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

MCID: CHL136 MIFTS: 43	Cholestasis, Progressive Familial Intrahepatic, 2 Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases, Endocrine diseases
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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 ⁵⁷ ⁷⁵ ⁷³

Pfic2 ⁵⁷ ⁵³ ⁵⁹ ⁷⁵ ⁵⁵

Cholestasis, Progressive Familial Intrahepatic 2 ⁵⁷ ⁷⁶ ¹³

Progressive Familial Intrahepatic Cholestasis Type 2 ⁵³ ⁵⁹

Progressive Familial Intrahepatic Cholestasis 2 ²⁹ ⁶

Cholestasis, Intrahepatic, Familial, Progressive, Type 2 ⁴⁰

Severe Abcb11 Deficiency ⁵³

Bsep Deficiency ⁵⁹

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
Anatomical: Liver diseases Reproductive diseases Gastrointestinal diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

Orphanet: ⁵⁹

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 601847

Orphanet ⁵⁹ ORPHA79304

UMLS via Orphanet ⁷⁴ C1866138 C3489789

ICD10 via Orphanet ³⁴ K76.8

MESH via Orphanet ⁴⁵ C535934

MedGen ⁴² C3489789 C1866138

MeSH ⁴⁴ D002780

UMLS ⁷³ C3489789

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Summaries for Cholestasis, Progressive Familial Intrahepatic, 2

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 intrahepatic cholestasis, and has symptoms including diarrhea, icterus and pruritus. 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 Bile secretion. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and splenomegaly

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

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Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 2

Diseases in the 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 12)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, progressive familial intrahepatic, 1	29.8	ABCB11 ABCB4 ATP8B1
2	intrahepatic cholestasis	28.5	ABCB11 ABCB4 ATP8B1
3	cholestasis	28.5	ABCB11 ABCB4 ATP8B1
4	sclerosing cholangitis	9.5	ABCB11 ABCB4
5	atp8b1 deficiency	9.4	ABCB11 ATP8B1
6	alagille syndrome 1	9.3	ABCB4 ATP8B1
7	cholestasis, benign recurrent intrahepatic, 1	9.3	ABCB11 ATP8B1
8	cholangitis	9.2	ABCB11 ABCB4
9	cholestasis, progressive familial intrahepatic, 3	8.9	ABCB11 ABCB4 ATP8B1
10	bile duct disease	8.9	ABCB11 ABCB4 ATP8B1
11	biliary tract disease	8.9	ABCB11 ABCB4 ATP8B1
12	liver disease	8.7	ABCB11 ABCB4 ATP8B1

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

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

AbdomenSpleen:
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 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:

diarrhea, icterus, pruritus

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	Decreased shRNA abundance (Z-score < -2)	GR00366-A-112	9.17	ATP8B1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-14	9.17	ABCB11
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-148	9.17	ATP8B1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-179	9.17	ABCB11 ATP8B1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.17	ATP8B1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	9.17	ABCB11

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	8.8	ABCB11 ABCB4 ATP8B1

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Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 2

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

Search NIH Clinical Center for 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 ²⁹	ABCB11

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Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 2

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

⁴¹

Liver, Spleen

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Publications for Cholestasis, Progressive Familial Intrahepatic, 2

Articles related to Cholestasis, Progressive Familial Intrahepatic, 2:

(show all 16)

#	Title	Authors	Year
1	A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. ( 28425419 )	Waisbourd-Zinman O....Wen J.	2017
2	Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. ( 27932171 )	Masahata K....Ueno T.	2016
3	Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2. ( 26019043 )	Czubkowski P....Pawlowska J.	2015
4	Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate. ( 25716872 )	Gonzales E....Jacquemin E.	2015
5	Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis Type 2. ( 25847299 )	Varma S....Sokal E.M.	2015
6	Brucella infection in a child with progressive familial intrahepatic cholestasis type 2 who had undergone liver transplantation. ( 26148181 )	Sutcu M....Salman N.	2015
7	Improved liver function and relieved pruritus after 4-phenylbutyrate therapy in a patient with progressive familial intrahepatic cholestasis type 2. ( 24530123 )	Naoi S....Kusuhara H.	2014
8	Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice. ( 24991443 )	Tibesar E....Karnsakul W.	2014
9	Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2. ( 23982689 )	Gonzales E....Jacquemin E.	2013
10	Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2. ( 22609309 )	Gonzales E....Jacquemin E.	2012
11	Discovery and structural development of small molecules that enhance transport activity of bile salt export pump mutant associated with progressive familial intrahepatic cholestasis type 2. ( 22464344 )	Misawa T....Hashimoto Y.	2012
12	Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. ( 20800306 )	Maggiore G....Jacquemin E.	2010
13	Normal levels of serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2. ( 21140002 )	Walkowiak J....PawA8owska J.	2010
14	Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2. ( 18853996 )	Chen S.T....Chang M.H.	2008
15	Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. ( 16641580 )	Walkowiak J....Socha J.	2006
16	A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. ( 14672610 )	Plass J.R....Jansen P.L.	2004

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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	1690.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	9806540 20301474 16039748 (more) 10579978 16039748 11172067 20414253 9806540 18487280 19133130 17241866 20422495 17855769 19753442 17538928
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	21.61	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	20414253 16628629 19133130 (more) 17241866 19753442
3	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	21.23	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	20414253 19753442 17241866 (more) 16763017

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Variations for Cholestasis, Progressive Familial Intrahepatic, 2

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 all 50)

#	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	ABCB11, 5-BP INS, GAGAT	insertion	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	ABCB11	NM_003742.2(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic	rs769910565	GRCh37	Chromosome 2, 169825008: 169825008
15	ABCB11	NM_003742.2(ABCB11): c.2012-8T> G	single nucleotide variant	Pathogenic	rs769910565	GRCh38	Chromosome 2, 168968498: 168968498
16	ABCB11	NM_003742.2(ABCB11): c.908+1G> A	single nucleotide variant	Pathogenic	rs147649016	GRCh37	Chromosome 2, 169847310: 169847310
17	ABCB11	NM_003742.2(ABCB11): c.908+1G> A	single nucleotide variant	Pathogenic	rs147649016	GRCh38	Chromosome 2, 168990800: 168990800
18	ABCB11	NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln)	single nucleotide variant	Pathogenic	rs758069019	GRCh37	Chromosome 2, 169781240: 169781240
19	ABCB11	NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln)	single nucleotide variant	Pathogenic	rs758069019	GRCh38	Chromosome 2, 168924730: 168924730
20	ABCB11	NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs)	deletion	Pathogenic	rs886043703	GRCh37	Chromosome 2, 169833124: 169833124
21	ABCB11	NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs)	deletion	Pathogenic	rs886043703	GRCh38	Chromosome 2, 168976614: 168976614
22	ABCB11	NM_003742.2(ABCB11): c.150+1G> A	single nucleotide variant	Pathogenic	rs886043875	GRCh37	Chromosome 2, 169870812: 169870812
23	ABCB11	NM_003742.2(ABCB11): c.150+1G> A	single nucleotide variant	Pathogenic	rs886043875	GRCh38	Chromosome 2, 169014302: 169014302
24	ABCB11	NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter)	single nucleotide variant	Pathogenic	rs886043935	GRCh37	Chromosome 2, 169842634: 169842634
25	ABCB11	NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter)	single nucleotide variant	Pathogenic	rs886043935	GRCh38	Chromosome 2, 168986124: 168986124
26	ABCB11	NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly)	single nucleotide variant	Pathogenic	rs72549402	GRCh37	Chromosome 2, 169828550: 169828550
27	ABCB11	NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly)	single nucleotide variant	Pathogenic	rs72549402	GRCh38	Chromosome 2, 168972040: 168972040
28	ABCB11	NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter)	single nucleotide variant	Pathogenic	rs886043986	GRCh37	Chromosome 2, 169874614: 169874614
29	ABCB11	NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter)	single nucleotide variant	Pathogenic	rs886043986	GRCh38	Chromosome 2, 169018104: 169018104
30	ABCB11	NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys)	single nucleotide variant	Pathogenic	rs72549395	GRCh37	Chromosome 2, 169783827: 169783827
31	ABCB11	NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys)	single nucleotide variant	Pathogenic	rs72549395	GRCh38	Chromosome 2, 168927317: 168927317
32	ABCB11	NC_000002.11: g.169830232_169830305del56	deletion	Pathogenic		GRCh37	Chromosome 2, 169830232: 169830305
33	ABCB11	NM_003742.2(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Likely pathogenic	rs188824058	GRCh37	Chromosome 2, 169828535: 169828535
34	ABCB11	NM_003742.2(ABCB11): c.1460G> A (p.Arg487His)	single nucleotide variant	Likely pathogenic	rs188824058	GRCh38	Chromosome 2, 168972025: 168972025
35	ABCB11	NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg)	single nucleotide variant	Pathogenic	rs763782349	GRCh37	Chromosome 2, 169814521: 169814521
36	ABCB11	NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg)	single nucleotide variant	Pathogenic	rs763782349	GRCh38	Chromosome 2, 168958011: 168958011
37	ABCB11	NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	GRCh37	Chromosome 2, 169801435: 169801435
38	ABCB11	NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter)	single nucleotide variant	Pathogenic	rs1060499579	GRCh38	Chromosome 2, 168944925: 168944925
39	ABCB11	NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh37	Chromosome 2, 169830251: 169830251
40	ABCB11	NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter)	single nucleotide variant	Pathogenic	rs774824767	GRCh38	Chromosome 2, 168973741: 168973741
41	ABCB11	NM_003742.3(ABCB11): c.1146_1166del21 (p.Phe383_Ala389del)	deletion	Uncertain significance		GRCh37	Chromosome 2, 169836407: 169836427
42	ABCB11	NM_003742.3(ABCB11): c.1146_1166del21 (p.Phe383_Ala389del)	deletion	Uncertain significance		GRCh38	Chromosome 2, 168979897: 168979917
43	ABCB11	NM_003742.3(ABCB11): c.2782C> T (p.Arg928Ter)	single nucleotide variant	Pathogenic	rs756529333	GRCh37	Chromosome 2, 169792772: 169792772
44	ABCB11	NM_003742.3(ABCB11): c.2782C> T (p.Arg928Ter)	single nucleotide variant	Pathogenic	rs756529333	GRCh38	Chromosome 2, 168936262: 168936262
45	ABCB11	NM_003742.3(ABCB11): c.1631delT (p.Leu544Argfs)	deletion	Pathogenic		GRCh37	Chromosome 2, 169828364: 169828364
46	ABCB11	NM_003742.3(ABCB11): c.1631delT (p.Leu544Argfs)	deletion	Pathogenic		GRCh38	Chromosome 2, 168971854: 168971854
47	ABCB11	NM_003742.3(ABCB11): c.3268C> T (p.Arg1090Ter)	single nucleotide variant	Pathogenic	rs72549396	GRCh37	Chromosome 2, 169787318: 169787318
48	ABCB11	NM_003742.3(ABCB11): c.3268C> T (p.Arg1090Ter)	single nucleotide variant	Pathogenic	rs72549396	GRCh38	Chromosome 2, 168930808: 168930808
49	ABCB11	NM_003742.3(ABCB11): c.2494C> T (p.Arg832Cys)	single nucleotide variant	Likely pathogenic	rs772294884	GRCh37	Chromosome 2, 169801231: 169801231
50	ABCB11	NM_003742.3(ABCB11): c.2494C> T (p.Arg832Cys)	single nucleotide variant	Likely pathogenic	rs772294884	GRCh38	Chromosome 2, 168944721: 168944721

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Expression for Cholestasis, Progressive Familial Intrahepatic, 2

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

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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 ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.35	ABCB11 ABCB4
2	Bile secretion ³⁷	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

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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	9.43	ABCB11 ABCB4 ATP8B1
2	apical plasma membrane	GO:0016324	9.32	ABCB4 ATP8B1
3	apical part of cell	GO:0045177	9.16	ABCB11 ABCB4
4	brush border membrane	GO:0031526	8.96	ABCB4 ATP8B1
5	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	lipid transport	GO:0006869	9.26	ABCB4 ATP8B1
2	bile acid and bile salt transport	GO:0015721	9.16	ABCB11 ATP8B1
3	drug transmembrane transport	GO:0006855	8.96	ABCB4 ATP8B1
4	phospholipid translocation	GO:0045332	8.62	ABCB4 ATP8B1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity	GO:0016887	9.16	ABCB11 ABCB4
2	ATP binding	GO:0005524	9.13	ABCB11 ABCB4 ATP8B1
3	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	8.62	ABCB11 ABCB4

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia