MCID: LWG002
MIFTS: 24

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Category: Genetic diseases (common)

Aliases & Classifications for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section

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

Name: Low Gamma-Gt Familial Intrahepatic Cholestasis 24 26
Low Gamma-Glutamyltranspeptidase Familial Intrahepatic Cholestasis 24
 
Cholestasis, Progressive Familial Intrahepatic 3 67

Classifications:



Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section
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 ABCB4 (ATP Binding Cassette Subfamily B Member 4), and among its related pathways are Hepatic ABC Transporters and Bile secretion. Related mouse phenotype liver/biliary system.

Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section

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

About this section

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


diarrhea, hepatomegaly, pruritus

Drugs & Therapeutics for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and Salts102
2Gastrointestinal Agents8109
3LecithinNutraceutical70

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

About this section

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

id Genetic test Affiliating Genes
1 Low Gamma-Gt Familial Intrahepatic Cholestasis26 24 ATP8B1

Anatomical Context for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section

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

About this section

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ABCB11, ABCB4, ATP8B1

Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section

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

About this section

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.394_400delTATATAC (p.Tyr132Lysfs)deletionPathogenicrs387906526GRCh37Chr 7, 87082396: 87082402
2ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)SNVPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
3ABCB4NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)deletionPathogenicrs387906527GRCh37Chr 7, 87069002: 87069002
4ABCB4NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe)SNVPathogenicrs72552778GRCh37Chr 7, 87076396: 87076396
5ABCB4NM_018849.2(ABCB4): c.2169dupG (p.Leu724Alafs)duplicationPathogenicrs387906529GRCh37Chr 7, 87053264: 87053264
6ABCB4NM_018849.2(ABCB4): c.1207T> C (p.Tyr403His)SNVPathogenicrs121918443GRCh37Chr 7, 87073002: 87073002
7ABCB4NM_018849.2(ABCB4): c.2211+1G> ASNVPathogenicrs794727183GRCh37Chr 7, 87053221: 87053221
8ABCB4NM_018849.2(ABCB4): c.2833C> T (p.Gln945Ter)SNVPathogenicrs886042562GRCh37Chr 7, 87041300: 87041300
9ABCB4NM_018849.2(ABCB4): c.2626A> T (p.Lys876Ter)SNVPathogenicrs886043725GRCh37Chr 7, 87046684: 87046684
10ABCB4NM_018849.2(ABCB4): c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer)indelPathogenicrs886043734GRCh37Chr 7, 87046684: 87046685

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

About this section
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

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3ABCB11, ABCB4
29.3ABCB11, ABCB4
39.3ABCB11, ABCB4

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:00465819.6ABCB11, ABCB4
2apical plasma membraneGO:00163249.3ABCB4, ATP8B1
3integral component of plasma membraneGO:00058878.5ABCB11, ABCB4, ATP8B1
4membraneGO:00160208.2ABCB11, 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:00157219.7ABCB11, ATP8B1
2drug transmembrane transportGO:00068559.6ABCB4, ATP8B1
3phospholipid translocationGO:00453329.6ABCB4, ATP8B1
4transportGO:00068109.3ABCB11, ABCB4

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055248.5ABCB11, ABCB4, ATP8B1

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet