Details of Disease | DrugMAP

General Information of Disease (ID: DIS7BFN7)

Disease Name	Benign recurrent intrahepatic cholestasis
Synonyms	cholestasis, benign recurrent intrahepatic; Summerskill-Walshe-Tygstrup syndrome; Bric
Definition	Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).
Disease Hierarchy	DIS5RL11: Familial intrahepatic cholestasis DISFGCQF: Inborn disorder of bilirubin metabolism DIS7BFN7: Benign recurrent intrahepatic cholestasis
Disease Identifiers	MONDO ID MONDO_0019008 UMLS CUI C0149841 MedGen ID 57703 Orphanet ID 65682 SNOMED CT ID 31155007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCB11	TTUXCAF	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GGTLC1	OTWJKUHQ	Strong	Altered Expression	[2]
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References

1	Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.PLoS One. 2015 Dec 17;10(12):e0145021. doi: 10.1371/journal.pone.0145021. eCollection 2015.
2	Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.J Pediatr. 2016 Apr;171:171-7.e1-4. doi: 10.1016/j.jpeds.2016.01.006. Epub 2016 Feb 5.