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

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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 ⁵⁸ ⁷⁶

Pfic3 ⁵⁸ ¹² ⁵⁴ ⁶⁰ ⁷⁶ ⁵⁶

Cholestasis, Progressive Familial Intrahepatic 3 ⁵⁸ ⁷⁷ ¹³ ⁴⁵ ⁷⁴

Progressive Familial Intrahepatic Cholestasis 3 ¹² ³⁰ ⁶ ¹⁵

Mdr3 Deficiency ⁵⁸ ¹² ⁵⁴ ⁷⁶

Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gamma-Glutamyltransferase ⁵⁴ ⁷⁶

Progressive Familial Intrahepatic Cholestasis Type 3 ⁵⁴ ⁶⁰

Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase ⁵⁸

Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gama-Glutamyltransferase ¹²

Cholestasis, Intrahepatic, Familial, Progressive, Type 3 ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

Orphanet: ⁶⁰

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0070223

OMIM ⁵⁸ 602347

MeSH ⁴⁵ C535935 D002780

MESH via Orphanet ⁴⁶ C535935

ICD10 via Orphanet ³⁵ K76.8

UMLS via Orphanet ⁷⁵ C1865643

Orphanet ⁶⁰ ORPHA79305

MedGen ⁴³ C1865643

SNOMED-CT via HPO ⁷⁰ 16294009 166603001 166643006 more

UMLS ⁷⁴ C1865643

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Summaries for Cholestasis, Progressive Familial Intrahepatic, 3

NIH Rare Diseases : ⁵⁴ 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 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 : ⁷⁶ 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 : ⁷⁷ 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 20)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, benign recurrent intrahepatic, 1	31.8	ABCB11 ATP11C ATP8B1
2	cholestasis, progressive familial intrahepatic, 1	31.0	ABCB11 ABCB4 ATP11C ATP8B1 JAG1
3	progressive familial intrahepatic cholestasis	29.9	ABCB11 ABCB4 ATP8B1
4	biliary atresia	29.7	ATP8B1 JAG1
5	cholestasis	29.4	ABCB11 ABCB4 ATP8B1 JAG1
6	gallbladder disease 1	11.1
7	wilson disease	10.3
8	liver cirrhosis	10.3
9	cholelithiasis	10.1
10	atp8b1 deficiency	10.0	ABCB11 ATP8B1
11	cholestasis, benign recurrent intrahepatic, 2	10.0	ABCB11 ATP8B1
12	sclerosing cholangitis	9.9	ABCB11 ABCB4
13	cholangitis	9.9	ABCB11 ABCB4
14	cholestasis, progressive familial intrahepatic, 4	9.8	ABCB11 ABCB4 ATP8B1
15	cholestasis, progressive familial intrahepatic, 2	9.8	ABCB11 ABCB4 ATP8B1
16	bile duct disease	9.8	ABCB11 ABCB4 ATP8B1
17	biliary tract disease	9.8	ABCB11 ABCB4 ATP8B1
18	liver disease	9.7	ABCB11 ABCB4 ATP8B1
19	alagille syndrome 1	9.5	ABCB11 ABCB4 ATP8B1 JAG1
20	intrahepatic cholestasis of pregnancy	9.4	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

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

³³ (show all 11)

#	Description	HPO Source Accession
1	splenomegaly ³³	HP:0001744
2	hepatomegaly ³³	HP:0002240
3	malabsorption ³³	HP:0002024
4	pruritus ³³	HP:0000989
5	elevated hepatic transaminase ³³	HP:0002910
6	cirrhosis ³³	HP:0001394
7	jaundice ³³	HP:0000952
8	diarrhea ³³	HP:0002014
9	intrahepatic cholestasis ³³	HP:0001406
10	portal fibrosis ³³	HP:0006580
11	bile duct proliferation ³³	HP:0001408

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

²⁷

#	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:

⁴⁷

#	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		Not Applicable
2	Bile Acids and Salts		Not Applicable
3	Lecithin		Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Second-line Therapy of Unresectable Cholangiocarcinoma by RADIOEMBOLIZATION	Terminated	NCT01383746	Phase 1, Phase 2
2	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 ³⁰	ABCB4

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Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 3

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

⁴²

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	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. ( 27788395 )	Khabou B...Fakhfakh F	2016
4	Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. ( 19840255 )	Poupon R...Housset C	2010
5	Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). ( 17726488 )	Degiorgio D...Coviello DA	2007
6	Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. ( 9923886 )	Jacquemin E...Hadchouel M	1999
7	Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. ( 9419367 )	de Vree JM...Hadchouel M	1998
8	Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. ( 8666348 )	Deleuze JF...Hadchouel M	1996

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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	1701.14	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	29.69	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	19753442 20414253 17241866
3	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	28.46	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	19753442 20414253 17241866
4	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	23.64	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	17241866
5	NDUFB3	NADH:Ubiquinone Oxidoreductase Subunit B3	Protein Coding	15.82	DISEASES inferred ¹⁵
6	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	15.35	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:

⁷⁶ (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

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

⁶ (show all 34)

#	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.101C> T (p.Thr34Met)	single nucleotide variant	Uncertain significance	rs142794414	GRCh37	Chromosome 7, 87101971: 87101971
18	ABCB4	NM_018849.2(ABCB4): c.101C> T (p.Thr34Met)	single nucleotide variant	Uncertain significance	rs142794414	GRCh38	Chromosome 7, 87472655: 87472655
19	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
20	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
21	ABCB4	NM_018849.2(ABCB4): c.431G> A (p.Arg144Gln)	single nucleotide variant	Uncertain significance	rs863225299	GRCh37	Chromosome 7, 87082365: 87082365
22	ABCB4	NM_018849.2(ABCB4): c.431G> A (p.Arg144Gln)	single nucleotide variant	Uncertain significance	rs863225299	GRCh38	Chromosome 7, 87453049: 87453049
23	ABCB4	NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly)	single nucleotide variant	Benign	rs2230028	GRCh38	Chromosome 7, 87426860: 87426860
24	ABCB4	NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly)	single nucleotide variant	Benign	rs2230028	GRCh37	Chromosome 7, 87056176: 87056176
25	ABCB4	NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter)	single nucleotide variant	Pathogenic	rs748842753	GRCh37	Chromosome 7, 87032476: 87032476
26	ABCB4	NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter)	single nucleotide variant	Pathogenic	rs748842753	GRCh38	Chromosome 7, 87403160: 87403160
27	ABCB4	NM_018849.2(ABCB4): c.217C> G (p.Leu73Val)	single nucleotide variant	Uncertain significance	rs8187788	GRCh37	Chromosome 7, 87092143: 87092143
28	ABCB4	NM_018849.2(ABCB4): c.217C> G (p.Leu73Val)	single nucleotide variant	Uncertain significance	rs8187788	GRCh38	Chromosome 7, 87462827: 87462827
29	ABCB4	NM_018849.2(ABCB4): c.3081+1G> C	single nucleotide variant	Pathogenic	rs750829010	GRCh37	Chromosome 7, 87038551: 87038551
30	ABCB4	NM_018849.2(ABCB4): c.3081+1G> C	single nucleotide variant	Pathogenic	rs750829010	GRCh38	Chromosome 7, 87409235: 87409235
31	ABCB4	NM_018849.2(ABCB4): c.1006-1G> T	single nucleotide variant	Pathogenic	rs772823352	GRCh37	Chromosome 7, 87074292: 87074292
32	ABCB4	NM_018849.2(ABCB4): c.1006-1G> T	single nucleotide variant	Pathogenic	rs772823352	GRCh38	Chromosome 7, 87444976: 87444976
33	ABCB4	NM_018849.2(ABCB4): c.3136C> T (p.Arg1046Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 7, 87037496: 87037496
34	ABCB4	NM_018849.2(ABCB4): c.3136C> T (p.Arg1046Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 7, 87408180: 87408180

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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	Hepatic ABC Transporters ⁶⁵ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁵	11.35	ABCB11 ABCB4
2	Bile secretion ³⁸	11.01	ABCB11 ABCB4
3	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	10.5	ABCB11 ABCB4
4	Farnesoid X Receptor Pathway ¹	9.9	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	9.63	ABCB11 ABCB4 ATP11C ATP8B1 JAG1 NDUFB3
2	integral component of plasma membrane	GO:0005887	9.56	ABCB11 ABCB4 ATP8B1 JAG1
3	apical part of cell	GO:0045177	9.32	ABCB11 JAG1
4	apical plasma membrane	GO:0016324	9.13	ABCB4 ATP8B1 JAG1
5	intercellular canaliculus	GO:0046581	8.62	ABCB11 ABCB4

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	ATP11C ATP8B1
2	bile acid and bile salt transport	GO:0015721	9.26	ABCB11 ATP8B1
3	lipid transport	GO:0006869	9.13	ABCB4 ATP11C ATP8B1
4	drug transmembrane transport	GO:0006855	8.85	ATP8B1
5	phospholipid translocation	GO:0045332	8.8	ABCB4 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	ATP binding	GO:0005524	9.46	ABCB11 ABCB4 ATP11C ATP8B1
2	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	8.96	ABCB11 ABCB4
3	phospholipid-translocating ATPase activity	GO:0004012	8.62	ATP11C ATP8B1

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

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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

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

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

Publications for Cholestasis, Progressive Familial Intrahepatic, 3

Articles related to Cholestasis, Progressive Familial Intrahepatic, 3:

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