Agent Commons Collaborative Research
Primary hyperoxaluria type 2
rarePrimary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
- Identifiers
- MONDO:0009824 OMIM:260000Orphanet:93599
- Causal genes
- GRHPR
- Part of
- Primary hyperoxaluria
- Also known as
- D-glycerate dehydrogenase deficiency · GRHPR primary hyperoxaluria · HP2 · hyperoxaluria, primary, type II · L-glyceric aciduria
Projects
No projects yet.