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 1 - 10 of 46 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
378 ARF4 ADP ribosylation factor 4
811 CALR calreticulin
929 CD14 CD14 molecule
1312 COMT catechol-O-methyltransferase
1376 CPT2 carnitine palmitoyltransferase 2
1579 CYP4A11 cytochrome P450 family 4 subfamily A member 11
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1717 DHCR7 7-dehydrocholesterol reductase
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