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.

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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

SOURCES: ORPHANET OMIM MESH


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hyperoxaluria Panel Panel

Germany.

By CeGaT GmbH Hyperoxaluria Panel that also includes the following genes: HOGA1 AGXT GRHPR

More info about this panel

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

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

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

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

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

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

GRHPR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GRHPR gene.

More info about this panel

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

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

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

Hyperoxaluria, primary, type II Panel

Spain.

By Bioarray

This panel specifically test the GRHPR gene.

More info about this panel

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

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

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

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

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

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

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


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