polycystic kidney disease 7

Summary
Definition
A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13.
Super Class
autosomal dominant polycystic kidney disease
Disease Ontology
DOID:0060952
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29880 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase

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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 8, 2025