primary hyperoxaluria type 2
Information
- Disease name
- primary hyperoxaluria type 2
- Disease ID
- DOID:0111671
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/books/NBK2692/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10484776]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT06465472 | Not yet recruiting | Phase 3 | Evaluation of the Efficacy and Safety of Stiripentol in Patients 6 Years and Older With Primary Hyperoxaluria Type 1, 2 or 3 | August 2024 | August 2030 |
| NCT04580420 | Recruiting | Phase 2 | Safety & Efficacy of DCR-PHXC in Patients With PH1/2 and ESRD | April 15, 2021 | May 2025 |
| NCT05001269 | Recruiting | Phase 2 | Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function | February 22, 2022 | December 2024 |
- Disase is a (Disease Ontology)
- DOID:2977
- Cross Reference ID (Disease Ontology)
- GARD:2836
- Cross Reference ID (Disease Ontology)
- MESH:C536415
- Cross Reference ID (Disease Ontology)
- MIM:260000
- Cross Reference ID (Disease Ontology)
- NCI:C123213
- Cross Reference ID (Disease Ontology)
- ORDO:93599
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:40951006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268165
- Exact Synonym (Disease Ontology)
- D-glycerate dehydrogenase deficiency
- Exact Synonym (Disease Ontology)
- glyoxylate reductase/hydroxypyruvate reductase deficiency
- Exact Synonym (Disease Ontology)
- HP2
- Exact Synonym (Disease Ontology)
- L-glyceric aciduria
- Exact Synonym (Disease Ontology)
- oxalosis II
- OrphaNumber from OrphaNet (Orphanet)
- 93599