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 21 - 27 of 27 in total
Gene ID Gene Symbol Description Source
68794 Flnc filamin C, gamma
72508 Rps6kb1 ribosomal protein S6 kinase, polypeptide 1
83995 Mmp1a matrix metallopeptidase 1a (interstitial collagenase)
227289 Gpbar1 G protein-coupled bile acid receptor 1
241226 Itga8 integrin alpha 8
244646 Pkd1l3 polycystic kidney disease 1 like 3
329064 Pkd2l1 polycystic kidney disease 2-like 1
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

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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