Details of Disease | DrugMAP

General Information of Disease (ID: DISNSG52)

Disease Name	Polycystic kidney disease 4
Synonyms	hepatic fibrosis, congenital; PKD4; PKD3; PKD3, formerly; polycystic kidney and hepatic disease 1; polycystic kidney disease 4 with or without hepatic disease; polycystic kidney disease 4 with or without polycystic liver disease; polycystic kidney disease, autosomal recessive; polycystic kidney disease, infantile, type 1; polycystic kidney disease 4; polycystic kidney disease 4, with or without hepatic disease
Definition	A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.
Disease Hierarchy	DISWS3UY: Polycystic kidney disease DISPUS40: Autosomal recessive polycystic kidney disease DISNSG52: Polycystic kidney disease 4
Disease Identifiers	MONDO ID MONDO_0033004 UMLS CUI C4540575 MedGen ID 1621793

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
PKHD1	OTAH8SMF	Definitive	Autosomal recessive	[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.