PFIC3
MCID: CHL137
MIFTS: 47

Cholestasis, Progressive Familial Intrahepatic, 3 (PFIC3)

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 3

MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 3:

Name: Cholestasis, Progressive Familial Intrahepatic, 3 57 74
Pfic3 57 12 53 59 74 55
Cholestasis, Progressive Familial Intrahepatic 3 57 75 13 44 72
Progressive Familial Intrahepatic Cholestasis 3 12 29 6 15
Mdr3 Deficiency 57 12 53 74
Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gamma-Glutamyltransferase 53 74
Progressive Familial Intrahepatic Cholestasis Type 3 53 59
Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase 57
Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gama-Glutamyltransferase 12
Cholestasis, Intrahepatic, Familial, Progressive, Type 3 40

Characteristics:

Orphanet epidemiological data:

59
progressive familial intrahepatic cholestasis type 3
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
genetic heterogeneity (see pfic1, )
carrier females may develop intrahepatic cholestasis of pregnancy (icp, )


HPO:

32
cholestasis, progressive familial intrahepatic, 3:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070223
MESH via Orphanet 45 C535935
ICD10 via Orphanet 34 K76.8
UMLS via Orphanet 73 C1865643
Orphanet 59 ORPHA79305
MedGen 42 C1865643
UMLS 72 C1865643

Summaries for Cholestasis, Progressive Familial Intrahepatic, 3

NIH Rare Diseases : 53 Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during late infancy or early childhood, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). The condition may progress to liver failure during childhood or adulthood. PFIC3 is caused by change (mutations) in the ABCB4 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.

MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic, 3, also known as pfic3, is related to progressive familial intrahepatic cholestasis and cholestasis, benign recurrent intrahepatic, 1, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 3 is ABCB4 (ATP Binding Cassette Subfamily B Member 4), and among its related pathways/superpathways are Hepatic ABC Transporters and Bile secretion. The drugs Gastrointestinal Agents and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and testes, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has material basis in mutation in the ABCB4 gene on chromosome 7q21.12.

UniProtKB/Swiss-Prot : 74 Cholestasis, progressive familial intrahepatic, 3: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

Wikipedia : 75 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

More information from OMIM: 602347 PS211600

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 3

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 Cholestasis, Progressive Familial Intrahepatic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 progressive familial intrahepatic cholestasis 32.3 ATP8B1 ABCB4 ABCB11
2 cholestasis, benign recurrent intrahepatic, 1 31.7 ATP8B1 ATP11C ABCB11
3 cholestasis, progressive familial intrahepatic, 1 30.4 JAG1 ATP8B1 ATP11C ABCB4 ABCB11
4 atp8b1 deficiency 30.1 ATP8B1 ABCB11
5 cholestasis 29.3 JAG1 ATP8B1 ABCB4 ABCB11
6 biliary atresia 29.3 JAG1 ATP8B1
7 intrahepatic cholestasis of pregnancy 28.6 JAG1 ATP8B1 ABCB4 ABCB11
8 gallbladder disease 1 11.2
9 familial intrahepatic cholestasis 10.4
10 autosomal recessive disease 10.3
11 wilson disease 10.3
12 cholestasis, intrahepatic, of pregnancy, 1 10.2
13 portal hypertension 10.1
14 hepatocellular carcinoma 10.1
15 cholecystitis 10.1
16 liver cirrhosis 10.1
17 splenomegaly 10.1
18 posttransplant acute limbic encephalitis 10.1
19 cholelithiasis 10.0
20 steatorrhea 10.0
21 cholestasis, benign recurrent intrahepatic, 2 9.9 ATP8B1 ABCB11
22 sclerosing cholangitis 9.9 ABCB4 ABCB11
23 cholangitis 9.8 ABCB4 ABCB11
24 cholestasis, progressive familial intrahepatic, 4 9.7 ATP8B1 ABCB4 ABCB11
25 cholestasis, progressive familial intrahepatic, 2 9.7 ATP8B1 ABCB4 ABCB11
26 bile duct disease 9.6 ATP8B1 ABCB4 ABCB11
27 biliary tract disease 9.6 ATP8B1 ABCB4 ABCB11
28 liver disease 9.5 ATP8B1 ABCB4 ABCB11
29 alagille syndrome 1 9.1 JAG1 ATP8B1 ABCB4 ABCB11

Graphical network of the top 20 diseases related to Cholestasis, Progressive Familial Intrahepatic, 3:



Diseases related to Cholestasis, Progressive Familial Intrahepatic, 3

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 3

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 3:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 malabsorption 32 HP:0002024
4 pruritus 32 HP:0000989
5 cirrhosis 32 HP:0001394
6 elevated hepatic transaminase 32 HP:0002910
7 jaundice 32 HP:0000952
8 diarrhea 32 HP:0002014
9 intrahepatic cholestasis 32 HP:0001406
10 portal fibrosis 32 HP:0006580
11 bile duct proliferation 32 HP:0001408

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
pruritus
jaundice

Laboratory Abnormalities:
abnormal liver function tests
increased serum bile acids
increased serum gamma-ggt ()

Abdomen Liver:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
end-stage liver disease before adulthood
more
Abdomen Gastrointestinal:
diarrhea
malabsorption of fat and fat-soluble vitamins

Clinical features from OMIM:

602347

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 3:


pruritus, diarrhea, icterus

GenomeRNAi Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vaccinia virus (VACV-LREV ) gene expression GR00351-A-2 8.62 ATP8B1 JAG1

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 ABCB11 ABCB4 ATP8B1 JAG1

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 3

Drugs for Cholestasis, Progressive Familial Intrahepatic, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gastrointestinal Agents
2 Bile Acids and Salts
3 Lecithin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Tolerance of RADIOEMBOLIZATION for Patients With Unresectable Intrahepatic Cholangiocarcinoma With Tumor Progression After First-line Therapy Terminated NCT01383746 Phase 1, Phase 2
2 Intralumenal Effects on Cholesterol Absorption/Synthesis Completed NCT00328211 Pluronic F-68

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic, 3

Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 3

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 3

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic, 3:

# Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 3 29 ABCB4

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 3

MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 3:

41
Liver, Spleen, Testes

Publications for Cholestasis, Progressive Familial Intrahepatic, 3

Articles related to Cholestasis, Progressive Familial Intrahepatic, 3:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. 8 71
9923886 1999
2
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. 8 71
9419367 1998
3
Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. 8 71
8666348 1996
4
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). 9 38 8
17726488 2007
5
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. 9 38
20414253 2010
6
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 9 38
20422496 2010
7
Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. 9 38
19840255 2010
8
[Genetic cholestasis]. 9 38
19753442 2009
9
Progressive familial intrahepatic cholestasis. 9 38
19133130 2009
10
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. 9 38
17241866 2007
11
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). 9 38
16763017 2006
12
Effect of mdr2 mutation with combined tandem disruption of canalicular glycoprotein transporters by cyclosporine A on bile formation in mice. 9 38
12967592 2003
13
Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. 9 38
11745043 2001
14
Familial intrahepatic cholestasis: New and wide perspectives. 38
31105019 2019
15
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 38
30935993 2019
16
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
17
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 38
31083246 2019
18
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 38
31040306 2019
19
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 38
30416103 2019
20
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. 38
30036524 2018
21
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. 38
30357767 2018
22
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. 38
30367658 2018
23
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. 38
30250015 2018
24
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. 38
29761167 2018
25
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770). 38
28012258 2017
26
Current and future therapies for inherited cholestatic liver diseases. 38
28223721 2017
27
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis. 38
30755924 2017
28
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease. 38
27788395 2016
29
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. 38
27075526 2016
30
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. 38
27256251 2016
31
Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. 38
31196404 2016
32
 Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. 38
26845599 2016
33
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. 38
26324191 2016
34
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. 38
26473142 2015
35
Elevated copper impairs hepatic nuclear receptor function in Wilson's disease. 38
26241054 2015
36
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. 38
25593501 2015
37
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. 38
24594635 2015
38
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane. 38
25315773 2014
39
Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis. 38
25068656 2014
40
ABCB4: Insights from pathobiology into therapy. 38
24953525 2014
41
Progressive familial intrahepatic cholestasis. 38
25755532 2014
42
Progressive familial intrahepatic cholestasis. 38
23141890 2012
43
Hepatobiliary transport in health and disease. 38
22859919 2012
44
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. 38
21989363 2012
45
Canalicular ABC transporters and liver disease. 38
21984474 2012
46
Liver disease associated with canalicular transport defects: current and future therapies. 38
20034695 2010
47
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. 38
19185004 2009
48
Liver diseases related to MDR3 (ABCB4) gene deficiency. 38
19273348 2009
49
Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus. 38
19030215 2008
50
Dietary lecithin protects against cholestatic liver disease in cholic acid-fed Abcb4- deficient mice. 38
17237720 2007

Variations for Cholestasis, Progressive Familial Intrahepatic, 3

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 3:

6 (show all 15)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCB4 NM_018849.3(ABCB4): c.394_400del (p.Tyr132fs) deletion Pathogenic rs387906526 7:87082396-87082402 7:87453080-87453086
2 ABCB4 NM_018849.3(ABCB4): c.1712del (p.Val571fs) deletion Pathogenic rs387906527 7:87069002-87069002 7:87439686-87439686
3 ABCB4 NM_018849.3(ABCB4): c.2169dup (p.Leu724fs) duplication Pathogenic rs387906529 7:87053264-87053264 7:87423948-87423948
4 ABCB4 NM_018849.3(ABCB4): c.1207T> C (p.Tyr403His) single nucleotide variant Pathogenic rs121918443 7:87073002-87073002 7:87443686-87443686
5 ABCB4 NM_018849.3(ABCB4): c.3136C> T (p.Arg1046Ter) single nucleotide variant Pathogenic 7:87037496-87037496 7:87408180-87408180
6 ABCB4 NM_018849.3(ABCB4): c.3077del (p.Lys1026fs) deletion Pathogenic 7:87038556-87038556 7:87409241-87409241
7 ABCB4 NM_018849.3(ABCB4): c.2869C> T (p.Arg957Ter) single nucleotide variant Likely pathogenic rs121918440 7:87041264-87041264 7:87411948-87411948
8 ABCB4 NM_018849.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 7:87076396-87076396 7:87447080-87447080
9 ABCB4 NM_018849.3(ABCB4): c.1769G> A (p.Arg590Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45575636 7:87060844-87060844 7:87431528-87431528
10 ABCB4 NM_018849.3(ABCB4): c.2906G> A (p.Arg969His) single nucleotide variant Uncertain significance rs752916287 7:87041227-87041227 7:87411911-87411911
11 ABCB4 NM_018849.3(ABCB4): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs142794414 7:87101971-87101971 7:87472655-87472655
12 ABCB4 NM_018849.3(ABCB4): c.431G> A (p.Arg144Gln) single nucleotide variant Uncertain significance rs863225299 7:87082365-87082365 7:87453049-87453049
13 ABCB4 NM_018849.3(ABCB4): c.217C> G (p.Leu73Val) single nucleotide variant Uncertain significance rs8187788 7:87092143-87092143 7:87462827-87462827
14 ABCB4 NM_018849.3(ABCB4): c.1954A> G (p.Arg652Gly) single nucleotide variant Benign rs2230028 7:87056176-87056176 7:87426860-87426860
15 ABCB4 NM_018849.3(ABCB4): c.1210C> G (p.Pro404Ala) single nucleotide variant no interpretation for the single variant rs863225298 7:87072999-87072999 7:87443683-87443683

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 3:

74 (show all 39)
# Symbol AA change Variation ID SNP ID
1 ABCB4 p.Trp138Arg VAR_043080 rs72552781
2 ABCB4 p.Ser346Ile VAR_043084 rs67876345
3 ABCB4 p.Glu395Gly VAR_043086 rs72552777
4 ABCB4 p.Thr424Ala VAR_043087 rs126356547
5 ABCB4 p.Val425Met VAR_043088
6 ABCB4 p.Gly535Asp VAR_043091
7 ABCB4 p.Ile541Phe VAR_043092 rs66904256
8 ABCB4 p.Leu556Arg VAR_043093
9 ABCB4 p.Asp564Gly VAR_043094
10 ABCB4 p.Phe711Ser VAR_043097 rs72552773
11 ABCB4 p.Gly983Ser VAR_043103 rs56187107
12 ABCB4 p.Gly68Arg VAR_073731 rs134366790
13 ABCB4 p.Gly70Arg VAR_073732
14 ABCB4 p.Leu73Val VAR_073734 rs8187788
15 ABCB4 p.Gly126Glu VAR_073738 rs102198837
16 ABCB4 p.Thr201Met VAR_073740 rs753318087
17 ABCB4 p.Ala250Pro VAR_073741
18 ABCB4 p.Ala286Val VAR_073742 rs765478923
19 ABCB4 p.Phe357Leu VAR_073743
20 ABCB4 p.Ala364Val VAR_073744
21 ABCB4 p.Tyr403His VAR_073745 rs121918443
22 ABCB4 p.Asp459His VAR_073748
23 ABCB4 p.Val475Ala VAR_073749
24 ABCB4 p.Pro479Leu VAR_073750 rs748657435
25 ABCB4 p.Leu481Arg VAR_073751
26 ABCB4 p.Ala511Thr VAR_073753 rs125788715
27 ABCB4 p.Glu558Lys VAR_073757
28 ABCB4 p.Thr593Ala VAR_073759
29 ABCB4 p.Met630Val VAR_073761 rs372476723
30 ABCB4 p.Leu701Pro VAR_073763 rs988987669
31 ABCB4 p.Thr715Ile VAR_073764 rs138773456
32 ABCB4 p.Gly723Glu VAR_073765
33 ABCB4 p.Pro726Thr VAR_073767
34 ABCB4 p.Ala737Val VAR_073769 rs147134978
35 ABCB4 p.Ala840Asp VAR_073770
36 ABCB4 p.Gly954Ser VAR_073771 rs779829759
37 ABCB4 p.Ser978Pro VAR_073774 rs105186118
38 ABCB4 p.Glu1125Lys VAR_073776
39 ABCB4 p.Ala1193Thr VAR_073777

Expression for Cholestasis, Progressive Familial Intrahepatic, 3

Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 3.

Pathways for Cholestasis, Progressive Familial Intrahepatic, 3

Pathways related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 ABCB4 ABCB11
2 11.01 ABCB4 ABCB11
3 10.5 ABCB4 ABCB11
4 9.9 ABCB4 ABCB11

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 3

Cellular components related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 NDUFB3 JAG1 ATP8B1 ATP11C ABCB4 ABCB11
2 integral component of plasma membrane GO:0005887 9.56 JAG1 ATP8B1 ABCB4 ABCB11
3 apical part of cell GO:0045177 9.32 JAG1 ABCB11
4 apical plasma membrane GO:0016324 9.13 JAG1 ATP8B1 ABCB4
5 intercellular canaliculus GO:0046581 8.62 ABCB4 ABCB11

Biological processes related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid transport GO:0015914 9.32 ATP8B1 ATP11C
2 bile acid and bile salt transport GO:0015721 9.26 ATP8B1 ABCB11
3 lipid transport GO:0006869 9.13 ATP8B1 ATP11C ABCB4
4 drug transmembrane transport GO:0006855 8.85 ATP8B1
5 phospholipid translocation GO:0045332 8.8 ATP8B1 ATP11C ABCB4

Molecular functions related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.46 ATP8B1 ATP11C ABCB4 ABCB11
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCB4 ABCB11
3 phospholipid-translocating ATPase activity GO:0004012 8.62 ATP8B1 ATP11C

Sources for Cholestasis, Progressive Familial Intrahepatic, 3

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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