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

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cholestasis, Benign Recurrent Intrahepatic:

Name: Cholestasis, Benign Recurrent Intrahepatic 49 11 47
Benign Recurrent Intrahepatic Cholestasis 45 23 51 65
Bric1 45 22 51 67
Bric 45 23 51
Cholestasis, Benign Recurrent Intrahepatic, 1 67 24
Recurrent Familial Intrahepatic Cholestasis 23 67
Summerskill-Walshe-Tygstrup Syndrome 45 51
Summerskill Syndrome 45 67
Benign Recurrent Intrahepatic Cholestasis, Type 1 22
Benign Recurrent Intrahepatic Cholestasis Type 1 51
Cholestasis, Progressive Familial Intrahepatic 3 65
 
Low Gamma-Gt Familial Intrahepatic Cholestasis 23
Recurrent Familial Intrahepatic Cholestasis 1 45
Cholestasis, Benign Recurrent Intrahepatic 1 45
Benign Recurrent Intrahepatic Cholestasis 1 45
Atp8b1-Related Intrahepatic Cholestasis 23
Abcb11-Related Intrahepatic Cholestasis 23
Progressive Intrahepatic Cholestasis 65
Mild Atp8b1 Deficiency 45
Bric Type 1 51
Bric-1 22

Characteristics:

Orphanet epidemiological data:

51
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

61
cholestasis, benign recurrent intrahepatic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 243300
Orphanet51 65682, 99960
ICD10 via Orphanet28 K83.1
UMLS via Orphanet66 C0149841, C1855731
MESH via Orphanet37 C535930
MedGen34 C1855731
MeSH36 D002780
UMLS65 C0149841, C0268312, C1865643

Summaries for Cholestasis, Benign Recurrent Intrahepatic

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NIH Rare Diseases:45 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, eye and skin, and related mouse phenotype liver/biliary system.

Genetics Home Reference:23 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:49 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic... (243300) more...

UniProtKB/Swiss-Prot:67 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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Graphical network of 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:

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

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 Inhibitor85
2Liver Extracts3572
3Bile Acids and Salts86
4Alpha 1-Antitrypsin87

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 Benign Recurrent Intrahepatic Cholestasis, Type 122

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5ABCB11, ATP8B1

Publications for Cholestasis, Benign Recurrent Intrahepatic

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Articles related to Cholestasis, Benign Recurrent Intrahepatic:

idTitleAuthorsYear
1
The urodynamic consequences of posterior urethral valves. (2359158)
1990

Variations for Cholestasis, Benign Recurrent Intrahepatic

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

67
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:

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

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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
1membraneGO:00160209.1ABCB11, ATP8B1
2integral component of plasma membraneGO:00058878.8ABCB11, ATP8B1

Sources for Cholestasis, Benign Recurrent Intrahepatic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet