Aliases & Classifications for Atp8b1 Deficiency

MalaCards integrated aliases for Atp8b1 Deficiency:

Name: Atp8b1 Deficiency 25
Progressive Intrahepatic Cholestasis 70
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 70 C0268312

Summaries for Atp8b1 Deficiency

MalaCards based summary : Atp8b1 Deficiency, also known as progressive intrahepatic cholestasis, is related to cholestasis, progressive familial intrahepatic, 1 and cholestasis, benign recurrent 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. Affiliated tissues include liver, bone marrow and small intestine, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

GeneReviews: NBK1297

Related Diseases for Atp8b1 Deficiency

Diseases related to Atp8b1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 1 30.9 NR1H4 ATP8B1 ABCB11
2 cholestasis, benign recurrent intrahepatic, 1 30.9 NR1H4 ATP8B1 ABCB11
3 cholestasis 29.8 NR1H4 ATP8B1 ABCB11
4 familial intrahepatic cholestasis 29.6 NR1H4 ATP8B1 ABCB11
5 progressive familial intrahepatic cholestasis 29.6 NR1H4 ATP8B1 ABCB11
6 intrahepatic cholestasis of pregnancy 29.1 NR1H4 ATP8B1 ABCB11
7 liver disease 29.1 NR1H4 ATP8B1 ABCB11
8 hypercholesterolemia, familial, 1 10.0
9 rapidly involuting congenital hemangioma 10.0
10 vitamin k deficiency bleeding 9.9
11 hypothyroidism 9.9
12 heart defects, congenital, and other congenital anomalies 9.8 NR1H4 ABCB11
13 bile acid synthesis defect, congenital, 2 9.8 NR1H4 ABCB11
14 extrahepatic cholestasis 9.8 NR1H4 ABCB11
15 bile duct cysts 9.7 ATP8B1 ABCB11
16 sclerosing cholangitis 9.7 NR1H4 ABCB11
17 dubin-johnson syndrome 9.7 ATP8B1 ABCB11
18 cholangitis 9.7 NR1H4 ABCB11
19 alagille syndrome 1 9.7 ATP8B1 ABCB11
20 sitosterolemia 9.7 ATP8B1 ABCB11
21 cholangitis, primary sclerosing 9.7 NR1H4 ABCB11
22 gallbladder disease 9.6 NR1H4 ABCB11
23 primary biliary cholangitis 9.6 NR1H4 ABCB11
24 cholestasis, progressive familial intrahepatic, 5 9.5 NR1H4 ATP8B1 ABCB11
25 cholestasis, progressive familial intrahepatic, 4 9.5 NR1H4 ATP8B1 ABCB11
26 cholestasis, benign recurrent intrahepatic, 2 9.5 NR1H4 ATP8B1 ABCB11
27 cholestasis, progressive familial intrahepatic, 3 9.5 NR1H4 ATP8B1 ABCB11
28 cholestasis, progressive familial intrahepatic, 2 9.5 NR1H4 ATP8B1 ABCB11
29 cholestasis, intrahepatic, of pregnancy, 1 9.5 NR1H4 ATP8B1 ABCB11
30 biliary atresia 9.5 NR1H4 ATP8B1 ABCB11
31 bile duct disease 9.5 NR1H4 ATP8B1 ABCB11
32 non-alcoholic fatty liver disease 9.5 NR1H4 ABCB11
33 biliary tract disease 9.5 NR1H4 ATP8B1 ABCB11
34 bilirubin metabolic disorder 9.5 NR1H4 ATP8B1 ABCB11

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.23 ATP8B1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.23 ATP8B1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.23 ABCB11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.23 ATP8B1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.23 ABCB11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.23 ABCB11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.23 ATP8B1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.23 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

Search Clinical Trials , NIH Clinical Center for Atp8b1 Deficiency

Genetic Tests for Atp8b1 Deficiency

Anatomical Context for Atp8b1 Deficiency

MalaCards organs/tissues related to Atp8b1 Deficiency:

40
Liver, Bone Marrow, Small Intestine, Appendix

Publications for Atp8b1 Deficiency

Articles related to Atp8b1 Deficiency:

(show top 50) (show all 177)
# Title Authors PMID Year
1
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 25 6
18395098 2008
2
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 6 25
15239083 2004
3
Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. 6 25
14988830 2004
4
Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. 25 6
12149765 2002
5
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. 6
29973134 2018
6
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1. 6
25022842 2014
7
A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells. 61 25
20512993 2010
8
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. 61 25
20038848 2010
9
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. 61 25
19918981 2010
10
De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. 61 25
19642168 2009
11
ATP8B1 is essential for maintaining normal hearing. 61 25
19478059 2009
12
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. 61 25
19027009 2009
13
Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. 25 61
18466903 2008
14
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. 6
17855769 2007
15
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. 61 25
16799980 2006
16
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 6
9806540 1998
17
Bile acid profiles in siblings with progressive intrahepatic cholestasis: absence of biliary chenodeoxycholate. 61 25
3981365 1985
18
Mutations in TJP2 cause progressive cholestatic liver disease. 25
24614073 2014
19
Phospholipase D2 mediates signaling by ATPase class I type 8B membrane 1. 25
23213138 2013
20
Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child. 25
21672103 2012
21
Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment. 25
22525741 2012
22
Long-term therapy of a patient with summerskill-walshe-tygstrup syndrome by applying prometheus® liver dialysis: a case report. 25
22949896 2012
23
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. 25
22089923 2012
24
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. 25
22229830 2012
25
A case report: nasobiliary drainage inducing remission in benign recurrent intrahepatic cholestasis. 25
22505385 2012
26
Progressive familial intrahepatic cholestasis: a single-center experience of living-donor liver transplantation during two decades in Japan. 25
21158920 2011
27
Button cholecystostomy for management of progressive familial intrahepatic cholestasis syndromes. 25
21292078 2011
28
Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. 25
20800306 2010
29
Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia. 25
20852622 2010
30
Analysis of gene mutations in children with cholestasis of undefined etiology. 25
20683201 2010
31
Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future? 25
20537422 2010
32
Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease). 25
20583290 2010
33
Differences in presentation and progression between severe FIC1 and BSEP deficiencies. 25
20447715 2010
34
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. 25
20232290 2010
35
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. 25
20216097 2010
36
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 25
20190753 2010
37
Recurrence of bile salt export pump deficiency after liver transplantation. 25
19797282 2009
38
Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: a case report. 25
18785905 2009
39
Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. 25
19479804 2009
40
Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. 25
19228886 2009
41
Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasis-1 deficiency manifesting progressive familial intrahepatic cholestasis. 25
19059530 2009
42
The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. 25
18668687 2008
43
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 25
18724368 2008
44
Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. 25
18937870 2008
45
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. 25
18379143 2008
46
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. 25
17706492 2007
47
Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis. 25
17592371 2007
48
Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. 25
17452236 2007
49
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. 25
17187437 2007
50
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. 25
16871584 2006

Variations for Atp8b1 Deficiency

ClinVar genetic disease variations for Atp8b1 Deficiency:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP8B1 NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) Microsatellite Pathogenic 918158 GRCh37: 18:55351309-55351311
GRCh38: 18:57684077-57684079
2 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) SNV Pathogenic 6590 rs11568372 GRCh37: 2:169847329-169847329
GRCh38: 2:168990819-168990819
3 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) SNV Uncertain significance 327475 rs199716374 GRCh37: 18:55328476-55328476
GRCh38: 18:57661244-57661244
4 ABCB11 NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) SNV Uncertain significance 332024 rs200857579 GRCh37: 2:169791916-169791916
GRCh38: 2:168935406-168935406
5 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.3450C>T (p.Ile1150=) SNV Uncertain significance 327469 rs886054009 GRCh37: 18:55317680-55317680
GRCh38: 18:57650448-57650448
6 ABCB11 NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) SNV Uncertain significance 332032 rs886055066 GRCh37: 2:169826665-169826665
GRCh38: 2:168970155-168970155
7 ATP8B1 NM_005603.6(ATP8B1):c.2052C>T (p.Asp684=) SNV Uncertain significance 327482 rs370484798 GRCh37: 18:55336595-55336595
GRCh38: 18:57669363-57669363
8 ABCB11 NM_003742.4(ABCB11):c.*193G>C SNV Uncertain significance 332019 rs886055061 GRCh37: 2:169779939-169779939
GRCh38: 2:168923429-168923429
9 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-28dup Duplication Likely benign 327477 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
10 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-26dup Duplication Likely benign 327479 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
11 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-24dup Duplication Likely benign 327481 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
12 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-27dup Duplication Benign 327478 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
13 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-25dup Duplication Benign 327480 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
14 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.*2015del Deletion Benign 327438 rs35833803 GRCh37: 18:55313705-55313705
GRCh38: 18:57646473-57646473

Expression for Atp8b1 Deficiency

Search GEO for disease gene expression data for Atp8b1 Deficiency.

Pathways for Atp8b1 Deficiency

GO Terms for Atp8b1 Deficiency

Cellular components related to Atp8b1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 ATP8B1 ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.26 NR1H4 ABCB11
2 drug transmembrane transport GO:0006855 9.16 ATP8B1 ABCB11
3 bile acid and bile salt transport GO:0015721 9.13 NR1H4 ATP8B1 ABCB11
4 bile acid metabolic process GO:0008206 8.8 NR1H4 ATP8B1 ABCB11

Sources for Atp8b1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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