BRIC1
MCID: CHL134
MIFTS: 56

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 57 74
Benign Recurrent Intrahepatic Cholestasis 12 53 25 59 37 15 72
Bric1 57 12 53 59 74
Summerskill Syndrome 57 12 53 74
Bric 12 53 25 59
Cholestasis, Benign Recurrent Intrahepatic 1 53 29 6
Benign Recurrent Intrahepatic Cholestasis 1 12 53 15
Cholestasis, Benign Recurrent Intrahepatic 57 13 55
Summerskill-Walshe-Tygstrup Syndrome 12 53 59
Low Gamma-Gt Familial Intrahepatic Cholestasis 25 29
Recurrent Familial Intrahepatic Cholestasis 25 74
Bric Type 1 12 59
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 40
Cholestasis, Progressive Familial Intrahepatic 3 72
Benign Recurrent Intrahepatic Cholestasis Type 1 59
Recurrent Familial Intrahepatic Cholestasis 1 53
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 72
Mild Atp8b1 Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
benign recurrent intrahepatic cholestasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
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:

32
cholestasis, benign recurrent intrahepatic, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070230 DOID:0070231
KEGG 37 H02192
MeSH 44 D002780
MESH via Orphanet 45 C535930
ICD10 via Orphanet 34 K83.1
UMLS via Orphanet 73 C0149841 C1855731
UMLS 72 C0149841 C0268312 C1855731 more

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 1

Genetics Home Reference : 25 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. The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis. BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types. This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.

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 Dopamine and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, 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.

NIH Rare Diseases : 53 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.

OMIM : 57 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)

KEGG : 37
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ATP8B1 and ABCB11 genes, which are the same as in progressive familial intrahepatic cholestasis 1 and 2 (PFIC1 and PFIC2), and probably in at least one other as yet unidentified gene. While PFIC starts in infancy or early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe and permanent form of PFIC.

UniProtKB/Swiss-Prot : 74 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 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 Progressive Familial Intrahepatic Cholestasis

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 35.1 ATP8B1 ABCB11
2 cholestasis 31.6 SLC10A2 ATP8B1 ABCB11
3 atp8b1 deficiency 30.8 ATP8B1 ABCB11
4 progressive familial intrahepatic cholestasis 30.7 SLC10A2 ATP8B1 ABCB11
5 intrahepatic cholestasis of pregnancy 30.5 SLC10A2 ATP8B1 ABCB11
6 cholestasis, progressive familial intrahepatic, 2 30.5 ATP8B1 ABCG5 ABCB11
7 biliary tract disease 30.4 SLC10A2 ATP8B1 ABCB11
8 cholestasis, progressive familial intrahepatic, 1 29.6 SLC10A2 ATP8B1 ATP11C ABCG8 ABCG5 ABCB11
9 liver disease 10.4
10 cholestasis, progressive familial intrahepatic, 4 10.4 ATP8B1 ABCB11
11 gallbladder disease 4 10.3 ABCG8 ABCG5
12 primary biliary cirrhosis 10.3
13 viral hepatitis 10.3
14 primary biliary cholangitis 10.3
15 bile duct disease 10.2 SLC10A2 ATP8B1 ABCB11
16 homozygous familial hypercholesterolemia 10.2 ABCG8 ABCG5
17 cholelithiasis 10.2
18 autosomal recessive disease 10.2
19 familial intrahepatic cholestasis 10.2
20 alagille syndrome 1 10.2 ATP8B1 ABCB11
21 bilirubin metabolic disorder 10.1
22 aortic atherosclerosis 10.1 ABCG8 ABCG5
23 ischemia 10.1
24 acquired immunodeficiency syndrome 10.1
25 brain injury 10.1
26 head injury 10.1
27 fibrosis of extraocular muscles, congenital, 1 10.1
28 hypercholesterolemia, familial, 1 10.1
29 cholestasis, intrahepatic, of pregnancy, 1 10.1
30 nephrolithiasis, calcium oxalate 10.1
31 retinitis pigmentosa 10.1
32 gallbladder disease 1 10.1
33 neuroretinitis 10.1
34 steatorrhea 10.1
35 alcoholic hepatitis 10.1
36 diarrhea 10.1
37 autoimmune hepatitis 10.1
38 hepatitis 10.1
39 retinitis 10.1
40 hepatitis e 10.1
41 pancreatitis 10.1
42 rapidly involuting congenital hemangioma 10.1
43 hepatitis a 10.1
44 amyotrophic lateral sclerosis 1 10.0
45 blood group--kell system 10.0
46 hepatocellular carcinoma 10.0
47 otitis media 10.0
48 ovarian cancer 10.0
49 pulmonary fibrosis, idiopathic 10.0
50 triiodothyronine receptor auxiliary protein 10.0

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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
4 elevated hepatic transaminase 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
5 cholestatic liver disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0002611
6 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
7 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
8 acholic stools 59 32 hallmark (90%) Very frequent (99-80%) HP:0011985
9 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
12 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
13 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
14 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
15 chronic diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002028
16 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
17 hepatomegaly 32 HP:0002240
18 conjugated hyperbilirubinemia 32 HP:0002908
19 intermittent jaundice 32 HP:0001046
20 increased serum bile acid concentration 32 HP:0012202
21 intrahepatic cholestasis with episodic jaundice 32 HP:0006575

Symptoms via clinical synopsis from OMIM:

57
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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Nicotine Approved 54-11-5 942 89594
3 Nutrients
4 Alpha 1-Antitrypsin
5 Liver Extracts
6 Bile Acids and Salts
7 Protein C Inhibitor
8 Neurotransmitter Agents
9 Cholinergic Agents
10 Central Nervous System Stimulants
11 Nicotinic Agonists
12 Autonomic Agents
13 Peripheral Nervous System Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Tolerance of RADIOEMBOLIZATION for Patients With Unresectable Intrahepatic Cholangiocarcinoma With Tumor Progression After First-line Therapy Terminated NCT01383746 Phase 1, Phase 2
2 A Randomised Controlled Trial of Benefit Finding in Caregivers: The Building Resources in Caregivers (BRiC) Study Protocol Completed NCT02444312
3 Specificity of Flavor-Nutrient Learning: An fMRI Experiment Completed NCT02624206
4 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis Recruiting NCT00571272
5 Circulating RNAs in Acute Heart Failure Recruiting NCT03345446
6 Self-activation of Reward-related Brain Regions in Individuals With and Without Nicotine Dependence Recruiting NCT03170258

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 29 ATP8B1
2 Low Gamma-Gt Familial Intrahepatic Cholestasis 29

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 1

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

41
Liver, Skin, Eye, Brain, Heart, Pancreas, Testes

Publications for Cholestasis, Benign Recurrent Intrahepatic, 1

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 1:

(show top 50) (show all 203)
# Title Authors PMID Year
1
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 38 8 71
9500542 1998
2
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. 38 8 71
7894490 1994
3
Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. 8 71
9918928 1999
4
Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands. 8 71
5807632 1969
5
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 38 71
15300568 2004
6
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 38 71
15239083 2004
7
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. 38 8
11146465 2000
8
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. 38 8
9272159 1997
9
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. 38 8
7677155 1995
10
Benign recurrent intrahepatic cholestasis. A report of 26 cases. 38 8
2794432 1989
11
Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. 38 8
3678736 1987
12
Benign recurrent intrahepatic cholestasis. 38 8
13976702 1963
13
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 71
16039748 2005
14
Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone. 8
15448432 2004
15
ATP8B1 Deficiency 71
20301474 2001
16
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 71
10579978 1999
17
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 71
9806540 1998
18
Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. 8
2884068 1986
19
Benign recurrent cholestasis. 8
4777519 1973
20
Intermittent possibly familial intrahepatic cholestatic jaundice. 8
13840084 1960
21
Benign recurrent intrahepatic "obstructive" jaundice. 8
13835689 1959
22
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 9 38
20422495 2010
23
Progressive familial intrahepatic cholestasis type 1. 9 38
20422494 2010
24
Strain background modifies phenotypes in the ATP8B1-deficient mouse. 9 38
20126555 2010
25
The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. 9 38
18668687 2008
26
ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. 9 38
17948906 2008
27
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 9 38
15888793 2005
28
Taurocholate transport by hepatic and intestinal bile acid transporters is independent of FIC1 overexpression in Madin-Darby canine kidney cells. 9 38
15209631 2004
29
Progressive familial intrahepatic cholestasis. 9 38
12596388 2002
30
A missense mutation in FIC1 is associated with greenland familial cholestasis. 9 38
11093741 2000
31
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 38
31015375 2019
32
A rare cause of a cholestatic jaundice in a North African teenager. 38
31021034 2019
33
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. 38
30899697 2019
34
Percutaneous transgastral biliodigestive diversion as treatment option for benign recurrent intrahepatic cholestasis. 38
30339724 2019
35
[Clinical and pathological features of inherited metabolic liver disease in adults]. 38
30669779 2018
36
[Clinical characteristics and diagnosis of patients with benign recurrent intrahepatic cholestasis]. 38
30317764 2018
37
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. 38
29507376 2018
38
Genetic determinants of cholangiopathies: Molecular and systems genetics. 38
28757171 2018
39
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. 38
29191380 2018
40
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. 38
29404523 2018
41
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. 38
30148122 2018
42
Genetic Testing in Liver Disease: What to Order, in Whom, and When. 38
28987255 2017
43
Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing. 38
28730136 2017
44
Endoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC). 38
28476903 2017
45
Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency. 38
28045770 2017
46
Current and future therapies for inherited cholestatic liver diseases. 38
28223721 2017
47
Nasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy. 38
27917812 2016
48
Benign Recurrent Intrahepatic Cholestasis in a Young Adult. 38
27504332 2016
49
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. 38
26858187 2016
50
Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. 38
26223708 2016

Variations for Cholestasis, Benign Recurrent Intrahepatic, 1

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

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

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

74
# 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

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:

37
# 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 ABCG8 ABCG5 ABCB11
2 10.97 ABCG8 ABCG5
3
Show member pathways
10.9 ABCG8 ABCG5
4 10.78 SLC10A2 ABCG8 ABCG5 ABCB11
5 10.7 ABCG5 ABCB11

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 apical plasma membrane GO:0016324 9.26 SLC10A2 ATP8B1 ABCG8 ABCG5
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.16 KLHL20 CUL3
3 ATP-binding cassette (ABC) transporter complex GO:0043190 8.62 ABCG8 ABCG5

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 ZBTB7B ZBTB20 GZF1 CUL3 BACH2
2 transmembrane transport GO:0055085 9.81 SLC10A2 ABCG8 ABCG5 ABCB11
3 lipid transport GO:0006869 9.62 ATP8B1 ATP11C ABCG8 ABCG5
4 phospholipid transport GO:0015914 9.54 ATP8B1 ATP11C ABCG8
5 excretion GO:0007588 9.49 ABCG8 ABCG5
6 phospholipid translocation GO:0045332 9.48 ATP8B1 ATP11C
7 cholesterol efflux GO:0033344 9.46 ABCG8 ABCG5
8 intestinal cholesterol absorption GO:0030299 9.4 ABCG8 ABCG5
9 negative regulation of intestinal phytosterol absorption GO:0010949 9.26 ABCG8 ABCG5
10 negative regulation of intestinal cholesterol absorption GO:0045796 9.16 ABCG8 ABCG5
11 bile acid and bile salt transport GO:0015721 9.13 SLC10A2 ATP8B1 ABCB11
12 drug transmembrane transport GO:0006855 8.32 ATP8B1

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 9.43 ABCG8 ABCG5 ABCB11
2 phospholipid-translocating ATPase activity GO:0004012 9.16 ATP8B1 ATP11C
3 cholesterol transporter activity GO:0017127 8.96 ABCG8 ABCG5
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.8 ABCG8 ABCG5 ABCB11

Sources for Cholestasis, Benign Recurrent Intrahepatic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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