Details of Disease | DrugMAP

General Information of Disease (ID: DISVT2LV)

Disease Name	Progressive familial intrahepatic cholestasis type 3
Synonyms	Mdr3 deficiency; cholestasis, progressive familial intrahepatic, 3; cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase; progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase; cholestasis, progressive familial intrahepatic, type 3; cholestasis, progressive familial intrahepatic 3; progressive familial intrahepatic cholestasis caused by mutation in ABCB4; MDR3 Deficiency; PFIC3; ABCB4 progressive familial intrahepatic cholestasis
Definition	Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Disease Hierarchy	DIS3J8HT: Progressive familial intrahepatic cholestasis DISVT2LV: Progressive familial intrahepatic cholestasis type 3
Disease Identifiers	MONDO ID MONDO_0011214 MESH ID C535935 UMLS CUI C1865643 OMIM ID 602347 MedGen ID 356333 Orphanet ID 79305 SNOMED CT ID 1186865008

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
ABCB11	TTUXCAF	Strong	Biomarker	[1]
ABCB4	TTJUXV6	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB4	DTZRMK5	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP8B1	OTALGS63	Strong	Genetic Variation	[4]
ABCB4	OTE6PY83	Definitive	Autosomal recessive	[3]
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References

1	Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.Ann Transplant. 2018 Sep 25;23:666-673. doi: 10.12659/AOT.909941.
2	Clinical utility of genomic analysis in adults with idiopathic liver disease.J Hepatol. 2019 Jun;70(6):1214-1221. doi: 10.1016/j.jhep.2019.01.036. Epub 2019 Apr 15.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.J Hum Genet. 2010 May;55(5):308-13. doi: 10.1038/jhg.2010.28. Epub 2010 Apr 23.