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 entry 31 - 31 of 31 in total
Gene ID Gene Symbol Description Source
151306 GPBAR1 G protein-coupled bile acid receptor 1
Displaying entries 11 - 20 of 27 in total
Gene ID Gene Symbol Description Source
16973 Lrp5 low density lipoprotein receptor-related protein 5
17395 Mmp9 matrix metallopeptidase 9
17869 Myc myelocytomatosis oncogene
18763 Pkd1 polycystin 1, transient receptor potential channel interacting
18764 Pkd2 polycystin 2, transient receptor potential cation channel
20505 Slc34a1 solute carrier family 34 (sodium phosphate), member 1
20750 Spp1 secreted phosphoprotein 1
20852 Stat6 signal transducer and activator of transcription 6
53871 Pkd2l2 polycystic kidney disease 2-like 2
56717 Mtor mechanistic target of rapamycin kinase
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
170496 Lcn2 lipocalin 2
295703 Serping1 serpin family G member 1
338443 Gpbar1 G protein-coupled bile acid receptor 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32661 if inflated
34091 Spn28Dc Serpin 28Dc
Displaying all 3 entries
Gene ID Gene Symbol Description Source
30686 myca MYC proto-oncogene, bHLH transcription factor a
393141 mycb MYC proto-oncogene, bHLH transcription factor b
432387 pkd2 polycystic kidney disease 2
Displaying all 7 entries
Gene ID Gene Symbol Description Source
176240 pat-2 Integrin alpha pat-2
177668 C49C8.5 Fibrinogen C-terminal domain-containing protein
177911 Y43C5A.2 Fibrinogen C-terminal domain-containing protein
178424 pkd-2 Polycystin-2
178748 zmp-3 Matrix metalloproteinase-C
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024