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 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, 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:

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

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:

41
Liver

Publications for Atp8b1 Deficiency

Articles related to Atp8b1 Deficiency:

(show all 20)
# 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
Dual catenin loss in murine liver causes tight junctional deregulation and progressive intrahepatic cholestasis. ( 29023813 )
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 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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