BRIC1
MCID: CHL134
MIFTS: 57

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 56 73
Benign Recurrent Intrahepatic Cholestasis 12 52 25 58 36 15 71
Bric1 56 12 52 58 73
Summerskill Syndrome 56 12 52 73
Bric 12 52 25 58
Cholestasis, Benign Recurrent Intrahepatic 1 52 29 6
Benign Recurrent Intrahepatic Cholestasis 1 12 52 15
Cholestasis, Benign Recurrent Intrahepatic 56 13 54
Summerskill-Walshe-Tygstrup Syndrome 12 52 58
Low Gamma-Gt Familial Intrahepatic Cholestasis 25 29
Recurrent Familial Intrahepatic Cholestasis 25 73
Bric Type 1 12 58
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 39
Cholestasis, Progressive Familial Intrahepatic 3 71
Benign Recurrent Intrahepatic Cholestasis Type 1 58
Recurrent Familial Intrahepatic Cholestasis 1 52
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 71
Mild Atp8b1 Deficiency 52

Characteristics:

Orphanet epidemiological data:

58
benign recurrent intrahepatic cholestasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
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:

31
cholestasis, benign recurrent intrahepatic, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070230 DOID:0070231
OMIM 56 243300
OMIM Phenotypic Series 56 PS243300
KEGG 36 H02192
MeSH 43 D002780
MESH via Orphanet 44 C535930
ICD10 via Orphanet 33 K83.1
UMLS via Orphanet 72 C0149841 C1855731
UMLS 71 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, eye and skin, 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 : 52 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 : 56 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 : 36 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 : 73 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
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 top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 34.4 SLC10A2 NR1H4 ATP8B1 ABCG5 ABCC2 ABCB4
2 cholestasis 31.3 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
3 atp8b1 deficiency 30.7 NR1H4 ATP8B1 ABCB11
4 liver disease 30.7 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
5 cholelithiasis 30.7 NR1H4 ABCG5 ABCB4
6 intrahepatic cholestasis of pregnancy 30.5 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
7 bilirubin metabolic disorder 30.5 ATP8B1 ATP11C ABCC2 ABCB4 ABCB11
8 primary biliary cirrhosis 30.4 NR1H4 ABCC2 ABCB4 ABCB11
9 familial intrahepatic cholestasis 30.3 TMEM30A SLC10A2 NR1H4 ATP8B1 ATP8A1 ABCC2
10 cholestasis, intrahepatic, of pregnancy, 1 30.2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
11 biliary tract disease 30.2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
12 cholestasis, progressive familial intrahepatic, 2 29.8 TMEM30A SLC10A2 NR1H4 ATP8B1 ABCG5 ABCC2
13 progressive familial intrahepatic cholestasis 29.6 TMEM30A SLC10A2 NR1H4 ATP8B1 ATP8A2 ATP8A1
14 cholestasis, progressive familial intrahepatic, 1 28.3 TMEM30CP TMEM30B TMEM30A SLC10A2 NR1H4 ATP9A
15 cholangitis 10.5 NR1H4 ABCB4 ABCB11
16 bile duct cysts 10.4 ATP8B1 ABCB4 ABCB11
17 autosomal dominant non-syndromic intellectual disability 3 10.4 ABCB4 ABCB11
18 cholestasis, progressive familial intrahepatic, 5 10.4 NR1H4 ATP8B1 ABCB11
19 pericholangitis 10.4 SLC10A2 ABCB4 ABCB11
20 alagille syndrome 1 10.4 ATP8B1 ABCB4 ABCB11
21 chronic cholangitis 10.4 ATP8B1 ABCB4
22 cholestasis, progressive familial intrahepatic, 4 10.4 SLC10A2 ATP8B1 ABCB4 ABCB11
23 autoimmune disease of urogenital tract 10.3 NR1H4 ABCB4 ABCB11
24 dubin-johnson syndrome 10.3 ATP8B1 ABCC2 ABCB11
25 functional diarrhea 10.3 SLC10A2 NR1H4
26 viral hepatitis 10.3
27 extrahepatic cholestasis 10.2 NR1H4 ABCC2 ABCB4 ABCB11
28 caroli disease 10.2 ATP8B1 ABCB4
29 sclerosing cholangitis 10.2 NR1H4 ABCC2 ABCB4 ABCB11
30 gallbladder disease 10.2 NR1H4 ABCG5 ABCB4 ABCB11
31 autosomal recessive disease 10.2
32 biliary atresia 10.2 SLC10A2 NR1H4 ATP8B1 ABCB4 ABCB11
33 ischemia 10.1
34 acquired immunodeficiency syndrome 10.1
35 brain injury 10.1
36 head injury 10.1
37 sitosterolemia 10.1 ATP8B1 ABCG5 ABCC2 ABCB4 ABCB11
38 hypercholesterolemia, familial, 1 10.1
39 nephrolithiasis, calcium oxalate 10.1
40 retinitis pigmentosa 10.1
41 gallbladder disease 1 10.1
42 neuroretinitis 10.1
43 alcoholic hepatitis 10.1
44 hepatitis a 10.1
45 diarrhea 10.1
46 autoimmune hepatitis 10.1
47 retinitis 10.1
48 hepatitis e 10.1
49 pancreatitis 10.1
50 rapidly involuting congenital hemangioma 10.1

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
5 cholestatic liver disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0002611
6 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
7 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
8 acholic stools 58 31 hallmark (90%) Very frequent (99-80%) HP:0011985
9 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
10 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
12 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
13 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
14 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
15 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
16 hepatocellular carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001402
17 hepatomegaly 31 HP:0002240
18 conjugated hyperbilirubinemia 31 HP:0002908
19 intermittent jaundice 31 HP:0001046
20 increased serum bile acid concentration 31 HP:0012202
21 intrahepatic cholestasis with episodic jaundice 31 HP:0006575

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ABCB11 ABCB4 ABCC2 ABCG5 ATP11A ATP11C
2 liver/biliary system MP:0005370 9.28 ABCB11 ABCB4 ABCC2 ABCG5 ATP11A ATP8B1

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 12)
# 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 Liver Extracts
5 Alpha 1-Antitrypsin
6 Bile Acids and Salts
7 Protein C Inhibitor
8 Neurotransmitter Agents
9 Central Nervous System Stimulants
10 Autonomic Agents
11 Cholinergic Agents
12 Nicotinic Agonists

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
7 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Not yet recruiting NCT04071197

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:

40
Liver, Eye, Skin, Brain, Heart, Lung, Pancreas

Publications for Cholestasis, Benign Recurrent Intrahepatic, 1

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 1:

(show top 50) (show all 208)
# Title Authors PMID Year
1
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 61 56 6
9500542 1998
2
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. 61 56 6
7894490 1994
3
Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. 56 6
9918928 1999
4
Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands. 56 6
5807632 1969
5
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 61 6
15300568 2004
6
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 61 6
15239083 2004
7
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. 61 56
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. 61 56
9272159 1997
9
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. 61 56
7677155 1995
10
Benign recurrent intrahepatic cholestasis. A report of 26 cases. 61 56
2794432 1989
11
Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. 61 56
3678736 1987
12
Benign recurrent intrahepatic cholestasis. 61 56
13976702 1963
13
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 6
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. 56
15448432 2004
15
ATP8B1 Deficiency 6
20301474 2001
16
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 6
10579978 1999
17
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 6
9806540 1998
18
Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. 56
2884068 1986
19
Benign recurrent cholestasis. 56
4777519 1973
20
Intermittent possibly familial intrahepatic cholestatic jaundice. 56
13840084 1960
21
Benign recurrent intrahepatic "obstructive" jaundice. 56
13835689 1959
22
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 54 61
20422495 2010
23
Progressive familial intrahepatic cholestasis type 1. 54 61
20422494 2010
24
Strain background modifies phenotypes in the ATP8B1-deficient mouse. 54 61
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. 54 61
18668687 2008
26
ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. 54 61
17948906 2008
27
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 54 61
15888793 2005
28
Taurocholate transport by hepatic and intestinal bile acid transporters is independent of FIC1 overexpression in Madin-Darby canine kidney cells. 54 61
15209631 2004
29
Progressive familial intrahepatic cholestasis. 54 61
12596388 2002
30
A missense mutation in FIC1 is associated with greenland familial cholestasis. 54 61
11093741 2000
31
Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders. 61
31544333 2020
32
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. 61
31582009 2019
33
A rare cause of a cholestatic jaundice in a North African teenager. 61
31021034 2019
34
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease. 61
31538484 2019
35
Successful treatment of a patient with benign recurrent intrahepatic cholestasis type 1 with albumin dialysis. 61
31642075 2019
36
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 61
31015375 2019
37
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. 61
30899697 2019
38
Percutaneous transgastral biliodigestive diversion as treatment option for benign recurrent intrahepatic cholestasis. 61
30339724 2019
39
A Physiology-Based Model of Human Bile Acid Metabolism for Predicting Bile Acid Tissue Levels After Drug Administration in Healthy Subjects and BRIC Type 2 Patients. 61
31611804 2019
40
[Clinical and pathological features of inherited metabolic liver disease in adults]. 61
30669779 2018
41
[Clinical characteristics and diagnosis of patients with benign recurrent intrahepatic cholestasis]. 61
30317764 2018
42
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. 61
29507376 2018
43
Genetic determinants of cholangiopathies: Molecular and systems genetics. 61
28757171 2018
44
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. 61
29404523 2018
45
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. 61
29191380 2018
46
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. 61
30148122 2018
47
Genetic Testing in Liver Disease: What to Order, in Whom, and When. 61
28987255 2017
48
Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing. 61
28730136 2017
49
Endoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC). 61
28476903 2017
50
Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency. 61
28045770 2017

Variations for Cholestasis, Benign Recurrent Intrahepatic, 1

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP8B1 ATP8B1, 9-BP DEL, NT2384deletion Pathogenic 7268
2 ATP8B1 NM_005603.6(ATP8B1):c.2932-3C>ASNV Pathogenic 7270 18:55321310-55321310 18:57654078-57654078
3 ATP8B1 NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn)SNV Conflicting interpretations of pathogenicity 7271 rs34719006 18:55373793-55373793 18:57706561-57706561
4 ATP8B1 NM_005603.6(ATP8B1):c.1982T>C (p.Ile661Thr)SNV Conflicting interpretations of pathogenicity 7267 rs121909100 18:55336665-55336665 18:57669433-57669433
5 ATP8B1 NM_005603.6(ATP8B1):c.2546G>A (p.Arg849Gln)SNV Uncertain significance 383293 rs144656719 18:55328567-55328567 18:57661335-57661335
6 ATP8B1 NM_005603.6(ATP8B1):c.1981A>G (p.Ile661Val)SNV Uncertain significance 498425 rs1555689790 18:55336666-55336666 18:57669434-57669434

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

73
# 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:

36
# 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
12.93 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
2
Show member pathways
12.62 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
3
Show member pathways
11.86 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
4
Show member pathways
11.7 ABCC2 ABCB4 ABCB11
5 11.59 SLC10A2 NR1H4 ABCG5 ABCC2 ABCB4 ABCB11
6 11.26 NR1H4 ABCG5 ABCC2 ABCB4 ABCB11
7 10.86 NR1H4 ABCB4 ABCB11
8 10.77 NR1H4 ABCC2 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 membrane GO:0016020 10.36 TMEM30B TMEM30A SLC10A2 ATP9B ATP9A ATP8B4
2 endoplasmic reticulum GO:0005783 10.07 TMEM30CP TMEM30B TMEM30A ATP8B3 ATP8B2 ATP8B1
3 integral component of membrane GO:0016021 9.93 TMEM30CP TMEM30B TMEM30A SLC10A2 ATP9B ATP9A
4 apical plasma membrane GO:0016324 9.91 TMEM30A SLC10A2 ATP8B1 ABCG5 ABCC2 ABCB4
5 Golgi apparatus GO:0005794 9.9 TMEM30CP TMEM30B TMEM30A ATP9B ATP9A ATP8B4
6 specific granule membrane GO:0035579 9.76 TMEM30A ATP8B4 ATP8A1 ATP11A
7 trans-Golgi network GO:0005802 9.73 ATP9B ATP9A ATP8A2 ATP8A1 ATP11C ATP11A
8 recycling endosome GO:0055037 9.65 ATP9A ATP11C ATP11A
9 plasma membrane GO:0005886 9.6 TMEM30CP TMEM30B TMEM30A SLC10A2 ATP9B ATP9A
10 intercellular canaliculus GO:0046581 9.5 ABCC2 ABCB4 ABCB11

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 phospholipid transport GO:0015914 9.93 TMEM30A ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2
2 transmembrane transport GO:0055085 9.92 SLC10A2 ABCG5 ABCC2 ABCB4 ABCB11
3 ion transmembrane transport GO:0034220 9.85 ATP8B2 ATP8B1 ATP8A1 ATP11C ATP10D
4 lipid transport GO:0006869 9.77 TMEM30B TMEM30A ATP8B4 ATP8B3 ATP8B2 ATP8B1
5 Golgi organization GO:0007030 9.73 ATP8B4 ATP8B3 ATP8B2 ATP8B1
6 bile acid and bile salt transport GO:0015721 9.65 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB11
7 drug transmembrane transport GO:0006855 9.58 TMEM30A ATP8B1 ABCC2
8 aminophospholipid transport GO:0015917 9.54 TMEM30B TMEM30A ATP8B1
9 positive regulation of protein exit from endoplasmic reticulum GO:0070863 9.51 TMEM30B TMEM30A
10 positive regulation of phospholipid translocation GO:0061092 9.5 ATP8A2 ATP8A1 ABCB4
11 phospholipid translocation GO:0045332 9.5 TMEM30CP TMEM30B TMEM30A ATP9B ATP9A ATP8B4
12 bile acid metabolic process GO:0008206 9.49 NR1H4 ATP8B1
13 canalicular bile acid transport GO:0015722 9.48 ABCC2 ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.13 NR1H4 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2
2 ATP binding GO:0005524 9.83 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
3 ATPase activity GO:0016887 9.67 ABCG5 ABCC2 ABCB4 ABCB11
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.56 ABCG5 ABCC2 ABCB4 ABCB11
5 aminophospholipid transmembrane transporter activity GO:0015247 9.46 TMEM30B TMEM30A ATP8B1 ATP8A2
6 magnesium ion binding GO:0000287 9.36 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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