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PFIC2
MCID: CHL136
MIFTS: 45

Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 2

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MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 2:

Name: Cholestasis, Progressive Familial Intrahepatic, 2 57 75 73
Pfic2 57 12 53 59 75 55
Cholestasis, Progressive Familial Intrahepatic 2 57 76 13 44
Progressive Familial Intrahepatic Cholestasis 2 12 29 6 15
Progressive Familial Intrahepatic Cholestasis Type 2 53 59
Bsep Deficiency 12 59
Cholestasis, Intrahepatic, Familial, Progressive, Type 2 40
Severe Abcb11 Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
progressive familial intrahepatic cholestasis type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
caused by a defect in bile acid transport
genetic heterogeneity, see pfic1


HPO:

32
cholestasis, progressive familial intrahepatic, 2:
Onset and clinical course infantile onset
Mortality/Aging death in childhood
Inheritance 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
Orphanet: 59  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM 57 601847
Disease Ontology 12 DOID:0070222
Orphanet 59 ORPHA79304
UMLS via Orphanet 74 C1866138 C3489789
ICD10 via Orphanet 34 K76.8
MESH via Orphanet 45 C535934
Sources

Summaries for Cholestasis, Progressive Familial Intrahepatic, 2

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NIH Rare Diseases : 53 Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, 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). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 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, 2, also known as pfic2, is related to cholestasis, progressive familial intrahepatic, 1 and progressive familial intrahepatic cholestasis, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Hepatic ABC Transporters and Statin Pathway. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and splenomegaly

Disease Ontology : 12 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

UniProtKB/Swiss-Prot : 75 Cholestasis, progressive familial intrahepatic, 2: 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: 601847
Sources

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 2

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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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 1 30.4 ABCB11 ABCB4 ABCG5 ATP8B1 NR0B2 NR1H4
2 progressive familial intrahepatic cholestasis 30.0 ABCB11 ABCB4 ATP8B1 NR1H4
3 cholestasis 29.7 ABCB11 ABCB4 ATP8B1 NR0B2 NR1H4
4 cholangitis 10.0 ABCB11 ABCB4
5 cholestasis, benign recurrent intrahepatic, 2 10.0 ABCB11 ATP8B1
6 cholestasis, progressive familial intrahepatic, 5 9.9 NR0B2 NR1H4
7 biliary atresia 9.9 ATP8B1 NR1H4
8 cholestasis, progressive familial intrahepatic, 4 9.9 ABCB11 ABCB4 ATP8B1
9 cholestasis, progressive familial intrahepatic, 3 9.9 ABCB11 ABCB4 ATP8B1
10 alagille syndrome 1 9.9 ABCB11 ABCB4 ATP8B1
11 atp8b1 deficiency 9.8 ABCB11 ATP8B1 NR1H4
12 sclerosing cholangitis 9.8 ABCB11 ABCB4 NR1H4
13 primary biliary cirrhosis 9.8 ABCB4 NR1H4
14 gallbladder disease 9.8 ABCB4 ABCG5
15 cholestasis, benign recurrent intrahepatic, 1 9.8 ABCB11 ABCG5 ATP8B1
16 biliary tract disease 9.7 ABCB11 ABCB4 ATP8B1 NR1H4
17 cholelithiasis 9.6 ABCB4 ABCG5 NR1H4
18 liver disease 9.6 ABCB11 ABCB4 ATP8B1 NR1H4
19 bile duct disease 9.5 ABCB11 ABCB4 ATP8B1 NR0B2 NR1H4
20 intrahepatic cholestasis of pregnancy 9.5 ABCB11 ABCB4 ATP8B1 NR0B2 NR1H4

Graphical network of the top 20 diseases related to Cholestasis, Progressive Familial Intrahepatic, 2:



Diseases related to Cholestasis, Progressive Familial Intrahepatic, 2
Sources

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 2

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Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
growth retardation

Abdomen Liver:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
intracanalicular cholestasis shown on biopsy
more
Skin Nails Hair Skin:
pruritus
jaundice

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased serum alkaline phosphatase
normal or mildly increased serum gamma-ggt
increased serum bile acids

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Abdomen Gastrointestinal:
diarrhea
malabsorption of fat and fat-soluble vitamins

Neoplasia:
increased risk of hepatocellular carcinoma


Clinical features from OMIM:

601847

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 short stature 32 HP:0004322
5 pruritus 32 HP:0000989
6 cirrhosis 32 HP:0001394
7 diarrhea 32 HP:0002014
8 intrahepatic cholestasis 32 HP:0001406
9 conjugated hyperbilirubinemia 32 HP:0002908
10 hepatocellular carcinoma 32 HP:0001402
11 elevated alkaline phosphatase 32 HP:0003155
12 fat malabsorption 32 HP:0002630
13 intermittent jaundice 32 HP:0001046

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 2:


pruritus, diarrhea, icterus

GenomeRNAi Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 ABCB4 ABCG5 NR0B2

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 ABCB11 ABCB4 ABCG5 ATP8B1 NR0B2 NR1H4
2 digestive/alimentary MP:0005381 9.56 ABCB4 ABCG5 NR0B2 NR1H4
3 homeostasis/metabolism MP:0005376 9.43 ABCB11 ABCB4 ABCG5 ATP8B1 NR0B2 NR1H4
4 liver/biliary system MP:0005370 9.1 ABCB11 ABCB4 ABCG5 ATP8B1 NR0B2 NR1H4
Sources

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 2

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC 1 or 2 Recruiting NCT03566238 Phase 3 A4250;Placebo
2 Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC Types 1 & 2 Enrolling by invitation NCT03659916 Phase 3 A4250

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic, 2

Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 2

Sources

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 2

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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic, 2:

# Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 2 29 ABCB11
Sources

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 2

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MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 2:

41
Liver, Spleen
Sources

Publications for Cholestasis, Progressive Familial Intrahepatic, 2

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Articles related to Cholestasis, Progressive Familial Intrahepatic, 2:

# Title Authors Year
1
Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis. ( 24214725 )
2014
2
Multiple dysplastic liver nodules in PFIC2 underscore risk for neoplasia associated with functional BSEP deficiency. ( 22472955 )
2012
3
Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. ( 21490445 )
2011
4
Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings. ( 21219577 )
2011
5
PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here? ( 20214736 )
2010
6
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. ( 17947449 )
2008
7
Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. ( 18049162 )
2007
Sources

Variations for Cholestasis, Progressive Familial Intrahepatic, 2

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UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ABCB11 p.Glu297Gly VAR_010271 rs11568372
2 ABCB11 p.Val284Leu VAR_013332
3 ABCB11 p.Lys461Glu VAR_013334
4 ABCB11 p.Asp482Gly VAR_013335 rs72549402
5 ABCB11 p.Gly982Arg VAR_013336 rs72549399
6 ABCB11 p.Gly1004Asp VAR_013337
7 ABCB11 p.Arg1153Cys VAR_013338 rs72549395
8 ABCB11 p.Arg1268Gln VAR_013339 rs72549394
9 ABCB11 p.Gly238Val VAR_030388 rs72551306
10 ABCB11 p.Cys336Ser VAR_030390 rs72551305
11 ABCB11 p.Tyr472Cys VAR_073968 rs369860506
12 ABCB11 p.Asp1131Val VAR_073971

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB11 NM_003742.2(ABCB11): c.1723C> T (p.Arg575Ter) single nucleotide variant Pathogenic rs72549401 GRCh37 Chromosome 2, 169826641: 169826641
2 ABCB11 NM_003742.2(ABCB11): c.1723C> T (p.Arg575Ter) single nucleotide variant Pathogenic rs72549401 GRCh38 Chromosome 2, 168970131: 168970131
3 ABCB11 NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh37 Chromosome 2, 169847329: 169847329
4 ABCB11 NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh38 Chromosome 2, 168990819: 168990819
5 ABCB11 NM_003742.2(ABCB11): c.908delG (p.Arg303Serfs) deletion Pathogenic GRCh38 Chromosome 2, 168990801: 168990801
6 ABCB11 NM_003742.2(ABCB11): c.908delG (p.Arg303Serfs) deletion Pathogenic GRCh37 Chromosome 2, 169847311: 169847311
7 ABCB11 NM_003742.2(ABCB11): c.3767_3768insC (p.Val1257Glyfs) insertion Pathogenic rs387907317 GRCh37 Chromosome 2, 169780331: 169780331
8 ABCB11 NM_003742.2(ABCB11): c.3767_3768insC (p.Val1257Glyfs) insertion Pathogenic rs387907317 GRCh38 Chromosome 2, 168923821: 168923821
9 ABCB11 NM_003742.2(ABCB11): c.150+3A> C single nucleotide variant Pathogenic rs387906354 GRCh37 Chromosome 2, 169870810: 169870810
10 ABCB11 NM_003742.2(ABCB11): c.150+3A> C single nucleotide variant Pathogenic rs387906354 GRCh38 Chromosome 2, 169014300: 169014300
11 ABCB11 NM_003742.2: c.2783_2787dupGAGAT duplication Pathogenic
12 ABCB11 NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter) single nucleotide variant Pathogenic rs72549397 GRCh37 Chromosome 2, 169788931: 169788931
13 ABCB11 NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter) single nucleotide variant Pathogenic rs72549397 GRCh38 Chromosome 2, 168932421: 168932421
14 ATP8B1 NM_005603.5(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh37 Chromosome 18, 55373793: 55373793
15 ATP8B1 NM_005603.5(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh38 Chromosome 18, 57706561: 57706561
16 ABCB11 NM_003742.2(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh37 Chromosome 2, 169825008: 169825008
17 ABCB11 NM_003742.2(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh38 Chromosome 2, 168968498: 168968498
18 ABCB11 NM_003742.2(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh37 Chromosome 2, 169847310: 169847310
19 ABCB11 NM_003742.2(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh38 Chromosome 2, 168990800: 168990800
20 ABCB11 NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh37 Chromosome 2, 169781240: 169781240
21 ABCB11 NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh38 Chromosome 2, 168924730: 168924730
22 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh37 Chromosome 2, 169833124: 169833124
23 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh38 Chromosome 2, 168976614: 168976614
24 ABCB11 NM_003742.2(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh37 Chromosome 2, 169870812: 169870812
25 ABCB11 NM_003742.2(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh38 Chromosome 2, 169014302: 169014302
26 ABCB11 NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh37 Chromosome 2, 169842634: 169842634
27 ABCB11 NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh38 Chromosome 2, 168986124: 168986124
28 ABCB11 NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh37 Chromosome 2, 169828550: 169828550
29 ABCB11 NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh38 Chromosome 2, 168972040: 168972040
30 ABCB11 NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh37 Chromosome 2, 169874614: 169874614
31 ABCB11 NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh38 Chromosome 2, 169018104: 169018104
32 ABCB11 NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh37 Chromosome 2, 169783827: 169783827
33 ABCB11 NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh38 Chromosome 2, 168927317: 168927317
34 ABCB11 NC_000002.11: g.169830232_169830305del56 deletion Pathogenic GRCh37 Chromosome 2, 169830232: 169830305
35 ABCB11 NM_003742.2(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Likely pathogenic rs188824058 GRCh37 Chromosome 2, 169828535: 169828535
36 ABCB11 NM_003742.2(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Likely pathogenic rs188824058 GRCh38 Chromosome 2, 168972025: 168972025
37 ABCB11 NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg) single nucleotide variant Pathogenic rs763782349 GRCh37 Chromosome 2, 169814521: 169814521
38 ABCB11 NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg) single nucleotide variant Pathogenic rs763782349 GRCh38 Chromosome 2, 168958011: 168958011
39 ABCB11 NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh37 Chromosome 2, 169801435: 169801435
40 ABCB11 NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh38 Chromosome 2, 168944925: 168944925
41 ABCB11 NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs774824767 GRCh38 Chromosome 2, 168973741: 168973741
42 ABCB11 NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs774824767 GRCh37 Chromosome 2, 169830251: 169830251
43 ABCB11 NM_003742.3(ABCB11): c.1146_1166del21 (p.Phe383_Ala389del) deletion Uncertain significance GRCh38 Chromosome 2, 168979897: 168979917
44 ABCB11 NM_003742.3(ABCB11): c.1146_1166del21 (p.Phe383_Ala389del) deletion Uncertain significance GRCh37 Chromosome 2, 169836407: 169836427
45 ABCB11 NM_003742.3(ABCB11): c.2782C> T (p.Arg928Ter) single nucleotide variant Pathogenic rs756529333 GRCh38 Chromosome 2, 168936262: 168936262
46 ABCB11 NM_003742.3(ABCB11): c.2782C> T (p.Arg928Ter) single nucleotide variant Pathogenic rs756529333 GRCh37 Chromosome 2, 169792772: 169792772
47 ABCB11 NM_003742.3(ABCB11): c.1631delT (p.Leu544Argfs) deletion Pathogenic GRCh38 Chromosome 2, 168971854: 168971854
48 ABCB11 NM_003742.3(ABCB11): c.1631delT (p.Leu544Argfs) deletion Pathogenic GRCh37 Chromosome 2, 169828364: 169828364
49 ABCB11 NM_003742.3(ABCB11): c.3268C> T (p.Arg1090Ter) single nucleotide variant Pathogenic rs72549396 GRCh38 Chromosome 2, 168930808: 168930808
50 ABCB11 NM_003742.3(ABCB11): c.3268C> T (p.Arg1090Ter) single nucleotide variant Pathogenic rs72549396 GRCh37 Chromosome 2, 169787318: 169787318

Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:

9 (show top 50) (show all 3307)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1626018 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 5
2 COSM1615665 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 5
3 COSM1602238 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 5
4 COSM6951673 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 5
5 COSM1616325 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 5
6 COSM3707827 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 5
7 COSM3707828 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 5
8 COSM1623051 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 5
9 COSM1612127 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 5
10 COSM1618451 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581L 4:145885684-145885684 5
11 COSM1611545 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 5
12 COSM1612685 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47V 19:52002156-52002156 5
13 COSM1612018 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 5
14 COSM1618219 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 5
15 COSM1624399 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 5
16 COSM1609798 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 5
17 COSM1605856 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 5
18 COSM1602404 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 5
19 COSM1607880 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221A 14:67807621-67807621 5
20 COSM3661787 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 5
21 COSM1270878 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 5
22 COSM1612900 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 5
23 COSM3663890 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 5
24 COSM6969923 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 5
25 COSM3717069 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 5
26 COSM6219678 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 5
27 COSM1613453 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 5
28 COSM3717124 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 5
29 COSM1608898 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 5
30 COSM3705381 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 5
31 COSM1601838 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 5
32 COSM1610770 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 5
33 COSM1601260 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 5
34 COSM1624206 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2136A>G p.T712T 8:80518852-80518852 5
35 COSM1624207 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2311A>G p.I771V 8:80519295-80519295 5
36 COSM1616586 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 5
37 COSM1624117 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1568A>G p.N523S 8:63187582-63187582 5
38 COSM1603361 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 5
39 COSM1617254 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167N 3:183722100-183722100 5
40 COSM3663693 XPO7 liver,NS,carcinoma,hepatocellular carcinoma c.806A>G p.Y269C 8:21977812-21977812 5
41 COSM1609152 XPO6 liver,NS,carcinoma,hepatocellular carcinoma c.882C>T p.G294G 16:28156289-28156289 5
42 COSM6957749 XPO1 liver,NS,carcinoma,hepatocellular carcinoma c.301+1G>C p.? 2:61522610-61522610 5
43 COSM1624082 XKR4 liver,NS,carcinoma,hepatocellular carcinoma c.1076A>G p.D359G 8:55523350-55523350 5
44 COSM1613650 XIRP2 liver,NS,carcinoma,hepatocellular carcinoma c.9350G>C p.R3117P 2:167250742-167250742 5
45 COSM3660541 XIRP1 liver,NS,carcinoma,hepatocellular carcinoma c.142C>A p.Q48K 3:39189304-39189304 5
46 COSM1625463 XIAP liver,NS,carcinoma,hepatocellular carcinoma c.493G>T p.A165S 23:123886155-123886155 5
47 COSM3663909 WWP1 liver,NS,carcinoma,hepatocellular carcinoma c.210-2A>G p.? 8:86381503-86381503 5
48 COSM1625309 WWC3 liver,NS,carcinoma,hepatocellular carcinoma c.1121C>A p.S374Y 23:10117180-10117180 5
49 COSM1621161 WTAP liver,NS,carcinoma,hepatocellular carcinoma c.283C>T p.Q95* 6:159748200-159748200 5
50 COSM6909096 WT1 liver,NS,carcinoma,hepatocellular carcinoma c.1019T>G p.L340* 11:32396283-32396283 5
Sources

Expression for Cholestasis, Progressive Familial Intrahepatic, 2

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Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 2.
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Pathways for Cholestasis, Progressive Familial Intrahepatic, 2

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Pathways related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Hepatic ABC Transporters 64
Show member pathways
 11.5 ABCB11 ABCB4
2
Statin Pathway 1
Show member pathways
 11.44 ABCB11 ABCG5
3
Nuclear Receptor transcription pathway 66
Show member pathways
 11.28 NR0B2 NR1H4
4
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11 ABCB11 ABCB4 ABCG5 NR1H4
5
Bile secretion 37
10.87 ABCB11 ABCB4 ABCG5 NR0B2 NR1H4
6
Farnesoid X Receptor Pathway 1
10.54 ABCB11 ABCB4 NR0B2 NR1H4
7
Drug Induction of Bile Acid Pathway 1
10.49 ABCB11 NR1H4
Sources

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 2

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Cellular components related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.46 ABCB11 ABCB4 ABCG5 ATP8B1
2 apical part of cell GO:0045177 9.26 ABCB11 ABCG5
3 apical plasma membrane GO:0016324 9.13 ABCB4 ABCG5 ATP8B1
4 intercellular canaliculus GO:0046581 8.62 ABCB11 ABCB4

Biological processes related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.63 ABCB11 ABCB4 ABCG5
2 Notch signaling pathway GO:0007219 9.48 NR0B2 NR1H4
3 cholesterol homeostasis GO:0042632 9.43 ABCG5 NR1H4
4 steroid hormone mediated signaling pathway GO:0043401 9.4 NR0B2 NR1H4
5 lipid homeostasis GO:0055088 9.37 ABCB4 NR1H4
6 lipid transport GO:0006869 9.33 ABCB4 ABCG5 ATP8B1
7 phospholipid translocation GO:0045332 9.32 ABCB4 ATP8B1
8 bile acid metabolic process GO:0008206 9.26 ATP8B1 NR1H4
9 bile acid and bile salt transport GO:0015721 9.13 ABCB11 ATP8B1 NR1H4
10 drug transmembrane transport GO:0006855 8.8 ABCB4 ABCG5 ATP8B1

Molecular functions related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.62 ABCB11 ABCB4 ABCG5 ATP8B1
2 ATPase activity GO:0016887 9.33 ABCB11 ABCB4 ABCG5
3 steroid hormone receptor activity GO:0003707 9.26 NR0B2 NR1H4
4 retinoid X receptor binding GO:0046965 8.96 NR0B2 NR1H4
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.8 ABCB11 ABCB4 ABCG5
Sources

Sources for Cholestasis, Progressive Familial Intrahepatic, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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