KEGG   DISEASE: Benign recurrent intrahepatic cholestasisHelp
Entry
H02192                      Disease                                

Name
Benign recurrent intrahepatic cholestasis
Description
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ATP8B1 and ABCB11 genes, which are the same as in progressive familial intrahepatic cholestasis 1 and 2 (PFIC1 and PFIC2), and probably in at least one other as yet unidentified gene. While PFIC starts in infancy or early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe and permanent form of PFIC.
Category
Digestive system disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Liver diseases
   H02192  Benign recurrent intrahepatic cholestasis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H02192  Benign recurrent intrahepatic cholestasis
BRITE hierarchy
Pathway
hsa04976 Bile secretion   
hsa04979 Cholesterol metabolism   
Gene
(BRIC1) ATP8B1 [HSA:5205] [KO:K01530]
(BRIC2) ABCB11 [HSA:8647] [KO:K05664]
Other DBs
ICD-11: 5C58.04
ICD-10: K83.1
MeSH: D002780
OMIM: 243300 605479 9500542 15300568
Reference
  Authors
Sticova E, Jirsa M, Pawlowska J
  Title
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
  Journal
Can J Gastroenterol Hepatol 2018:2313675 (2018)
DOI:10.1155/2018/2313675
Reference
  Authors
Folvik G, Hilde O, Helge GO
  Title
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases.
  Journal
Scand J Gastroenterol 47:482-8 (2012)
DOI:10.3109/00365521.2011.650191
Reference
  Authors
van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH
  Title
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
  Journal
Best Pract Res Clin Gastroenterol 24:541-53 (2010)
DOI:10.1016/j.bpg.2010.07.010
Reference
PMID:9500542
  Authors
Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB
  Title
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
  Journal
Nat Genet 18:219-24 (1998)
DOI:10.1038/ng0398-219
Reference
  Authors
van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW
  Title
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
  Journal
Gastroenterology 127:379-84 (2004)
DOI:10.1053/j.gastro.2004.04.065

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