MCID: LWG002
MIFTS: 18

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Genetic diseases (common) category

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 22
Low Gamma-Glutamyltranspeptidase Familial Intrahepatic Cholestasis 22
 
Cholestasis, Progressive Familial Intrahepatic 3 65


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 intrahepatic cholestasis. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ABCB4 (ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4), and among its related pathways are Hepatic ABC Transporters and ABC-family proteins mediated transport. 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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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 Salts80
2LecithinNutraceutical57

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 Cholestasis22 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ABCB11, ABCB4, 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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Clinvar genetic disease variations for Low Gamma-Gt Familial Intrahepatic Cholestasis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)single nucleotide variantPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
2ABCB4NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)deletionPathogenicrs387906527GRCh37Chr 7, 87069002: 87069002
3ABCB4NM_018849.2(ABCB4): c.959C> T (p.Ser320Phe)single nucleotide variantPathogenicrs72552778GRCh37Chr 7, 87076396: 87076396

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3ABCB11, ABCB4
2
Show member pathways
9.3ABCB11, ABCB4
39.3ABCB11, ABCB4
49.3ABCB11, 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
1intercellular canaliculusGO:004658110.0ABCB11, ABCB4
2apical plasma membraneGO:00163248.7ABCB4, ATP8B1
3integral component of plasma membraneGO:00058878.5ABCB11, ABCB4, ATP8B1

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:00157219.6ABCB11, ATP8B1
2drug transmembrane transportGO:00068559.5ABCB4, ATP8B1
3phospholipid translocationGO:00453329.4ABCB4, ATP8B1
4bile acid metabolic processGO:00082068.8ABCB11, ATP8B1
5transmembrane transportGO:00550858.5ABCB11, ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426269.9ABCB11, ABCB4
2ATPase activityGO:00168879.5ABCB11, ABCB4
3ATP bindingGO:00055248.5ABCB11, ABCB4, ATP8B1

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet