MCID: CHL120
MIFTS: 45

Cholestasis, Benign Recurrent Intrahepatic 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
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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 low gamma-gt familial intrahepatic cholestasis and cholestasis, benign recurrent intrahepatic, 2, and has symptoms including pruritus, weight loss and anorexia. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways are Hepatic ABC Transporters and Synthesis of bile acids and bile salts. Affiliated tissues include liver, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region.

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.

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...

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

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

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1low gamma-gt familial intrahepatic cholestasis12.6
2cholestasis, benign recurrent intrahepatic, 212.5
3abcb11-related intrahepatic cholestasis12.2
4atp8b1-related intrahepatic cholestasis12.2
5cholestasis, progressive familial intrahepatic 111.2
6intrahepatic cholestasis10.4
7cholestasis10.3
8lrp5-related autosomal dominant osteopetrosis9.9ABCB11, ATP8B1
9amyotrophic lateral sclerosis 39.9ABCB11, ATP8B1
10dermatomyositis9.6ABCB4, NR1H4
11paranasal sinus sarcoma9.5ABCB11, ABCB4
12adult-onset leukoencephalopathy with axonal spheroids and pigmented glia9.5ABCB11, ATP8B1, NR1H4
13dyserythropoietic anemia, congenital, type ii9.5ABCB4, ATP8B1
14ascending cholangitis9.5ABCB11, ABCB4
15perianal skin paget's disease9.5ABCB11, ABCB4
16lipid storage disease9.2ABCB11, ABCB4
17lymphoblastic lymphoma9.2ABCB11, ABCB4, ATP8B1
18prostate cancer, progression and metastasis of9.2ABCB11, ABCB4, NR1H4
19cholestasis, intrahepatic, of pregnancy, 18.8ABCB11, ABCB4, ATP8B1, NR1H4
20intraorbital meningioma8.8ABCB11, ABCB4, ATP8B1, NR1H4
21perianal hematoma8.8ABCB11, ABCB4, ATP8B1, NR1H4
22giant cell reparative granuloma8.8ABCB11, ABCB4, ATP8B1, NR1H4
23female infertility of uterine origin8.8ABCB11, 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:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus64 54 hallmark (90%) Very frequent (99-80%) HP:0000989
2 weight loss64 54 hallmark (90%) Very frequent (99-80%) HP:0001824
3 anorexia64 54 hallmark (90%) Very frequent (99-80%) HP:0002039
4 elevated hepatic transaminases64 54 hallmark (90%) Very frequent (99-80%) HP:0002910
5 abnormality of urine homeostasis64 hallmark (90%) HP:0003110
6 nausea and vomiting64 54 typical (50%) Frequent (79-30%) HP:0002017
7 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
8 biliary tract abnormality64 occasional (7.5%) HP:0001080
9 cirrhosis64 54 occasional (7.5%) Occasional (29-5%) HP:0001394
10 pancreatitis64 54 occasional (7.5%) Occasional (29-5%) HP:0001733
11 malabsorption64 occasional (7.5%) HP:0002024
12 abdominal pain64 54 occasional (7.5%) Occasional (29-5%) HP:0002027
13 neoplasm of the liver64 occasional (7.5%) HP:0002896
14 intermittent jaundice64 HP:0001046
15 intrahepatic cholestasis64 HP:0001406
16 hepatomegaly64 HP:0002240
17 biliary cirrhosis64 HP:0002613
18 conjugated hyperbilirubinemia64 HP:0002908
19 jaundice54 Very frequent (99-80%)
20 cholelithiasis54 Occasional (29-5%)
21 hepatocellular carcinoma54 Occasional (29-5%)
22 chronic diarrhea54 Occasional (29-5%)
23 cholestatic liver disease54 Very frequent (99-80%)
24 acholic stools54 Very frequent (99-80%)
25 fatigue54 Very frequent (99-80%)

UMLS symptoms related to Cholestasis, Benign Recurrent Intrahepatic:


diarrhea, hepatomegaly, pruritus, yellow complexion, hepatocellular jaundice

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-5810.2ABCB11, ATP8B1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.7ABCB11, ABCB4, ATP8B1, NR1H4
2MP: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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Protein C Inhibitor97
2Liver Extracts3868
3Bile Acids and Salts102
4Alpha 1-Antitrypsin99

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)RecruitingNCT00571272

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 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP8B1NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter)SNVPathogenicrs515726137GRCh37Chr 18, 55336654: 55336654
2ATP8B1NM_005603.4(ATP8B1): c.625C> A (p.Pro209Thr)SNVPathogenicrs515726138GRCh38Chr 18, 57697797: 57697797
3ABCB4NM_018849.2(ABCB4): c.394_400delTATATAC (p.Tyr132Lysfs)deletionPathogenicrs387906526GRCh37Chr 7, 87082396: 87082402
4ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)SNVPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
5ABCB4NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)deletionPathogenicrs387906527GRCh37Chr 7, 87069002: 87069002
6ABCB4NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe)SNVPathogenicrs72552778GRCh37Chr 7, 87076396: 87076396
7ABCB4NM_018849.2(ABCB4): c.2169dupG (p.Leu724Alafs)duplicationPathogenicrs387906529GRCh37Chr 7, 87053264: 87053264
8ABCB4NM_018849.2(ABCB4): c.1207T> C (p.Tyr403His)SNVPathogenicrs121918443GRCh37Chr 7, 87073002: 87073002
9ABCB4NM_018849.2(ABCB4): c.2211+1G> ASNVPathogenicrs794727183GRCh37Chr 7, 87053221: 87053221
10NR1H4NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys)insertionPathogenicrs879255644GRCh37Chr 12, 100904895: 100904896
11NR1H4NC_000012.11: g.100886254_100917988del31735deletionPathogenicGRCh37Chr 12, 100886254: 100917988
12NR1H4NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter)SNVPathogenicrs113090017GRCh37Chr 12, 100926316: 100926316
13ABCB4NM_018849.2(ABCB4): c.2833C> T (p.Gln945Ter)SNVPathogenicrs886042562GRCh37Chr 7, 87041300: 87041300
14ABCB4NM_018849.2(ABCB4): c.2626A> T (p.Lys876Ter)SNVPathogenicrs886043725GRCh37Chr 7, 87046684: 87046684
15ABCB4NM_018849.2(ABCB4): c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer)indelPathogenicrs886043734GRCh37Chr 7, 87046684: 87046685
16ATP8B1NM_005603.4(ATP8B1): c.3410C> G (p.Ser1137Ter)SNVPathogenicrs74414989GRCh37Chr 18, 55317720: 55317720
17ATP8B1NM_005603.4(ATP8B1): c.279G> A (p.Ala93=)SNVPathogenicrs761575295GRCh37Chr 18, 55373722: 55373722
18ATP8B1NM_005603.4(ATP8B1): c.2286-2A> GSNVPathogenicrs377132123GRCh37Chr 18, 55329849: 55329849
19ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)SNVPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
20ATP8B1NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)SNVPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
21ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)SNVPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
22ATP8B1NM_005603.4(ATP8B1): c.2097+2T> CSNVPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
23ATP8B1ATP8B1, 1.4-KB DELdeletionPathogenicChr na, -1: -1
24ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)SNVPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
25ATP8B1ATP8B1, 9-BP DEL, NT2384deletionPathogenicChr na, -1: -1
26ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)SNVPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
27ATP8B1ATP8B1, IVS23AS, C-A, -3SNVPathogenicChr na, -1: -1
28ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)SNVPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
29ATP8B1NM_005603.4(ATP8B1): c.1804C> T (p.Arg602Ter)SNVPathogenicrs121909105GRCh37Chr 18, 55342081: 55342081

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
1intercellular canaliculusGO:00465819.3ABCB11, ABCB4
2integral component of plasma membraneGO:00058879.0ABCB11, ABCB4, ATP8B1

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

idNameGO IDScoreTop Affiliating Genes
1drug transmembrane transportGO:00068559.7ABCB4, ATP8B1
2bile acid metabolic processGO:00082069.6ATP8B1, NR1H4
3phospholipid translocationGO:00453329.3ABCB4, ATP8B1
4bile acid and bile salt transportGO:00157219.1ABCB11, ATP8B1, NR1H4

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