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
Disease Ontology
DOID:2977
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
189 AGXT alanine--glyoxylate aminotransferase
9380 GRHPR glyoxylate and hydroxypyruvate reductase
112817 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
76238 Grhpr glyoxylate reductase/hydroxypyruvate reductase

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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 9, 2024