Details of Disease | DrugMAP

General Information of Disease (ID: DIS7KNN7)

Disease Name	Cholestasis, progressive familial intrahepatic, 5
Synonyms	PFIC5; cholestasis, progressive familial intrahepatic, 5; NR1H4 progressive familial intrahepatic cholestasis; NR1H4 deficiency; cholestasis, progressive familial intrahepatic, type 5; progressive familial intrahepatic cholestasis caused by mutation in NR1H4; cholestasis, progressive familial intrahepatic, 5; PFIC5
Definition	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
Disease Hierarchy	DIS3J8HT: Progressive familial intrahepatic cholestasis DIS7KNN7: Cholestasis, progressive familial intrahepatic, 5
Disease Identifiers	MONDO ID MONDO_0014884 UMLS CUI C4310747 OMIM ID 617049 MedGen ID 934714 Orphanet ID 480476

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NR1H4	TTS4UGC	Strong	Autosomal recessive	[1]
NR1H4	TTS4UGC	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NR1H4	OTWZLPTB	Strong	Autosomal recessive	[1]
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References

1	Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. Cell. 2000 Sep 15;102(6):731-44. doi: 10.1016/s0092-8674(00)00062-3.
2	Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713.