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 21 - 30 of 46 in total
Gene ID Gene Symbol Description Source
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
5321 PLA2G4A phospholipase A2 group IVA
5335 PLCG1 phospholipase C gamma 1
5373 PMM2 phosphomannomutase 2
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5589 PRKCSH PRKCSH beta subunit of glucosidase II
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6401 SELE selectin E
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