Details of Disease

General Information of Disease (ID: DISEUKLI)

Disease Name Cholestasis, progressive familial intrahepatic, 4
Synonyms
progressive familial intrahepatic cholestasis 4; cholestasis, progressive familial intrahepatic 4; TJP2 progressive familial intrahepatic cholestasis; progressive familial intrahepatic cholestasis type 4; cholestasis, progressive familial intrahepatic, type 4; cholestasis, progressive familial intrahepatic, 4; progressive familial intrahepatic cholestasis caused by mutation in TJP2; PFIC4; TJP2 deficit
Definition Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.
Disease Hierarchy
DIS3J8HT: Progressive familial intrahepatic cholestasis
DISEUKLI: Cholestasis, progressive familial intrahepatic, 4
Disease Identifiers
MONDO ID
MONDO_0014381
MESH ID
C535442
UMLS CUI
C2931067
OMIM ID
615878
MedGen ID
418976
Orphanet ID
480483

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TJP2 OTQUY6BV Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.