Details of Disease | DrugMAP

General Information of Disease (ID: DISF3P78)

Disease Name	Polycystic liver disease 3 with or without kidney cysts
Synonyms	PCLD3; polycystic liver disease 3 with or without kidney cysts
Definition	Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.
Disease Hierarchy	DISJS005: Autosomal dominant polycystic liver disease DISF3P78: Polycystic liver disease 3 with or without kidney cysts
Disease Identifiers	MONDO ID MONDO_0054743 UMLS CUI C4693472 OMIM ID 617874 MedGen ID 1646969

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
ALG8	OTMFG2YY	Strong	Autosomal dominant	[1]
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References

1	PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. NPJ Genom Med. 2022 Jul 1;7(1):40. doi: 10.1038/s41525-022-00309-w.