BRIC
MCID: BNG049
MIFTS: 45

Benign Recurrent Intrahepatic Cholestasis (BRIC) malady

Liver, Metabolic, Genetic categories

Summaries for Benign Recurrent Intrahepatic Cholestasis

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
See all sources

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Genetics Home Reference:21 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.

MalaCards: Benign Recurrent Intrahepatic Cholestasis, also known as cholestasis, benign recurrent intrahepatic, is related to intrahepatic cholestasis and low gamma-gt familial intrahepatic cholestasis, and has symptoms including autosomal recessive inheritance, nausea/vomiting/regurgitation/merycism/hyperemesis and hearing loss/hypoacusia/deafness. An important gene associated with Benign Recurrent Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Lipoprotein metabolism and Statin Pathway, Pharmacodynamics. The compounds taurocholate and torcetrapib have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:47 243300,605479

Aliases & Classifications for Benign Recurrent Intrahepatic Cholestasis

Sources:
21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Liver, Metabolic


Characteristics (Orphanet epidemiological data):

49
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

benign recurrent intrahepatic cholestasis 21 49 61
cholestasis, benign recurrent intrahepatic 47 45
bric 21 49
benign recurrent intrahepatic cholestasis type 1 49
low gamma-gt familial intrahepatic cholestasis 21
cholestasis, benign recurrent intrahepatic 1 61
recurrent familial intrahepatic cholestasis 21
atp8b1-related intrahepatic cholestasis 21
abcb11-related intrahepatic cholestasis 21
summerskill-walshe-tygstrup syndrome 49
progressive intrahepatic cholestasis 61
bric type 1 49
bric1 49


External Ids:

ICD10 via Orphanet26 K83.1
SNOMED-CT via Orphanet58 31155007
UMLS via Orphanet62 C0149841

Related Diseases for Benign Recurrent Intrahepatic Cholestasis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the cholestasis, progressive familial intrahepatic 1 family:

intrahepatic cholestasis benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2 cholestasis, progressive familial intrahepatic 2
cholestasis, progressive familial intrahepatic 3 cholestasis, progressive familial intrahepatic 4
benign recurrent intrahepatic cholestasis

Diseases related to Benign Recurrent Intrahepatic Cholestasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis31.8ABCB11, ATP8B1, GGT3P
2low gamma-gt familial intrahepatic cholestasis31.0ATP8B1, ABCB11
3cholestasis, progressive familial intrahepatic 130.4ABCB11, ATP8B1
4cholestasis, progressive familial intrahepatic 330.3ATP8B1, ABCB11
5benign recurrent intrahepatic cholestasis 110.7
6benign recurrent intrahepatic cholestasis 210.7
7atp8b1-related intrahepatic cholestasis10.5
8abcb11-related intrahepatic cholestasis10.5
9retinitis pigmentosa10.3
10cholestasis, progressive canalicular10.3
11pulmonary function10.3
12intrahepatic cholestasis of pregnancy10.2
13pregnancy loss, recurrent 110.2
14lateral sclerosis10.0
15amyotrophic lateral sclerosis10.0
16brain injury10.0
17cholestasis, progressive familial intrahepatic 210.0ATP8B1, ABCB11
18acute myocardial infarction10.0LCAT
19alzheimer's disease10.0CETP
20alagille syndrome10.0ATP8B1, LCAT
21alcohol abuse10.0LCAT
22abetalipoproteinemia10.0LCAT, CETP
23galactosemia10.0ATP8B1, ABCB11, LCAT
24nephrotic syndrome10.0LCAT, CETP
25tangier disease10.0LCAT, CETP
26primary biliary cirrhosis10.0CETP, ABCB11
27hyperlipidemia type 310.0CETP, LIPC
28coronary stenosis10.0LIPC, CETP
29essential hypertension10.0CETP, LCAT
30glucose intolerance10.0LIPC, CETP
31hypoalphalipoproteinemia10.0CETP, LIPC, LCAT
32hyperalphalipoproteinemia10.0CETP, LCAT, LIPC
33familial hypercholesterolemia10.0LCAT, LIPC, CETP
34familial combined hyperlipidemia10.0LCAT, LIPC, CETP
35familial hyperlipidemia10.0CETP, LCAT, LIPC
36fatty liver disease10.0LCAT, CETP, LIPC
37coronary heart disease10.0LIPC, LCAT, CETP
38hyperinsulinism10.0CETP, LIPC, LCAT
39type 1 diabetes10.0LCAT, LIPC, CETP
40hypertriglyceridemia10.0LIPC, CETP, LCAT
41vascular disease10.0CETP, LCAT, LIPC
42coronary artery disease,10.0LIPC, CETP, LCAT
43insulin resistance10.0CETP, LCAT, LIPC
44chronic kidney failure10.0LIPC, CETP, LCAT
45hypercholesterolemia10.0LCAT, CETP, LIPC
46type 2 diabetes mellitus10.0LCAT, LIPC, CETP
47primary hyperoxaluria10.0LIPC, LCAT, CETP
48cholestasis10.0LCAT, ATP8B1, LIPC, ABCB11, CETP

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



Diseases related to benign recurrent intrahepatic cholestasis

Clinical Features for Benign Recurrent Intrahepatic Cholestasis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

243300,605479

Clinical synopsis from OMIM:

243300

Symptoms:

49 (show all 17)
  • autosomal recessive inheritance
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • hearing loss/hypoacusia/deafness
  • malabsorption/chronic diarrhea/steatorrhea
  • asthenia/fatigue/weakness
  • hepatitis/icterus/cholestasis
  • pruritus/itching
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • acute abdominal pain/colic
  • cirrhosis
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • pancreatitis
  • anorexia
  • abnormal hepatic enzymes/transaminases
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • abnormal colour of the urine/cholic/dark urines
  • mucous stools/acholic stools

Drugs & Therapeutics for Benign Recurrent Intrahepatic Cholestasis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Benign Recurrent Intrahepatic Cholestasis

Drug clinical trials:

Search ClinicalTrials for Benign Recurrent Intrahepatic Cholestasis

Search NIH Clinical Center for Benign Recurrent Intrahepatic Cholestasis

Search CenterWatch for Benign Recurrent Intrahepatic Cholestasis

Genetic Tests for Benign Recurrent Intrahepatic Cholestasis

Anatomical Context for Benign Recurrent Intrahepatic Cholestasis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Benign Recurrent Intrahepatic Cholestasis:

33
Liver

Animal Models for Benign Recurrent Intrahepatic Cholestasis or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Benign Recurrent Intrahepatic Cholestasis

Sources:
51PubMed
See all sources

Articles related to Benign Recurrent Intrahepatic Cholestasis:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis. (24342334)
2013
2
Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis. (24164717)
2013
3
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. (22229830)
2012
4
A case report: nasobiliary drainage inducing remission in benign recurrent intrahepatic cholestasis. (22505385)
2012
5
Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. (23402083)
2012
6
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. (21766090)
2011
7
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. (20955958)
2010
8
Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future? (20537422)
2010
9
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. (19731236)
2009
10
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. (18379143)
2008
11
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
12
Benign recurrent intrahepatic cholestasis (BRIC) in an adult. (18416353)
2007
13
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. (16374853)
2006
14
Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. (16394881)
2006
15
Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. (16736228)
2006
16
Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. (15827452)
2005
17
Benign recurrent intrahepatic cholestasis. (16186684)
2005
18
Benign recurrent intrahepatic cholestasis. (15062197)
2004
19
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
20
Successful clinical application of extracorporal albumin dialysis in a patient with benign recurrent intrahepatic cholestasis (BRIC). (16215886)
2001
21
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. (11146465)
2000
22
Benign recurrent intrahepatic cholestasis. (11291237)
1999
23
Benign recurrent intrahepatic cholestasis in a Saudi child. (10690264)
1999
24
Cracking the genetic code for benign recurrent and progressive familial intrahepatic cholestasis. (9722216)
1998
25
Benign recurrent intrahepatic cholestasis. (9170826)
1997
26
Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report. (9272324)
1997
27
Benign recurrent intrahepatic cholestasis and Byler's disease: one gene, two diseases? (8895021)
1996
28
Benign recurrent intrahepatic cholestasis. (8772982)
1995
29
Benign recurrent intrahepatic cholestasis: a long-term follow-up. (7959556)
1994
30
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
1992
31
Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism. (2050325)
1991
32
Benign recurrent intrahepatic cholestasis. A clinico-pathologic study. (2356403)
1990
33
Benign recurrent intrahepatic cholestasis: failure of S-adenosylmethionine therapy. (2391074)
1990
34
Benign recurrent intrahepatic cholestasis: altered bile acid metabolism. (2744357)
1989
35
Benign recurrent intrahepatic cholestasis. A report of 26 cases. (2794432)
1989
36
Benign recurrent intrahepatic cholestasis: a long-term follow-up study of two patients. (2925156)
1989
37
Benign recurrent intrahepatic cholestasis in a Chinese girl. (2491224)
1989
38
Benign recurrent intrahepatic cholestasis: treatment with S-adenosylmethionine. (2703120)
1989
39
Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. (3678736)
1987
40
Benign recurrent intrahepatic cholestasis--25 years of follow-up. (3684838)
1987
41
Benign recurrent intrahepatic cholestasis. (4067969)
1985
42
A case report of benign recurrent intrahepatic cholestasis. (6519416)
1984
43
A distinctive pattern of serum bile acid and bilirubin concentrations in benign recurrent intrahepatic cholestasis. (7250892)
1981
44
Benign recurrent intrahepatic cholestasis: studies of bilirubin kinetics, bile acids, and cholangiography. (7380339)
1980
45
Serum bile acid concentrations in the course of benign recurrent intrahepatic cholestasis. (7259083)
1980
46
Three cases of benign recurrent intrahepatic cholestasis (Summerskill-Walshe syndrome). (593703)
1977
47
Is an acute disturbance in hepatic transport of bile-acids the primary cause of cholestasis in benign recurrent intrahepatic cholestasis? (4134960)
1974
48
Benign recurrent intrahepatic cholestasis. (5545916)
1971
49
Benign recurrent intrahepatic cholestasis , with response to cholestyramine. (5831906)
1965
50
Benign recurrent intrahepatic cholestasis. (15445950)
1963

Genetic Variations for Benign Recurrent Intrahepatic Cholestasis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Benign Recurrent Intrahepatic Cholestasis:

63
id Symbol AA change Variation SNP ID
1ATP8B1p.Ile661ThrVAR_008812rs28939686
2ATP8B1p.Gly892ArgVAR_008813
3ATP8B1p.Gly308AspVAR_043049rs28939685
4ATP8B1p.Ile344PheVAR_043050
5ATP8B1p.Ser453TyrVAR_043056
6ATP8B1p.Asp454GlyVAR_043057
7ATP8B1p.Arg600GlnVAR_043063
8ATP8B1p.Arg600TrpVAR_043064
9ATP8B1p.Arg628TrpVAR_043065
10ATP8B1p.Ile694ThrVAR_043068

Expression for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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

Pathways for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

Sources:
54Reactome, 50PharmGKB, 38NCBI BioSystems Database
See all sources

Pathways related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5CETP, LCAT
2
Hide members
8.9CETP, LIPC, LCAT

Compounds for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1taurocholate459.9ABCB11, ATP8B1
2torcetrapib459.9CETP, LCAT
3cholesteryl linoleate459.9CETP, LCAT
4psyllium459.9LCAT, CETP
5p-opc459.8CETP, LCAT
6rosuvastatin45 50 29 1112.8CETP, ABCB11
7dopc459.8LCAT, LIPC
8chenodeoxycholic acid45 29 11 2412.7CETP, ABCB11
9acetaldehyde45 29 2411.7CETP, LCAT
10phosphatidylethanolamine45 1110.6LCAT, LIPC
11gemfibrozil45 29 1111.6CETP, LIPC
12glibenclamide45 29 50 6012.6ABCB11, LIPC
13fenofibrate45 50 1111.5LIPC, CETP
14pravastatin45 50 29 11 2413.4LCAT, ABCB11, CETP
15cholic acid45 29 11 2412.4LCAT, LIPC, ABCB11
16oleic acid45 29 11 2412.3CETP, LIPC
17intralipid459.3CETP, LIPC, LCAT
18probucol45 1110.3LCAT, LIPC, CETP
19cholesterol ester459.3CETP, LIPC, LCAT
20bezafibrate45 29 1111.3CETP, LIPC, LCAT
21triacylglycerol459.2CETP, LIPC, LCAT
22stearic acid45 11 2411.2LIPC, CETP
23sodium dodecylsulfate459.2CETP, LIPC, LCAT
24atorvastatin45 50 29 11 2413.2CETP, LIPC, LCAT
25sterol459.2LCAT, LIPC, CETP
26phosphatidylcholine459.2CETP, LIPC, LCAT
27vitamin a45 11 2411.2LCAT, LIPC, CETP
28myristic acid45 11 2411.1LIPC, LCAT
29cyclosporin a45 29 6011.1CETP, ABCB11, LIPC
30fatty acid458.9LCAT, LIPC, CETP
31heparin45 29 11 2411.9CETP, LIPC, LCAT
32phospholipid458.8LCAT, LIPC, ABCB11, CETP
33estrogen458.7LCAT, LIPC, ABCB11, CETP
34cholesterol45 29 11 2411.5LCAT, ATP8B1, LIPC, ABCB11, CETP
35lipid458.4LCAT, ATP8B1, LIPC, ABCB11, CETP

GO Terms for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

Sources:
16Gene Ontology
See all sources

Cellular components related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:0343648.9CETP, LIPC, LCAT

Biological processes related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:0157219.7ATP8B1, ABCB11
2cholesterol transportGO:0303019.6CETP, LCAT
3lipoprotein metabolic processGO:0421579.5CETP, LCAT
4low-density lipoprotein particle remodelingGO:0343749.4CETP, LIPC
5bile acid metabolic processGO:0082069.4ABCB11, ATP8B1
6triglyceride homeostasisGO:0703289.2CETP, LIPC
7very-low-density lipoprotein particle remodelingGO:0343729.1CETP, LIPC, LCAT
8high-density lipoprotein particle remodelingGO:0343759.1CETP, LIPC, LCAT
9reverse cholesterol transportGO:0436919.1LCAT, LIPC, CETP
10cholesterol homeostasisGO:0426329.1CETP, LIPC, LCAT
11cholesterol metabolic processGO:0082039.0LCAT, LIPC, CETP

Molecular functions related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cation-transporting ATPase activityGO:0198299.6ATP8B4, ATP8B1
2phospholipid-translocating ATPase activityGO:0040129.3ATP8B4, ATP8B1

Products for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Benign Recurrent Intrahepatic Cholestasis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet