PFIC2
MCID: CHL081
MIFTS: 30

Cholestasis, Progressive Familial Intrahepatic 2 (PFIC2) malady

Genetic diseases, Rare diseases, Liver diseases, Gastrointestinal diseases categories
Download this MalaCard

Summaries for Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 601847,615878

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
43NIH Rare Diseases, 47OMIM, 62UMLS, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
pfic2:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cholestasis, progressive familial intrahepatic 2 43 47 62
progressive familial intrahepatic cholestasis 2 43 20 22
pfic2 43 45 49
progressive familial intrahepatic cholestasis type 2 49
bsep deficiency 49


External Ids:

MESH via Orphanet36 C535934
ICD10 via Orphanet26 K83.1
UMLS via Orphanet63 C1866138

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

601847

Clinical features from OMIM:

601847,615878

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Cholestasis, Progressive Familial Intrahepatic 2

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic 2

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Liver

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

About this section

Publications for Cholestasis, Progressive Familial Intrahepatic 2

About this section

Variations for Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

About this section
Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Cholestasis, Progressive Familial Intrahepatic 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1112.1TJP2, ABCB11
2atp45 2910.0TJP2, ABCB11
3tyrosine458.8TJP2, ABCB11

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

About this section

Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cholestasis, Progressive Familial Intrahepatic 2

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet