BRIC
MCID: BNG049
MIFTS: 48

Benign Recurrent Intrahepatic Cholestasis (BRIC) malady

Liver diseases, Metabolic diseases, Genetic diseases categories

Summaries for Benign Recurrent Intrahepatic Cholestasis

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Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
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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 cholestasis, and has symptoms including hepatic/liver neoplasm/tumor/carcinoma/cancer, pancreatitis and cirrhosis. 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:46 243300,605479

Aliases & Classifications for Benign Recurrent Intrahepatic Cholestasis

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Sources:
21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

benign recurrent intrahepatic cholestasis 21 48 60
cholestasis, benign recurrent intrahepatic 46 44
bric 21 48
benign recurrent intrahepatic cholestasis type 1 48
low gamma-gt familial intrahepatic cholestasis 21
cholestasis, benign recurrent intrahepatic 1 60
recurrent familial intrahepatic cholestasis 21
atp8b1-related intrahepatic cholestasis 21
abcb11-related intrahepatic cholestasis 21
summerskill-walshe-tygstrup syndrome 48
progressive intrahepatic cholestasis 60
bric type 1 48
bric1 48


External Ids:

ICD10 via Orphanet26 K83.1
SNOMED-CT via Orphanet57 31155007
UMLS via Orphanet61 C0149841

Related Diseases for Benign Recurrent Intrahepatic Cholestasis

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Sources:
17GeneCards, 18GeneDecks
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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
Atp8b1-Related Intrahepatic Cholestasis Abcb11-Related Intrahepatic Cholestasis
benign recurrent intrahepatic cholestasis

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis31.7GGT3P, ABCB11, ATP8B1
2cholestasis31.7CETP, ABCB11, LIPC, ATP8B1, LCAT
3low gamma-gt familial intrahepatic cholestasis30.8ATP8B1, ABCB11
4cholestasis, progressive familial intrahepatic 130.5ABCB11, ATP8B1
5cholestasis, progressive familial intrahepatic 330.2ABCB11, ATP8B1
6benign recurrent intrahepatic cholestasis 210.6
7benign recurrent intrahepatic cholestasis 110.5
8atp8b1-related intrahepatic cholestasis10.5
9abcb11-related intrahepatic cholestasis10.5
10retinitis pigmentosa10.3
11hepatitis10.3
12obesity10.3
13retinitis10.3
14intrahepatic cholestasis of pregnancy10.2
15pregnancy loss, recurrent 110.2
16lateral sclerosis10.0
17amyotrophic lateral sclerosis10.0
18cervicitis10.0
19cholestasis, progressive familial intrahepatic 210.0ABCB11, ATP8B1
20acute myocardial infarction10.0LCAT
21alzheimer's disease10.0CETP
22alagille syndrome10.0ATP8B1, LCAT
23alcohol abuse10.0LCAT
24abetalipoproteinemia10.0CETP, LCAT
25galactosemia10.0ABCB11, ATP8B1, LCAT
26nephrotic syndrome10.0CETP, LCAT
27tangier disease10.0CETP, LCAT
28primary biliary cirrhosis10.0CETP, ABCB11
29hyperlipidemia type 310.0CETP, LIPC
30coronary stenosis10.0LIPC, CETP
31essential hypertension10.0CETP, LCAT
32glucose intolerance10.0LIPC, CETP
33hypoalphalipoproteinemia10.0LCAT, LIPC, CETP
34hyperalphalipoproteinemia10.0LCAT, LIPC, CETP
35familial hypercholesterolemia10.0LCAT, LIPC, CETP
36familial combined hyperlipidemia10.0LCAT, LIPC, CETP
37familial hyperlipidemia10.0LCAT, LIPC, CETP
38fatty liver disease10.0CETP, LIPC, LCAT
39coronary heart disease10.0LCAT, LIPC, CETP
40hyperinsulinism10.0CETP, LIPC, LCAT
41type 1 diabetes10.0LCAT, LIPC, CETP
42hypertriglyceridemia10.0CETP, LIPC, LCAT
43vascular disease10.0CETP, LIPC, LCAT
44coronary artery disease10.0LCAT, LIPC, CETP
45insulin resistance10.0CETP, LIPC, LCAT
46chronic kidney failure10.0CETP, LIPC, LCAT
47hypercholesterolemia10.0LCAT, LIPC, CETP
48type 2 diabetes mellitus10.0CETP, LIPC, LCAT
49primary hyperoxaluria10.0CETP, LIPC, LCAT

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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

243300,605479

Clinical synopsis from OMIM:

243300

Symptoms:

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

Drugs & Therapeutics for Benign Recurrent Intrahepatic Cholestasis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Benign Recurrent Intrahepatic Cholestasis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Benign Recurrent Intrahepatic Cholestasis:

32
Liver

Animal Models for Benign Recurrent Intrahepatic Cholestasis or affiliated genes

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Publications for Benign Recurrent Intrahepatic Cholestasis

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Genetic Variations for Benign Recurrent Intrahepatic Cholestasis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Benign Recurrent Intrahepatic Cholestasis:

62
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 49PharmGKB, 37NCBI BioSystems Database
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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

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1taurocholate449.9ABCB11, ATP8B1
2torcetrapib449.9CETP, LCAT
3cholesteryl linoleate449.9CETP, LCAT
4psyllium449.9LCAT, CETP
5p-opc449.8CETP, LCAT
6rosuvastatin44 49 28 1112.8CETP, ABCB11
7dopc449.8LCAT, LIPC
8chenodeoxycholic acid44 28 11 2412.7CETP, ABCB11
9acetaldehyde44 28 2411.7CETP, LCAT
10phosphatidylethanolamine44 1110.6LCAT, LIPC
11gemfibrozil44 28 1111.6CETP, LIPC
12glibenclamide44 28 49 5912.6ABCB11, LIPC
13fenofibrate44 49 1111.5LIPC, CETP
14pravastatin44 49 28 11 2413.4LCAT, ABCB11, CETP
15cholic acid44 28 11 2412.4LCAT, LIPC, ABCB11
16oleic acid44 28 11 2412.3CETP, LIPC
17intralipid449.3CETP, LIPC, LCAT
18probucol44 1110.3LCAT, LIPC, CETP
19cholesterol ester449.3CETP, LIPC, LCAT
20bezafibrate44 28 1111.3CETP, LIPC, LCAT
21triacylglycerol449.2CETP, LIPC, LCAT
22stearic acid44 11 2411.2LIPC, CETP
23sodium dodecylsulfate449.2CETP, LIPC, LCAT
24atorvastatin44 49 28 11 2413.2CETP, LIPC, LCAT
25sterol449.2LCAT, LIPC, CETP
26phosphatidylcholine449.2CETP, LIPC, LCAT
27vitamin a44 11 2411.2LCAT, LIPC, CETP
28myristic acid44 11 2411.1LIPC, LCAT
29cyclosporin a44 28 5911.1CETP, ABCB11, LIPC
30fatty acid448.9LCAT, LIPC, CETP
31heparin44 28 11 2411.9CETP, LIPC, LCAT
32phospholipid448.8LCAT, LIPC, ABCB11, CETP
33estrogen448.7LCAT, LIPC, ABCB11, CETP
34cholesterol44 28 11 2411.5LCAT, ATP8B1, LIPC, ABCB11, CETP
35lipid448.4LCAT, ATP8B1, LIPC, ABCB11, CETP

GO Terms for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Benign Recurrent Intrahepatic Cholestasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet