MCID: LWG002
MIFTS: 20

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Genetic diseases (common) category

Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

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MalaCards: Low Gamma-Gt Familial Intrahepatic Cholestasis, also known as progressive intrahepatic cholestasis, is related to benign recurrent intrahepatic cholestasis and intrahepatic cholestasis. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1). The compounds taurocholate and lipid have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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21GeneTests, 63UMLS
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

low gamma-gt familial intrahepatic cholestasis 21
progressive intrahepatic cholestasis 63


Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

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18GeneCards, 19GeneDecks
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Diseases related to Low Gamma-Gt Familial Intrahepatic Cholestasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1benign recurrent intrahepatic cholestasis30.7ABCB11, ATP8B1
2intrahepatic cholestasis30.7ABCB11, ATP8B1
3cholestasis30.6ABCB11, ATP8B1
4cholestasis, progressive familial intrahepatic 210.0ABCB11, ATP8B1
5cholestasis, progressive familial intrahepatic 310.0ABCB11, ATP8B1
6cholestasis, progressive familial intrahepatic 110.0ABCB11, ATP8B1
7galactosemia10.0ABCB11, ATP8B1

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Low Gamma-Gt Familial Intrahepatic Cholestasis

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21GeneTests
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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 Cholestasis21 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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38MGI
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MGI Mouse Phenotypes related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1ATP8B1, ABCB11

Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Low Gamma-Gt Familial Intrahepatic Cholestasis:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATP8B1NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter)single nucleotide variantPathogenicrs515726137GRCh37Chr 18, 55336654: 55336654
2ATP8B1NM_005603.4(ATP8B1): c.625C> A (p.Pro209Thr)single nucleotide variantPathogenicrs515726138GRCh38Chr 18, 57697797: 57697797
3ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)single nucleotide variantPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
4NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)single nucleotide variantPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
5ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)single nucleotide variantPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
6ATP8B1NM_005603.4(ATP8B1): c.2097+2T> Csingle nucleotide variantPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
7ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
8ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
9ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)single nucleotide variantPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
10ATP8B1NM_005603.4(ATP8B1): c.1804C> T (p.Arg602Ter)single nucleotide variantPathogenicrs121909105GRCh37Chr 18, 55342081: 55342081

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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

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

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46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1taurocholate469.1ATP8B1, ABCB11
2lipid469.1ATP8B1, ABCB11
3cholesterol46 30 25 1212.0ATP8B1, ABCB11
4Adenosine triphosphate25 129.8ATP8B1, ABCB11

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

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17Gene Ontology
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Cellular components related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058879.1ATP8B1, ABCB11
2apical plasma membraneGO:0163248.8ATP8B1, ABCB11

Biological processes related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550859.1ATP8B1, ABCB11
2bile acid and bile salt transportGO:0157219.0ATP8B1, ABCB11
3bile acid metabolic processGO:0082068.8ATP8B1, ABCB11

Molecular functions related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1ATP8B1, ABCB11

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

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Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet