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
External Links
Disease Ontology
DOID:898
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 41 - 46 of 46 in total
Gene ID Gene Symbol Description Source
79053 ALG8 ALG8 alpha-1,3-glucosyltransferase
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
114780 PKD1L2 polycystin 1 like 2 (gene/pseudogene)
145173 B3GLCT beta 3-glucosyltransferase
283871 PGP phosphoglycolate phosphatase
342372 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting
Displaying 1 entry
Gene ID Gene Symbol Description Source
16973 Lrp5 low density lipoprotein receptor-related protein 5

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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: August 19, 2024