MCID: CHL120
MIFTS: 50

Cholestasis, Benign Recurrent Intrahepatic malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Reproductive diseases, Respiratory diseases categories

Summaries for Cholestasis, Benign Recurrent Intrahepatic

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NIH Rare Diseases:41 Benign recurrent intrahepatic cholestasis 1 (bric1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. these episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years. most people with bric1 have their first episode of cholestasis in their teens or twenties. symptoms often present with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. bric1 is caused by mutations in the atp8b1 gene. this condition is inherited in an autosomal recessive pattern.   bric1 generally does not cause lasting damage to the liver. however, in rare cases, episodes of liver dysfunction may 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. last updated: 1/14/2013

MalaCards based summary: Cholestasis, Benign Recurrent Intrahepatic, also known as cholestasis, benign recurrent intrahepatic 1, is related to low gamma-gt familial intrahepatic cholestasis and cholestasis, and has symptoms including pruritus, weight loss and anorexia. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Hepatic ABC Transporters and Bile secretion. The compounds glycocholate and rhodamine 123 have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related mouse phenotype liver/biliary system.

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.

OMIM:45 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic... (243300) more...

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Cholestasis, Benign Recurrent Intrahepatic, Aliases & Descriptions:

Name: Cholestasis, Benign Recurrent Intrahepatic 45 10 43
Cholestasis, Benign Recurrent Intrahepatic 1 41 20 60
Benign Recurrent Intrahepatic Cholestasis 21 47 60
Benign Recurrent Intrahepatic Cholestasis Type 1 47 22
Bric1 41 47
Bric 21 47
Cholestasis, Progressive Familial Intrahepatic 3 60
Low Gamma-Gt Familial Intrahepatic Cholestasis 21
 
Recurrent Familial Intrahepatic Cholestasis 1 41
Benign Recurrent Intrahepatic Cholestasis 1 41
Recurrent Familial Intrahepatic Cholestasis 21
Atp8b1-Related Intrahepatic Cholestasis 21
Abcb11-Related Intrahepatic Cholestasis 21
Summerskill-Walshe-Tygstrup Syndrome 47
Summerskill Syndrome 41
Bric Type 1 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 243300
Orphanet47 65682, 99960
ICD10 via Orphanet26 K83.1
UMLS via Orphanet61 C0149841, C1855731
MESH via Orphanet34 C535930

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic

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



Diseases related to cholestasis, benign recurrent intrahepatic

Symptoms for Cholestasis, Benign Recurrent Intrahepatic

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Symptoms by clinical synopsis from OMIM:

243300

Clinical features from OMIM:

243300

Symptoms:

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

HPO human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:

(show all 21)
id Description Frequency HPO Source Accession
1 pruritus hallmark (90%) HP:0000989
2 weight loss hallmark (90%) HP:0001824
3 anorexia hallmark (90%) HP:0002039
4 elevated hepatic transaminases hallmark (90%) HP:0002910
5 abnormality of urine homeostasis hallmark (90%) HP:0003110
6 nausea and vomiting typical (50%) HP:0002017
7 hearing impairment occasional (7.5%) HP:0000365
8 biliary tract abnormality occasional (7.5%) HP:0001080
9 cirrhosis occasional (7.5%) HP:0001394
10 pancreatitis occasional (7.5%) HP:0001733
11 malabsorption occasional (7.5%) HP:0002024
12 abdominal pain occasional (7.5%) HP:0002027
13 neoplasm of the liver occasional (7.5%) HP:0002896
14 autosomal recessive inheritance HP:0000007
15 pruritus HP:0000989
16 intermittent jaundice HP:0001046
17 intrahepatic cholestasis HP:0001406
18 pancreatitis HP:0001733
19 hepatomegaly HP:0002240
20 biliary cirrhosis HP:0002613
21 conjugated hyperbilirubinemia HP:0002908

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic

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Drug clinical trials:

Search ClinicalTrials for Cholestasis, Benign Recurrent Intrahepatic

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 Benign Recurrent Intrahepatic Cholestasis, Type 120
2 Benign Recurrent Intrahepatic Cholestasis 122

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic

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

31
Liver, Eye, Skin

Animal Models for Cholestasis, Benign Recurrent Intrahepatic or affiliated genes

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MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ATP8B1, ABCB11, ABCB4

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:

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

Clinvar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)single nucleotide variantPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
2ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
3ATP8B1ATP8B1, 9-BP DEL, NT2384deletionPathogenic
4ATP8B1ATP8B1, IVS23AS, C-A, -3single nucleotide variantPathogenic

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ABCB11, ABCB4
29.1ABCB11, ABCB4
3
Show member pathways
9.1ABCB11, ABCB4
49.1ABCB11, ABCB4

Compounds for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Cholestasis, Benign Recurrent Intrahepatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 1087)
idCompoundScoreTop Affiliating Genes
1glycocholate439.6ABCB4, ABCB11
2rhodamine 12343 4910.6ABCB4, ABCB11
3ursodeoxycholic acid43 24 1211.6ABCB11, ABCB4
4chenodeoxycholic acid43 28 24 1212.6ABCB11, ABCB4
5PC(P-18:1(11Z)/18:4(6Z,9Z,12Z,15Z))249.5ATP8B1, ABCB4
6PC(P-18:1(11Z)/20:0)249.5ATP8B1, ABCB4
7PC(P-18:1(11Z)/20:1(11Z))249.5ATP8B1, ABCB4
8PC(P-18:1(11Z)/22:5(7Z,10Z,13Z,16Z,19Z))249.5ATP8B1, ABCB4
9PC(P-18:1(11Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.5ATP8B1, ABCB4
10PC(P-18:1(11Z)/18:3(9Z,12Z,15Z))249.5ABCB4, ATP8B1
11PC(P-18:1(11Z)/18:3(6Z,9Z,12Z))249.5ABCB4, ATP8B1
12PC(P-18:0/22:5(4Z,7Z,10Z,13Z,16Z))249.4ATP8B1, ABCB4
13PC(P-18:0/22:5(7Z,10Z,13Z,16Z,19Z))249.4ATP8B1, ABCB4
14PC(P-18:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.4ATP8B1, ABCB4
15PC(P-18:1(11Z)/18:2(9Z,12Z))249.4ATP8B1, ABCB4
16PC(P-18:1(11Z)/24:0)249.4ATP8B1, ABCB4
17PC(P-18:1(9Z)/20:2(11Z,14Z))249.4ATP8B1, ABCB4
18PC(P-18:1(9Z)/20:3(5Z,8Z,11Z))249.4ATP8B1, ABCB4
19PC(P-18:1(9Z)/20:3(8Z,11Z,14Z))249.4ATP8B1, ABCB4
20PC(P-18:1(9Z)/20:4(5Z,8Z,11Z,14Z))249.4ATP8B1, ABCB4
21PC(P-18:1(9Z)/24:1(15Z))249.4ATP8B1, ABCB4
22PC(P-18:1(9Z)/20:1(11Z))249.4ABCB4, ATP8B1
23PC(P-18:1(11Z)/24:1(15Z))249.4ATP8B1, ABCB4
24PC(P-18:1(9Z)/14:0)249.4ATP8B1, ABCB4
25PC(P-18:1(9Z)/14:1(9Z))249.4ATP8B1, ABCB4
26PC(P-18:1(9Z)/20:0)249.4ATP8B1, ABCB4
27PC(P-16:0/15:0)249.4ATP8B1, ABCB4
28PC(P-16:0/18:2(9Z,12Z))249.4ATP8B1, ABCB4
29PC(P-16:0/20:4(8Z,11Z,14Z,17Z))249.4ATP8B1, ABCB4
30PC(P-16:0/20:5(5Z,8Z,11Z,14Z,17Z))249.4ATP8B1, ABCB4
31PC(P-16:0/22:0)249.4ATP8B1, ABCB4
32PC(P-16:0/22:1(13Z))249.3ATP8B1, ABCB4
33PC(P-16:0/18:1(9Z))249.3ABCB4, ATP8B1
34PC(P-16:0/16:0)249.3ATP8B1, ABCB4
35PC(P-16:0/16:1(9Z))249.3ATP8B1, ABCB4
36PC(P-16:0/18:0)249.3ATP8B1, ABCB4
37PC(P-16:0/18:1(11Z))249.3ATP8B1, ABCB4
38PC(P-16:0/22:2(13Z,16Z))249.3ATP8B1, ABCB4
39PC(P-18:0/18:3(6Z,9Z,12Z))249.3ATP8B1, ABCB4
40PC(P-18:0/18:3(9Z,12Z,15Z))249.2ATP8B1, ABCB4
41PC(P-18:0/22:1(13Z))249.2ATP8B1, ABCB4
42PC(P-18:0/22:2(13Z,16Z))249.2ATP8B1, ABCB4
43PC(P-18:0/22:4(7Z,10Z,13Z,16Z))249.1ATP8B1, ABCB4
44PC(P-18:0/18:2(9Z,12Z))249.1ABCB4, ATP8B1
45PC(P-16:0/22:4(7Z,10Z,13Z,16Z))249.0ATP8B1, ABCB4
46PC(P-18:0/18:1(9Z))249.0ATP8B1, ABCB4
47taurocholate439.0ABCB4, ATP8B1, ABCB11
48cholesterol43 28 24 1212.0ATP8B1, ABCB11, ABCB4
49PC(P-18:0/18:0)248.9ATP8B1, ABCB4
50PC(P-18:0/18:1(11Z))248.7ATP8B1, ABCB4

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:00465819.0ABCB11, ABCB4
2integral component of plasma membraneGO:00058878.5ATP8B1, ABCB11, ABCB4
3apical plasma membraneGO:00163248.2ATP8B1, ABCB11, ABCB4

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

idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:00157219.2ATP8B1, ABCB11
2bile acid metabolic processGO:00082069.0ATP8B1, ABCB11
3transmembrane transportGO:00550858.5ATP8B1, ABCB11, ABCB4

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426268.8ABCB11, ABCB4
2ATP bindingGO:00055248.5ATP8B1, ABCB11, ABCB4

Products for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

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Sources for Cholestasis, Benign Recurrent Intrahepatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet