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 31 - 40 of 46 in total
Gene ID Gene Symbol Description Source
6646 SOAT1 sterol O-acyltransferase 1
7369 UMOD uromodulin
8482 SEMA7A semaphorin 7A (JohnMiltonHagen blood group)
9126 SMC3 structural maintenance of chromosomes 3
9365 KL klotho
23193 GANAB glucosidase II alpha subunit
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
56623 INPP5E inositol polyphosphate-5-phosphatase E
64132 XYLT2 xylosyltransferase 2
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