BRIC1
MCID: CHL134
MIFTS: 54

Cholestasis, Benign Recurrent Intrahepatic, 1 (BRIC1)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 1

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 1:

Name: Cholestasis, Benign Recurrent Intrahepatic, 1 58 76
Benign Recurrent Intrahepatic Cholestasis 12 54 26 60 38 15 74
Bric1 58 12 54 60 76
Summerskill Syndrome 58 12 54 76
Bric 12 54 26 60
Cholestasis, Benign Recurrent Intrahepatic 1 54 30 6
Benign Recurrent Intrahepatic Cholestasis 1 12 54 15
Cholestasis, Benign Recurrent Intrahepatic 58 13 56
Summerskill-Walshe-Tygstrup Syndrome 12 54 60
Low Gamma-Gt Familial Intrahepatic Cholestasis 26 30
Recurrent Familial Intrahepatic Cholestasis 26 76
Bric Type 1 12 60
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 41
Cholestasis, Progressive Familial Intrahepatic 3 74
Benign Recurrent Intrahepatic Cholestasis Type 1 60
Recurrent Familial Intrahepatic Cholestasis 1 54
Abcb11-Related Intrahepatic Cholestasis 26
Atp8b1-Related Intrahepatic Cholestasis 26
Progressive Intrahepatic Cholestasis 74
Mild Atp8b1 Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
benign recurrent intrahepatic cholestasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to intrahepatic cholestasis of pregnancy (icp, )
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
variable age at onset, range from infancy to adulthood
variable frequency and severity
allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, )


HPO:

33
cholestasis, benign recurrent intrahepatic, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis, Benign Recurrent Intrahepatic, 1

NIH Rare Diseases : 54 Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. There are two forms of BRIC which are classified based on the genetic cause of the condition. BRIC1 is caused by changes (mutations) in the ATP8B1 gene and BRIC2 is caused by mutations in the ABCB11 gene. Both follow an autosomal recessive pattern of inheritance. Treatment of BRIC may include medications to manage symptoms and specialized therapies (i.e. nasobiliary drainage) to shorten episodes.

MalaCards based summary : Cholestasis, Benign Recurrent Intrahepatic, 1, also known as benign recurrent intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic, 2 and cholestasis, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Bile secretion and Cholesterol metabolism. The drugs Iron and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver and testes, and related phenotypes are fatigue and pruritus

Disease Ontology : 12 An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.

Genetics Home Reference : 26 Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.

OMIM : 58 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989). Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' (243300)

UniProtKB/Swiss-Prot : 76 Cholestasis, benign recurrent intrahepatic, 1: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 1

Diseases in the Progressive Familial Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 34.8 ABCB11 ATP8B1
2 cholestasis 31.2 ABCB11 ATP8B1 SLC10A2
3 progressive familial intrahepatic cholestasis 30.5 ABCB11 ATP8B1 SLC10A2
4 cholestasis, progressive familial intrahepatic, 2 30.3 ABCB11 ABCG5 ATP8B1
5 intrahepatic cholestasis of pregnancy 29.9 ABCB11 ATP8B1 SLC10A2 TMEM30A
6 cholestasis, progressive familial intrahepatic, 1 29.6 ABCB11 ABCG5 ABCG8 ATP11C ATP8B1 SLC10A2
7 atp8b1 deficiency 10.3 ABCB11 ATP8B1
8 cholestasis, progressive familial intrahepatic, 4 10.3 ABCB11 ATP8B1
9 gallbladder disease 4 10.2 ABCG5 ABCG8
10 bile duct disease 10.1 ABCB11 ATP8B1 SLC10A2
11 biliary tract disease 10.1 ABCB11 ATP8B1 SLC10A2
12 homozygous familial hypercholesterolemia 10.1 ABCG5 ABCG8
13 alagille syndrome 1 10.1 ABCB11 ATP8B1
14 aortic atherosclerosis 10.1 ABCG5 ABCG8
15 retinitis pigmentosa 10.1
16 leber congenital amaurosis 4 10.1
17 retinitis 10.1
18 hepatitis e 10.1
19 hepatitis 10.1
20 cholestasis, progressive familial intrahepatic, 3 10.0 ABCB11 ABCG8 ATP11C ATP8B1
21 hypercholesterolemia, familial 10.0 ABCG5 ABCG8 SLC10A2
22 amyotrophic lateral sclerosis 1 10.0
23 ovarian cancer 10.0
24 pulmonary fibrosis, idiopathic 10.0
25 ovarian cancer 1 10.0
26 brain injury 10.0
27 pulmonary fibrosis 10.0
28 lateral sclerosis 10.0
29 bronchiectasis 10.0
30 sitosterolemia 9.9 ABCG5 ABCG8

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 1:



Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 1

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 1

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 1:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
2 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
3 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
4 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
5 cholestatic liver disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0002611
6 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
7 anorexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002039
8 acholic stools 60 33 hallmark (90%) Very frequent (99-80%) HP:0011985
9 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
10 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
11 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
12 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
13 cholelithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001081
14 pancreatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001733
15 chronic diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002028
16 hepatocellular carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001402
17 hepatomegaly 33 HP:0002240
18 conjugated hyperbilirubinemia 33 HP:0002908
19 intermittent jaundice 33 HP:0001046
20 increased serum bile acid concentration 33 HP:0012202
21 intrahepatic cholestasis with episodic jaundice 33 HP:0006575

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatomegaly
intrahepatic cholestasis, episodic, recurrent
jaundice, episodic
progression to end-stage liver disease does not occur

Laboratory Abnormalities:
conjugated hyperbilirubinemia
normal or mildly increased serum gamma-ggt
increased serum bile acids

Abdomen Pancreas:
pancreatitis

Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic

Clinical features from OMIM:

243300

UMLS symptoms related to Cholestasis, Benign Recurrent Intrahepatic, 1:


pruritus, diarrhea, icterus

GenomeRNAi Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 1 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 9.32 ATP8B1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.32 ABCB11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.32 ATP8B1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.32 ABCB11 ATP8B1 BACH2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.32 ATP8B1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.32 ABCB11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.32 BACH2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.32 BACH2

MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ABCB11 ABCG5 ABCG8 ATP11C ATP8B1 BACH2
2 liver/biliary system MP:0005370 9.17 ABCB11 ABCG5 ABCG8 ATP8B1 CUL3 SLC10A2

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 1

Drugs for Cholestasis, Benign Recurrent Intrahepatic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental 7439-89-6, 15438-31-0 27284 23925
2 Bile Acids and Salts
3 Liver Extracts
4 Alpha 1-Antitrypsin
5 Protein C Inhibitor
6
Bilirubin 635-65-4, 69853-43-6 21252250 5280352
7 Hematinics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
2 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care

Search NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 1

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 1

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 1:

# Genetic test Affiliating Genes
1 Cholestasis, Benign Recurrent Intrahepatic 1 30 ATP8B1
2 Low Gamma-Gt Familial Intrahepatic Cholestasis 30

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 1

MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 1:

42
Liver, Testes

Publications for Cholestasis, Benign Recurrent Intrahepatic, 1

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 1:

(show top 50) (show all 81)
# Title Authors Year
1
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. ( 30899697 )
2019
2
Percutaneous transgastral biliodigestive diversion as treatment option for benign recurrent intrahepatic cholestasis. ( 30339724 )
2019
3
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. ( 29191380 )
2018
4
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. ( 29404523 )
2018
5
Endoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC). ( 28476903 )
2017
6
Benign Recurrent Intrahepatic Cholestasis in a Young Adult. ( 27504332 )
2016
7
Nasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy. ( 27917812 )
2016
8
Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ( 26223708 )
2016
9
Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis. ( 25565657 )
2015
10
Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis. ( 24164717 )
2014
11
Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis. ( 24342334 )
2013
12
Endoscopic nasobiliary drainage improves jaundice attack symptoms in benign recurrent intrahepatic cholestasis: A case report. ( 23403701 )
2013
13
Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. ( 23402083 )
2012
14
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. ( 22229830 )
2012
15
A case report: nasobiliary drainage inducing remission in benign recurrent intrahepatic cholestasis. ( 22505385 )
2012
16
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. ( 21766090 )
2011
17
Benign recurrent intrahepatic cholestasis: late initial diagnosis in adulthood. ( 20526019 )
2010
18
Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future? ( 20537422 )
2010
19
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. ( 20955958 )
2010
20
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. ( 19731236 )
2009
21
Successfully treated intractable pruritus with rifampin in a case of benign recurrent intrahepatic cholestasis. ( 26193696 )
2008
22
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. ( 18379143 )
2008
23
Benign recurrent intrahepatic cholestasis (BRIC) in an adult. ( 18416353 )
2007
24
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. ( 17592371 )
2007
25
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. ( 16374853 )
2006
26
Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. ( 16394881 )
2006
27
Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. ( 16736228 )
2006
28
Benign recurrent intrahepatic cholestasis. ( 16186684 )
2005
29
Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. ( 15827452 )
2005
30
Benign recurrent intrahepatic cholestasis. ( 15062197 )
2004
31
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. ( 15239083 )
2004
32
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )
2004
33
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. ( 15341767 )
2004
34
Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC). ( 12220310 )
2002
35
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. ( 11867191 )
2002
36
Successful clinical application of extracorporal albumin dialysis in a patient with benign recurrent intrahepatic cholestasis (BRIC). ( 16215886 )
2001
37
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. ( 11146465 )
2000
38
Benign recurrent intrahepatic cholestasis. ( 11291237 )
1999
39
Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. ( 9918928 )
1999
40
Benign recurrent intrahepatic cholestasis in a Saudi child. ( 10690264 )
1999
41
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. ( 9500542 )
1998
42
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. ( 9272159 )
1997
43
Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report. ( 9272324 )
1997
44
Benign recurrent intrahepatic cholestasis. ( 9170826 )
1997
45
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. ( 8855752 )
1996
46
Benign recurrent intrahepatic cholestasis and Byler's disease: one gene, two diseases? ( 8895021 )
1996
47
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. ( 7655458 )
1995
48
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. ( 7677155 )
1995
49
Benign recurrent intrahepatic cholestasis. Some reflections on a case followed for 20 years. ( 8539477 )
1995
50
Benign recurrent intrahepatic cholestasis. ( 8772982 )
1995

Variations for Cholestasis, Benign Recurrent Intrahepatic, 1

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 1:

76
# Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Ile661Thr VAR_008812 rs121909100
2 ATP8B1 p.Gly892Arg VAR_008813 rs121909098
3 ATP8B1 p.Gly308Asp VAR_043049 rs111033609
4 ATP8B1 p.Ile344Phe VAR_043050 rs140665115
5 ATP8B1 p.Ser453Tyr VAR_043056
6 ATP8B1 p.Asp454Gly VAR_043057
7 ATP8B1 p.Arg600Gln VAR_043063 rs120268216
8 ATP8B1 p.Arg600Trp VAR_043064 rs780186596
9 ATP8B1 p.Arg628Trp VAR_043065 rs752045131
10 ATP8B1 p.Ile694Thr VAR_043068 rs541474497

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh37 Chromosome 18, 55336665: 55336665
2 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh38 Chromosome 18, 57669433: 57669433
3 ATP8B1 ATP8B1, 9-BP DEL, NT2384 deletion Pathogenic
4 ATP8B1 ATP8B1, IVS23AS, C-A, -3 single nucleotide variant Pathogenic
5 ATP8B1 NM_005603.6(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh37 Chromosome 18, 55373793: 55373793
6 ATP8B1 NM_005603.6(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh38 Chromosome 18, 57706561: 57706561
7 ATP8B1 NM_005603.6(ATP8B1): c.2546G> A (p.Arg849Gln) single nucleotide variant Uncertain significance rs144656719 GRCh37 Chromosome 18, 55328567: 55328567
8 ATP8B1 NM_005603.6(ATP8B1): c.2546G> A (p.Arg849Gln) single nucleotide variant Uncertain significance rs144656719 GRCh38 Chromosome 18, 57661335: 57661335
9 ATP8B1 NM_005603.6(ATP8B1): c.1981A> G (p.Ile661Val) single nucleotide variant Uncertain significance rs1555689790 GRCh37 Chromosome 18, 55336666: 55336666
10 ATP8B1 NM_005603.6(ATP8B1): c.1981A> G (p.Ile661Val) single nucleotide variant Uncertain significance rs1555689790 GRCh38 Chromosome 18, 57669434: 57669434
11 ATP8B1 NM_005603.6(ATP8B1): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic rs1202682161 GRCh37 Chromosome 18, 55342086: 55342086
12 ATP8B1 NM_005603.6(ATP8B1): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic rs1202682161 GRCh38 Chromosome 18, 57674854: 57674854

Expression for Cholestasis, Benign Recurrent Intrahepatic, 1

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 1.

Pathways for Cholestasis, Benign Recurrent Intrahepatic, 1

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to KEGG:

38
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Cholesterol metabolism hsa04979

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.2 ABCB11 ABCG5 ABCG8
2
Show member pathways
11.02 CUL3 KLHL13
3
Show member pathways
10.97 ABCG5 ABCG8
4 10.9 ABCG5 ABCG8
5 10.78 ABCB11 ABCG5 ABCG8 SLC10A2
6 10.7 ABCB11 ABCG5

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 1

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cul3-RING ubiquitin ligase complex GO:0031463 9.16 CUL3 KLHL13
2 apical plasma membrane GO:0016324 9.02 ABCG5 ABCG8 ATP8B1 SLC10A2 TMEM30A
3 ATP-binding cassette (ABC) transporter complex GO:0043190 8.96 ABCG5 ABCG8

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.81 ABCB11 ABCG5 ABCG8 SLC10A2
2 bile acid and bile salt transport GO:0015721 9.5 ABCB11 ATP8B1 SLC10A2
3 excretion GO:0007588 9.49 ABCG5 ABCG8
4 cholesterol efflux GO:0033344 9.48 ABCG5 ABCG8
5 intestinal cholesterol absorption GO:0030299 9.46 ABCG5 ABCG8
6 phospholipid transport GO:0015914 9.46 ABCG8 ATP11C ATP8B1 TMEM30A
7 aminophospholipid transport GO:0015917 9.43 ATP8B1 TMEM30A
8 phospholipid translocation GO:0045332 9.43 ATP11C ATP8B1 TMEM30A
9 negative regulation of intestinal cholesterol absorption GO:0045796 9.4 ABCG5 ABCG8
10 negative regulation of intestinal phytosterol absorption GO:0010949 9.37 ABCG5 ABCG8
11 lipid transport GO:0006869 9.35 ABCG5 ABCG8 ATP11C ATP8B1 TMEM30A
12 drug transmembrane transport GO:0006855 8.62 ATP8B1 TMEM30A

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.5 ABCB11 ABCG5 ABCG8
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.33 ABCB11 ABCG5 ABCG8
3 cholesterol transporter activity GO:0017127 9.26 ABCG5 ABCG8
4 aminophospholipid transmembrane transporter activity GO:0015247 8.96 ATP8B1 TMEM30A
5 phospholipid-translocating ATPase activity GO:0004012 8.8 ATP11C ATP8B1 TMEM30A

Sources for Cholestasis, Benign Recurrent Intrahepatic, 1

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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