MCID: CHL120
MIFTS: 38

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

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Benign Recurrent Intrahepatic:

Name: Cholestasis, Benign Recurrent Intrahepatic 50 12 48
Benign Recurrent Intrahepatic Cholestasis 46 24 52 66
Bric1 46 23 52 68
Bric 46 24 52
Benign Recurrent Intrahepatic Cholestasis Type 1 52 25
Cholestasis, Benign Recurrent Intrahepatic, 1 50 68
Recurrent Familial Intrahepatic Cholestasis 24 68
Summerskill-Walshe-Tygstrup Syndrome 46 52
Summerskill Syndrome 46 68
Benign Recurrent Intrahepatic Cholestasis, Type 1 23
Cholestasis, Progressive Familial Intrahepatic 3 66
 
Low Gamma-Gt Familial Intrahepatic Cholestasis 24
Recurrent Familial Intrahepatic Cholestasis 1 46
Cholestasis, Benign Recurrent Intrahepatic 1 46
Benign Recurrent Intrahepatic Cholestasis 1 46
Atp8b1-Related Intrahepatic Cholestasis 24
Abcb11-Related Intrahepatic Cholestasis 24
Progressive Intrahepatic Cholestasis 66
Mild Atp8b1 Deficiency 46
Bric Type 1 52
Bric-1 23

Characteristics:

Orphanet epidemiological data:

52
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
cholestasis, benign recurrent intrahepatic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 243300
ICD10 via Orphanet29 K83.1
UMLS via Orphanet67 C0149841, C1855731
MESH via Orphanet38 C535930
MedGen35 C1855731
MeSH37 D002780

Summaries for Cholestasis, Benign Recurrent Intrahepatic

About this section
NIH Rare Diseases:46 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 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). Affiliated tissues include liver, skin and eye, and related mouse phenotype liver/biliary system.

Genetics Home Reference:24 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:50 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic... (243300) more...

UniProtKB/Swiss-Prot:68 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

About this section

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



Diseases related to cholestasis, benign recurrent intrahepatic

Symptoms for Cholestasis, Benign Recurrent Intrahepatic

About this section

Symptoms by clinical synopsis from OMIM:

243300

Clinical features from OMIM:

243300

Symptoms:

 52 (show all 16)
  • hearing impairment
  • jaundice
  • pruritus
  • cholelithiasis
  • cirrhosis
  • hepatocellular carcinoma
  • pancreatitis
  • weight loss
  • nausea and vomiting
  • abdominal pain
  • chronic diarrhea
  • anorexia
  • cholestatic liver disease
  • elevated hepatic transaminases
  • acholic stools
  • fatigue

HPO human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:

(show all 20)
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 pruritus HP:0000989
15 intermittent jaundice HP:0001046
16 intrahepatic cholestasis HP:0001406
17 pancreatitis HP:0001733
18 hepatomegaly HP:0002240
19 biliary cirrhosis HP:0002613
20 conjugated hyperbilirubinemia HP:0002908

UMLS symptoms related to Cholestasis, Benign Recurrent Intrahepatic:


diarrhea, hepatomegaly, pruritus, yellow complexion, hepatocellular jaundice

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic

About this section

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

About this section

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic:

id Genetic test Affiliating Genes
1 Cholestasis, Benign Recurrent Intrahepatic 125
2 Benign Recurrent Intrahepatic Cholestasis, Type 123

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic

About this section

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

34
Liver, Skin, Eye

Animal Models for Cholestasis, Benign Recurrent Intrahepatic or affiliated genes

About this section

MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.6ABCB11, ATP8B1

Publications for Cholestasis, Benign Recurrent Intrahepatic

About this section

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

About this section

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

68
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.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
2ATP8B1ATP8B1, 9-BP DEL, NT2384deletionPathogenic
3ATP8B1ATP8B1, IVS23AS, C-A, -3single nucleotide variantPathogenic

Expression for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

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

Pathways for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

About this section

GO Terms for genes affiliated with Cholestasis, Benign Recurrent Intrahepatic

About this section

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

idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:00157219.1ABCB11, ATP8B1

Sources for Cholestasis, Benign Recurrent Intrahepatic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet