MCID: LWG002
MIFTS: 24

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Categories: Genetic diseases

Aliases & Classifications for Low Gamma-Gt Familial Intrahepatic Cholestasis

Aliases & Descriptions for Low Gamma-Gt Familial Intrahepatic Cholestasis:

Name: Low Gamma-Gt Familial Intrahepatic Cholestasis 24 29
Low Gamma-Glutamyltranspeptidase Familial Intrahepatic Cholestasis 24
Cholestasis, Progressive Familial Intrahepatic 3 69

Classifications:



Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

MalaCards based summary : Low Gamma-Gt Familial Intrahepatic Cholestasis, also known as low gamma-glutamyltranspeptidase familial intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic and cholestasis, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Hepatic ABC Transporters and Bile secretion. The drugs Gastrointestinal Agents and Bile Acids and Salts have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and liver/biliary system

Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

Graphical network of the top 20 diseases related to Low Gamma-Gt Familial Intrahepatic Cholestasis:



Diseases related to Low Gamma-Gt Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Low Gamma-Gt Familial Intrahepatic Cholestasis

UMLS symptoms related to Low Gamma-Gt Familial Intrahepatic Cholestasis:


diarrhea, icterus, pruritus

GenomeRNAi Phenotypes related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.17 ATP8B1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.17 ABCB11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.17 ATP8B1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.17 ABCB11 ATP8B1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.17 ATP8B1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.17 ABCB11

MGI Mouse Phenotypes related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.8 ABCB11 ABCB4 ATP8B1

Drugs & Therapeutics for Low Gamma-Gt Familial Intrahepatic Cholestasis

Drugs for Low Gamma-Gt Familial Intrahepatic Cholestasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gastrointestinal Agents
2 Bile Acids and Salts
3 Lecithin Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Intralumenal Effects on Cholesterol Absorption/Synthesis Completed NCT00328211

Search NIH Clinical Center for Low Gamma-Gt Familial Intrahepatic Cholestasis

Genetic Tests for Low Gamma-Gt Familial Intrahepatic Cholestasis

Genetic tests related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

id Genetic test Affiliating Genes
1 Low Gamma-Gt Familial Intrahepatic Cholestasis 29 24 ATP8B1

Anatomical Context for Low Gamma-Gt Familial Intrahepatic Cholestasis

Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

Articles related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

id Title Authors Year
1
Low Gamma-GT Familial Intrahepatic Cholestasis ( 20301474 )
1993

Variations for Low Gamma-Gt Familial Intrahepatic Cholestasis

Expression for Low Gamma-Gt Familial Intrahepatic Cholestasis

Search GEO for disease gene expression data for Low Gamma-Gt Familial Intrahepatic Cholestasis.

Pathways for Low Gamma-Gt Familial Intrahepatic Cholestasis

Pathways related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 ABCB11 ABCB4
2 11.01 ABCB11 ABCB4
3 10.5 ABCB11 ABCB4
4 9.9 ABCB11 ABCB4

GO Terms for Low Gamma-Gt Familial Intrahepatic Cholestasis

Cellular components related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.43 ABCB11 ABCB4 ATP8B1
2 apical plasma membrane GO:0016324 9.32 ABCB4 ATP8B1
3 apical part of cell GO:0045177 9.16 ABCB11 ABCB4
4 brush border membrane GO:0031526 8.96 ABCB4 ATP8B1
5 intercellular canaliculus GO:0046581 8.62 ABCB11 ABCB4

Biological processes related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.5 ABCB11 ABCB4 ATP8B1
2 lipid transport GO:0006869 9.26 ABCB4 ATP8B1
3 bile acid and bile salt transport GO:0015721 9.16 ABCB11 ATP8B1
4 phospholipid translocation GO:0045332 8.96 ABCB4 ATP8B1
5 drug transmembrane transport GO:0006855 8.62 ABCB4 ATP8B1

Molecular functions related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.33 ABCB11 ABCB4 ATP8B1
2 ATPase activity GO:0016887 8.96 ABCB11 ABCB4
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.62 ABCB11 ABCB4

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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