Cholestasis, Progressive Familial Intrahepatic, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PFIC3 MCID: CHL137 MIFTS: 47	Cholestasis, Progressive Familial Intrahepatic, 3 (PFIC3) Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Cancer diseases
Anatomical: Liver diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

Orphanet: ⁵⁹

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0070223

OMIM ⁵⁷ 602347 PS211600

MeSH ⁴⁴ C535935 D002780

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

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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

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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:

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Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 3

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

³² (show all 11)

#	Description	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

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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

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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

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Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 3

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

⁴¹

Liver, Spleen, Testes

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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	Jacquemin E...Hadchouel M	9923886	1999
2	Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. ⁸ ⁷¹	de Vree JM...Hadchouel M	9419367	1998
3	Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. ⁸ ⁷¹	Deleuze JF...Hadchouel M	8666348	1996
4	Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). ⁹ ³⁸ ⁸	Degiorgio D...Coviello DA	17726488	2007
5	DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. ⁹ ³⁸	Shapiro R...Bercovich D	20414253	2010
6	The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. ⁹ ³⁸	Davit-Spraul A...Jacquemin E	20422496	2010
7	Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. ⁹ ³⁸	Poupon R...Housset C	19840255	2010
8	[Genetic cholestasis]. ⁹ ³⁸	Ciocca M...Alvarez F	19753442	2009
9	Progressive familial intrahepatic cholestasis. ⁹ ³⁸	Davit-Spraul A...Jacquemin E	19133130	2009
10	Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. ⁹ ³⁸	Liu C...Bezerra JA	17241866	2007
11	Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). ⁹ ³⁸	Lang T...Kerb R	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	Elamiri A...Yousef IM	12967592	2003
13	Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. ⁹ ³⁸	Jacquemin E	11745043	2001
14	Familial intrahepatic cholestasis: New and wide perspectives. ³⁸	Vitale G...Andreone P	31105019	2019
15	Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. ³⁸	Aronson SJ...Bosma PJ	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	Siew SM...Alexander IE	31099022	2019
17	Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. ³⁸	Zhang BP...Dong C	31083246	2019
18	Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. ³⁸	Vauthier V...Falguieres T	31040306	2019
19	Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. ³⁸	Wang R...Ling V	30416103	2019
20	Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. ³⁸	Khabou B...Fakhfakh F	30036524	2018
21	ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. ³⁸	Reichert MC...Lammert F	30357767	2018
22	Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. ³⁸	Chen HL...Chang MH	30367658	2018
23	Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. ³⁸	Liu Y...Zeng ZG	30250015	2018
24	Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. ³⁸	Schatz SB...Baumann U	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	Delaunay JL...Ait-Slimane T	28012258	2017
26	Current and future therapies for inherited cholestatic liver diseases. ³⁸	van der Woerd WL...van de Graaf SF	28223721	2017
27	A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis. ³⁸	Oliveira HM...Pessegueiro-Miranda H	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	Khabou B...Fakhfakh F	27788395	2016
29	Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. ³⁸	Fathy M...Hassan N	27075526	2016
30	Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. ³⁸	Park HJ...Choi JH	27256251	2016
31	Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. ³⁸	El-Guindi MA...Elsheikh NM	31196404	2016
32	Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. ³⁸	El-Guindi MA...Elsheikh NM	26845599	2016
33	ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. ³⁸	Degiorgio D...Battezzati PM	26324191	2016
34	Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. ³⁸	Boga S...Schilsky ML	26473142	2015
35	Elevated copper impairs hepatic nuclear receptor function in Wilson's disease. ³⁸	Wooton-Kee CR...Moore DD	26241054	2015
36	Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. ³⁸	Sun HZ...Shen XZ	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	Gordo-Gilart R...Alvarez L	24594635	2015
38	Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane. ³⁸	Takatsu H...Shin HW	25315773	2014
39	Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis. ³⁸	Kunne C...Paulusma CC	25068656	2014
40	ABCB4: Insights from pathobiology into therapy. ³⁸	Falguieres T...Maurice M	24953525	2014
41	Progressive familial intrahepatic cholestasis. ³⁸	Srivastava A	25755532	2014
42	Progressive familial intrahepatic cholestasis. ³⁸	Jacquemin E	23141890	2012
43	Hepatobiliary transport in health and disease. ³⁸	Chan J...Vandeberg JL	22859919	2012
44	First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. ³⁸	Pasmant E...Parfait B	21989363	2012
45	Canalicular ABC transporters and liver disease. ³⁸	Nicolaou M...Linton KJ	21984474	2012
46	Liver disease associated with canalicular transport defects: current and future therapies. ³⁸	Stapelbroek JM...Houwen RH	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	Delaunay JL...Maurice M	19185004	2009
48	Liver diseases related to MDR3 (ABCB4) gene deficiency. ³⁸	Gonzales E...Jacquemin E	19273348	2009
49	Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus. ³⁸	Lemoine M...Ganne-Carrie N	19030215	2008
50	Dietary lecithin protects against cholestatic liver disease in cholic acid-fed Abcb4- deficient mice. ³⁸	Lamireau T...Tuchweber B	17237720	2007

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Genes for Cholestasis, Progressive Familial Intrahepatic, 3

Genes related to Cholestasis, Progressive Familial Intrahepatic, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	1701.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	9923886 8666348 9419367 (more) 11745043 17726488 20422496 19840255 12671900 12967592 20414253 17241866 16763017 14527955 19133130 10975791 19753442
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	29.71	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	19753442 20414253 17241866
3	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	28.52	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	19753442 20414253 17241866
4	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	23.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17241866
5	NDUFB3	NADH:Ubiquinone Oxidoreductase Subunit B3	Protein Coding	15.81	DISEASES inferred ¹⁵
6	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	15.29	DISEASES inferred ¹⁵

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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

Sources

Expression for Cholestasis, Progressive Familial Intrahepatic, 3

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

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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	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.35	ABCB4 ABCB11
2	Bile secretion ³⁷	11.01	ABCB4 ABCB11
3	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	10.5	ABCB4 ABCB11
4	Farnesoid X Receptor Pathway ¹	9.9	ABCB4 ABCB11

Sources

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

Sources for Cholestasis, Progressive Familial Intrahepatic, 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Cholestasis, Progressive Familial Intrahepatic, 3 (PFIC3)

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 3

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cholestasis, Progressive Familial Intrahepatic, 3

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 3

Diseases in the Familial Intrahepatic Cholestasis family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 3

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

Interventional clinical trials:

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:

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 3

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Genes for Cholestasis, Progressive Familial Intrahepatic, 3

Genes related to Cholestasis, Progressive Familial Intrahepatic, 3 (1 elite genes):

Variations for Cholestasis, Progressive Familial Intrahepatic, 3

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

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

Expression 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:

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 3

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

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

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

Sources for Cholestasis, Progressive Familial Intrahepatic, 3