MCID: LWG002
MIFTS: 24

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Category: Genetic diseases (common)

Aliases & Classifications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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

Name: Low Gamma-Gt Familial Intrahepatic Cholestasis 24 27
Low Gamma-Glutamyltranspeptidase Familial Intrahepatic Cholestasis 24
 
Cholestasis, Progressive Familial Intrahepatic 3 68

Classifications:



Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

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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 are Hepatic ABC Transporters and Bile secretion. Related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and liver/biliary system.

Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Graphical network of 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

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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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.7ABCB11, ATP8B1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ABCB11, ABCB4, ATP8B1

Drugs & Therapeutics for Low Gamma-Gt Familial Intrahepatic Cholestasis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and Salts106
2Gastrointestinal Agents8402
3LecithinNutraceutical74

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intralumenal Effects on Cholesterol Absorption/SynthesisCompletedNCT00328211

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

Genetic Tests for Low Gamma-Gt Familial Intrahepatic Cholestasis

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

id Genetic test Affiliating Genes
1 Low Gamma-Gt Familial Intrahepatic Cholestasis27 24 ATP8B1

Anatomical Context for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Articles related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

idTitleAuthorsYear
1
Low Gamma-GT Familial Intrahepatic Cholestasis (20301474)
1993

Variations for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Expression for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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

Pathways for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ABCB11, ABCB4
29.1ABCB11, ABCB4
39.1ABCB11, ABCB4
49.1ABCB11, ABCB4

GO Terms for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:001632410.1ABCB4, ATP8B1
2brush border membraneGO:003152610.0ABCB4, ATP8B1
3apical part of cellGO:00451779.9ABCB11, ABCB4
4intercellular canaliculusGO:00465819.1ABCB11, ABCB4
5integral component of plasma membraneGO:00058878.7ABCB11, ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1drug transmembrane transportGO:000685510.1ABCB4, ATP8B1
2lipid transportGO:000686910.1ABCB4, ATP8B1
3phospholipid translocationGO:004533210.1ABCB4, ATP8B1
4bile acid and bile salt transportGO:00157219.8ABCB11, ATP8B1
5transportGO:00068108.5ABCB11, ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.6ABCB11, ABCB4
2ATPase activity, coupled to transmembrane movement of substancesGO:00426269.1ABCB11, ABCB4
3ATP bindingGO:00055249.1ABCB11, ABCB4, ATP8B1

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet