primary hyperoxaluria type 2

Term ID

DOID:0111671

Synonyms

• D-glycerate dehydrogenase deficiency
• glyoxylate reductase/hydroxypyruvate reductase deficiency
• HP2
• L-glyceric aciduria
• oxalosis II

Definition

A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. (2)

References

• GARD:2836
• MESH:C536415
• NCI:C123213
• OMIM:260000
• ORDO:93599
• SNOMEDCT_US_2023_03_01:40951006
• UMLS_CUI:C0268165

Ontology

Human Disease   ( DOID:0111671 )