MCID: FML355
MIFTS: 49

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 59 29 6

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

ICD10 via Orphanet 34 K83.1
Orphanet 59 ORPHA284385

Summaries for Familial Intrahepatic Cholestasis

MalaCards based summary : Familial Intrahepatic Cholestasis is related to cholestasis, progressive familial intrahepatic, 3 and cholestasis, progressive familial intrahepatic, 2, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Familial Intrahepatic Cholestasis is ABCB11 (ATP Binding Cassette Subfamily B Member 11), 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 Bile Acids and Salts and Estrogens have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and testes, and related phenotypes are homeostasis/metabolism and liver/biliary system

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

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 3 34.4 ATP8B1 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 2 34.1 NR1H4 ATP8B1 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 4 34.0 TJP2 ATP8B1 ABCB4 ABCB11
4 cholestasis, benign recurrent intrahepatic, 1 33.8 SLC10A2 ATP8B1 ABCB11
5 cholestasis, progressive familial intrahepatic, 1 33.5 SLC10A2 NR1H4 ATP8B1 ABCB4 ABCB11
6 cholestasis, benign recurrent intrahepatic, 2 33.2 ATP8B1 ABCB11
7 atp8b1 deficiency 31.6 NR1H4 ATP8B1 ABCB11
8 progressive familial intrahepatic cholestasis 31.2 TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 FABP6
9 alagille syndrome 1 30.8 ATP8B1 ABCB4 ABCB11
10 cholangitis 30.6 GGT1 ABCB4 ABCB11
11 liver disease 30.6 NR1H4 GGT1 ATP8B1 ABCB4 ABCB11
12 biliary atresia 30.1 SLC10A2 NR1H4 ATP8B1
13 cholestasis 29.7 TJP2 SLCO1B1 SLC10A2 NR1H4 GGT1 ATP8B1
14 intrahepatic cholestasis of pregnancy 29.1 TMEM30A SLCO1B3 SLCO1B1 SLC10A2 NR1H4 GGT1
15 myo5b-related progressive familial intrahepatic cholestasis 12.5
16 cholestasis, progressive familial intrahepatic, 5 12.4
17 bile acid synthesis defect, congenital, 1 12.2
18 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
19 cholestasis-lymphedema syndrome 11.4
20 bile acid synthesis defect, congenital, 2 11.4
21 cholestasis, intrahepatic, of pregnancy, 1 10.6
22 liver cirrhosis 10.5
23 autosomal recessive disease 10.4
24 splenomegaly 10.4
25 portal hypertension 10.3
26 diarrhea 10.3
27 cholelithiasis 10.2
28 hepatocellular carcinoma 10.2
29 ataxia and polyneuropathy, adult-onset 10.2
30 cholestasis, intrahepatic, of pregnancy 3 10.2
31 47,xyy 10.2
32 extrahepatic cholestasis 10.1 GGT1 ABCC2 ABCB4
33 varicose veins 10.1
34 wilson disease 10.1
35 gallbladder disease 1 10.1
36 steatorrhea 10.1
37 rickets 10.1
38 primary biliary cirrhosis 10.1
39 acute liver failure 10.1
40 sclerosing cholangitis 10.1 NR1H4 GGT1 ABCB4 ABCB11
41 colchicine resistance 10.0 ABCB11 ABCB1
42 atrial standstill 1 9.9
43 abetalipoproteinemia 9.9
44 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
45 retinitis pigmentosa 9.9
46 kearns-sayre syndrome 9.9
47 branchiootic syndrome 1 9.9
48 fatty liver disease, nonalcoholic 1 9.9
49 cholangiocarcinoma 9.9
50 encephalopathy, progressive, with or without lipodystrophy 9.9

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



Diseases related to Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Familial Intrahepatic Cholestasis

UMLS symptoms related to Familial Intrahepatic Cholestasis:


pruritus, diarrhea, icterus

MGI Mouse Phenotypes related to Familial Intrahepatic Cholestasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCB1 ABCB11 ABCB4 ABCC2 ATP8A1 ATP8B1
2 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):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 2
2 Estrogens
3 Alpha 1-Antitrypsin
4 Protein C Inhibitor
5 Gastrointestinal Agents
6 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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) Recruiting NCT03566238 Phase 3 A4250 (odevixibat);Placebo
4 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
5 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 Active, not recruiting NCT02057718 Phase 2 LUM001
6 Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group. Completed NCT00700232
7 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis Recruiting NCT00571272
8 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
9 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
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

Genetic tests related to Familial Intrahepatic Cholestasis:

# Genetic test Affiliating Genes
1 Familial Intrahepatic Cholestasis 29

Anatomical Context for Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Familial Intrahepatic Cholestasis:

41
Liver, Pancreas, Testes, Bone, Placenta, Heart, Skeletal Muscle

Publications for Familial Intrahepatic Cholestasis

Articles related to Familial Intrahepatic Cholestasis:

(show top 50) (show all 553)
# Title Authors PMID Year
1
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. 38
31160058 2019
2
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 38
31400129 2019
3
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. 38
31335238 2019
4
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. 38
31091858 2019
5
Familial intrahepatic cholestasis: New and wide perspectives. 38
31105019 2019
6
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 38
30935993 2019
7
Plectin Mutations in Progressive Familial Intrahepatic Cholestasis. 38
31269534 2019
8
Targeting FXR in Cholestasis. 38
31201556 2019
9
First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion. 38
30801955 2019
10
Expanding etiology of progressive familial intrahepatic cholestasis. 38
31183005 2019
11
Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy. 38
31099022 2019
12
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 38
31083246 2019
13
Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report. 38
31145285 2019
14
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 38
31015375 2019
15
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 38
31083836 2019
16
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 38
31040306 2019
17
Posttransplant epithelioid inflammatory myofibroblastic sarcoma: A case report. 38
30971562 2019
18
Drugs and hepatic transporters: A review. 38
31004787 2019
19
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine. 38
30730833 2019
20
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine). 38
30509129 2019
21
Evaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz. 38
30836904 2019
22
Systematic review of progressive familial intrahepatic cholestasis. 38
30236549 2019
23
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges. 38
30366773 2019
24
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis. 38
30664572 2019
25
Neurological Complications associated with Pediatric Liver Transplant in Namazi Hospital: One-Year Follow-Up. 38
30891167 2019
26
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2: Role of Surgery with Brief Review of Literature. 38
30686894 2019
27
Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. 38
30658709 2019
28
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 38
30416103 2019
29
Constitutive Androstane Receptor Differentially Regulates Bile Acid Homeostasis in Mouse Models of Intrahepatic Cholestasis. 38
30620001 2019
30
[Clinical and pathological features of inherited metabolic liver disease in adults]. 38
30669779 2018
31
Long-term outcomes after cholecystocolostomy for progressive familial intrahepatic cholestasis. 38
29934967 2018
32
Progressive Familial Intrahepatic Cholestasis. 38
30266155 2018
33
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. 38
30357767 2018
34
Quality of Life in Patients With Progressive Familial Intrahepatic Cholestasis: No Difference Between Post-liver Transplantation and Post-partial External Biliary Diversion. 38
30052569 2018
35
Surgical management of children and adolescents with upfront completely resected hepatocellular carcinoma. 38
29968976 2018
36
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. 38
30036524 2018
37
Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 38
30416319 2018
38
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. 38
30367658 2018
39
[Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3]. 38
30298496 2018
40
Allogeneic haematopoietic stem cell transplantation eliminates alloreactive inhibitory antibodies after liver transplantation for bile salt export pump deficiency. 38
29935200 2018
41
[Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II]. 38
30210030 2018
42
Histological changes of the intestinal mucosa in complications following a living donor liver transplantation for progressive familial intrahepatic cholestasis type 1. 38
29935008 2018
43
Pediatric hepatocellular carcinoma. 38
30254403 2018
44
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. 38
30250015 2018
45
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing. 38
29238877 2018
46
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. 38
29973134 2018
47
Diaphragmatic Hernia After Liver Transplant in Children: Report of 2 Cases. 38
27143191 2018
48
Dual catenin loss in murine liver causes tight junctional deregulation and progressive intrahepatic cholestasis. 38
29023813 2018
49
Surgical treatment for intractable pruritus in progressive familial intrahepatic cholestasis. 38
30323368 2018
50
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. 38
29718219 2018

Variations for Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Familial Intrahepatic Cholestasis:

6 (show top 50) (show all 151)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCB11 NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 2:169847329-169847329 2:168990819-168990819
2 ATP8B1 NM_005603.6(ATP8B1): c.150A> G (p.Glu50=) single nucleotide variant Conflicting interpretations of pathogenicity rs137973298 18:55398890-55398890 18:57731658-57731658
3 ABCB11 NM_003742.4(ABCB11): c.2943C> T (p.Tyr981=) single nucleotide variant Conflicting interpretations of pathogenicity rs145720664 2:169791807-169791807 2:168935297-168935297
4 ATP8B1 NM_005603.6(ATP8B1): c.3696G> A (p.Ser1232=) single nucleotide variant Conflicting interpretations of pathogenicity rs754912569 18:55315780-55315780 18:57648548-57648548
5 ATP8B1 NM_005603.6(ATP8B1): c.2988C> T (p.Pro996=) single nucleotide variant Conflicting interpretations of pathogenicity rs776385207 18:55321251-55321251 18:57654019-57654019
6 ABCB4 NM_018849.3(ABCB4): c.1893+6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs8187798 7:87060714-87060714 7:87431398-87431398
7 ATP8B1 NM_005603.6(ATP8B1): c.1177A> G (p.Ile393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34315917 18:55359082-55359082 18:57691850-57691850
8 ABCB4 NM_018849.3(ABCB4): c.3037A> C (p.Arg1013=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230029 7:87038596-87038596 7:87409280-87409280
9 ABCB11 NM_003742.4(ABCB11): c.930C> T (p.Phe310=) single nucleotide variant Conflicting interpretations of pathogenicity rs372382608 2:169842773-169842773 2:168986263-168986263
10 ABCB11 NM_003742.4(ABCB11): c.3330G> A (p.Ala1110=) single nucleotide variant Conflicting interpretations of pathogenicity rs113099601 2:169787256-169787256 2:168930746-168930746
11 ABCB11 NM_003742.4(ABCB11): c.1124A> G (p.Asn375Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs572222881 2:169836449-169836449 2:168979939-168979939
12 ABCB4 NM_018849.3(ABCB4): c.696C> T (p.Ala232=) single nucleotide variant Conflicting interpretations of pathogenicity rs8187791 7:87080951-87080951 7:87451635-87451635
13 ABCB4 NM_018849.3(ABCB4): c.1938T> C (p.Asp646=) single nucleotide variant Conflicting interpretations of pathogenicity rs553616378 7:87056192-87056192 7:87426876-87426876
14 ABCB4 NM_018849.3(ABCB4): c.3306C> T (p.Leu1102=) single nucleotide variant Conflicting interpretations of pathogenicity rs561612231 7:87035805-87035805 7:87406489-87406489
15 ATP8B1 NM_005603.6(ATP8B1): c.1072G> A (p.Gly358Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193204986 18:55359187-55359187 18:57691955-57691955
16 ATP8B1 NM_005603.6(ATP8B1): c.-48C> T single nucleotide variant Conflicting interpretations of pathogenicity rs150844949 18:55470255-55470255 18:57803023-57803023
17 ATP8B1 NM_005603.6(ATP8B1): c.-22-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs35671095 18:55399070-55399070 18:57731838-57731838
18 ATP8B1 NM_005603.6(ATP8B1): c.-32C> A single nucleotide variant Uncertain significance rs886054015 18:55470239-55470239 18:57803007-57803007
19 ATP8B1 NM_005603.6(ATP8B1): c.1556G> A (p.Gly519Glu) single nucleotide variant Uncertain significance rs886054011 18:55351342-55351342 18:57684110-57684110
20 ATP8B1 NM_005603.6(ATP8B1): c.*1524T> C single nucleotide variant Uncertain significance rs886054000 18:55314196-55314196 18:57646964-57646964
21 ATP8B1 NM_005603.6(ATP8B1): c.494C> G (p.Ala165Gly) single nucleotide variant Uncertain significance rs886054014 18:55368331-55368331 18:57701099-57701099
22 ATP8B1 NM_005603.6(ATP8B1): c.222C> A (p.His74Gln) single nucleotide variant Uncertain significance rs145214384 18:55373779-55373779 18:57706547-57706547
23 ATP8B1 NM_005603.6(ATP8B1): c.*968T> A single nucleotide variant Uncertain significance rs886054002 18:55314752-55314752 18:57647520-57647520
24 ATP8B1 NM_005603.6(ATP8B1): c.*503G> T single nucleotide variant Uncertain significance rs187993447 18:55315217-55315217 18:57647985-57647985
25 ABCB4 NM_018849.3(ABCB4): c.2535T> C (p.Gly845=) single nucleotide variant Uncertain significance rs545534537 7:87046775-87046775 7:87417459-87417459
26 ABCB4 NM_018849.3(ABCB4): c.1858A> G (p.Lys620Glu) single nucleotide variant Uncertain significance rs886062460 7:87060755-87060755 7:87431439-87431439
27 ABCB4 NM_018849.3(ABCB4): c.-18G> T single nucleotide variant Uncertain significance rs886062461 7:87104961-87104961 7:87475645-87475645
28 ATP8B1 NM_005603.6(ATP8B1): c.*1553T> G single nucleotide variant Uncertain significance rs559805305 18:55314167-55314167 18:57646935-57646935
29 ATP8B1 NM_005603.6(ATP8B1): c.*1095A> T single nucleotide variant Uncertain significance rs886054001 18:55314625-55314625 18:57647393-57647393
30 ATP8B1 NM_005603.6(ATP8B1): c.1888C> T (p.His630Tyr) single nucleotide variant Uncertain significance rs202100663 18:55338744-55338744 18:57671512-57671512
31 ATP8B1 NM_005603.6(ATP8B1): c.*651T> C single nucleotide variant Uncertain significance rs886054005 18:55315069-55315069 18:57647837-57647837
32 ATP8B1 NM_005603.6(ATP8B1): c.*646G> C single nucleotide variant Uncertain significance rs886054006 18:55315074-55315074 18:57647842-57647842
33 ATP8B1 NM_005603.6(ATP8B1): c.*426G> A single nucleotide variant Uncertain significance rs192231911 18:55315294-55315294 18:57648062-57648062
34 ATP8B1 NM_005603.6(ATP8B1): c.*132C> G single nucleotide variant Uncertain significance rs745786597 18:55315588-55315588 18:57648356-57648356
35 ATP8B1 NM_005603.6(ATP8B1): c.3654G> A (p.Ala1218=) single nucleotide variant Uncertain significance rs778786114 18:55315822-55315822 18:57648590-57648590
36 ATP8B1 NM_005603.6(ATP8B1): c.3450C> T (p.Ile1150=) single nucleotide variant Uncertain significance rs886054009 18:55317680-55317680 18:57650448-57650448
37 ATP8B1 NM_005603.6(ATP8B1): c.2968G> A (p.Val990Met) single nucleotide variant Uncertain significance rs747325752 18:55321271-55321271 18:57654039-57654039
38 ATP8B1 NM_005603.6(ATP8B1): c.2498G> A (p.Arg833Gln) single nucleotide variant Uncertain significance rs568134011 18:55328615-55328615 18:57661383-57661383
39 ABCB4 NM_018849.3(ABCB4): c.3231G> A (p.Thr1077=) single nucleotide variant Uncertain significance rs376825608 7:87037401-87037401 7:87408085-87408085
40 ABCB4 NM_018849.3(ABCB4): c.1982G> A (p.Arg661His) single nucleotide variant Uncertain significance rs532332220 7:87056148-87056148 7:87426832-87426832
41 ABCB4 NM_018849.3(ABCB4): c.1970G> T (p.Gly657Val) single nucleotide variant Uncertain significance rs367709575 7:87056160-87056160 7:87426844-87426844
42 ABCB4 NM_018849.3(ABCB4): c.927T> C (p.Tyr309=) single nucleotide variant Uncertain significance rs199504845 7:87076428-87076428 7:87447112-87447112
43 ABCB11 NM_003742.4(ABCB11): c.2800G> A (p.Glu934Lys) single nucleotide variant Uncertain significance rs755362375 2:169792754-169792754 2:168936244-168936244
44 ABCB11 NM_003742.4(ABCB11): c.2016A> T (p.Ala672=) single nucleotide variant Uncertain significance rs886055065 2:169824996-169824996 2:168968486-168968486
45 ABCB11 NM_003742.4(ABCB11): c.1638+6C> G single nucleotide variant Uncertain significance rs886055067 2:169828351-169828351 2:168971841-168971841
46 ABCB4 NM_018849.3(ABCB4): c.2055C> T (p.Thr685=) single nucleotide variant Uncertain significance rs747255117 7:87056075-87056075 7:87426759-87426759
47 ABCB4 NM_018849.3(ABCB4): c.2047G> A (p.Val683Met) single nucleotide variant Uncertain significance rs776616540 7:87056083-87056083 7:87426767-87426767
48 ABCB11 NM_003742.4(ABCB11): c.*252T> A single nucleotide variant Uncertain significance rs886055060 2:169779880-169779880 2:168923370-168923370
49 ABCB11 NM_003742.4(ABCB11): c.3190T> C (p.Tyr1064His) single nucleotide variant Uncertain significance rs886055062 2:169788910-169788910 2:168932400-168932400
50 ABCB11 NM_003742.4(ABCB11): c.2927A> G (p.Gln976Arg) single nucleotide variant Uncertain significance rs199940188 2:169791823-169791823 2:168935313-168935313

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 GGT3P GGT1
2
Show member pathways
13.15 SLCO1B3 SLCO1B1 ATP8B1 ATP8A1 ABCC2 ABCB4
3
Show member pathways
12.04 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 FABP6 ABCB11
4
Show member pathways
11.9 SLCO1B1 ABCC2 ABCB4 ABCB11 ABCB1
5
Show member pathways
11.88 SLCO1B1 ABCC2 ABCB1
6
Show member pathways
11.82 SLCO1B3 SLCO1B1 ABCC2 ABCB11 ABCB1
7 11.1 NR1H4 ABCC2 ABCB4 ABCB11 ABCB1
8 11.08 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ABCC2 ABCB4
9 10.9 ABCC2 ABCB1
10 10.89 GGT3P GGT1
11 10.89 NR1H4 ABCB4 ABCB11
12
Show member pathways
10.86 SLCO1B3 SLCO1B1 ABCC2 ABCB1
13 10.77 ABCC2 ABCB1
14 10.58 SLCO1B1 NR1H4 ABCC2 ABCB11 ABCB1
15 10.46 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 integral component of membrane GO:0016021 9.97 TMEM30A SLCO1B3 SLCO1B1 SLC10A2 GGT3P GGT1
2 integral component of plasma membrane GO:0005887 9.8 SLCO1B3 SLCO1B1 SLC10A2 ATP8B1 ABCC2 ABCB4
3 apical plasma membrane GO:0016324 9.43 TMEM30A SLC10A2 ATP8B1 ABCC2 ABCB4 ABCB1
4 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11
5 membrane GO:0016020 10.21 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 GGT1
6 plasma membrane GO:0005886 10.1 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 GGT1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 SLCO1B3 SLCO1B1 SLC10A2 ABCD4 ABCC2 ABCB4
2 response to lipopolysaccharide GO:0032496 9.79 GGT3P GGT1 ABCC2
3 lipid transport GO:0006869 9.72 TMEM30A FABP6 ATP8B1 ATP8A1 ABCB4
4 phospholipid transport GO:0015914 9.65 TMEM30A ATP8B1 ATP8A1
5 response to tumor necrosis factor GO:0034612 9.61 GGT3P GGT1
6 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.61 ATP8A1 ABCB11
7 sodium-independent organic anion transport GO:0043252 9.59 SLCO1B3 SLCO1B1
8 glutathione biosynthetic process GO:0006750 9.58 GGT3P GGT1
9 bile acid metabolic process GO:0008206 9.58 NR1H4 ATP8B1
10 glutathione catabolic process GO:0006751 9.57 GGT3P GGT1
11 organic anion transport GO:0015711 9.56 SLCO1B3 SLCO1B1
12 leukotriene D4 biosynthetic process GO:1901750 9.55 GGT3P GGT1
13 phospholipid translocation GO:0045332 9.55 TMEM30A ATP8B1 ATP8A1 ABCB4 ABCB1
14 regulation of immune system process GO:0002682 9.51 GGT3P GGT1
15 aminophospholipid transport GO:0015917 9.49 TMEM30A ATP8B1
16 canalicular bile acid transport GO:0015722 9.46 ABCC2 ABCB11
17 positive regulation of phospholipid translocation GO:0061092 9.43 ATP8A1 ABCB4
18 peptide modification GO:0031179 9.4 GGT3P GGT1
19 ceramide translocation GO:0099040 9.37 ABCB4 ABCB1
20 glutamate metabolic process GO:0006536 9.3 GGT1
21 thyroid hormone transport GO:0070327 9.24 ABCC2
22 cysteine biosynthetic process GO:0019344 9.22 GGT1
23 drug transmembrane transport GO:0006855 9.13 TMEM30A ATP8B1 ABCC2
24 bile acid and bile salt transport GO:0015721 9.1 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ATP8B1 ABCB11

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.56 SLCO1B3 SLCO1B1
2 ATPase activity GO:0016887 9.55 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
3 organic anion transmembrane transporter activity GO:0008514 9.54 SLCO1B3 ABCC2
4 bile acid transmembrane transporter activity GO:0015125 9.52 SLCO1B3 SLCO1B1
5 glutathione hydrolase activity GO:0036374 9.51 GGT3P GGT1
6 peptidyltransferase activity GO:0000048 9.46 GGT3P GGT1
7 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.43 GGT3P GGT1
8 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.4 GGT3P GGT1
9 phosphatidylcholine-translocating ATPase activity GO:0090554 9.37 ABCB4 ABCB1
10 aminophospholipid transmembrane transporter activity GO:0015247 9.32 TMEM30A ATP8B1
11 ceramide-translocating ATPase activity GO:0099038 9.26 ABCB4 ABCB1
12 bile acid binding GO:0032052 9.19 NR1H4
13 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.18 ABCB1
14 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
15 phospholipid-translocating ATPase activity GO:0004012 8.96 ATP8B1 ATP8A1
16 ATP binding GO:0005524 10.09 ATP8B1 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11

Sources for Familial Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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