PFIC3
MCID: CHL137
MIFTS: 52

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 56 73
Pfic3 56 12 52 58 73 54
Cholestasis, Progressive Familial Intrahepatic 3 56 74 13 43 71
Progressive Familial Intrahepatic Cholestasis 3 12 29 6 15
Mdr3 Deficiency 56 12 52 73
Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gamma-Glutamyltransferase 52 73
Progressive Familial Intrahepatic Cholestasis Type 3 52 58
Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase 56
Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gama-Glutamyltransferase 12
Cholestasis, Intrahepatic, Familial, Progressive, Type 3 39

Characteristics:

Orphanet epidemiological data:

58
progressive familial intrahepatic cholestasis type 3
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
cholestasis, progressive familial intrahepatic, 3:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070223
OMIM 56 602347
OMIM Phenotypic Series 56 PS211600
MESH via Orphanet 44 C535935
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 72 C1865643
Orphanet 58 ORPHA79305
MedGen 41 C1865643
UMLS 71 C1865643

Summaries for Cholestasis, Progressive Familial Intrahepatic, 3

NIH Rare Diseases : 52 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 cholangitis and atp8b1 deficiency, 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 Synthesis of bile acids and bile salts and Hepatic ABC Transporters. The drugs Lecithin and Gastrointestinal Agents 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 : 73 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 : 74 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
Myo5b-Related Progressive Familial Intrahepatic Cholestasis

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 cholangitis 30.5 NR1H4 ABCB4 ABCB11
2 atp8b1 deficiency 30.4 NR1H4 ATP8B1 ABCB11
3 cholelithiasis 29.6 NR1H4 ABCG8 ABCG5 ABCB4
4 intrahepatic cholestasis of pregnancy 29.5 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
5 cholestasis, progressive familial intrahepatic, 1 29.3 TJP2 SLC10A2 SLC10A1 NR1H4 JAG1 GGTLC3
6 familial intrahepatic cholestasis 29.3 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
7 cholestasis, intrahepatic, of pregnancy, 1 29.2 SLC10A2 NR1H4 JAG1 ATP8B1 ABCC2 ABCB4
8 progressive familial intrahepatic cholestasis 29.1 TJP2 SLC51A SLC10A2 SLC10A1 NR1H4 ATP8B1
9 biliary atresia 29.0 SLC10A2 SLC10A1 NR1H4 JAG1 ATP8B1 ABCB4
10 cholestasis, benign recurrent intrahepatic, 1 28.0 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
11 cholestasis 26.9 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
12 gallbladder disease 1 11.2
13 autosomal recessive disease 10.3
14 wilson disease 10.3
15 cholestasis, intrahepatic, of pregnancy 3 10.2 ABCB4 ABCB11
16 functional diarrhea 10.2 SLC10A2 NR1H4
17 caroli disease 10.2 ATP8B1 ABCB4
18 portal hypertension 10.1
19 hepatocellular carcinoma 10.1
20 cholecystitis 10.1
21 liver cirrhosis 10.1
22 splenomegaly 10.1
23 posttransplant acute limbic encephalitis 10.1
24 perforation of bile duct 10.1 GGTLC3 ATP8B1
25 suppurative cholangitis 10.1 GGTLC3 ABCB4
26 sitosterolemia 2 10.1 ABCG8 ABCG5
27 sitosterolemia 1 10.1 ABCG8 ABCG5
28 common bile duct disease 10.1 GGTLC3 ABCB4
29 arcus corneae 10.0 ABCG8 ABCG5
30 dubin-johnson syndrome 10.0 ATP8B1 ABCC2 ABCB11
31 urea cycle disorder 10.0 ATP8B1 ABCB11
32 homozygous familial hypercholesterolemia 10.0 ABCG8 ABCG5
33 bile duct cysts 10.0 GGTLC3 ATP8B1 ABCB4
34 alagille syndrome 1 10.0 JAG1 ATP8B1 ABCB4 ABCB11
35 choledocholithiasis 10.0 GGTLC3 ABCB4
36 hypercholesterolemia, familial, 1 9.9 NR1H4 ABCG8 ABCG5
37 hypolipoproteinemia 9.9 ABCG8 ABCG5
38 citrullinemia, classic 9.9 ATP8B1 ABCB11
39 sclerosing cholangitis 9.8 NR1H4 ABCC2 ABCB4 ABCB11
40 autosomal dominant non-syndromic intellectual disability 3 9.7 SLC51A ABCB4 ABCB11
41 sitosterolemia 9.6 ATP8B1 ABCG8 ABCG5 ABCB4 ABCB11
42 cholestasis, progressive familial intrahepatic, 5 9.6 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
43 bile acid synthesis defect, congenital, 2 9.6 SLC51B SLC10A1 NR1H4 ABCB11
44 primary biliary cirrhosis 9.5 SLC10A1 NR1H4 ABCC2 ABCB4 ABCB11
45 bilirubin metabolic disorder 9.5 GGTLC3 ATP8B1 ABCC2 ABCB4 ABCB11
46 pericholangitis 9.3 SLC51A SLC10A2 SLC10A1 ABCB4 ABCB11
47 gallbladder disease 9.2 NR1H4 GGTLC3 ABCG8 ABCG5 ABCB4 ABCB11
48 cholestasis, progressive familial intrahepatic, 4 9.1 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
49 liver disease 9.0 TJP2 SLC10A1 NR1H4 ATP8B1 ABCC2 ABCB4
50 heart defects, congenital, and other congenital anomalies 8.7 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 malabsorption 31 HP:0002024
4 pruritus 31 HP:0000989
5 cirrhosis 31 HP:0001394
6 elevated hepatic transaminase 31 HP:0002910
7 jaundice 31 HP:0000952
8 diarrhea 31 HP:0002014
9 intrahepatic cholestasis 31 HP:0001406
10 portal fibrosis 31 HP:0006580
11 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 ABCB11 ABCB4 ABCG5 ATP8B1 JAG1 NR1H4
2 digestive/alimentary MP:0005381 9.8 ABCB4 ABCG5 ABCG8 JAG1 NR1H4 SLC10A2
3 homeostasis/metabolism MP:0005376 9.7 ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP8B1
4 liver/biliary system MP:0005370 9.28 ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP8B1

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 Lecithin
2 Gastrointestinal Agents
3 Bile Acids and Salts

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:

40
Liver, Spleen, Testes

Publications for Cholestasis, Progressive Familial Intrahepatic, 3

Articles related to Cholestasis, Progressive Familial Intrahepatic, 3:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. 6 56
9923886 1999
2
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. 56 6
9419367 1998
3
Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. 6 56
8666348 1996
4
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). 54 61 56
17726488 2007
5
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. 54 61
20414253 2010
6
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 54 61
20422496 2010
7
Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. 54 61
19840255 2010
8
[Genetic cholestasis]. 61 54
19753442 2009
9
Progressive familial intrahepatic cholestasis. 61 54
19133130 2009
10
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. 61 54
17241866 2007
11
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). 61 54
16763017 2006
12
Effect of mdr2 mutation with combined tandem disruption of canalicular glycoprotein transporters by cyclosporine A on bile formation in mice. 61 54
12967592 2003
13
Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. 54 61
11745043 2001
14
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. 61
32229667 2020
15
Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report. 61
32321542 2020
16
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. 61
31728073 2020
17
Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model. 61
31836711 2019
18
Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy. 61
31099022 2019
19
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity. 61
31568708 2019
20
Familial intrahepatic cholestasis: New and wide perspectives. 61
31105019 2019
21
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 61
30935993 2019
22
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 61
31083246 2019
23
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 61
31040306 2019
24
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 61
30416103 2019
25
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. 61
30036524 2018
26
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. 61
30357767 2018
27
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. 61
30367658 2018
28
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. 61
30250015 2018
29
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. 61
29761167 2018
30
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). 61
28012258 2017
31
Current and future therapies for inherited cholestatic liver diseases. 61
28223721 2017
32
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis. 61
30755924 2017
33
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. 61
27788395 2016
34
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. 61
27075526 2016
35
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. 61
27256251 2016
36
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. 61
26324191 2016
37
Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. 61
31196404 2016
38
 Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. 61
26845599 2016
39
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. 61
26473142 2015
40
Elevated copper impairs hepatic nuclear receptor function in Wilson's disease. 61
26241054 2015
41
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. 61
25593501 2015
42
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. 61
24594635 2015
43
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane. 61
25315773 2014
44
Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis. 61
25068656 2014
45
ABCB4: Insights from pathobiology into therapy. 61
24953525 2014
46
Progressive familial intrahepatic cholestasis. 61
25755532 2014
47
Progressive familial intrahepatic cholestasis. 61
23141890 2012
48
Hepatobiliary transport in health and disease. 61
22859919 2012
49
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. 61
21989363 2012
50
Canalicular ABC transporters and liver disease. 61
21984474 2012

Variations for Cholestasis, Progressive Familial Intrahepatic, 3

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

6 (show top 50) (show all 74) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB4 NM_000443.4(ABCB4):c.3077del (p.Lys1026fs)deletion Pathogenic 635317 7:87038556-87038556 7:87409240-87409240
2 ABCB4 NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)SNV Pathogenic 587488 rs759202962 7:87037496-87037496 7:87408180-87408180
3 ABCB4 NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)deletion Pathogenic 13686 rs387906526 7:87082396-87082402 7:87453080-87453086
4 ABCB4 NM_000443.4(ABCB4):c.1712del (p.Val571fs)deletion Pathogenic 13688 rs387906527 7:87069002-87069002 7:87439686-87439686
5 ABCB4 NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)duplication Pathogenic 13694 rs387906529 7:87053263-87053264 7:87423947-87423948
6 ABCB4 NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)SNV Pathogenic 13695 rs121918443 7:87073002-87073002 7:87443686-87443686
7 ABCB4 NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)SNV Likely pathogenic 242455 rs863225298 7:87072999-87072999 7:87443683-87443683
8 ABCB4 NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)SNV Likely pathogenic 13687 rs121918440 7:87041264-87041264 7:87411948-87411948
9 ABCB4 NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)SNV Conflicting interpretations of pathogenicity 13690 rs72552778 7:87076396-87076396 7:87447080-87447080
10 ABCB4 NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)SNV Conflicting interpretations of pathogenicity 594313 rs45476795 7:87056178-87056178 7:87426862-87426862
11 ABCB4 NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)SNV Conflicting interpretations of pathogenicity 196273 rs142794414 7:87101971-87101971 7:87472655-87472655
12 ABCB4 NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)SNV Conflicting interpretations of pathogenicity 13697 rs45575636 7:87060844-87060844 7:87431528-87431528
13 ABCB4 NM_000443.4(ABCB4):c.1893+6T>CSNV Conflicting interpretations of pathogenicity 256159 rs8187798 7:87060714-87060714 7:87431398-87431398
14 ABCB4 NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)SNV Conflicting interpretations of pathogenicity 598178 rs371394487 7:87035688-87035688 7:87406372-87406372
15 ABCB4 NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)SNV Conflicting interpretations of pathogenicity 281139 rs61730509 7:87041333-87041333 7:87412017-87412017
16 ABCB4 NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)SNV Conflicting interpretations of pathogenicity 282951 rs2230029 7:87038596-87038596 7:87409280-87409280
17 ABCB4 NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=)SNV Conflicting interpretations of pathogenicity 360790 rs886062459 7:87035718-87035718 7:87406402-87406402
18 ABCB4 NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)SNV Conflicting interpretations of pathogenicity 360791 rs561612231 7:87035805-87035805 7:87406489-87406489
19 ABCB4 NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=)SNV Conflicting interpretations of pathogenicity 383483 rs140592811 7:87032541-87032541 7:87403225-87403225
20 ABCB4 NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)SNV Conflicting interpretations of pathogenicity 381720 rs138773456 7:87053289-87053289 7:87423973-87423973
21 ABCB4 NM_000443.4(ABCB4):c.2055C>T (p.Thr685=)SNV Uncertain significance 360795 rs747255117 7:87056075-87056075 7:87426759-87426759
22 ABCB4 NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)SNV Uncertain significance 360796 rs776616540 7:87056083-87056083 7:87426767-87426767
23 ABCB4 NM_000443.4(ABCB4):c.2535T>C (p.Gly845=)SNV Uncertain significance 360793 rs545534537 7:87046775-87046775 7:87417459-87417459
24 ABCB4 NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu)SNV Uncertain significance 360800 rs886062460 7:87060755-87060755 7:87431439-87431439
25 ABCB4 NM_000443.4(ABCB4):c.-18G>TSNV Uncertain significance 360805 rs886062461 7:87104961-87104961 7:87475645-87475645
26 ABCB4 NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)SNV Uncertain significance 374521 rs8187788 7:87092143-87092143 7:87462827-87462827
27 ABCB4 NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)SNV Uncertain significance 360794 rs373122168 7:87053296-87053296 7:87423980-87423980
28 ABCB4 NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln)SNV Uncertain significance 360801 rs144398632 7:87060829-87060829 7:87431513-87431513
29 ABCB4 NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=)SNV Uncertain significance 360792 rs376825608 7:87037401-87037401 7:87408085-87408085
30 ABCB4 NM_000443.4(ABCB4):c.1982G>A (p.Arg661His)SNV Uncertain significance 360797 rs532332220 7:87056148-87056148 7:87426832-87426832
31 ABCB4 NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val)SNV Uncertain significance 360798 rs367709575 7:87056160-87056160 7:87426844-87426844
32 ABCB4 NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)SNV Uncertain significance 360802 rs199504845 7:87076428-87076428 7:87447112-87447112
33 ABCB4 NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)SNV Uncertain significance 191220 rs752916287 7:87041227-87041227 7:87411911-87411911
34 ABCB4 NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)SNV Uncertain significance 242454 rs863225299 7:87082365-87082365 7:87453049-87453049
35 ABCB4 NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)SNV Uncertain significance 596999 rs1562976223 7:87069606-87069606 7:87440290-87440290
36 ABCB4 NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)SNV Uncertain significance 598093 rs139042803 7:87035794-87035794 7:87406478-87406478
37 ABCB4 NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met)SNV Uncertain significance 593434 rs145056464 7:87035614-87035614 7:87406298-87406298
38 ABCB4 NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His)SNV Uncertain significance 911978 7:87031557-87031557 7:87402241-87402241
39 ABCB4 NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)SNV Uncertain significance 911979 7:87032496-87032496 7:87403180-87403180
40 ABCB4 NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val)SNV Uncertain significance 909050 7:87032531-87032531 7:87403215-87403215
41 ABCB4 NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)SNV Uncertain significance 909051 7:87032580-87032580 7:87403264-87403264
42 ABCB4 NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp)SNV Uncertain significance 909052 7:87035681-87035681 7:87406365-87406365
43 ABCB4 NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg)SNV Uncertain significance 909912 7:87035782-87035782 7:87406466-87406466
44 ABCB4 NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)SNV Uncertain significance 910814 7:87037488-87037488 7:87408172-87408172
45 ABCB4 NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)SNV Uncertain significance 912034 7:87046719-87046719 7:87417403-87417403
46 ABCB4 NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe)SNV Uncertain significance 909117 7:87046720-87046720 7:87417404-87417404
47 ABCB4 NM_000443.4(ABCB4):c.2340C>A (p.Gly780=)SNV Uncertain significance 909119 7:87049368-87049368 7:87420052-87420052
48 ABCB4 NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)SNV Uncertain significance 909966 7:87051511-87051511 7:87422195-87422195
49 ABCB4 NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)SNV Uncertain significance 910029 7:87072710-87072710 7:87443394-87443394
50 ABCB4 NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val)SNV Uncertain significance 910030 7:87072714-87072714 7:87443398-87443398

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

73 (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

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 membrane GO:0016020 10.21 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 JAG1
2 integral component of membrane GO:0016021 10.11 SLC51B SLC51A SLC10A2 SLC10A1 JAG1 ATP8B1
3 plasma membrane GO:0005886 10.03 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 JAG1
4 receptor complex GO:0043235 9.65 NR1H4 ABCG8 ABCG5
5 basolateral plasma membrane GO:0016323 9.63 SLC51B SLC51A SLC10A1
6 integral component of plasma membrane GO:0005887 9.61 SLC10A2 SLC10A1 JAG1 ATP8B1 ABCG8 ABCG5
7 apical part of cell GO:0045177 9.58 JAG1 ABCG5 ABCB11
8 intercellular canaliculus GO:0046581 9.33 ABCC2 ABCB4 ABCB11
9 ATP-binding cassette (ABC) transporter complex GO:0043190 9.32 ABCG8 ABCG5
10 apical plasma membrane GO:0016324 9.17 SLC10A2 JAG1 ATP8B1 ABCG8 ABCG5 ABCC2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.67 NR1H4 ABCG8 ABCG5
2 lipid transport GO:0006869 9.67 ATP8B1 ABCG8 ABCG5 ABCB4
3 transmembrane transport GO:0055085 9.61 SLC51B SLC51A SLC10A2 SLC10A1 ABCG8 ABCG5
4 excretion GO:0007588 9.56 ABCG8 ABCG5
5 phospholipid translocation GO:0045332 9.55 ATP8B1 ABCB4
6 cholesterol efflux GO:0033344 9.54 ABCG8 ABCG5
7 sterol transport GO:0015918 9.52 ABCG8 ABCG5
8 bile acid metabolic process GO:0008206 9.51 NR1H4 ATP8B1
9 intestinal cholesterol absorption GO:0030299 9.48 ABCG8 ABCG5
10 organic substance transport GO:0071702 9.46 SLC51B SLC51A
11 cellular response to bile acid GO:1903413 9.43 NR1H4 ABCB4
12 canalicular bile acid transport GO:0015722 9.4 ABCC2 ABCB11
13 bile acid secretion GO:0032782 9.33 SLC51B SLC51A ABCB4
14 negative regulation of intestinal cholesterol absorption GO:0045796 9.32 ABCG8 ABCG5
15 negative regulation of intestinal phytosterol absorption GO:0010949 9.26 ABCG8 ABCG5
16 bile acid and bile salt transport GO:0015721 9.23 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 ATP8B1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.95 ATP8B1 ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
2 ATP binding GO:0005524 9.91 ATP8B1 ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
3 protein heterodimerization activity GO:0046982 9.67 SLC51B SLC51A ABCG8 ABCG5
4 transmembrane transporter activity GO:0022857 9.63 SLC51B SLC51A ABCC2
5 ATPase activity GO:0016887 9.55 ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
6 transporter activity GO:0005215 9.43 SLC51B SLC51A ABCB11
7 intermembrane cholesterol transfer activity GO:0120020 9.4 ABCG8 ABCG5
8 bile acid:sodium symporter activity GO:0008508 9.32 SLC10A2 SLC10A1
9 bile acid transmembrane transporter activity GO:0015125 9.13 SLC51B SLC51A SLC10A1
10 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCG8 ABCG5 ABCC2 ABCB4 ABCB11

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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