MCID: CHL081
MIFTS: 40

Cholestasis, Progressive Familial Intrahepatic 2 malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases categories

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 2

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Cholestasis, Progressive Familial Intrahepatic 2:

Name: Cholestasis, Progressive Familial Intrahepatic 2 49 11 45
Pfic2 45 22 47 51 67
Progressive Familial Intrahepatic Cholestasis Type 2 51 24
Cholestasis, Progressive Familial Intrahepatic, 2 65 67
 
Progressive Familial Intrahepatic Cholestasis 2 45 22
Bsep Deficiency 51
Pfic-2 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
pfic2:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 601847
Orphanet51 79304
UMLS via Orphanet66 C1866138
ICD10 via Orphanet28 K83.1
MESH via Orphanet37 C535934
MeSH36 D002780

Summaries for Cholestasis, Progressive Familial Intrahepatic 2

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NIH Rare Diseases:45 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 pancreatitis and intrahepatic cholestasis, and has symptoms including autosomal recessive inheritance, pruritus and intermittent jaundice. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 2 is ABCB11 (ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11), and among its related pathways are Hepatic ABC Transporters and ABC-family proteins mediated transport. Affiliated tissues include liver and spleen, and related mouse phenotype liver/biliary system.

UniProtKB/Swiss-Prot:67 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:49 601847

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 2

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Diseases in the Intrahepatic Cholestasis family:

cholestasis, progressive familial intrahepatic 2 Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
Cholestasis, Progressive Familial Intrahepatic 1 Cholestasis, Benign Recurrent Intrahepatic
Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis

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

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis10.6
2intrahepatic cholestasis10.3
3cholestasis10.3
4cholestasis, progressive familial intrahepatic 110.3
5abcb11-related intrahepatic cholestasis10.2
6fibrous histiocytoma9.9ABCB11, ABCB4
7primary ciliary dyskinesia9.9ABCB11, ABCB4
8acid sphingomyelinase deficiency9.9ABCB11, ATP8B1
9congenital heart defects, multiple types, 49.8ABCB11, ATP8B1
10cholecystitis9.8ABCB11, ABCB4
11macrocephaly, alopecia, cutis laxa, and scoliosis9.8ABCB4, ATP8B1
12lrba-related common variable immune deficiency with autoimmunity9.7ABCB11, ABCB4, ATP8B1
13cholestasis, intrahepatic, of pregnancy, 19.7ABCB11, ABCB4, ATP8B1
14cholestasis, progressive familial intrahepatic 39.7ABCB11, ABCB4, ATP8B1
15gastrointestinal tuberculosis9.6ABCB11, ABCB4, ATP8B1
16cholestasis, progressive familial intrahepatic 29.5ABCB11, ABCB4, ATP8B1, TJP2
17cholestasis, benign recurrent intrahepatic9.5ABCB11, ABCB4, ATP8B1, TJP2
18bile duct rhabdomyosarcoma9.5ABCB11, ABCB4, ATP8B1, TJP2
19biliary tract neoplasm9.5ABCB11, ABCB4, ATP8B1, TJP2
20chronic rheumatic pericarditis9.5ABCB11, ABCB4, ATP8B1, TJP2
21cholesteatoma9.4ABCB11, ABCB4, ATP8B1, TJP2
22lymphedema9.4ABCB11, ABCB4, ATP8B1, TJP2

Graphical network of the top 20 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 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 pruritus HP:0000989
3 intermittent jaundice HP:0001046
4 cirrhosis HP:0001394
5 hepatocellular carcinoma HP:0001402
6 intrahepatic cholestasis HP:0001406
7 failure to thrive HP:0001508
8 splenomegaly HP:0001744
9 diarrhea HP:0002014
10 hepatomegaly HP:0002240
11 fat malabsorption HP:0002630
12 conjugated hyperbilirubinemia HP:0002908
13 elevated alkaline phosphatase HP:0003155
14 infantile onset HP:0003593
15 death in childhood HP:0003819
16 short stature HP:0004322

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 2

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 280
2Protein C Inhibitor81
3Alpha 1-Antitrypsin83

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, Type 222
2 Progressive Familial Intrahepatic Cholestasis 224

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 2

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

33
Liver, Spleen

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ABCB11, ABCB4, ATP8B1

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:

67
id Symbol AA change Variation ID SNP ID
1ABCB11p.Glu297GlyVAR_010271
2ABCB11p.Val284LeuVAR_013332
3ABCB11p.Lys461GluVAR_013334
4ABCB11p.Asp482GlyVAR_013335
5ABCB11p.Gly982ArgVAR_013336
6ABCB11p.Gly1004AspVAR_013337
7ABCB11p.Arg1153CysVAR_013338
8ABCB11p.Arg1268GlnVAR_013339
9ABCB11p.Gly238ValVAR_030388
10ABCB11p.Cys336SerVAR_030390

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1TJP2NM_004817.3(TJP2): c.766_769delGCCT (p.Ala256Thrfs)deletionPathogenicrs587777518GRCh37Chr 9, 71836226: 71836229
2TJP2NM_004817.3(TJP2): c.885delC (p.Ser296Alafs)deletionPathogenicrs587777519GRCh37Chr 9, 71836345: 71836345
3TJP2NM_004817.3(TJP2): c.1361delC (p.Ala454Glyfs)deletionPathogenicrs587777520GRCh37Chr 9, 71842938: 71842938
4TJP2NM_004817.3(TJP2): c.1992-2A> Gsingle nucleotide variantPathogenicrs587777521GRCh37Chr 9, 71851863: 71851863
5TJP2NM_004817.3(TJP2): c.3408_3573del166 (p.Ser1136Argfs)deletionPathogenicGRCh37Chr 9, 71869125: 71869290
6ABCB11NM_003742.2(ABCB11): c.1723C> T (p.Arg575Ter)single nucleotide variantPathogenicrs72549401GRCh37Chr 2, 169826641: 169826641
7ABCB11NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly)single nucleotide variantPathogenicrs11568372GRCh37Chr 2, 169847329: 169847329
8ABCB11ABCB11, 1-BP DEL, 908GdeletionPathogenic
9ABCB11NM_003742.2(ABCB11): c.3767dupC (p.Val1257Glyfs)duplicationPathogenicrs387907317GRCh37Chr 2, 169780331: 169780331
10ABCB11NM_003742.2(ABCB11): c.150+3A> Csingle nucleotide variantPathogenicrs387906354GRCh37Chr 2, 169870810: 169870810
11ABCB11ABCB11, 5-BP INS, GAGATinsertionPathogenic
12ABCB11NM_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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Pathways related to Cholestasis, Progressive Familial Intrahepatic 2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4ABCB11, ABCB4
2
Show member pathways
9.4ABCB11, ABCB4
39.4ABCB11, ABCB4
49.4ABCB11, ABCB4

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

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

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:004658110.2ABCB11, ABCB4
2apical plasma membraneGO:00163249.4ABCB4, ATP8B1
3integral component of plasma membraneGO:00058878.9ABCB11, ABCB4, ATP8B1
4plasma membraneGO:00058868.0ABCB11, ABCB4, ATP8B1, TJP2

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

idNameGO IDScoreTop Affiliating Genes
1drug transmembrane transportGO:00068559.6ABCB4, ATP8B1
2bile acid and bile salt transportGO:00157219.6ABCB11, ATP8B1
3phospholipid translocationGO:00453329.5ABCB4, ATP8B1
4bile acid metabolic processGO:00082068.8ABCB11, ATP8B1
5transmembrane transportGO:00550858.6ABCB11, ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426269.8ABCB11, ABCB4
2ATPase activityGO:00168879.4ABCB11, ABCB4

Sources for Cholestasis, Progressive Familial Intrahepatic 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet