Details of Disease | DrugMAP

General Information of Disease (ID: DISGZT3W)

Disease Name	Primary hyperoxaluria type 2
Synonyms	Oxalosis 2; HP2; hyperoxaluria, primary, type II; glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency; hyperoxaluria, primary, type 2; primary hyperoxaluria caused by mutation in GRHPR; GRHPR primary hyperoxaluria; primary hyperoxaluria type 2; L-glyceric aciduria; primary hyperoxaluria type II; D-glycerate dehydrogenase deficiency
Definition	Primary 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.
Disease Hierarchy	DIS0L16N: Primary hyperoxaluria DISGZT3W: Primary hyperoxaluria type 2
Disease Identifiers	MONDO ID MONDO_0009824 MESH ID C536415 UMLS CUI C0268165 OMIM ID 260000 MedGen ID 120616 Orphanet ID 93599 SNOMED CT ID 40951006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLYCTK	OTVTBNSM	Strong	Genetic Variation	[1]
GRHPR	OTLV63QV	Definitive	Autosomal recessive	[2]
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References

1	d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.Mol Genet Metab. 2017 Jun;121(2):80-82. doi: 10.1016/j.ymgme.2017.04.009. Epub 2017 Apr 20.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.