MCID: CHL120
MIFTS: 39

Cholestasis, Benign Recurrent Intrahepatic

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

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic:

Name: Cholestasis, Benign Recurrent Intrahepatic 54 13 52
Benign Recurrent Intrahepatic Cholestasis 50 25 56 69
Bric1 50 24 56 71
Bric 50 25 56
Cholestasis, Benign Recurrent Intrahepatic 1 50 29
Recurrent Familial Intrahepatic Cholestasis 25 71
Summerskill-Walshe-Tygstrup Syndrome 50 56
Summerskill Syndrome 50 71
Benign Recurrent Intrahepatic Cholestasis, Type 1 24
Cholestasis, Progressive Familial Intrahepatic 3 69
Benign Recurrent Intrahepatic Cholestasis Type 1 56
Low Gamma-Gt Familial Intrahepatic Cholestasis 25
Recurrent Familial Intrahepatic Cholestasis 1 50
Cholestasis, Benign Recurrent Intrahepatic, 1 71
Benign Recurrent Intrahepatic Cholestasis 1 50
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 69
Mild Atp8b1 Deficiency 50
Bric Type 1 56
Bric-1 24

Characteristics:

Orphanet epidemiological data:

56
benign recurrent intrahepatic cholestasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
allelic disorder to intrahepatic cholestasis of pregnancy (icp, )
variable age at onset, range from infancy to adulthood
variable frequency and severity
allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, )


HPO:

32
cholestasis, benign recurrent intrahepatic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis, Benign Recurrent Intrahepatic

NIH Rare Diseases : 50 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 jaundice, fatigue and pancreatitis. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic is ATP8B1 (ATPase Phospholipid Transporting 8B1). The drugs Iron and Alpha 1-Antitrypsin have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotype is Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot : 71 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 : 54
Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989). Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' (243300)

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic

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

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Liver:
hepatomegaly
jaundice, episodic
progression to end-stage liver disease does not occur
intrahepatic cholestasis, episodic, recurrent

Laboratory- Abnormalities:
conjugated hyperbilirubinemia
increased serum bile acids
normal or mildly increased serum gamma-ggt

Abdomen- Pancreas:
pancreatitis

Skin Nails & Hair- Skin:
jaundice, episodic
pruritus, episodic


Clinical features from OMIM:

243300

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
2 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 pancreatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001733
4 cholestatic liver disease 56 32 hallmark (90%) Very frequent (99-80%) HP:0002611
5 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
6 cholelithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001081
7 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
8 hepatocellular carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001402
9 weight loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0001824
10 pruritus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000989
11 chronic diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002028
12 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
13 anorexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002039
14 elevated hepatic transaminases 56 32 hallmark (90%) Very frequent (99-80%) HP:0002910
15 nausea and vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002017
16 acholic stools 56 32 hallmark (90%) Very frequent (99-80%) HP:0011985
17 hepatomegaly 32 HP:0002240
18 conjugated hyperbilirubinemia 32 HP:0002908
19 intermittent jaundice 32 HP:0001046
20 intrahepatic cholestasis with episodic jaundice 32 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.17 ATP8B1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.17 ABCB11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.17 ATP8B1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.17 ABCB11 ATP8B1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.17 ATP8B1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.17 ABCB11

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925
2 Alpha 1-Antitrypsin
3 Bile Acids and Salts
4 Liver Extracts
5 Protein C Inhibitor
6
Bilirubin 635-65-4 5280352
7 Hematinics

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
2 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care

Search NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic:

id Genetic test Affiliating Genes
1 Cholestasis, Benign Recurrent Intrahepatic 1 29
2 Benign Recurrent Intrahepatic Cholestasis, Type 1 24

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic

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

39
Liver

Publications for Cholestasis, Benign Recurrent Intrahepatic

Articles related to Cholestasis, Benign Recurrent Intrahepatic:

id Title Authors Year
1
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. ( 20955958 )
2010

Variations for Cholestasis, Benign Recurrent Intrahepatic

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

71
id Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Ile661Thr VAR_008812 rs28939686
2 ATP8B1 p.Gly892Arg VAR_008813 rs121909098
3 ATP8B1 p.Gly308Asp VAR_043049 rs28939685
4 ATP8B1 p.Ile344Phe VAR_043050 rs140665115
5 ATP8B1 p.Ser453Tyr VAR_043056
6 ATP8B1 p.Asp454Gly VAR_043057
7 ATP8B1 p.Arg600Gln VAR_043063
8 ATP8B1 p.Arg600Trp VAR_043064
9 ATP8B1 p.Arg628Trp VAR_043065 rs752045131
10 ATP8B1 p.Ile694Thr VAR_043068 rs541474497

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh37 Chromosome 18, 55336665: 55336665
2 ATP8B1 ATP8B1, 9-BP DEL, NT2384 deletion Pathogenic
3 ATP8B1 ATP8B1, IVS23AS, C-A, -3 single nucleotide variant Pathogenic
4 ATP8B1 NM_005603.5(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh37 Chromosome 18, 55329849: 55329849

Expression for Cholestasis, Benign Recurrent Intrahepatic

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

Pathways for Cholestasis, Benign Recurrent Intrahepatic

GO Terms for Cholestasis, Benign Recurrent Intrahepatic

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

id Name GO ID Score Top Affiliating Genes
1 bile acid and bile salt transport GO:0015721 8.62 ABCB11 ATP8B1

Sources for Cholestasis, Benign Recurrent Intrahepatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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