Aliases & Classifications for Atp8b1 Deficiency

MalaCards integrated aliases for Atp8b1 Deficiency:

Name: Atp8b1 Deficiency 23
Progressive Intrahepatic Cholestasis 69
Fic1 Deficiency 23

Characteristics:

GeneReviews:

23
Penetrance Pathogenic variants underlying severe atp8b1 deficiency are likely fully penetrant; however, variable expressivity may be observed among sibs with the same pathogenic variant(s)...

Summaries for Atp8b1 Deficiency

MalaCards based summary : Atp8b1 Deficiency, also known as progressive intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic and cholestasis, progressive familial intrahepatic 1, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Atp8b1 Deficiency is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Synthesis of bile acids and bile salts and Bile secretion. The drugs Glycerol and 4-phenylbutyric acid have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and liver/biliary system

GeneReviews: NBK1297

Related Diseases for Atp8b1 Deficiency

Graphical network of the top 20 diseases related to Atp8b1 Deficiency:



Diseases related to Atp8b1 Deficiency

Symptoms & Phenotypes for Atp8b1 Deficiency

UMLS symptoms related to Atp8b1 Deficiency:


diarrhea, icterus, pruritus

GenomeRNAi Phenotypes related to Atp8b1 Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.17 ATP8B1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.17 ABCB11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.17 ATP8B1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.17 ABCB11 ATP8B1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.17 ATP8B1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.17 ABCB11

MGI Mouse Phenotypes related to Atp8b1 Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.8 ABCB11 ATP8B1 NR1H4

Drugs & Therapeutics for Atp8b1 Deficiency

Drugs for Atp8b1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational 56-81-5 753
2 4-phenylbutyric acid
3 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease Temporarily not available NCT02094222 RAVICTI

Search NIH Clinical Center for Atp8b1 Deficiency

Genetic Tests for Atp8b1 Deficiency

Anatomical Context for Atp8b1 Deficiency

Publications for Atp8b1 Deficiency

Articles related to Atp8b1 Deficiency:

id Title Authors Year
1
Hypothyroidism Associated with ATP8B1 Deficiency. ( 26382629 )
2015
2
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. ( 19027009 )
2009
3
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. ( 16799980 )
2006

Variations for Atp8b1 Deficiency

Expression for Atp8b1 Deficiency

Search GEO for disease gene expression data for Atp8b1 Deficiency.

Pathways for Atp8b1 Deficiency

GO Terms for Atp8b1 Deficiency

Biological processes related to Atp8b1 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 bile acid metabolic process GO:0008206 8.96 ATP8B1 NR1H4
2 bile acid and bile salt transport GO:0015721 8.8 ABCB11 ATP8B1 NR1H4

Sources for Atp8b1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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