MCID: FML355
MIFTS: 42

Familial Intrahepatic Cholestasis

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

Aliases & Classifications for Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Familial Intrahepatic Cholestasis:

Name: Familial Intrahepatic Cholestasis 58 6

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

ICD10 via Orphanet 33 K83.1
Orphanet 58 ORPHA284385

Summaries for Familial Intrahepatic Cholestasis

MalaCards based summary : Familial Intrahepatic Cholestasis is related to cholestasis, progressive familial intrahepatic, 5 and cholestasis, progressive familial intrahepatic, 4. An important gene associated with Familial Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Liver Extracts and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and placenta, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Familial Intrahepatic Cholestasis

Diseases in the Familial Intrahepatic Cholestasis family:

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

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 32.6 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 4 32.5 TJP2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
3 bile acid synthesis defect, congenital, 2 31.9 NR1H4 ABCB11
4 cholestasis, progressive familial intrahepatic, 3 31.5 TJP2 SLCO1B3 SLC10A2 NR1H4 ATP8B1 ABCC2
5 atp8b1 deficiency 31.4 NR1H4 ATP8B1 ABCB11
6 cholestasis, benign recurrent intrahepatic, 2 31.2 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
7 alagille syndrome 1 30.7 ATP8B1 ABCB4 ABCB11
8 cholestasis, progressive familial intrahepatic, 2 30.7 TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 FABP6
9 cholestasis, benign recurrent intrahepatic, 1 30.6 TMEM30A TJP2 SLCO1B1 SLC10A2 NR1H4 GGT1
10 cholestasis, intrahepatic, of pregnancy 3 30.6 ABCB4 ABCB11
11 liver disease 30.5 TJP2 NR1H4 GGT1 ATP8B1 ABCC2 ABCB4
12 intrahepatic cholestasis of pregnancy 30.5 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC2 ABCB4
13 cholangitis 30.4 NR1H4 GGT1 ABCB4 ABCB11
14 cholestasis 30.4 TJP2 SLCO1B1 SLC10A2 NR1H4 GGT1 ATP8B1
15 cholestasis, progressive familial intrahepatic, 1 30.3 TMEM30A TJP2 SLCO1B3 SLC10A2 NR1H4 LOC100505549
16 cholestasis, intrahepatic, of pregnancy, 1 30.0 SLC10A2 NR1H4 GGT3P GGT1 ATP8B1 ABCC2
17 biliary atresia 29.9 SLC10A2 NR1H4 GGT1 ATP8B1 ABCB4 ABCB11
18 primary biliary cholangitis 29.5 SLCO1B1 NR1H4 GGT1 ABCC2 ABCB4 ABCB11
19 bilirubin metabolic disorder 28.7 SLCO1B3 SLCO1B1 GGT1 ATP8B1 ABCC2 ABCB4
20 progressive familial intrahepatic cholestasis 28.5 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4
21 bile acid synthesis defect, congenital, 1 11.5
22 myo5b-related progressive familial intrahepatic cholestasis 11.2
23 gallbladder disease 1 11.2
24 arthrogryposis, renal dysfunction, and cholestasis 1 11.2
25 cholestasis-lymphedema syndrome 11.2
26 liver cirrhosis 10.6
27 autosomal recessive disease 10.6
28 non-alcoholic fatty liver disease 10.4
29 diarrhea 10.4
30 splenomegaly 10.4
31 portal hypertension 10.4
32 cholelithiasis 10.3
33 autosomal dominant non-syndromic intellectual disability 3 10.3 ABCB4 ABCB11
34 parenteral nutrition-associated cholestasis 10.2 GGT1 ABCB4
35 varicose veins 10.2
36 rickets 10.2
37 lipid metabolism disorder 10.2
38 colchicine resistance 10.2 ABCB11 ABCB1
39 common bile duct disease 10.2 ABCB4 ABCB11
40 bile duct cysts 10.2 ATP8B1 ABCB4 ABCB11
41 wilson disease 10.1
42 cholangiocarcinoma 10.1
43 intrahepatic cholangiocarcinoma 10.1
44 gallbladder disease 10.1 NR1H4 ABCB4 ABCB11
45 autoimmune cholangitis 10.1 GGT1 ABCB4
46 functional diarrhea 10.1 SLC10A2 NR1H4
47 pericholangitis 10.0 SLC10A2 ABCB4 ABCB11
48 fatty liver disease, nonalcoholic 1 10.0
49 metabolic acidosis 10.0
50 lymphoproliferative syndrome 10.0

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



Diseases related to Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Familial Intrahepatic Cholestasis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.36 GGT3P
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.36 GGT1 GGT3P
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.36 NR1H4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.36 GGT1 GGT3P
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.36 GGT1 GGT3P
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.36 NR1H4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.36 GGT1 GGT3P

MGI Mouse Phenotypes related to Familial Intrahepatic Cholestasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 ABCB1 ABCB11 ABCB4 ABCC2 ATP8A1 ATP8B1
2 homeostasis/metabolism MP:0005376 9.73 ABCB1 ABCB11 ABCB4 ABCC2 ATP8A1 ATP8B1
3 liver/biliary system MP:0005370 9.32 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 FABP6

Drugs & Therapeutics for Familial Intrahepatic Cholestasis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2 Bile Acids and Salts Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study to Demonstrate Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 1) Completed NCT03566238 Phase 3 A4250 (odevixibat);Placebo
2 MRX-502: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) - MARCH-PFIC Recruiting NCT03905330 Phase 3 Maralixibat
3 An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2) Recruiting NCT03659916 Phase 3 A4250 (odevixibat)
4 An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Enrolling by invitation NCT04185363 Phase 3 Maralixibat
5 Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Withdrawn NCT03353454 Phase 3 Maralixibat;Placebo
6 Open Label Study of the Efficacy and Long Term Safety of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Patients With Progressive Familial Intrahepatic Cholestasis Completed NCT02057718 Phase 2 LUM001
7 Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome Not yet recruiting NCT04729751 Phase 2 Maralixibat
8 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Recruiting NCT04071197
9 Odevixibat (A4250) for the Treatment of Progressive Familial Intrahepatic Cholestasis (Expanded Access Program) Available NCT04483531 Odevixibat
10 NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion (NAPPED Study), Meta-analysis of Individual Patient Data of PFIC Before and After Surgery (Bile Diversion or Liver Transplantation) Enrolling by invitation NCT03930810

Search NIH Clinical Center for Familial Intrahepatic Cholestasis

Genetic Tests for Familial Intrahepatic Cholestasis

Anatomical Context for Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Familial Intrahepatic Cholestasis:

40
Liver, Pancreas, Placenta, Skeletal Muscle, Appendix

Publications for Familial Intrahepatic Cholestasis

Articles related to Familial Intrahepatic Cholestasis:

(show top 50) (show all 612)
# Title Authors PMID Year
1
Long-term Outcomes of Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1. 61
33264179 2021
2
Liver Steatosis and Diarrhea After Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Can Biliary Diversion Solve These Problems? 61
33230072 2021
3
The Largest Single Center Report on Pediatric Liver Transplantation: Experiences and Lessons Learned. 61
32541224 2021
4
A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators. 61
33557414 2021
5
Recent Advances in the Clinical Application of Next-Generation Sequencing. 61
33505888 2021
6
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders. 61
32289814 2021
7
The zonula occludens protein family regulates the hepatic barrier system in the murine liver. 61
33184034 2021
8
Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study. 61
33406947 2021
9
Clinicohistological correlation of etiological spectrum of chronic liver disease diagnosed during noncirrhotic stages in children: Can need of liver biopsy be obviated? 61
33490609 2021
10
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. 61
33476544 2021
11
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages. 61
33437900 2021
12
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies. 61
33466755 2021
13
Letter to the editor - Liver cell models for premature termination codon readthrough analyses. 61
33314224 2020
14
Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report. 61
33376662 2020
15
Evaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz. 61
30836904 2020
16
Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. 61
31724928 2020
17
Molecular overview of progressive familial intrahepatic cholestasis. 61
33384548 2020
18
Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects. 61
33383947 2020
19
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3. 61
33340584 2020
20
Portal vein reconstruction using side-to-side unification technique for infant-to-infant deceased donor whole liver transplantation. 61
33234747 2020
21
Pediatric liver transplantation with hyperreduced left lateral segment graft. 61
33234754 2020
22
Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation. 61
33256620 2020
23
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression. 61
32808743 2020
24
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China. 61
33215027 2020
25
Ocular manifestations of liver disease in children: Clinical aspects and implications. 61
31901314 2020
26
Cholestasis Due to USP53 Deficiency. 61
33075013 2020
27
Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis. 61
33024920 2020
28
Nasobiliary drainage prior to surgical biliary diversion in progressive familial intrahepatic cholestasis type II. 61
32291498 2020
29
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma. 61
32893960 2020
30
Systematic Review and Meta-analysis: Partial External Biliary Diversion in Progressive Familial Intrahepatic Cholestasis. 61
32433433 2020
31
Side-to-side portal vein reconstruction for infant-to-infant deceased donor whole liver transplantation: Report of 2 cases with video. 61
32843595 2020
32
Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. 61
32492754 2020
33
Surgical diversion of enterohepatic circulation in pediatric cholestasis. 61
32861450 2020
34
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. 61
32433800 2020
35
Pharmacological premature termination codon readthrough of ABCB11 in bile salt export pump deficiency: an in vitro study. 61
32702170 2020
36
Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation. 61
32636225 2020
37
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. 61
31750554 2020
38
Partial Biliary Diversion May Promote Long-Term Relief of Pruritus and Native Liver Survival in Children with Cholestatic Liver Diseases. 61
32707578 2020
39
Ileal exclusion for pruritus treatment in children with progressive familial intrahepatic cholestasis and other cholestatic diseases. 61
31708211 2020
40
Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis. 61
32601135 2020
41
Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2. 61
32443059 2020
42
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure. 61
32443034 2020
43
Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3. 61
32597698 2020
44
Effects of partial internal biliary diversion on long-term outcomes in patients with progressive familial intrahepatic cholestasis: experience in 44 patients. 61
32206891 2020
45
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. 61
32229667 2020
46
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. 61
31335238 2020
47
Drugs and hepatic transporters: A review. 61
31004787 2020
48
Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report. 61
32321542 2020
49
Successful Treatment with Rituximab and Immunoadsorption for an Auto-Antibody Induced Bile Salt Export Pump Deficiency in a Liver Transplanted Patient. 61
32206630 2020
50
Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients. 61
32309332 2020

Variations for Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Familial Intrahepatic Cholestasis:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) SNV Pathogenic 6590 rs11568372 2:169847329-169847329 2:168990819-168990819
2 ATP8B1 NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) Microsatellite Pathogenic 918158 18:55351309-55351311 18:57684077-57684079
3 ABCB11 NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) SNV Uncertain significance 332024 rs200857579 2:169791916-169791916 2:168935406-168935406
4 ATP8B1 NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) SNV Uncertain significance 327475 rs199716374 18:55328476-55328476 18:57661244-57661244
5 ATP8B1 NM_005603.6(ATP8B1):c.3450C>T (p.Ile1150=) SNV Uncertain significance 327469 rs886054009 18:55317680-55317680 18:57650448-57650448
6 ABCB11 NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) SNV Uncertain significance 332032 rs886055066 2:169826665-169826665 2:168970155-168970155
7 ATP8B1 NM_005603.6(ATP8B1):c.2052C>T (p.Asp684=) SNV Uncertain significance 327482 rs370484798 18:55336595-55336595 18:57669363-57669363
8 ABCB11 NM_003742.4(ABCB11):c.*193G>C SNV Uncertain significance 332019 rs886055061 2:169779939-169779939 2:168923429-168923429
9 ATP8B1 NM_005603.6(ATP8B1):c.2098-30_2098-28dup Duplication Likely benign 327477 rs34422185 18:55335786-55335787 18:57668554-57668555
10 ATP8B1 NM_005603.6(ATP8B1):c.2098-30_2098-26dup Duplication Likely benign 327479 rs34422185 18:55335786-55335787 18:57668554-57668555
11 ATP8B1 NM_005603.6(ATP8B1):c.2098-30_2098-24dup Duplication Likely benign 327481 rs34422185 18:55335786-55335787 18:57668554-57668555
12 ATP8B1 NM_005603.6(ATP8B1):c.2098-30_2098-27dup Duplication Benign 327478 rs34422185 18:55335786-55335787 18:57668554-57668555
13 ATP8B1 NM_005603.6(ATP8B1):c.2098-30_2098-25dup Duplication Benign 327480 rs34422185 18:55335786-55335787 18:57668554-57668555
14 ATP8B1 NM_005603.6(ATP8B1):c.*2015del Deletion Benign 327438 rs35833803 18:55313705-55313705 18:57646473-57646473

Expression for Familial Intrahepatic Cholestasis

Search GEO for disease gene expression data for Familial Intrahepatic Cholestasis.

Pathways for Familial Intrahepatic Cholestasis

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 GGT3P GGT1
2
Show member pathways
13.21 SLCO1B3 SLCO1B1 ATP8B1 ATP8A1 ABCC2 ABCB4
3
Show member pathways
12.04 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 FABP6 ABCB11
4
Show member pathways
11.93 SLCO1B1 ABCC2 ABCB1
5
Show member pathways
11.9 SLCO1B1 ABCC2 ABCB4 ABCB11 ABCB1
6
Show member pathways
11.82 SLCO1B3 SLCO1B1 ABCC2 ABCB11 ABCB1
7
Show member pathways
11.58 SLCO1B3 SLCO1B1 ABCC2 ABCB1
8
Show member pathways
11.47 SLCO1B1 ABCC2 ABCB1
9
Show member pathways
11.4 SLCO1B3 ABCC2 ABCB1
10 11.25 SLCO1B3 SLCO1B1 ABCB1
11
Show member pathways
11.18 SLCO1B3 SLCO1B1 ABCB1
12 11.18 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ABCC2 ABCB4
13 11.1 NR1H4 ABCC2 ABCB4 ABCB11 ABCB1
14 10.95 ABCC2 ABCB1
15 10.95 GGT3P GGT1
16 10.91 NR1H4 ABCB4 ABCB11
17
Show member pathways
10.86 SLCO1B3 SLCO1B1 ABCC2 ABCB1
18 10.83 ABCC2 ABCB1
19 10.74 ABCC2 ABCB1
20 10.58 SLCO1B1 NR1H4 ABCC2 ABCB11 ABCB1
21 10.55 ABCC2 ABCB1

GO Terms for Familial Intrahepatic Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 MARCHF6
2 plasma membrane GO:0005886 10.18 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 GGT3P
3 integral component of membrane GO:0016021 10.1 TMEM30A SLCO1B3 SLCO1B1 SLC10A2 MARCHF6 GGT3P
4 integral component of plasma membrane GO:0005887 9.98 SLCO1B3 SLCO1B1 SLC10A2 ATP8B1 ABCC2 ABCB4
5 phospholipid-translocating ATPase complex GO:1990531 9.33 TMEM30A ATP8B1 ATP8A1
6 intracellular canaliculus GO:0046691 9.32 ABCC2 ABCB11
7 apical plasma membrane GO:0016324 9.17 TMEM30A SLC10A2 ATP8B1 ABCC2 ABCB4 ABCB11
8 intercellular canaliculus GO:0046581 9.13 ABCC2 ABCB4 ABCB11

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLCO1B3 SLCO1B1 SLC10A2 ATP8A1 ABCD4 ABCC2
2 response to estradiol GO:0032355 9.8 GGT3P GGT1 ABCC2
3 lipid transport GO:0006869 9.8 TMEM30A FABP6 ATP8B1 ATP8A1 ABCB4
4 phospholipid transport GO:0015914 9.71 TMEM30A ATP8B1 ATP8A1
5 sodium-independent organic anion transport GO:0043252 9.63 SLCO1B3 SLCO1B1
6 glutathione biosynthetic process GO:0006750 9.62 GGT3P GGT1
7 organic anion transport GO:0015711 9.62 SLCO1B3 SLCO1B1 ATP8B1 ABCC2
8 lipid translocation GO:0034204 9.61 ATP8B1 ATP8A1
9 bile acid signaling pathway GO:0038183 9.61 NR1H4 ABCC2
10 bile acid metabolic process GO:0008206 9.61 NR1H4 ATP8B1 ABCB11
11 glutathione catabolic process GO:0006751 9.6 GGT3P GGT1
12 leukotriene D4 biosynthetic process GO:1901750 9.59 GGT3P GGT1
13 transepithelial transport GO:0070633 9.58 ABCC2 ABCB1
14 regulation of immune system process GO:0002682 9.58 GGT3P GGT1
15 drug transport across blood-brain barrier GO:1990962 9.57 ABCC2 ABCB1
16 cellular response to bile acid GO:1903413 9.56 NR1H4 ABCB4
17 aminophospholipid transport GO:0015917 9.55 TMEM30A ATP8B1
18 positive regulation of phospholipid translocation GO:0061092 9.54 TMEM30A ATP8A1 ABCB4
19 canalicular bile acid transport GO:0015722 9.52 ABCC2 ABCB11
20 regulation of chloride transport GO:2001225 9.51 ATP8B1 ABCB1
21 ceramide translocation GO:0099040 9.49 ABCB4 ABCB1
22 drug export GO:0046618 9.48 ABCC2 ABCB11
23 peptide modification GO:0031179 9.46 GGT3P GGT1
24 drug transmembrane transport GO:0006855 9.46 TMEM30A ATP8B1 ABCC2 ABCB11
25 phospholipid translocation GO:0045332 9.35 TMEM30A ATP8B1 ATP8A1 ABCB4 ABCB1
26 bile acid and bile salt transport GO:0015721 9.17 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ATP8B1 ABCC2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.12 ATP8B1 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11
2 ATP binding GO:0005524 10.09 ATP8B1 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11
3 transmembrane transporter activity GO:0022857 9.72 SLCO1B3 SLCO1B1 ATP8A1 ABCC2 ABCB1
4 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.57 SLCO1B3 SLCO1B1
5 organic anion transmembrane transporter activity GO:0008514 9.56 SLCO1B3 ABCC2
6 glutathione hydrolase activity GO:0036374 9.54 GGT3P GGT1
7 xenobiotic transmembrane transporter activity GO:0042910 9.54 ABCC2 ABCB4 ABCB1
8 phosphatidylethanolamine-translocating ATPase activity GO:0090555 9.52 ABCB4 ABCB1
9 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.51 GGT3P GGT1
10 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.49 GGT3P GGT1
11 phosphatidylcholine-translocating ATPase activity GO:0090554 9.48 ABCB4 ABCB1
12 peptidyltransferase activity GO:0000048 9.46 GGT3P GGT1
13 aminophospholipid transmembrane transporter activity GO:0015247 9.43 TMEM30A ATP8B1
14 bile acid transmembrane transporter activity GO:0015125 9.43 SLCO1B3 SLCO1B1 ABCB11
15 ATPase activity GO:0016887 9.43 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
16 ceramide-translocating ATPase activity GO:0099038 9.4 ABCB4 ABCB1
17 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.33 ABCC2 ABCB11 ABCB1
18 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1

Sources for Familial Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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