Details of Disease

General Information of Disease (ID: DISR5S7G)

Disease Name Cholestasis, progressive familial intrahepatic, 9
Synonyms cholestasis, progressive familial intrahepatic, 9; PFIC9
Disease Hierarchy
DIS3J8HT: Progressive familial intrahepatic cholestasis
DISR5S7G: Cholestasis, progressive familial intrahepatic, 9
Disease Identifiers
MONDO ID
MONDO_0030800
UMLS CUI
C5676973
OMIM ID
619849
MedGen ID
1809292

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
ZFYVE19 OT6V9IDI Strong Autosomal recessive [1]
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References

1 Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. J Med Genet. 2021 Aug;58(8):514-525. doi: 10.1136/jmedgenet-2019-106706. Epub 2020 Jul 31.