MCID: LWG002
MIFTS: 20

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Genetic diseases (common) category
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Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

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MalaCards based summary: 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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Low Gamma-Gt Familial Intrahepatic Cholestasis, Aliases & Descriptions:

Name: Low Gamma-Gt Familial Intrahepatic Cholestasis 20
 
Progressive Intrahepatic Cholestasis 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

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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 cholestasis30.9ABCB11, ATP8B1
2intrahepatic cholestasis30.5ABCB11, ATP8B1
3cholestasis30.5ABCB11, ATP8B1
4cholestasis, progressive familial intrahepatic 29.9ABCB11, ATP8B1
5cholestasis, progressive familial intrahepatic 39.9ABCB11, ATP8B1
6cholestasis, progressive familial intrahepatic 19.9ABCB11, ATP8B1
7galactosemia9.9ABCB11, 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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Drug clinical trials:

Search ClinicalTrials for Low Gamma-Gt Familial Intrahepatic Cholestasis

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 Cholestasis20 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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1ATP8B1, ABCB11

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:

6
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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Expression patterns in normal tissues for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1taurocholate449.1ATP8B1, ABCB11
2lipid449.1ATP8B1, ABCB11
3cholesterol44 28 24 1112.0ATP8B1, ABCB11
4Adenosine triphosphate24 119.8ATP8B1, ABCB11

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/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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  • Antibodies
  • Proteins
  • Lysates

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet