BRIC1
MCID: CHL120
MIFTS: 46

Cholestasis, Benign Recurrent Intrahepatic (BRIC1) malady

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

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Benign Recurrent Intrahepatic:

Name: Cholestasis, Benign Recurrent Intrahepatic 52 12 50
Benign Recurrent Intrahepatic Cholestasis 48 25 54 68
Bric1 48 24 54 70
Bric 48 25 54
Benign Recurrent Intrahepatic Cholestasis Type 1 54 27
Cholestasis, Benign Recurrent Intrahepatic, 1 52 70
Recurrent Familial Intrahepatic Cholestasis 25 70
Summerskill-Walshe-Tygstrup Syndrome 48 54
Summerskill Syndrome 48 70
Benign Recurrent Intrahepatic Cholestasis, Type 1 24
Cholestasis, Progressive Familial Intrahepatic 3 68
 
Low Gamma-Gt Familial Intrahepatic Cholestasis 25
Recurrent Familial Intrahepatic Cholestasis 1 48
Cholestasis, Benign Recurrent Intrahepatic 1 48
Benign Recurrent Intrahepatic Cholestasis 1 48
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 68
Mild Atp8b1 Deficiency 48
Bric Type 1 54
Bric-1 24

Characteristics:

Orphanet epidemiological data:

54
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
cholestasis, benign recurrent intrahepatic:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 243300
UMLS via Orphanet69 C0149841, C1855731
ICD10 via Orphanet31 K83.1
MESH via Orphanet40 C535930
MedGen37 C1855731
MeSH39 D002780

Summaries for Cholestasis, Benign Recurrent Intrahepatic

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NIH Rare Diseases:48 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. last updated: 10/11/2016

MalaCards based summary: Cholestasis, Benign Recurrent Intrahepatic, also known as benign recurrent intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic, 2 and low gamma-gt familial intrahepatic cholestasis, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways are Drug Induction of Bile Acid Pathway and Synthesis of bile acids and bile salts. Affiliated tissues include liver, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and liver/biliary system.

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.

OMIM:52 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic... (243300) more...

UniProtKB/Swiss-Prot:70 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

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Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic 2 Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
Cholestasis, Progressive Familial Intrahepatic 1 cholestasis, benign recurrent intrahepatic
Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

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

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis, benign recurrent intrahepatic, 233.0ABCB11, ABCB4, ATP8B1, NR1H4
2low gamma-gt familial intrahepatic cholestasis12.6
3abcb11-related intrahepatic cholestasis12.2
4atp8b1-related intrahepatic cholestasis12.2
5cholestasis, progressive familial intrahepatic 111.2
6cholestasis10.4
7intrahepatic cholestasis10.4
8borderline leprosy9.9ABCB4, NR1H4
9pseudoarthrosis9.8ABCB4, NR1H4
10autosomal dominant tubulointerstitial kidney disease, muc1-related9.8ABCB11, ATP8B1, NR1H4
11dyserythropoietic anemia, congenital, type ii9.8ABCB4, ATP8B1
12acute cholangitis9.8ABCB11, ABCB4
13bacterial meningitis9.7ABCB11, ABCB4
14marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections9.7ABCB11, ABCB4, ATP8B1
15gallbladder disease 19.7ABCB11, ABCB4, ATP8B1
16lymphoid leukemia9.6ABCB11, ABCB4, ATP8B1
17amyotrophic lateral sclerosis 39.5ABCB11, ABCB4, ATP8B1, NR1H4
18cholestasis, intrahepatic, of pregnancy, 19.5ABCB11, ABCB4, ATP8B1, NR1H4
19gastrointestinal adenoma9.5ABCB11, ABCB4, ATP8B1, NR1H4
20heart aneurysm9.5ABCB11, ABCB4, ATP8B1, NR1H4
21chronic rheumatic pericarditis9.5ABCB11, ABCB4, ATP8B1, NR1H4
22eclampsia9.5ABCB11, ABCB4, ATP8B1, NR1H4

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



Diseases related to cholestasis, benign recurrent intrahepatic

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic

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Symptoms by clinical synopsis from OMIM:

243300

Clinical features from OMIM:

243300

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Occasional (29-5%) HP:0000365
2 jaundice64 54 Very frequent (99-80%) HP:0000952
3 pruritus64 54 Very frequent (99-80%) HP:0000989
4 cholelithiasis64 54 Occasional (29-5%) HP:0001081
5 cirrhosis64 54 Occasional (29-5%) HP:0001394
6 hepatocellular carcinoma64 54 Occasional (29-5%) HP:0001402
7 pancreatitis64 54 Occasional (29-5%) HP:0001733
8 weight loss64 54 Very frequent (99-80%) HP:0001824
9 nausea and vomiting64 54 Frequent (79-30%) HP:0002017
10 abdominal pain64 54 Occasional (29-5%) HP:0002027
11 chronic diarrhea64 54 Occasional (29-5%) HP:0002028
12 anorexia64 54 Very frequent (99-80%) HP:0002039
13 cholestatic liver disease64 54 Very frequent (99-80%) HP:0002611
14 elevated hepatic transaminases64 54 Very frequent (99-80%) HP:0002910
15 acholic stools64 54 Very frequent (99-80%) HP:0011985
16 fatigue64 54 Very frequent (99-80%) HP:0012378
17 intermittent jaundice64 HP:0001046
18 hepatomegaly64 HP:0002240
19 conjugated hyperbilirubinemia64 HP:0002908
20 intrahepatic cholestasis with episodic jaundice64 HP:0006575

UMLS symptoms related to Cholestasis, Benign Recurrent Intrahepatic:


diarrhea, icterus, pruritus

GenomeRNAi Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-8410.0ABCB11, ATP8B1

MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0ABCB11, ABCB4, ATP8B1, NR1H4

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
2Hematinics1684
3
Bilirubin116635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
4Protein C Inhibitor98
5Bile Acids and Salts106
6Liver Extracts4067
7Alpha 1-Antitrypsin100

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272
2China Registry for Genetic / Metabolic Liver DiseasesRecruitingNCT03131427

Search NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic

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Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic:

id Genetic test Affiliating Genes
1 Cholestasis, Benign Recurrent Intrahepatic 127
2 Benign Recurrent Intrahepatic Cholestasis, Type 124

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic

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

36
Liver

Publications for Cholestasis, Benign Recurrent Intrahepatic

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Articles related to Cholestasis, Benign Recurrent Intrahepatic:

idTitleAuthorsYear
1
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. (20955958)
2010

Variations for Cholestasis, Benign Recurrent Intrahepatic

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

70
id Symbol AA change Variation ID SNP ID
1ATP8B1p.Ile661ThrVAR_008812rs28939686
2ATP8B1p.Gly892ArgVAR_008813rs121909098
3ATP8B1p.Gly308AspVAR_043049rs28939685
4ATP8B1p.Ile344PheVAR_043050rs140665115
5ATP8B1p.Ser453TyrVAR_043056
6ATP8B1p.Asp454GlyVAR_043057
7ATP8B1p.Arg600GlnVAR_043063
8ATP8B1p.Arg600TrpVAR_043064
9ATP8B1p.Arg628TrpVAR_043065rs752045131
10ATP8B1p.Ile694ThrVAR_043068rs541474497

Clinvar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP8B1NM_ 005603.4(ATP8B1): c.2286-2A> GSNVPathogenicrs377132123GRCh37Chr 18, 55329849: 55329849
2ATP8B1NM_ 005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)SNVPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
3ATP8B1ATP8B1, 9-BP DEL, NT2384deletionPathogenic
4ATP8B1ATP8B1, IVS23AS, C-A, -3SNVPathogenic

Expression for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

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

Pathways for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

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GO Terms for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

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

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.9ABCB4, ATP8B1
2apical part of cellGO:00451779.8ABCB11, ABCB4
3intercellular canaliculusGO:00465819.0ABCB11, ABCB4
4integral component of plasma membraneGO:00058878.7ABCB11, ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1bile acid metabolic processGO:000820610.0ATP8B1, NR1H4
2drug transmembrane transportGO:00068559.7ABCB4, ATP8B1
3lipid transportGO:00068699.5ABCB4, ATP8B1
4bile acid and bile salt transportGO:00157219.4ABCB11, ATP8B1, NR1H4
5phospholipid translocationGO:00453329.1ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.5ABCB11, ABCB4
2ATPase activity, coupled to transmembrane movement of substancesGO:00426269.0ABCB11, ABCB4

Sources for Cholestasis, Benign Recurrent Intrahepatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet