AGXT gene related symptoms and diseases
All the information presented here about the AGXT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AGXT gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Enuresis | Very Common - Between 80% and 100% cases |
| Cutis marmorata | Very Common - Between 80% and 100% cases |
| Pathologic fracture | Very Common - Between 80% and 100% cases |
| Optic neuropathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AGXT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Heart block
- Gangrene
- Acrocyanosis
- Raynaud phenomenon
- Peripheral arterial stenosis
- Dysuria
- Calcinosis
- Pyelonephritis
And 41 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AGXT gene
Here you will find a list of rare diseases related to the AGXT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY HYPEROXALURIA TYPE 1
Alternate names
PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria, peroxisomal alanine:glyoxylate aminotransferase deficiency, peroxisomal alanine-glyoxylate aminotransferase deficiency, hepatic agt deficiency, alanine-glyoxylate aminotransferase deficiency, serine:pyruvate aminotransferase deficiency, oxalo
Description
Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
Most common symptoms of PRIMARY HYPEROXALURIA TYPE 1
- Failure to thrive
- Pain
- Anemia
- Peripheral neuropathy
- Fever
More info about PRIMARY HYPEROXALURIA TYPE 1
Search interest in AGXT
Potential gene panels for AGXT gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
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.
Primary Hyperoxaluria Type 1 Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the AGXT gene.
More info about this panel United States.
Peroxisomal Disorders Comprehensive NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Peroxisomal Disorders Comprehensive NGS Panel that also includes the following genes: SCP2 ACOX1 CAT PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4
More info about this panel United States.
AGXT 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 AGXT gene.
More info about this panel United States.
AGXT 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 AGXT 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.
Peroxisomal Disorders Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS
More info about this panel Czech Republic.
Peroxisomal disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4 ABCD1
More info about this panel United Kingdom.
AGXT. Detection of the mutations p.Gly170Arg, p.Ile244Thr, p.Phe152Ile and c.33dupC (p.Lys12GlnfsX156) by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AGXT gene.
More info about this panel Spain.
AGXT. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AGXT gene.
More info about this panel Spain.
Alanine-glyoxylate aminotransferase deficiency (primary hyperoxaluria type 1) (deletion/duplication analysis on AGXT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AGXT gene.
More info about this panel Portugal.
Primary hyperoxaluria type I (sequence analysis of AGXT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AGXT gene.
More info about this panel Portugal.
Hyperoxaluria Type 1 (frequent mutations on AGXT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AGXT gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Hyperoxaluria type I (AGXT) Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the AGXT gene.
More info about this panel India.
Hyperoxaluria, Primary, Type 1 Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the AGXT gene.
More info about this panel Belgium.
Primary hyperoxaluria, type I Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the AGXT 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 1 Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the AGXT gene.
More info about this panel Netherlands.
Primary Hyperoxaluria Type 1 via AGXT Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the AGXT 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 1 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the AGXT 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.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Hyperoxaluria primary type I Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AGXT gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
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.
Single gene testing AGXT Panel
Germany.
By CeGaT GmbH
This panel specifically test the AGXT gene.
More info about this panel Germany.
Hyperoxaluria, primary I Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the AGXT gene.
More info about this panel Austria.
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.
Hyperoxaluria, primary I Panel
Slovakia.
By MedGene
This panel specifically test the AGXT gene.
More info about this panel Slovakia.
Primary hyperoxaluria type 1: mutations screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AGXT gene.
More info about this panel Spain.
Primary hyperoxaluria type 1: AGXT gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AGXT 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 I (AGXT) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the AGXT 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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
AGXT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AGXT 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.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Peroxisomal Disorders Panel Panel
Finland.
By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4
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 1 Panel
Spain.
By Bioarray
This panel specifically test the AGXT gene.
More info about this panel Spain.
PRIMARY HYPEROXALURIA TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the AGXT 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 1 , Sequencing AGXT Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the AGXT gene.
More info about this panel Spain.
Primary Hyperoxaluria Type 1 , Mutations (c.590 G>A, c.508 G>A, c.454 T>A, c.731 T>C,c.33delC, c.33dupC) AGXT Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the AGXT gene.
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
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 1 Panel
United Kingdom.
By North West London Pathology Imperial College Healthcare NHS Trust
This panel specifically test the AGXT 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 1: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the AGXT gene.
More info about this panel Canada.
Primary Hyperoxaluria Type 1: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the AGXT gene.
More info about this panel Canada.
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