MCID: CHL081
MIFTS: 30

Cholestasis, Progressive Familial Intrahepatic 2 malady

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 2

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Sources:
50OMIM, 12diseasecard, 68UniProtKB/Swiss-Prot, 66UMLS, 46NIH Rare Diseases, 52Orphanet, 23GeneTests, 48Novoseek, 25GTR, 38MESH via Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Progressive Familial Intrahepatic 2:

Name: Cholestasis, Progressive Familial Intrahepatic 2 50 12
Pfic2 46 23 52 68 48
Cholestasis, Progressive Familial Intrahepatic, 2 50 68 66
Progressive Familial Intrahepatic Cholestasis, Type 2 23 25
 
Progressive Familial Intrahepatic Cholestasis Type 2 46 52
Severe Abcb11 Deficiency 46
Bsep Deficiency 52
Pfic-2 23

Characteristics:

Orphanet epidemiological data:

52
pfic2:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
cholestasis, progressive familial intrahepatic 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM50 601847
Orphanet52 ORPHA79304
MESH via Orphanet38 C535934
ICD10 via Orphanet29 K76.8
UMLS via Orphanet67 C1866138
MeSH37 D002780

Summaries for Cholestasis, Progressive Familial Intrahepatic 2

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NIH Rare Diseases:46 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. last updated: 11/4/2015

MalaCards based summary: Cholestasis, Progressive Familial Intrahepatic 2, also known as pfic2, is related to cholestasis, progressive familial intrahepatic 1 and abcb11-related intrahepatic cholestasis, and has symptoms including diarrhea, hepatomegaly and pruritus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11). Affiliated tissues include liver and spleen.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 601847

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 2

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



Diseases related to cholestasis, progressive familial intrahepatic 2

Symptoms for Cholestasis, Progressive Familial Intrahepatic 2

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Symptoms by clinical synopsis from OMIM:

601847

Clinical features from OMIM:

601847

HPO human phenotypes related to Cholestasis, Progressive Familial Intrahepatic 2:

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

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic 2:


diarrhea, hepatomegaly, pruritus

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic CholestasisActive, not recruitingNCT02057718Phase 2
2Second-line Therapy of Unresectable Cholangiocarcinoma by RADIOEMBOLIZATIONTerminatedNCT01383746Phase 1, Phase 2
3Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
4Sulfation of Bile Acids as a Biomarker for Hepatobiliary DiseasesNot yet recruitingNCT01200082

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic 2

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 2

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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 2:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 225
2 Progressive Familial Intrahepatic Cholestasis, Type 223

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 2

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

34
Liver, Spleen

Animal Models for Cholestasis, Progressive Familial Intrahepatic 2 or affiliated genes

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Publications for Cholestasis, Progressive Familial Intrahepatic 2

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Variations for Cholestasis, Progressive Familial Intrahepatic 2

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

68 (show all 12)
id Symbol AA change Variation ID SNP ID
1ABCB11p.Glu297GlyVAR_010271rs11568372
2ABCB11p.Val284LeuVAR_013332
3ABCB11p.Lys461GluVAR_013334
4ABCB11p.Asp482GlyVAR_013335rs72549402
5ABCB11p.Gly982ArgVAR_013336rs72549399
6ABCB11p.Gly1004AspVAR_013337
7ABCB11p.Arg1153CysVAR_013338rs72549395
8ABCB11p.Arg1268GlnVAR_013339
9ABCB11p.Gly238ValVAR_030388
10ABCB11p.Cys336SerVAR_030390
11ABCB11p.Tyr472CysVAR_073968rs369860506
12ABCB11p.Asp1131ValVAR_073971

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB11NM_003742.2(ABCB11): c.1723C> T (p.Arg575Ter)single nucleotide variantPathogenicrs72549401GRCh37Chr 2, 169826641: 169826641
2ABCB11NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly)single nucleotide variantPathogenicrs11568372GRCh37Chr 2, 169847329: 169847329
3ABCB11ABCB11, 1-BP DEL, 908GdeletionPathogenic
4ABCB11NM_003742.2(ABCB11): c.3767dupC (p.Val1257Glyfs)duplicationPathogenicrs387907317GRCh37Chr 2, 169780331: 169780331
5ABCB11NM_003742.2(ABCB11): c.150+3A> Csingle nucleotide variantPathogenicrs387906354GRCh37Chr 2, 169870810: 169870810
6ABCB11ABCB11, 5-BP INS, GAGATinsertionPathogenic
7ABCB11NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter)single nucleotide variantPathogenicrs72549397GRCh37Chr 2, 169788931: 169788931

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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

Pathways for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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GO Terms for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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Sources for Cholestasis, Progressive Familial Intrahepatic 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet