Aliases & Classifications for Atp8b1 Deficiency

MalaCards integrated aliases for Atp8b1 Deficiency:

Name: Atp8b1 Deficiency 25
Progressive Intrahepatic Cholestasis 74
Fic1 Deficiency 25

Characteristics:

GeneReviews:

25
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 74 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, diarrhea and icterus. 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 Liver Extracts and Pharmaceutical Solutions 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:


pruritus, diarrhea, icterus

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

27
# 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:

47
# 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3,Phase 2
2 Pharmaceutical Solutions Phase 3
3 Bile Acids and Salts Phase 2
4 Cola Phase 1
5 Anticholesteremic Agents Phase 1
6 Lipid Regulating Agents Phase 1
7 Cholestyramine Resin Phase 1
8 Antimetabolites Phase 1
9 Hypolipidemic Agents Phase 1
10
Pancrelipase Approved, Investigational 53608-75-6
11
Iron Approved, Experimental 7439-89-6, 15438-31-0 27284 23925
12 Estrogens
13 pancreatin
14 Protein C Inhibitor
15 Alpha 1-Antitrypsin
16 Gastrointestinal Agents
17
Bilirubin 635-65-4, 69853-43-6 21252250 5280352
18 Hematinics

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC Types 1 & 2 Recruiting NCT03659916 Phase 3 A4250
2 This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC 1 or 2 Recruiting NCT03566238 Phase 3 A4250 (odevixibat);Placebo
3 A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC) Not yet recruiting NCT03905330 Phase 3 Maralixibat
4 A Placebo-controlled Study of Maralixibat (SHP625) in Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Withdrawn NCT03353454 Phase 3 Maralixibat;Placebo
5 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
6 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
7 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
8 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
9 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
10 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
11 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
12 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
13 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
14 NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion Enrolling by invitation NCT03930810

Search NIH Clinical Center for Atp8b1 Deficiency

Genetic Tests for Atp8b1 Deficiency

Anatomical Context for Atp8b1 Deficiency

MalaCards organs/tissues related to Atp8b1 Deficiency:

42
Liver

Publications for Atp8b1 Deficiency

Articles related to Atp8b1 Deficiency:

(show all 20)
# Title Authors Year
1
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages. ( 29104077 )
2018
2
Dual catenin loss in murine liver causes tight junctional deregulation and progressive intrahepatic cholestasis. ( 29023813 )
2018
3
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ-glutamyltransferase. ( 29316097 )
2018
4
Hypothyroidism Associated with ATP8B1 Deficiency. ( 26382629 )
2015
5
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. ( 21603342 )
2011
6
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase. ( 19845854 )
2010
7
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. ( 20038848 )
2010
8
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. ( 19027009 )
2009
9
Adult progressive intrahepatic cholestasis associated with genetic variations in ATP8B1 and ABCB11. ( 19260995 )
2009
10
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. ( 16799980 )
2006
11
Progressive intrahepatic cholestasis: mechanisms, diagnosis and therapy. ( 15598335 )
2004
12
The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. ( 11067870 )
2000
13
A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. ( 7915305 )
1994
14
Neonatal sclerosing cholangitis in two siblings: a category of progressive intrahepatic cholestasis. ( 8271135 )
1993
15
Bile acid profiles in siblings with progressive intrahepatic cholestasis: absence of biliary chenodeoxycholate. ( 3981365 )
1985
16
Meconium peritonitis and increasing sweat chloride determinations in a case of familial progressive intrahepatic cholestasis. ( 7063288 )
1982
17
Increased cholesterol and decreased fluidity of red cell membranes (spur cell anemia) in progressive intrahepatic cholestasis. ( 7254967 )
1981
18
A study of inheritance in progressive intrahepatic cholestasis: hepatic excretory function in unaffected family members. ( 503649 )
1979
19
Progressive intrahepatic cholestasis of infancy and childhood. A clinicopathological study of patient surviving to the age of 18 years. ( 955355 )
1976
20
Progressive intrahepatic cholestasis (Byler's disease): case report. ( 1218817 )
1975

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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