primary hyperoxaluria

Summary
Definition
A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
Super Class
carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:2977
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
189 AGXT alanine--glyoxylate aminotransferase
353 APRT adenine phosphoribosyltransferase
6783 SULT1E1 sulfotransferase family 1E member 1
7358 UGDH UDP-glucose 6-dehydrogenase
9380 GRHPR glyoxylate and hydroxypyruvate reductase
9563 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
51084 CRYL1 crystallin lambda 1
51179 HAO2 hydroxyacid oxidase 2
54363 HAO1 hydroxyacid oxidase 1

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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