PFIC2
MCID: CHL081
MIFTS: 30

Cholestasis, Progressive Familial Intrahepatic 2 (PFIC2) malady

Genetic diseases, Rare diseases, Liver diseases, Gastrointestinal diseases categories

Summaries for Cholestasis, Progressive Familial Intrahepatic 2

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48OMIM, 34MalaCards
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MalaCards: Cholestasis, Progressive Familial Intrahepatic 2, also known as progressive familial intrahepatic cholestasis 2, is related to pancreatitis and intrahepatic cholestasis. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 2 is ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), member 11). The compounds calcium and atp have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:48 601847,615878

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 2

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44NIH Rare Diseases, 48OMIM, 63UMLS, 46Novoseek, 50Orphanet, 21GeneTests, 23GTR, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
pfic2:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cholestasis, progressive familial intrahepatic 2 44 48 63
progressive familial intrahepatic cholestasis 2 44 21 23
pfic2 44 46 50
progressive familial intrahepatic cholestasis type 2 50
bsep deficiency 50


External Ids:

MESH via Orphanet37 C535934
ICD10 via Orphanet27 K83.1
UMLS via Orphanet64 C1866138

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 2

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

601847

Clinical features from OMIM:

601847,615878

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 2

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21GeneTests, 23GTR
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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 2:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 221
2 Progressive Familial Intrahepatic Cholestasis 223

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 2

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34MalaCards
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MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic 2:

34
Liver

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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 2:

65
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:

1
id Gene Name 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, 169780330: 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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Pathways for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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Compounds for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Cholestasis, Progressive Familial Intrahepatic 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium46 52 25 1212.1TJP2, ABCB11
2atp46 3010.0TJP2, ABCB11
3tyrosine468.8TJP2, ABCB11

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

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Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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Sources for Cholestasis, Progressive Familial Intrahepatic 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet