PFIC2
MCID: CHL136
MIFTS: 48

Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 2

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

Name: Cholestasis, Progressive Familial Intrahepatic, 2 58 76 74
Pfic2 58 12 54 60 76 56
Cholestasis, Progressive Familial Intrahepatic 2 58 77 13 45
Progressive Familial Intrahepatic Cholestasis 2 12 30 6 15
Progressive Familial Intrahepatic Cholestasis Type 2 54 60
Bsep Deficiency 12 60
Cholestasis, Intrahepatic, Familial, Progressive, Type 2 41
Severe Abcb11 Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
progressive familial intrahepatic cholestasis type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cholestasis, progressive familial intrahepatic, 2:
Onset and clinical course infantile onset
Clinical modifier death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070222
OMIM 58 601847
MESH via Orphanet 46 C535934
ICD10 via Orphanet 35 K76.8
UMLS via Orphanet 75 C1866138 C3489789
Orphanet 60 ORPHA79304

Summaries for Cholestasis, Progressive Familial Intrahepatic, 2

NIH Rare Diseases : 54 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, benign recurrent intrahepatic, 2 and cholestasis, progressive familial intrahepatic, 1, 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. The drugs Liver Extracts and Pharmaceutical Solutions have been mentioned in the context of this disorder. 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 : 76 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 : 77 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Description from OMIM: 601847

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 2

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 19)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 30.4 ABCB11 ATP8B1
2 cholestasis, progressive familial intrahepatic, 1 30.3 ABCB11 ABCB4 ABCG5 ATP8B1 NR0B2 NR1H4
3 progressive familial intrahepatic cholestasis 29.7 ABCB11 ABCB4 ATP8B1 NR1H4
4 cholestasis 29.0 ABCB11 ABCB4 ATP8B1 NR0B2 NR1H4
5 cholangitis 10.0 ABCB11 ABCB4
6 cholestasis, progressive familial intrahepatic, 4 9.8 ABCB11 ABCB4 ATP8B1
7 cholestasis, progressive familial intrahepatic, 3 9.8 ABCB11 ABCB4 ATP8B1
8 gallbladder disease 9.8 ABCB4 ABCG5
9 alagille syndrome 1 9.8 ABCB11 ABCB4 ATP8B1
10 cholestasis, benign recurrent intrahepatic, 1 9.8 ABCB11 ABCG5 ATP8B1
11 atp8b1 deficiency 9.8 ABCB11 ATP8B1 NR1H4
12 cholestasis, progressive familial intrahepatic, 5 9.7 NR0B2 NR1H4
13 biliary atresia 9.7 ATP8B1 NR1H4
14 sclerosing cholangitis 9.6 ABCB11 ABCB4 NR1H4
15 cholelithiasis 9.6 ABCB4 ABCG5 NR1H4
16 biliary tract disease 9.5 ABCB11 ABCB4 ATP8B1 NR1H4
17 liver disease 9.4 ABCB11 ABCB4 ATP8B1 NR1H4
18 bile duct disease 9.0 ABCB11 ABCB4 ATP8B1 NR0B2 NR1H4
19 intrahepatic cholestasis of pregnancy 9.0 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

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 2

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 splenomegaly 33 HP:0001744
3 hepatomegaly 33 HP:0002240
4 short stature 33 HP:0004322
5 pruritus 33 HP:0000989
6 cirrhosis 33 HP:0001394
7 diarrhea 33 HP:0002014
8 intrahepatic cholestasis 33 HP:0001406
9 conjugated hyperbilirubinemia 33 HP:0002908
10 hepatocellular carcinoma 33 HP:0001402
11 elevated alkaline phosphatase 33 HP:0003155
12 fat malabsorption 33 HP:0002630
13 intermittent jaundice 33 HP:0001046

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# 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:

47
# 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

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 2

Drugs for Cholestasis, Progressive Familial Intrahepatic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2 Pharmaceutical Solutions Phase 3

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 (odevixibat);Placebo
2 Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC Types 1 & 2 Recruiting NCT03659916 Phase 3 A4250
3 A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC) Not yet recruiting NCT03905330 Phase 3 Maralixibat
4 NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion Enrolling by invitation NCT03930810

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

Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 2

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 2

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

# Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 2 30 ABCB11

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 2

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

42
Liver, Spleen

Publications for Cholestasis, Progressive Familial Intrahepatic, 2

Articles related to Cholestasis, Progressive Familial Intrahepatic, 2:

(show all 15)
# 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
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. ( 20232290 )
2010
6
PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here? ( 20214736 )
2010
7
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. ( 17947449 )
2008
8
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
9
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ( 16290310 )
2006
10
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. ( 16039748 )
2005
11
Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. ( 15791618 )
2005
12
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )
2004
13
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. ( 10579978 )
1999
14
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. ( 9806540 )
1998
15
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. ( 9326328 )
1997

Variations for Cholestasis, Progressive Familial Intrahepatic, 2

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

76 (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 rs127455890
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 all 35)
# 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_003742.4(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh37 Chromosome 2, 169847329: 169847329
4 ABCB11 NM_003742.4(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 rs1553469602 GRCh38 Chromosome 2, 168990801: 168990801
6 ABCB11 NM_003742.2(ABCB11): c.908delG (p.Arg303Serfs) deletion Pathogenic rs1553469602 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_003742.4(ABCB11): c.150+3A> C single nucleotide variant Pathogenic rs387906354 GRCh37 Chromosome 2, 169870810: 169870810
10 ABCB11 NM_003742.4(ABCB11): c.150+3A> C single nucleotide variant Pathogenic rs387906354 GRCh38 Chromosome 2, 169014300: 169014300
11 ABCB11 NM_003742.4(ABCB11): c.2783_2787dup (p.Lys930Glufs) duplication Pathogenic GRCh37 Chromosome 2, 169792767: 169792771
12 ABCB11 NM_003742.4(ABCB11): c.2783_2787dup (p.Lys930Glufs) duplication Pathogenic GRCh38 Chromosome 2, 168936257: 168936261
13 ABCB11 NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter) single nucleotide variant Pathogenic rs72549397 GRCh37 Chromosome 2, 169788931: 169788931
14 ABCB11 NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter) single nucleotide variant Pathogenic rs72549397 GRCh38 Chromosome 2, 168932421: 168932421
15 ATP8B1 NM_005603.6(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh37 Chromosome 18, 55373793: 55373793
16 ATP8B1 NM_005603.6(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh38 Chromosome 18, 57706561: 57706561
17 ABCB11 NM_003742.4(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh37 Chromosome 2, 169825008: 169825008
18 ABCB11 NM_003742.4(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh38 Chromosome 2, 168968498: 168968498
19 ABCB11 NM_003742.4(ABCB11): c.2125G> A (p.Glu709Lys) single nucleotide variant Uncertain significance rs201800225 GRCh37 Chromosome 2, 169820769: 169820769
20 ABCB11 NM_003742.4(ABCB11): c.2125G> A (p.Glu709Lys) single nucleotide variant Uncertain significance rs201800225 GRCh38 Chromosome 2, 168964259: 168964259
21 ABCB11 NM_003742.4(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh37 Chromosome 2, 169870812: 169870812
22 ABCB11 NM_003742.4(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh38 Chromosome 2, 169014302: 169014302
23 ABCB11 NM_003742.4(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh37 Chromosome 2, 169874614: 169874614
24 ABCB11 NM_003742.4(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh38 Chromosome 2, 169018104: 169018104
25 ABCB11 NC_000002.12: g.168973723_168973796del74 deletion Pathogenic rs1553466863 GRCh37 Chromosome 2, 169830232: 169830305
26 ABCB11 NC_000002.12: g.168973723_168973796del74 deletion Pathogenic rs1553466863 GRCh38 Chromosome 2, 168973723: 168973796
27 ABCB11 NM_003742.4(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Conflicting interpretations of pathogenicity rs188824058 GRCh37 Chromosome 2, 169828535: 169828535
28 ABCB11 NM_003742.4(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Conflicting interpretations of pathogenicity rs188824058 GRCh38 Chromosome 2, 168972025: 168972025
29 ABCB11 NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh37 Chromosome 2, 169801435: 169801435
30 ABCB11 NM_003742.4(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh38 Chromosome 2, 168944925: 168944925
31 ABCB11 NM_003742.4(ABCB11): c.998T> A (p.Ile333Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 169842705: 169842705
32 ABCB11 NM_003742.4(ABCB11): c.998T> A (p.Ile333Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 168986195: 168986195
33 ABCB11 NM_003742.4(ABCB11): c.1416T> A (p.Tyr472Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 168973733: 168973733
34 ABCB11 NM_003742.4(ABCB11): c.1416T> A (p.Tyr472Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 169830243: 169830243
35 ABCB11 GRCh37/hg19 2q31.1(chr2: 169824976-169830328) copy number loss Pathogenic GRCh37 Chromosome 2, 169824976: 169830328

Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:

9 (show top 50) (show all 3365)
# 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 0
2 COSM1615665 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 0
3 COSM1602238 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 0
4 COSM6951673 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 0
5 COSM1616325 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 0
6 COSM3707827 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 0
7 COSM3707828 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 0
8 COSM1623051 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 0
9 COSM1612127 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 0
10 COSM1618451 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581L 4:145885684-145885684 0
11 COSM1611545 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 0
12 COSM1612685 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47V 19:52002156-52002156 0
13 COSM1612018 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 0
14 COSM1618219 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 0
15 COSM1624399 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 0
16 COSM1609798 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 0
17 COSM1605856 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 0
18 COSM1602404 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 0
19 COSM1607880 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221A 14:67807621-67807621 0
20 COSM3661787 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 0
21 COSM1270878 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 0
22 COSM1612900 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 0
23 COSM3663890 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 0
24 COSM6969923 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 0
25 COSM3717069 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 0
26 COSM6219678 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 0
27 COSM1613453 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 0
28 COSM3717124 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 0
29 COSM1608898 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 0
30 COSM3705381 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 0
31 COSM1601838 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 0
32 COSM1610770 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 0
33 COSM1601260 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 0
34 COSM1624206 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2136A>G p.T712T 8:80518852-80518852 0
35 COSM1624207 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2311A>G p.I771V 8:80519295-80519295 0
36 COSM1616586 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 0
37 COSM1624117 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1568A>G p.N523S 8:63187582-63187582 0
38 COSM1603361 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 0
39 COSM1617254 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167N 3:183722100-183722100 0
40 COSM3663693 XPO7 liver,NS,carcinoma,hepatocellular carcinoma c.806A>G p.Y269C 8:21977812-21977812 0
41 COSM1609152 XPO6 liver,NS,carcinoma,hepatocellular carcinoma c.882C>T p.G294G 16:28156289-28156289 0
42 COSM6957749 XPO1 liver,NS,carcinoma,hepatocellular carcinoma c.301+1G>C p.? 2:61522610-61522610 0
43 COSM1624082 XKR4 liver,NS,carcinoma,hepatocellular carcinoma c.1076A>G p.D359G 8:55523350-55523350 0
44 COSM1613650 XIRP2 liver,NS,carcinoma,hepatocellular carcinoma c.9350G>C p.R3117P 2:167250742-167250742 0
45 COSM3660541 XIRP1 liver,NS,carcinoma,hepatocellular carcinoma c.142C>A p.Q48K 3:39189304-39189304 0
46 COSM1625463 XIAP liver,NS,carcinoma,hepatocellular carcinoma c.493G>T p.A165S 23:123886155-123886155 0
47 COSM3663909 WWP1 liver,NS,carcinoma,hepatocellular carcinoma c.210-2A>G p.? 8:86381503-86381503 0
48 COSM1625309 WWC3 liver,NS,carcinoma,hepatocellular carcinoma c.1121C>A p.S374Y 23:10117180-10117180 0
49 COSM1621161 WTAP liver,NS,carcinoma,hepatocellular carcinoma c.283C>T p.Q95* 6:159748200-159748200 0
50 COSM6909096 WT1 liver,NS,carcinoma,hepatocellular carcinoma c.1019T>G p.L340* 11:32396283-32396283 0

Expression for Cholestasis, Progressive Familial Intrahepatic, 2

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

Pathways for Cholestasis, Progressive Familial Intrahepatic, 2

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 ABCB11 ABCB4
2
Show member pathways
11.44 ABCB11 ABCG5
3
Show member pathways
11.28 NR0B2 NR1H4
4 11 ABCB11 ABCB4 ABCG5 NR1H4
5 10.88 ABCB11 ABCB4 ABCG5 NR0B2 NR1H4
6 10.54 ABCB11 ABCB4 NR0B2 NR1H4
7 10.49 ABCB11 NR1H4

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 2

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 8.32 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 for Cholestasis, Progressive Familial Intrahepatic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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