autosomal dominant polycystic kidney disease

Summary
Synonym
  • ADPKD
  • Congenital biliary ectasias
  • POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Definition
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
Super Class
autosomal dominant disease polycystic kidney disease
Disease Ontology
DOID:898
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2475 MTOR mechanistic target of rapamycin kinase
4041 LRP5 LDL receptor related protein 5
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
Displaying all 2 entries
Gene ID Gene Symbol Description Source
17869 Myc myelocytomatosis oncogene
18764 Pkd2 polycystin 2, transient receptor potential cation channel
Displaying 1 entry
Gene ID Gene Symbol Description Source
432387 pkd2 polycystic kidney disease 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
178424 pkd-2 Polycystin-2
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025