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 entries 1 - 10 of 31 in total
Gene ID Gene Symbol Description Source
285 ANGPT2 angiopoietin 2
629 CFB complement factor B
710 SERPING1 serpin family G member 1
735 C9 complement C9
929 CD14 CD14 molecule
1906 EDN1 endothelin 1
2318 FLNC filamin C
2353 FOS Fos proto-oncogene, AP-1 transcription factor subunit
2475 MTOR mechanistic target of rapamycin kinase
2671 GFER growth factor, augmenter of liver regeneration
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 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
24577 Myc MYC proto-oncogene, bHLH transcription factor
25353 Spp1 secreted phosphoprotein 1
25548 Slc34a1 solute carrier family 34 member 1
29216 Lrp2 LDL receptor related protein 2
60350 Cd14 CD14 molecule
60582 Il1rn interleukin 1 receptor antagonist
81687 Mmp9 matrix metallopeptidase 9
83840 Rps6kb1 ribosomal protein S6 kinase B1
89805 Angpt2 angiopoietin 2
117512 C9 complement C9
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

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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: December 9, 2024