver diseases, Reproductive diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Intrahepatic Cholestasis

Aliases & Descriptions for Intrahepatic Cholestasis:

Name: Intrahepatic Cholestasis 12 29 14 69
Intrahepatic Cholestasis of Pregnancy 12 50 25 56
Recurrent Intrahepatic Cholestasis of Pregnancy 50 25 56
Pregnancy-Related Cholestasis 50 25 56
Gravidic Intrahepatic Cholestasis 50 56
Familial Recurrent Intrahepatic Cholestasis of Pregnancy 50
Familial Intrahepatic Cholestasis of Pregnancy 50
Cholestasis, Intrahepatic of Pregnancy 50
Pregnancy Related Cholestasis 50
Cholestasis, Intrahepatic 42
Cholestasis Intrahepatic 52
Cholestasis of Pregnancy 69
Obstetric Cholestasis 25
Ricp 50
Icp 50

Characteristics:

Orphanet epidemiological data:

56
intrahepatic cholestasis of pregnancy
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:1852
MeSH 42 D002780
NCIt 47 C84400
SNOMED-CT 64 4637005
Orphanet 56 ORPHA69665
MESH via Orphanet 43 C535932
ICD10 via Orphanet 34 O26.6
UMLS 69 C0008372

Summaries for Intrahepatic Cholestasis

NIH Rare Diseases : 50 intrahepatic cholestasis of pregnancy (icp) is a disorder of the liver that occurs in women during pregnancy. cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. the bile then builds up in the liver, impairing liver function. symptoms typically become apparent in the third trimester of pregnancy and can include severe itching (pruritus). occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice). icp is additionally associated with risks to the developing baby such as premature delivery and stillbirth. the cause of icp is largely unknown, although approximately 15% of cases are caused by mutations in either the abcb11 or abcb4 genes. mutations within the abcb11 and abcb4 genes are inherited in an autosomal dominant manner. symptoms of icp are typically limited to pregnancy. bile flow returns to normal after delivery and the signs and symptoms of the condition disappear, however, they can return during later pregnancies. last updated: 3/15/2016

MalaCards based summary : Intrahepatic Cholestasis, also known as intrahepatic cholestasis of pregnancy, is related to cholestasis, benign recurrent intrahepatic, 2 and cholestasis, intrahepatic, of pregnancy, 1, and has symptoms including icterus, hepatocellular jaundice and pruritus of pregnancy. An important gene associated with Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Synthesis of bile acids and bile salts. The drugs Ursodeoxycholic acid and Abatacept have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism

Genetics Home Reference : 25 Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies.

Related Diseases for Intrahepatic Cholestasis

Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic 2 Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
Cholestasis, Progressive Familial Intrahepatic 1 Cholestasis, Benign Recurrent Intrahepatic
Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

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

(show top 50) (show all 115)
id Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 33.0 ABCB11 ABCB4 ATP8B1 NR1H4
2 cholestasis, intrahepatic, of pregnancy, 1 32.4 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 NR1H4
3 gallbladder disease 1 31.7 ABCB11 ABCB4 ATP8B1 JAG1
4 eclampsia 29.0 ABCB11 ABCB4 ABCC2 ATP8B1 GGT1 JAG1
5 cholestasis, benign recurrent intrahepatic 12.3
6 low gamma-gt familial intrahepatic cholestasis 12.1
7 cholestasis, progressive familial intrahepatic 1 12.0
8 atp8b1-related intrahepatic cholestasis 11.9
9 myo5b-related progressive familial intrahepatic cholestasis 11.9
10 abcb11-related intrahepatic cholestasis 11.9
11 citrullinemia, type ii, neonatal-onset 11.9
12 cholestasis, progressive familial intrahepatic 3 11.8
13 cholestasis, progressive familial intrahepatic 2 11.7
14 bile acid synthesis defect, congenital, 1 11.7
15 bile acid synthesis defect, congenital, 4 11.7
16 cholestasis 11.2
17 cholestasis, progressive familial intrahepatic 4 11.1
18 cholestasis-lymphedema syndrome 11.0
19 crigler-najjar syndrome, type ii 11.0
20 cirrhosis, north american indian childhood type 11.0
21 cholestasis, intrahepatic, of pregnancy, 3 11.0
22 gilbert syndrome 11.0
23 citrullinemia, adult-onset type ii 11.0
24 bile acid synthesis defect, congenital, 2 11.0
25 bile acid synthesis defect, congenital, 3 11.0
26 cholestasis, progressive familial intrahepatic 5 10.9
27 atp8b1 deficiency 10.9
28 hepatitis 10.4
29 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 10.3 ABCB11 ABCB4 ATP8B1
30 autosomal dominant tubulointerstitial kidney disease, muc1-related 10.3 ABCB11 ATP8B1 NR1H4
31 ebstein anomaly 10.3 GGT1 SLC17A5 SLC25A13
32 amyotrophic lateral sclerosis 3 10.3 ABCB11 ABCB4 ATP8B1 NR1H4
33 campylobacteriosis 10.2 ABCC2 GGT1 SLCO1A2
34 kohler's disease 10.2 ABCB4 ALB SLC17A5
35 atrial fibrillation, familial, 12 10.2 ABCC2 SLCO1B1
36 borderline leprosy 10.2 ABCB4 ALB NR1H4
37 liver disease 10.2
38 amyloidosis 10.2
39 congenital hypoplastic anemia 10.2 ALB SLC17A5 SLC25A13
40 paranasal sinus sarcoma 10.2 ALB GGT1 SLC17A5 SLC25A13
41 acute cholangitis 10.2 ABCB11 ABCB4 ALB NR1I2
42 pseudoarthrosis 10.2 ABCB4 ALB GGT1 NR1H4
43 microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 10.1 ABCB4 GGT1 NR1I2
44 dyserythropoietic anemia, congenital, type ii 10.1 ABCB4 ATP8B1 JAG1
45 ringed hair 10.1 GGT1 JAG1
46 bacterial meningitis 10.1 ABCB11 ABCB4 ALB GGT1 NR1I2
47 childhood malignant hemangiopericytoma 10.1 ABCB11 ALB GGT1 NR1I2
48 pancreatitis 10.1
49 pyelitis 10.1 ABCC2 ALB NR1I3 SLCO1B1
50 patent foramen ovale 10.0 ALB JAG1 NR1H4 SLC10A2

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



Diseases related to Intrahepatic Cholestasis

Symptoms & Phenotypes for Intrahepatic Cholestasis

UMLS symptoms related to Intrahepatic Cholestasis:


icterus, hepatocellular jaundice, pruritus of pregnancy

GenomeRNAi Phenotypes related to Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.72 NR1H4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.72 HLA-G
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 NR1H4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.72 HLA-G NR1H4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 GGT3P
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.72 HLA-G
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.72 GGT1 GGT3P
8 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.72 GGT3P GGT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.72 HLA-G
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 NR1H4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 NR1H4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 GGT1 GGT3P
13 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.72 HLA-G
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.72 HLA-G
15 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.72 HLA-G
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.72 GGT1 GGT3P HLA-G NR1H4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 HLA-G
18 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.72 NR1H4

MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCB11 ABCB4 ABCC2 ALB ATP8B1 ENPP2
2 growth/size/body region MP:0005378 10 ATP8B1 ENPP2 GGT1 JAG1 NR1H4 NR1I3
3 liver/biliary system MP:0005370 9.7 ABCB4 ABCC2 ALB ATP8B1 JAG1 NR1H4
4 mortality/aging MP:0010768 9.4 ABCB11 ALB ATP8B1 ENPP2 GGT1 JAG1

Drugs & Therapeutics for Intrahepatic Cholestasis

Drugs for Intrahepatic Cholestasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 156)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128-13-2 31401
2
Abatacept Approved Phase 4 332348-12-6 10237
3
Sorbitol Approved Phase 4 50-70-4 5780
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
5 Cholagogues and Choleretics Phase 4,Phase 3,Phase 2,Phase 1
6 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
8 Pharmaceutical Solutions Phase 4,Phase 2
9 Immunosuppressive Agents Phase 4,Phase 3
10 Laxatives Phase 4,Phase 3,Phase 2
11 Antirheumatic Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Cathartics Phase 4,Phase 3,Phase 2
13 Tocopherols Phase 4
14 Tocotrienols Phase 4
15 Parenteral Nutrition Solutions Phase 4
16 Fat Emulsions, Intravenous Phase 4
17 methionine Nutraceutical Phase 4,Phase 2
18 Tocopherol Nutraceutical Phase 4
19 Tocotrienol Nutraceutical Phase 4
20 Soy Bean Nutraceutical Phase 4
21 Coconut Nutraceutical Phase 4
22 Olive Nutraceutical Phase 4
23
Ethanol Approved Phase 3 64-17-5 702
24
Fenofibrate Approved Phase 3,Phase 2,Phase 1 49562-28-9 3339
25
Bezafibrate Approved Phase 3 41859-67-0 39042
26
Colchicine Approved Phase 3 64-86-8 6167 2833
27
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
28
chenodeoxycholic acid Approved Phase 3,Phase 2 474-25-9 10133
29
Zidovudine Approved Phase 2, Phase 3 30516-87-1 35370
30
Lamivudine Approved, Investigational Phase 2, Phase 3 134678-17-4 60825
31
Copper Approved Phase 3 15158-11-9, 7440-50-8 27099
32
Budesonide Approved Phase 3,Phase 1 51333-22-3 63006 5281004
33
Tauroursodeoxycholic acid Approved, Investigational Phase 3 14605-22-2 12443252
34
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
35
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
36
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
38
Tetrathiomolybdate Investigational Phase 3 16330-92-0
39
Molybdenum Phase 3 7439-98-7 185498
40 Atorvastatin Calcium Phase 3 134523-03-8
41 glucocorticoids Phase 3,Phase 1
42 Chelating Agents Phase 3
43 Folic Acid Antagonists Phase 3
44 Taurochenodeoxycholic Acid Phase 3
45 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
46 Dermatologic Agents Phase 3,Phase 2
47 Trace Elements Phase 3
48 Hormone Antagonists Phase 3,Phase 1
49 Hormones Phase 3,Phase 1,Early Phase 1
50 Peripheral Nervous System Agents Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 107)
id Name Status NCT ID Phase
1 Effectiveness of S-adenosyl-L-methionine in Patients With Primary Biliary Cirrhosis Completed NCT02557360 Phase 4
2 Ursofalk Tablets (500 mg) Versus Ursofalk Capsules (250 mg) in the Treatment of Primary Biliary Cirrhosis Completed NCT01510860 Phase 4
3 Study of Abatacept (Orencia) to Treat Primary Biliary Cirrhosis Active, not recruiting NCT02078882 Phase 4
4 Reduction of Neonatal Parenteral Nutrition Associated Cholestasis Through Lipid Emulsions Terminated NCT02633384 Phase 4
5 Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy Completed NCT01576458 Phase 3
6 Study With Heptral in Subjects With Liver Disease Due to Alcohol Consumption Completed NCT02200029 Phase 3
7 Phase 3 Study of Bezafibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis Completed NCT01654731 Phase 3
8 Safety and Efficacy of Tauroursodeoxycholic Acid Versus Ursofalk in the Treatment of Adult Primary Biliary Cirrhosis Completed NCT01857284 Phase 3
9 Study Comparing Tetrathiomolybdate vs Standard Treatment in Primary Biliary Cirrhosis Completed NCT00805805 Phase 3
10 Study of Combivir for Patients With Primary Biliary Cirrhosis Completed NCT00490620 Phase 2, Phase 3
11 Ursodiol-Methotrexate for Primary Biliary Cirrhosis Completed NCT00006168 Phase 3
12 Phase III Randomized Study of Ursodiol With Vs Without Methotrexate for Primary Biliary Cirrhosis Completed NCT00004784 Phase 3
13 Low-Dose Oral Methotrexate Versus Colchicine for Primary Biliary Cirrhosis Completed NCT00004748 Phase 3
14 Safety and Efficacy of Long-Term Treatment With Atorvastatin in Patients With Primary Biliary Cirrhosis Completed NCT00844402 Phase 3
15 Fuzhenghuayu for Patients With PBC Who Had An Inadequate Response to Ursodeoxycholic Acid Recruiting NCT02916641 Phase 3
16 Fenofibrate for Patients With Primary Biliary Cirrhosis Who Had An Inadequate Response to Ursodeoxycholic Acid Recruiting NCT02823366 Phase 3
17 Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis Recruiting NCT02823353 Phase 3
18 Use of Bezafibrate in Patients With Primary Biliary Cirrhosis to Archive Complete Biochemical Response in Non-responders Recruiting NCT02937012 Phase 3
19 Fuzhenghuayu in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis Recruiting NCT02916290 Phase 3
20 Phase 3 Study of Obeticholic Acid Evaluating Clinical Outcomes in Patients With Primary Biliary Cirrhosis Recruiting NCT02308111 Phase 3
21 Phase 3 Study of Obeticholic Acid in Patients With Primary Biliary Cirrhosis Active, not recruiting NCT01473524 Phase 3
22 Metformin in Intrahepatic Cholestasis of Pregnancy Not yet recruiting NCT03056274 Phase 2, Phase 3
23 Ursodeoxycholic Acid Plus Budesonide Versus Ursodeoxycholic Acid Alone in Primary Biliary Cirrhosis (PBC) Terminated NCT00746486 Phase 3
24 Magnetic Resonance Cholangiopancreatography Versus Endoscopic Retrograde Cholangiopancreatography in the Approach to Patients With Suspected Biliary Obstruction Terminated NCT01424657 Phase 3
25 Ursodeoxycholic Acid And Cholestasis Of Pregnancy Withdrawn NCT01226823 Phase 3
26 Umbilical Cord Mesenchymal Stem Cells for Patients With Primary Biliary Cirrhosis Unknown status NCT01662973 Phase 1, Phase 2
27 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of Repeat Doses of GSK2330672 Administration in Subjects With Primary Biliary Cirrhosis (PBC) and Symptoms of Pruritus Completed NCT01899703 Phase 2
28 Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome Completed NCT01903460 Phase 2
29 Phase 2b Study of NGM282 Extended Treatment in Patients With Primary Biliary Cirrhosis Completed NCT02135536 Phase 2
30 Phase 2 Study of NGM282 in Patients With Primary Biliary Cirrhosis Completed NCT02026401 Phase 2
31 Phase 2 Study to Evaluate LUM001 in Combination With Ursodeoxycholic Acid in Patients With Primary Biliary Cirrhosis Completed NCT01904058 Phase 2
32 Phase 2 Study on Effects of Obeticholic Acid (OCA) on Lipoprotein Metabolism in Subjects With Primary Biliary Cirrhosis Completed NCT01865812 Phase 2
33 A Study of Efficacy and Safety of Ustekinumab in Patients With Primary Biliary Cirrhosis (PBC) Who Had an Inadequate Response to Ursodeoxycholic Acid Completed NCT01389973 Phase 2
34 Pentoxifylline for Primary Biliary Cirrhosis Completed NCT01249092 Phase 2
35 Moexipril for Primary Biliary Cirrhosis Completed NCT00588302 Phase 2
36 Use of Fenofibrate for Primary Biliary Cirrhosis Completed NCT00575042 Phase 2
37 Study of INT-747 as Monotherapy in Patients With PBC Completed NCT00570765 Phase 2
38 Study of INT 747 in Combination With URSO in Patients With Primay Biliary Cirrhosis (PBC) Completed NCT00550862 Phase 2
39 Initial Study of Rituximab to Treat Primary Biliary Cirrhosis Completed NCT00364819 Phase 1, Phase 2
40 B-Cell Depleting Therapy (Rituximab) as a Treatment for Fatigue in Primary Biliary Cirrhosis Completed NCT02376335 Phase 2
41 Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome Completed NCT02057692 Phase 2
42 Treatment of Cholestatic Pruritus With Sertraline Completed NCT00058903 Phase 2
43 Efficacy and Safety of Fenofibrate Combined With UDCA in PBC Patients With an Incomplete Biochemical Response to UDCA Recruiting NCT02965911 Phase 1, Phase 2
44 MBX-8025 in Subjects With Primary Biliary Cholangitis (PBC) (8 Week, Dose Ranging, Open Label, Randomized Phase 2 With an Extension) Recruiting NCT02955602 Phase 2
45 Pilot Study of FFP104 Dose Escalation in PBC Subjects Recruiting NCT02193360 Phase 1, Phase 2
46 Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis Active, not recruiting NCT02057718 Phase 2
47 A Long-Term, Open-Label Study of LUM001 With a Double-Blind, Placebo Controlled, Randomized Drug Withdrawal Period to Evaluate Safety and Efficacy in Children With Alagille Syndrome Active, not recruiting NCT02160782 Phase 2
48 An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome Active, not recruiting NCT02117713 Phase 2
49 An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS) Active, not recruiting NCT02047318 Phase 2
50 A Study to Evaluate Safety, Tolerability and Efficacy of Saroglitazar Magnesium in Patients With Primary Biliary Cholangitis (EPICS) Not yet recruiting NCT03112681 Phase 2

Search NIH Clinical Center for Intrahepatic Cholestasis

Cochrane evidence based reviews: cholestasis, intrahepatic

Genetic Tests for Intrahepatic Cholestasis

Genetic tests related to Intrahepatic Cholestasis:

id Genetic test Affiliating Genes
1 Intrahepatic Cholestasis 29

Anatomical Context for Intrahepatic Cholestasis

MalaCards organs/tissues related to Intrahepatic Cholestasis:

39
Liver, Skin, Eye, Placenta, Testes, Heart, Appendix

Publications for Intrahepatic Cholestasis

Articles related to Intrahepatic Cholestasis:

(show top 50) (show all 793)
id Title Authors Year
1
Ursodeoxycholic acid therapy in intrahepatic cholestasis of pregnancy: Results in real-world conditions and factors predictive of response to treatment. ( 27825922 )
2017
2
Identification of Matrix Metalloproteinase-2 and 9 as Biomarker of Intrahepatic Cholestasis of Pregnancy. ( 28233754 )
2017
3
Two cases of first onset intrahepatic cholestasis of pregnancy associated with moderate ovarian hyperstimulation syndrome after IVF treatment and review of the literature. ( 28319428 )
2017
4
Ursodeoxycholic Acid Ameliorates Intrahepatic Cholestasis Independent of Biliary Bicarbonate Secretion in Vil2(kd/kd) Mice. ( 28049946 )
2017
5
Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis. ( 28073941 )
2017
6
Outcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis. ( 27916445 )
2017
7
Intrahepatic Cholestasis of Pregnancy with Severe Elevation of Bile Acids in the Setting of Acute Hepatitis C Infection. ( 27891271 )
2016
8
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis. ( 26879107 )
2016
9
The role of vitamin B1-B2 and plasma lipid profile in intrahepatic cholestasis of pregnancy. ( 27049609 )
2016
10
Increased PR Interval in Fetuses of Patients with Intrahepatic Cholestasis of Pregnancy. ( 26959834 )
2016
11
Liver transplantation and the management of progressive familial intrahepatic cholestasis in children. ( 27358773 )
2016
12
Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis? ( 26699824 )
2016
13
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. ( 27256251 )
2016
14
Interleukin 31 is involved in intrahepatic cholestasis of pregnancy. ( 27406853 )
2016
15
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis. ( 28064265 )
2016
16
A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter. ( 26796082 )
2016
17
Effects of andrographolide on intrahepatic cholestasis induced by alpha-naphthylisothiocyanate in rats. ( 27475677 )
2016
18
Benign Recurrent Intrahepatic Cholestasis in a Young Adult. ( 27504332 )
2016
19
Intestinal injury in the rat model of 17I+-ethynylestradiol-induced intrahepatic cholestasis. ( 27624611 )
2016
20
Early alterations of bile canaliculi dynamics and the ROCK/MLCK pathway are characteristics of drug-induced intrahepatic cholestasis. ( 27538918 )
2016
21
Role of inflammation in intrahepatic cholestasis of pregnancy. ( 26786878 )
2016
22
Cell-free DNA is higher and more fragmented in intrahepatic cholestasis of pregnancy. ( 27778350 )
2016
23
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis. ( 27239116 )
2016
24
Heterozygous Inactivation of the Nuclear Receptor PXR/NR1I2 in a Patient With Anabolic Steroid-Induced Intrahepatic Cholestasis. ( 27799961 )
2016
25
Intrahepatic cholestasis of pregnancy. ( 27103313 )
2016
26
Effect of intrahepatic cholestasis ofA pregnancy on maternal serum screeningA tests. ( 28009332 )
2016
27
A Comprehensive Evaluation of Steroid Metabolism in Women with Intrahepatic Cholestasis of Pregnancy. ( 27494119 )
2016
28
Is ursodeoxycholic acid effective for intrahepatic cholestasis of pregnancy? ( 26817509 )
2016
29
The Interaction of PPARI+ and CYP7B1 with ERI+, I^ Impacted the Occurrence and Development of Intrahepatic Cholestasis in Pregnant Rats. ( 27628953 )
2016
30
Alanine aminotransferase as a predictor of adverse perinatal outcomes in women with intrahepatic cholestasis of pregnancy. ( 27182252 )
2016
31
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. ( 26888176 )
2016
32
Asymptomatic elevated total serum bile acids representing an unusual form of intrahepatic cholestasis of pregnancy. ( 27481015 )
2016
33
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. ( 27932171 )
2016
34
The pathophysiology of intrahepatic cholestasis of pregnancy. ( 26823041 )
2016
35
A Efficacy and safety of ursodeoxycholic acid in patients with intrahepatic cholestasis of pregnancy. ( 27493115 )
2016
36
Lipoprotein lipase and lipid profiles in plasma and placenta from normal pregnancies compared with patients with intrahepatic cholestasis of pregnancy. ( 27400425 )
2016
37
[Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis]. ( 27577219 )
2016
38
Resveratrol reduces matrix metalloproteinases and alleviates intrahepatic cholestasis of pregnancy in rats. ( 26913826 )
2016
39
Early induction of labor in high-risk intrahepatic cholestasis of pregnancy: what are the costs? ( 26825731 )
2016
40
Mitochondrial gene expression profiles are associated with intrahepatic cholestasis of pregnancy. ( 27577705 )
2016
41
A Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. ( 26845599 )
2016
42
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. ( 26858187 )
2016
43
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. ( 26808426 )
2016
44
Hepatitis C infection and intrahepatic cholestasis of pregnancy: A systematic review and meta-analysis. ( 27542514 )
2016
45
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. ( 27075526 )
2016
46
Frequency of intrahepatic cholestasis of pregnancy in Punjab Pakistan: A single centre study. ( 26819169 )
2016
47
Identification of genes for normalization of real-time RT-PCR data in placental tissues from intrahepatic cholestasis of pregnancy. ( 27871465 )
2016
48
Cross-Sectional Analysis of Progressive Familial Intrahepatic Cholestasis in Puerto Rican Children. ( 27898169 )
2016
49
The risk of infant and fetal death by each additional week of expectant management in intrahepatic cholestasis of pregnancy by gestational age: variousA objections. ( 27448733 )
2016
50
Cytomegalovirus may mimic the presentation of intrahepatic cholestasis and hemolysis, elevated liver enzymes and low platelets in immunosuppressed pregnant women. ( 27630751 )
2016

Variations for Intrahepatic Cholestasis

ClinVar genetic disease variations for Intrahepatic Cholestasis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCB11 NM_003742.2(ABCB11): c.3148C> T (p.Arg1050Cys) single nucleotide variant Pathogenic rs72549398 GRCh37 Chromosome 2, 169788952: 169788952

Expression for Intrahepatic Cholestasis

Search GEO for disease gene expression data for Intrahepatic Cholestasis.

Pathways for Intrahepatic Cholestasis

Pathways related to Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 ABCB4 ABCC2 ALB ATP8B1 SLC17A5 SLCO1A2
2
Show member pathways
11.98 ABCB11 ALB NR1H4 SLC10A2 SLCO1A2 SLCO1B1
3
Show member pathways
11.81 ABCB11 ABCB4 ABCC2 SLCO1A2 SLCO1B1
4
Show member pathways
11.67 ABCB11 ABCC2 SLCO1A2 SLCO1B1
5
Show member pathways
11.64 NR1H4 NR1I2 NR1I3
7
Show member pathways
11.38 ABCC2 NR1I2 NR1I3
8 11.35 ABCB11 ABCB4 ABCC2 NR1H4 SLC10A2 SLCO1A2
9 11.18 ABCB11 ABCB4 ABCC2 NR1H4 NR1I2 NR1I3
10
Show member pathways
10.93 ABCC2 SLCO1B1
11 10.9 GGT1 GGT3P
12
Show member pathways
10.88 ABCC2 SLCO1A2 SLCO1B1
13 10.82 ABCB11 ABCB4 NR1H4
14 10.61 ABCC2 NR1I2
15 10.33 ABCB11 ABCC2 NR1H4 NR1I2 NR1I3 SLCO1B1

GO Terms for Intrahepatic Cholestasis

Cellular components related to Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.65 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 JAG1
2 apical plasma membrane GO:0016324 9.63 ABCB4 ABCC2 ATP8B1 JAG1 SLC10A2 TMEM30A
3 apical part of cell GO:0045177 9.58 ABCB11 ABCB4 JAG1
4 brush border membrane GO:0031526 9.5 ABCB4 ABCC2 ATP8B1
5 anchored component of external side of plasma membrane GO:0031362 9.43 GGT1 GGT3P
6 intercellular canaliculus GO:0046581 8.8 ABCB11 ABCB4 ABCC2
7 plasma membrane GO:0005886 10.18 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 GGT1
8 integral component of membrane GO:0016021 10.13 ABCB11 ABCB4 ABCC2 ATP8B1 ENPP2 GGT1

Biological processes related to Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 ABCB11 ABCB4 ABCC2 SLC10A2 SLC17A5 SLC25A13
2 transport GO:0006810 9.9 ABCB11 ABCB4 ABCC2 ALB ATP8B1 SLC10A2
3 lipid transport GO:0006869 9.77 ABCB4 ATP8B1 TMEM30A
4 steroid hormone mediated signaling pathway GO:0043401 9.69 NR1H4 NR1I2 NR1I3
5 intracellular receptor signaling pathway GO:0030522 9.63 NR1H4 NR1I2 NR1I3
6 leukotriene biosynthetic process GO:0019370 9.58 GGT1 GGT3P
7 glutathione biosynthetic process GO:0006750 9.58 GGT1 GGT3P
8 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.57 ABCB11 ABCC2
9 bile acid metabolic process GO:0008206 9.56 ATP8B1 NR1H4
10 glutathione catabolic process GO:0006751 9.55 GGT1 GGT3P
11 xenobiotic transport GO:0042908 9.54 ABCB4 NR1I2
12 sodium-independent organic anion transport GO:0043252 9.54 ALB SLCO1A2 SLCO1B1
13 thyroid hormone transport GO:0070327 9.52 ABCC2 SLCO1B1
14 organic anion transport GO:0015711 9.5 ABCC2 SLCO1A2 SLCO1B1
15 drug export GO:0046618 9.49 ABCB4 NR1I2
16 response to antineoplastic agent GO:0097327 9.48 ABCB4 ABCC2
17 phospholipid translocation GO:0045332 9.43 ABCB4 ATP8B1 TMEM30A
18 canalicular bile acid transport GO:0015722 9.4 ABCB11 ABCC2
19 drug transmembrane transport GO:0006855 9.26 ABCB4 ABCC2 ATP8B1 TMEM30A
20 bile acid and bile salt transport GO:0015721 9.17 ABCB11 ALB ATP8B1 NR1H4 SLC10A2 SLCO1A2

Molecular functions related to Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 organic anion transmembrane transporter activity GO:0008514 9.43 ABCC2 SLCO1A2
2 steroid hormone receptor activity GO:0003707 9.43 NR1H4 NR1I2 NR1I3
3 gamma-glutamyltransferase activity GO:0003840 9.4 GGT1 GGT3P
4 glutathione hydrolase activity GO:0036374 9.37 GGT1 GGT3P
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.33 ABCB11 ABCB4 ABCC2
6 bile acid transmembrane transporter activity GO:0015125 9.32 SLCO1A2 SLCO1B1
7 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.13 NR1H4 NR1I2 NR1I3
8 thyroid hormone receptor activity GO:0004887 8.8 NR1H4 NR1I2 NR1I3

Sources for Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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