GRHPR gene related symptoms and diseases
All the information presented here about the GRHPR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GRHPR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Abdominal pain | Very Common - Between 80% and 100% cases |
| Stage 5 chronic kidney disease | Very Common - Between 80% and 100% cases |
| Nephropathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GRHPR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hematuria
- Aciduria
- Recurrent urinary tract infections
- Nephrolithiasis
- Nephrocalcinosis
- Aminoaciduria
- Dysuria
- Pyelonephritis
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GRHPR gene
Here you will find a list of rare diseases related to the GRHPR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY HYPEROXALURIA TYPE 2
Alternate names
PRIMARY HYPEROXALURIA TYPE 2 Is also known as l-glyceric aciduria, glyoxylate reductase/hydroxypyruvate reductase deficiency, oxalosis ii, d-glycerate dehydrogenase deficiency, glyceric aciduria
Description
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.
Most common symptoms of PRIMARY HYPEROXALURIA TYPE 2
- Pain
- Renal insufficiency
- Abdominal pain
- Stage 5 chronic kidney disease
- Nephropathy
More info about PRIMARY HYPEROXALURIA TYPE 2
Search interest in GRHPR
Potential gene panels for GRHPR gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GRHPR Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GRHPR gene.
More info about this panel United States.
GRHPR Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GRHPR gene.
More info about this panel United States.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
GRHPR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GRHPR gene.
More info about this panel Spain.
Primary hyperoxaluria type 2 (sequence analysis of GRHPR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GRHPR gene.
More info about this panel Portugal.
Hyperoxaluria type 2 Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the GRHPR gene.
More info about this panel Belgium.
Primary hyperoxaluria, type II Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GRHPR gene.
More info about this panel Germany.
Hyperoxaluria (Type1,2 and 3) Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Hyperoxaluria (Type1,2 and 3) that also includes the following genes: HOGA1 AGXT GRHPR
More info about this panel Germany.
Primary Hyperoxaluria type 2 via GRHPR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GRHPR gene.
More info about this panel United States.
Primary Hyperoxaluria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Primary Hyperoxaluria Sequencing Panel with CNV Detection that also includes the following genes: HOGA1 AGXT GRHPR
More info about this panel United States.
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Hyperoxaluria, Primary, Type 2 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the GRHPR gene.
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Hyperoxaluria primary type II Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GRHPR gene.
More info about this panel Germany.
Hyperoxaluria Panel Panel
Germany.
By CeGaT GmbH Hyperoxaluria Panel that also includes the following genes: HOGA1 AGXT GRHPR
More info about this panel Germany.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Primary hyperoxaluria type 2: GRHPR gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GRHPR gene.
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Primary Hyperoxaluria Type 2 (GRHPR) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the GRHPR gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
GRHPR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GRHPR gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Primary Hyperoxaluria Panel Panel
Finland.
By Blueprint Genetics Primary Hyperoxaluria Panel that also includes the following genes: HOGA1 AGXT GRHPR
More info about this panel Finland.
Nephrolithiasis Panel Panel
Finland.
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel Finland.
Hyperoxaluria, primary, type II Panel
Spain.
By Bioarray
This panel specifically test the GRHPR gene.
More info about this panel Spain.
PRIMARY HYPEROXALURIA TYPE 2 (D-GLYCERATE DEHYDROGENASE DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GRHPR gene.
More info about this panel Spain.
PRIMARY HYPEROXALURIA SANGER PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PRIMARY HYPEROXALURIA SANGER PANEL that also includes the following genes: HOGA1 AGXT GRHPR
More info about this panel Spain.
Primary Hyperoxaluria Type 2, Sequencing GRHPR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GRHPR gene.
More info about this panel Spain.
Primary Hyperoxaluria , Panel Massive Sequencing (NGS) AGXT, GRHPR, HOGA1 Genes Panel
Spain.
By Reference Laboratory Genetics Primary Hyperoxaluria , Panel Massive Sequencing (NGS) AGXT, GRHPR, HOGA1 Genes that also includes the following genes: HOGA1 AGXT GRHPR
More info about this panel Spain.
Primary Hyperoxaluria Type 2 Panel
United Kingdom.
By North West London Pathology Imperial College Healthcare NHS Trust
This panel specifically test the GRHPR gene.
More info about this panel United Kingdom.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
Primary Hyperoxaluria Type 2: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GRHPR gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCPH1-AS1 FANCD2