Cholestasis, Progressive Familial Intrahepatic, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PFIC2 MCID: CHL136 MIFTS: 48	Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2) Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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:

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:0070222

OMIM ⁵⁸ 601847

MeSH ⁴⁵ C535934 D002780

MESH via Orphanet ⁴⁶ C535934

ICD10 via Orphanet ³⁵ K76.8

UMLS via Orphanet ⁷⁵ C1866138 C3489789

Orphanet ⁶⁰ ORPHA79304

MedGen ⁴³ C1866138 C3489789

UMLS ⁷⁴ C1866138 C3489789

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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

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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:

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Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 2

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

³³ (show all 13)

#	Description	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

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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

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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

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Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 2

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

⁴²

Liver, Spleen

Sources

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 )	Davit-Spraul A...Jacquemin E	2014
2	Multiple dysplastic liver nodules in PFIC2 underscore risk for neoplasia associated with functional BSEP deficiency. ( 22472955 )	Sheridan RM...Bove KE	2012
3	Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. ( 21490445 )	Evason K...Kim GE	2011
4	Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings. ( 21219577 )	Shimizu H...Arai K	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 )	Davit-Spraul A...Jacquemin E	2010
6	PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here? ( 20214736 )	Ananthanarayanan M...Li Y	2010
7	Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. ( 17947449 )	Kagawa T...Mine T	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 )	Takahashi A...Kuwano H	2007
9	A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ( 16290310 )	Lam CW...Tong SF	2006
10	Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. ( 16039748 )	Noe J...Pauli-Magnus C	2005
11	Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. ( 15791618 )	Hayashi H...Sugiyama Y	2005
12	Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )	van Mil SW...Klomp LW	2004
13	Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. ( 10579978 )	Jansen PL...M?ller M	1999
14	A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. ( 9806540 )	Strautnieks SS...Thompson RJ	1998
15	Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. ( 9326328 )	Strautnieks SS...Thompson RJ	1997

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Genes for Cholestasis, Progressive Familial Intrahepatic, 2

Genes related to Cholestasis, Progressive Familial Intrahepatic, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1700.2	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)	9806540 20301474 10579978 (more) 15300568 16039748 16039748 11172067 20414253 9806540 18487280 19133130 17241866 20422495 17855769 19753442 17538928
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	30.12	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	20414253 16628629 19133130 (more) 17241866 19753442
3	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	28.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	20414253 19753442 17241866 (more) 16763017
4	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	15.19	DISEASES inferred ¹⁵
5	NR0B2	Nuclear Receptor Subfamily 0 Group B Member 2	Protein Coding	15.18	DISEASES inferred ¹⁵
6	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	15.15	DISEASES inferred ¹⁵

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

Sources

Expression for Cholestasis, Progressive Familial Intrahepatic, 2

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

Sources

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	Hepatic ABC Transporters ⁶⁵ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁵	11.5	ABCB11 ABCB4
2	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁸ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶²	11.44	ABCB11 ABCG5
3	Nuclear Receptor transcription pathway ⁶⁷ Show member pathways Nuclear Receptors ¹	11.28	NR0B2 NR1H4
4	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	11	ABCB11 ABCB4 ABCG5 NR1H4
5	Bile secretion ³⁸	10.88	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

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

Sources for Cholestasis, Progressive Familial Intrahepatic, 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 2

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cholestasis, Progressive Familial Intrahepatic, 2

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 2

Diseases in the Progressive Familial Intrahepatic Cholestasis family:

Diseases related to Cholestasis, Progressive Familial Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 2

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

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Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 2

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 2

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Variations for Cholestasis, Progressive Familial Intrahepatic, 2

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Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:

Expression 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:

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 2

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

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

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

Sources for Cholestasis, Progressive Familial Intrahepatic, 2