Aliases & Classifications for Atp8b1 Deficiency

MalaCards integrated aliases for Atp8b1 Deficiency:

Name: Atp8b1 Deficiency 24
Progressive Intrahepatic Cholestasis 73
Fic1 Deficiency 24

Characteristics:

GeneReviews:

24
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 73 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 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 Pharmaceutical Solutions and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, and 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:


diarrhea, icterus, pruritus

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

26
# 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:

46
# 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 Hypolipidemic Agents Phase 1
6 Anticholesteremic Agents Phase 1
7 Lipid Regulating Agents Phase 1
8 Antimetabolites Phase 1
9 Cola Nutraceutical Phase 1
10
Pancrelipase Approved, Investigational 53608-75-6
11
Iron Approved 7439-89-6 23925
12
Glycerol Approved, Investigational 56-81-5 753
13 pancreatin
14 Alpha 1-Antitrypsin
15 Estrogens
16 Protein C Inhibitor
17
Bilirubin 635-65-4 5280352
18 Gastrointestinal Agents
19 Hematinics
20 4-phenylbutyric acid
21 Protective Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC 1 or 2 Recruiting NCT03566238 Phase 3 A4250;Placebo
2 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
3 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
4 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
5 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
6 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
7 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
8 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
9 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
10 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
11 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
12 Buphenyl Therapy for Byler's Disease No longer available NCT01784718 Buphenyl
13 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
14 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

MalaCards organs/tissues related to Atp8b1 Deficiency:

41
Liver

Publications for Atp8b1 Deficiency

Articles related to Atp8b1 Deficiency:

(show all 13)
# Title Authors Year
1
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low I^-glutamyltransferase. ( 29316097 )
2018
2
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages. ( 29104077 )
2018
3
Hypothyroidism Associated with ATP8B1 Deficiency. ( 26382629 )
2015
4
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. ( 21603342 )
2011
5
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase. ( 19845854 )
2010
6
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. ( 20038848 )
2010
7
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. ( 19027009 )
2009
8
Adult progressive intrahepatic cholestasis associated with genetic variations in ATP8B1 and ABCB11. ( 19260995 )
2009
9
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. ( 16799980 )
2006
10
Progressive intrahepatic cholestasis: mechanisms, diagnosis and therapy. ( 15598335 )
2004
11
The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. ( 11067870 )
2000
12
A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. ( 7915305 )
1994
13
Increased cholesterol and decreased fluidity of red cell membranes (spur cell anemia) in progressive intrahepatic cholestasis. ( 7254967 )
1981

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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