MCID: CHL081
MIFTS: 30

Cholestasis, Progressive Familial Intrahepatic 2 malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Reproductive diseases, Respiratory diseases categories

Summaries for Cholestasis, Progressive Familial Intrahepatic 2

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MalaCards based summary: Cholestasis, Progressive Familial Intrahepatic 2, also known as progressive familial intrahepatic cholestasis type 2, 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). The compounds calcium and atp have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:45 601847

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 2

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cholestasis, Progressive Familial Intrahepatic 2, Aliases & Descriptions:

Name: Cholestasis, Progressive Familial Intrahepatic 2 45 10 41
Progressive Familial Intrahepatic Cholestasis Type 2 41 20 47 22
Pfic2 41 43 47
 
Cholestasis, Progressive Familial Intrahepatic, 2 45 60
Bsep Deficiency 41 47
Progressive Familial Intrahepatic Cholestasis 2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
progressive familial intrahepatic cholestasis type 2:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 601847
Orphanet47 79304
MESH via Orphanet34 C535934
ICD10 via Orphanet26 K83.1
UMLS via Orphanet61 C1866138

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 15)
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 short stature HP:0004322

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 2

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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

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

31
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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UniProtKB/Swiss-Prot 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

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

6
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, 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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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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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Cholestasis, Progressive Familial Intrahepatic 2 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1calcium43 49 24 1212.1TJP2, ABCB11
2atp43 2810.0TJP2, ABCB11
3tyrosine438.8TJP2, 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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  • Kits and Assays

Sources for Cholestasis, Progressive Familial Intrahepatic 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet