MCID: LWG002
MIFTS: 17

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 23 25
Low Gamma-Glutamyltranspeptidase Familial Intrahepatic Cholestasis 23
 
Cholestasis, Progressive Familial Intrahepatic 3 66

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, hepatomegaly and pruritus. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1). Related mouse phenotype 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 for Low Gamma-Gt Familial Intrahepatic Cholestasis

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


diarrhea, hepatomegaly, pruritus

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
1LecithinNutraceutical68

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 Cholestasis25 23 ATP8B1

Anatomical Context for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Animal Models for Low Gamma-Gt Familial Intrahepatic Cholestasis or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.6ABCB11, ATP8B1

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

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

idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:00157219.1ABCB11, ATP8B1

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet