polycystic kidney disease 3

Summary
Synonym
  • Apkd3
  • Pkd3
  • Polycystic Kidney Disease, Adult, Type III
Definition
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.
Super Class
autosomal dominant polycystic kidney disease
External Links
Disease Ontology
DOID:0110860
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
47 ACLY ATP citrate lyase
2194 FASN fatty acid synthase
5310 PKD1 polycystin 1, transient receptor potential channel interacting
23193 GANAB glucosidase II alpha subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
14376 Ganab alpha glucosidase 2 alpha neutral subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
852530 ROT2 glucan 1,3-alpha-glucosidase ROT2
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 32 in total
HPO ID HPO Term
HP:0012330 Pyelonephritis
HP:0012591 Abnormal urinary electrolyte concentration
HP:0012592 Albuminuria
HP:0012622 Chronic kidney disease
HP:0100702 Arachnoid cyst
HP:0003621 Juvenile onset
HP:0000113 Polycystic kidney dysplasia
HP:0011462 Young adult onset
HP:0003584 Late onset
HP:0000006 Autosomal dominant inheritance
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024