PFIC2
MCID: CHL081
MIFTS: 25

Cholestasis, Progressive Familial Intrahepatic 2 (PFIC2) malady

Liver diseases, Metabolic diseases, Genetic diseases categories

Summaries for Cholestasis, Progressive Familial Intrahepatic 2

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46OMIM, 32MalaCards
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MalaCards: Cholestasis, Progressive Familial Intrahepatic 2, is also known as progressive familial intrahepatic cholestasis 2 An important gene associated with Cholestasis, Progressive Familial Intrahepatic 2 is ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), member 11). Affiliated tissues include liver.

Description from OMIM:46 601847

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Genetic diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

48
pfic2:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cholestasis, progressive familial intrahepatic 2 42 46 60
progressive familial intrahepatic cholestasis 2 42 20 22
pfic2 42 44 48
progressive familial intrahepatic cholestasis type 2 48
bsep deficiency 48


External Ids:

MESH via Orphanet35 C535934
ICD10 via Orphanet26 K83.1
UMLS via Orphanet61 C1866138
OMIM46 601847

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 2

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Clinical Features for Cholestasis, Progressive Familial Intrahepatic 2

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46OMIM
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Clinical features from OMIM:

601847

Clinical synopsis from OMIM:

601847

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic 2

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Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 2

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20GeneTests, 22GTR
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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 2:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 220
2 Progressive Familial Intrahepatic Cholestasis 222

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 2

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32MalaCards
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MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic 2:

32
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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Genetic Variations for Cholestasis, Progressive Familial Intrahepatic 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 2:

62
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

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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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Compounds 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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Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cholestasis, Progressive Familial Intrahepatic 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet