Details of Disease

General Information of Disease (ID: DISTF4Z6)

Disease Name Cholestasis, progressive familial intrahepatic, 10
Synonyms cholestasis, progressive familial intrahepatic, 10; PFIC10
Disease Hierarchy
DIS3J8HT: Progressive familial intrahepatic cholestasis
DISTF4Z6: Cholestasis, progressive familial intrahepatic, 10
Disease Identifiers
MONDO ID
MONDO_0030810
UMLS CUI
C5676981
OMIM ID
619868
MedGen ID
1807702

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
MYO5B OTCKL3W3 Strong Autosomal recessive [1]
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References

1 MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology. 2017 Jan;65(1):164-173. doi: 10.1002/hep.28779. Epub 2016 Oct 5.