Details of Disease

General Information of Disease (ID: DISBLK91)

Disease Name Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
Synonyms PFIC7
Disease Hierarchy
DIS3J8HT: Progressive familial intrahepatic cholestasis
DISBLK91: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
Disease Identifiers
MONDO ID
MONDO_0030503
UMLS CUI
C5562043
OMIM ID
619658
MedGen ID
1794253

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
USP53 OTQTAFCR Strong Autosomal recessive [1]
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References

1 New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin. J Hum Genet. 2021 Feb;66(2):151-159. doi: 10.1038/s10038-020-0811-1. Epub 2020 Aug 6.