polycystic kidney disease 2

Summary
Synonym
  • Apkd2
  • Pkd2
  • Polycystic Kidney Disease, Adult, Type II
Definition
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
Super Class
autosomal dominant polycystic kidney disease
External Links
Disease Ontology
DOID:0110859
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
23193 GANAB glucosidase II alpha subunit
Related Glycoprotein
Displaying all 3 entries
UniProt ID Protein Name Source
P98161 Polycystin-1
Q13563 Polycystin-2
Q14697 Neutral alpha-glucosidase AB
The Human Phenotype Ontology
Displaying entries 41 - 42 of 42 in total
HPO ID HPO Term
HP:0003829 Typified by incomplete penetrance
HP:0002240 Hepatomegaly
Displaying all 5 entries
Gene ID Gene Symbol Description
23193 GANAB glucosidase II alpha subunit
29880 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase

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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