Details of Disease

General Information of Disease (ID: DISROVPU)

Disease Name Polycystic liver disease 4 with or without kidney cysts
Synonyms PCLD4; polycystic liver disease 4 with or without kidney cysts
Definition
An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.
Disease Hierarchy
DISJS005: Autosomal dominant polycystic liver disease
DISROVPU: Polycystic liver disease 4 with or without kidney cysts
Disease Identifiers
MONDO ID
MONDO_0044327
UMLS CUI
C4693479
OMIM ID
617875
MedGen ID
1644991

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
LRP5 TT7VMG4 Strong Autosomal dominant [1]
LRP5 TT7VMG4 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRP5 OTCC4JPH Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Isolated polycystic liver disease genes define effectors of polycystin-1 function.J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4.