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

PFIC3 MCID: CHL137 MIFTS: 45	Cholestasis, Progressive Familial Intrahepatic, 3 (PFIC3) Categories: Cancer diseases, Endocrine 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 ⁷⁵

Pfic3 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁵ ⁵⁵

Cholestasis, Progressive Familial Intrahepatic 3 ⁵⁷ ⁷⁶ ¹³ ⁴⁴ ⁷³

Progressive Familial Intrahepatic Cholestasis 3 ¹² ²⁹ ⁶ ¹⁵

Mdr3 Deficiency ⁵⁷ ¹² ⁵³ ⁷⁵

Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gamma-Glutamyltransferase ⁵³ ⁷⁵

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:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

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

OMIM ⁵⁷ 602347

Disease Ontology ¹² DOID:0070223

MeSH ⁴⁴ C535935 D002780

Orphanet ⁵⁹ ORPHA79305

MESH via Orphanet ⁴⁵ C535935

UMLS via Orphanet ⁷⁴ C1865643

ICD10 via Orphanet ³⁴ K76.8

MedGen ⁴² C1865643

SNOMED-CT via HPO ⁶⁹ 258211005 18165001 279333002 more

UMLS ⁷³ 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 cholestasis, benign recurrent intrahepatic, 1 and cholestasis, progressive familial 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. The drugs Bile Acids and Salts 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 : ⁷⁵ 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 : ⁷⁶ Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Description from OMIM: 602347

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Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 3

Diseases in the Progressive 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	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 all 21)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, benign recurrent intrahepatic, 1	31.5	ABCB11 ABCG8 ATP11C ATP8B1
2	cholestasis, progressive familial intrahepatic, 1	30.9	ABCB11 ABCB4 ABCG8 ATP11C ATP8B1 JAG1
3	cholelithiasis	30.1	ABCB4 ABCG8
4	progressive familial intrahepatic cholestasis	29.9	ABCB11 ABCB4 ATP8B1
5	cholestasis	29.6	ABCB11 ABCB4 ATP8B1 JAG1
6	gallbladder disease 1	11.1
7	wilson disease	10.3
8	liver cirrhosis	10.3
9	atp8b1 deficiency	10.0	ABCB11 ATP8B1
10	cholestasis, benign recurrent intrahepatic, 2	10.0	ABCB11 ATP8B1
11	sclerosing cholangitis	10.0	ABCB11 ABCB4
12	cholangitis	9.9	ABCB11 ABCB4
13	cholestasis, progressive familial intrahepatic, 4	9.9	ABCB11 ABCB4 ATP8B1
14	cholestasis, progressive familial intrahepatic, 2	9.9	ABCB11 ABCB4 ATP8B1
15	bile duct disease	9.9	ABCB11 ABCB4 ATP8B1
16	biliary tract disease	9.9	ABCB11 ABCB4 ATP8B1
17	biliary atresia	9.9	ATP8B1 JAG1
18	gallbladder disease	9.8	ABCB4 ABCG8
19	liver disease	9.8	ABCB11 ABCB4 ATP8B1
20	alagille syndrome 1	9.7	ABCB11 ABCB4 ATP8B1 JAG1
21	intrahepatic cholestasis of pregnancy	9.6	ABCB11 ABCB4 ATP8B1 JAG1

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

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

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	jaundice ³²	HP:0000952
7	diarrhea ³²	HP:0002014
8	intrahepatic cholestasis ³²	HP:0001406
9	bile duct proliferation ³²	HP:0001408
10	portal fibrosis ³²	HP:0006580
11	elevated hepatic transaminase ³²	HP:0002910

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	homeostasis/metabolism	MP:0005376	9.43	ABCB11 ABCB4 ABCG8 ATP11C ATP8B1 JAG1
2	liver/biliary system	MP:0005370	9.02	ABCB11 ABCB4 ABCG8 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	Bile Acids and Salts		Not Applicable
2	Gastrointestinal Agents		Not Applicable
3	Lecithin		Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Intralumenal Effects on Cholesterol Absorption/Synthesis	Completed	NCT00328211	Not Applicable	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:

#	Title	Authors	Year
1	Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. ( 30036524 )	Khabou B...Fakhfakh F	2018
2	A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter. ( 26796082 )	Wang Z....Ma X.	2016
3	Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. ( 19840255 )	Poupon R....Housset C.	2010

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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	1701.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	8666348 9923886 9419367 (more) 11745043 17726488 20422496 19840255 12671900 12967592 20414253 17241866 16763017 14527955 19133130 10975791 19753442
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	29.64	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	19753442 20414253 17241866
3	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	28.49	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	19753442 20414253 17241866
4	JAG1	Jagged 1	Protein Coding	23.72	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17241866
5	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	15.43	DISEASES inferred ¹⁵
6	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	14.95	DISEASES inferred ¹⁵

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Variations for Cholestasis, Progressive Familial Intrahepatic, 3

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

⁷⁵ (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
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
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
25	ABCB4	p.Leu481Arg	VAR_073751
26	ABCB4	p.Ala511Thr	VAR_073753
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

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

⁶ (show all 46)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCB4	NM_018849.2(ABCB4): c.394_400delTATATAC (p.Tyr132Lysfs)	deletion	Pathogenic	rs387906526	GRCh37	Chromosome 7, 87082396: 87082402
2	ABCB4	NM_018849.2(ABCB4): c.394_400delTATATAC (p.Tyr132Lysfs)	deletion	Pathogenic	rs387906526	GRCh38	Chromosome 7, 87453080: 87453086
3	ABCB4	NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)	single nucleotide variant	Pathogenic	rs121918440	GRCh37	Chromosome 7, 87041264: 87041264
4	ABCB4	NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)	single nucleotide variant	Pathogenic	rs121918440	GRCh38	Chromosome 7, 87411948: 87411948
5	ABCB4	NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)	deletion	Pathogenic	rs387906527	GRCh37	Chromosome 7, 87069002: 87069002
6	ABCB4	NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)	deletion	Pathogenic	rs387906527	GRCh38	Chromosome 7, 87439686: 87439686
7	ABCB4	NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72552778	GRCh37	Chromosome 7, 87076396: 87076396
8	ABCB4	NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72552778	GRCh38	Chromosome 7, 87447080: 87447080
9	ABCB4	NM_018849.2(ABCB4): c.2169dupG (p.Leu724Alafs)	duplication	Pathogenic	rs387906529	GRCh37	Chromosome 7, 87053264: 87053264
10	ABCB4	NM_018849.2(ABCB4): c.2169dupG (p.Leu724Alafs)	duplication	Pathogenic	rs387906529	GRCh38	Chromosome 7, 87423948: 87423948
11	ABCB4	NM_018849.2(ABCB4): c.1207T> C (p.Tyr403His)	single nucleotide variant	Pathogenic	rs121918443	GRCh37	Chromosome 7, 87073002: 87073002
12	ABCB4	NM_018849.2(ABCB4): c.1207T> C (p.Tyr403His)	single nucleotide variant	Pathogenic	rs121918443	GRCh38	Chromosome 7, 87443686: 87443686
13	ABCB4	NM_000443.3(ABCB4): c.1769G> A (p.Arg590Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45575636	GRCh37	Chromosome 7, 87060844: 87060844
14	ABCB4	NM_000443.3(ABCB4): c.1769G> A (p.Arg590Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45575636	GRCh38	Chromosome 7, 87431528: 87431528
15	ABCB4	NM_018849.2(ABCB4): c.2906G> A (p.Arg969His)	single nucleotide variant	Uncertain significance	rs752916287	GRCh37	Chromosome 7, 87041227: 87041227
16	ABCB4	NM_018849.2(ABCB4): c.2906G> A (p.Arg969His)	single nucleotide variant	Uncertain significance	rs752916287	GRCh38	Chromosome 7, 87411911: 87411911
17	ABCB4	NM_018849.2(ABCB4): c.2211+1G> A	single nucleotide variant	Pathogenic	rs794727183	GRCh37	Chromosome 7, 87053221: 87053221
18	ABCB4	NM_018849.2(ABCB4): c.2211+1G> A	single nucleotide variant	Pathogenic	rs794727183	GRCh38	Chromosome 7, 87423905: 87423905
19	ABCB4	NM_018849.2(ABCB4): c.2177C> T (p.Pro726Leu)	single nucleotide variant	Likely pathogenic	rs141677867	GRCh37	Chromosome 7, 87053256: 87053256
20	ABCB4	NM_018849.2(ABCB4): c.2177C> T (p.Pro726Leu)	single nucleotide variant	Likely pathogenic	rs141677867	GRCh38	Chromosome 7, 87423940: 87423940
21	ABCB4	NM_018849.2(ABCB4): c.1210C> G (p.Pro404Ala)	single nucleotide variant	no interpretation for the single variant	rs863225298	GRCh37	Chromosome 7, 87072999: 87072999
22	ABCB4	NM_018849.2(ABCB4): c.1210C> G (p.Pro404Ala)	single nucleotide variant	no interpretation for the single variant	rs863225298	GRCh38	Chromosome 7, 87443683: 87443683
23	ABCB4	NM_018849.2(ABCB4): c.431G> A (p.Arg144Gln)	single nucleotide variant	no interpretation for the single variant	rs863225299	GRCh37	Chromosome 7, 87082365: 87082365
24	ABCB4	NM_018849.2(ABCB4): c.431G> A (p.Arg144Gln)	single nucleotide variant	no interpretation for the single variant	rs863225299	GRCh38	Chromosome 7, 87453049: 87453049
25	ABCB4	NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly)	single nucleotide variant	Benign	rs2230028	GRCh38	Chromosome 7, 87426860: 87426860
26	ABCB4	NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly)	single nucleotide variant	Benign	rs2230028	GRCh37	Chromosome 7, 87056176: 87056176
27	ABCB4	NM_018849.2(ABCB4): c.2833C> T (p.Gln945Ter)	single nucleotide variant	Pathogenic	rs886042562	GRCh37	Chromosome 7, 87041300: 87041300
28	ABCB4	NM_018849.2(ABCB4): c.2833C> T (p.Gln945Ter)	single nucleotide variant	Pathogenic	rs886042562	GRCh38	Chromosome 7, 87411984: 87411984
29	ABCB4	NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter)	single nucleotide variant	Pathogenic	rs748842753	GRCh37	Chromosome 7, 87032476: 87032476
30	ABCB4	NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter)	single nucleotide variant	Pathogenic	rs748842753	GRCh38	Chromosome 7, 87403160: 87403160
31	ABCB4	NM_018849.2(ABCB4): c.2626A> T (p.Lys876Ter)	single nucleotide variant	Pathogenic	rs886043725	GRCh37	Chromosome 7, 87046684: 87046684
32	ABCB4	NM_018849.2(ABCB4): c.2626A> T (p.Lys876Ter)	single nucleotide variant	Pathogenic	rs886043725	GRCh38	Chromosome 7, 87417368: 87417368
33	ABCB4	NM_018849.2(ABCB4): c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer)	indel	Pathogenic	rs886043734	GRCh37	Chromosome 7, 87046684: 87046685
34	ABCB4	NM_018849.2(ABCB4): c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer)	indel	Pathogenic	rs886043734	GRCh38	Chromosome 7, 87417368: 87417369
35	ABCB4	NM_018849.2(ABCB4): c.3081+1G> C	single nucleotide variant	Pathogenic	rs750829010	GRCh38	Chromosome 7, 87409235: 87409235
36	ABCB4	NM_018849.2(ABCB4): c.3081+1G> C	single nucleotide variant	Pathogenic	rs750829010	GRCh37	Chromosome 7, 87038551: 87038551
37	ABCB4	NM_018849.2(ABCB4): c.1144G> T (p.Glu382Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 7, 87443749: 87443749
38	ABCB4	NM_018849.2(ABCB4): c.1144G> T (p.Glu382Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 7, 87073065: 87073065
39	ABCB4	NM_018849.2(ABCB4): c.1006-1G> T	single nucleotide variant	Pathogenic	rs772823352	GRCh38	Chromosome 7, 87444976: 87444976
40	ABCB4	NM_018849.2(ABCB4): c.1006-1G> T	single nucleotide variant	Pathogenic	rs772823352	GRCh37	Chromosome 7, 87074292: 87074292
41	ABCB4	NM_018849.2(ABCB4): c.2446delA (p.Arg816Aspfs)	deletion	Pathogenic		GRCh38	Chromosome 7, 87418569: 87418569
42	ABCB4	NM_018849.2(ABCB4): c.2446delA (p.Arg816Aspfs)	deletion	Pathogenic		GRCh37	Chromosome 7, 87047885: 87047885
43	ABCB4	NM_018849.2(ABCB4): c.100delAinsAA (p.Thr34Asnfs)	indel	Pathogenic		GRCh38	Chromosome 7, 87472656: 87472656
44	ABCB4	NM_018849.2(ABCB4): c.100delAinsAA (p.Thr34Asnfs)	indel	Pathogenic		GRCh37	Chromosome 7, 87101972: 87101972
45	ABCB4	NM_018849.2(ABCB4): c.139C> T (p.Arg47Ter)	single nucleotide variant	Pathogenic	rs376926391	GRCh38	Chromosome 7, 87462905: 87462905
46	ABCB4	NM_018849.2(ABCB4): c.139C> T (p.Arg47Ter)	single nucleotide variant	Pathogenic	rs376926391	GRCh37	Chromosome 7, 87092221: 87092221

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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	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	12.69	ABCB4 ABCG8 ATP11C ATP8B1
2	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.46	ABCB11 ABCB4
3	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁷ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶¹	11.39	ABCB11 ABCG8
4	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	10.7	ABCB11 ABCB4
5	Bile secretion ³⁷	10.65	ABCB11 ABCB4 ABCG8
6	Farnesoid X Receptor Pathway ¹	10.23	ABCB11 ABCB4

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	9.8	ABCB11 ABCB4 ABCG8 ATP11C ATP8B1 JAG1
2	plasma membrane	GO:0005886	9.73	ABCB11 ABCB4 ABCG8 ATP11C ATP8B1 JAG1
3	integral component of plasma membrane	GO:0005887	9.55	ABCB11 ABCB4 ABCG8 ATP8B1 JAG1
4	apical part of cell	GO:0045177	9.37	ABCB11 JAG1
5	intercellular canaliculus	GO:0046581	8.96	ABCB11 ABCB4
6	apical plasma membrane	GO:0016324	8.92	ABCB4 ABCG8 ATP8B1 JAG1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.54	ABCB11 ABCB4 ABCG8
2	phospholipid transport	GO:0015914	9.43	ABCG8 ATP11C ATP8B1
3	phospholipid translocation	GO:0045332	9.33	ABCB4 ATP11C ATP8B1
4	bile acid and bile salt transport	GO:0015721	9.32	ABCB11 ATP8B1
5	drug transmembrane transport	GO:0006855	9.13	ABCB4 ABCG8 ATP8B1
6	lipid transport	GO:0006869	8.92	ABCB4 ABCG8 ATP11C ATP8B1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity	GO:0016887	9.43	ABCB11 ABCB4 ABCG8
2	ATP binding	GO:0005524	9.35	ABCB11 ABCB4 ABCG8 ATP11C ATP8B1
3	phospholipid-translocating ATPase activity	GO:0004012	9.16	ATP11C ATP8B1
4	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	8.8	ABCB11 ABCB4 ABCG8

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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 Progressive 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

ClinVar 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