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)...

External Ids:

UMLS 69 C0268312

Summaries for Atp8b1 Deficiency

MalaCards based summary : Atp8b1 Deficiency, also known as progressive intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic, 1 and cholestasis, progressive familial intrahepatic, 1, and has symptoms including pruritus, icterus and diarrhea. 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 Pharmaceutical Solutions and Liver Extracts have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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:


pruritus, icterus, diarrhea

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

25
# 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 ATP8B1 ABCB11
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:

43
# 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):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Liver Extracts Phase 2
3 Bile Acids and Salts Phase 2
4 Cholestyramine Resin Phase 1
5 Anticholesteremic Agents Phase 1
6 Hypolipidemic Agents Phase 1
7 Antimetabolites Phase 1
8 Lipid Regulating Agents Phase 1
9 Cola Nutraceutical Phase 1
10
Iron Approved 7439-89-6 23925
11
Pancrelipase Approved, Investigational 53608-75-6
12
Glycerol Approved, Investigational 56-81-5 753
13 Estrogens
14 pancreatin
15
Bilirubin 635-65-4 5280352
16 Gastrointestinal Agents
17 Alpha 1-Antitrypsin
18 Hematinics
19 Protein C Inhibitor
20 4-phenylbutyric acid
21 Protective Agents

Interventional clinical trials:

(show all 13)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Not yet recruiting NCT03353454 Phase 3 Maralixibat;Placebo
2 Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis Active, not recruiting NCT02057718 Phase 2 LUM001
3 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
4 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
5 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
6 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
7 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
8 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
9 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
10 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
11 Buphenyl Therapy for Byler's Disease No longer available NCT01784718 Buphenyl
12 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
13 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:

# Title Authors Year
1
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages. ( 29104077 )
2018
2
Hypothyroidism Associated with ATP8B1 Deficiency. ( 26382629 )
2015
3
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. ( 19027009 )
2009
4
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....