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.

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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

SOURCES: MESH OMIM ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 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

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

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 1 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the AGXT 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

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

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

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

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

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

Hyperoxaluria Panel Panel

Germany.

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

More info about this panel

Single gene testing AGXT Panel

Germany.

By CeGaT GmbH

This panel specifically test the AGXT gene.

More info about this panel

Hyperoxaluria, primary I Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the AGXT gene.

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

Hyperoxaluria, primary I Panel

Slovakia.

By MedGene

This panel specifically test the AGXT gene.

More info about this panel

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

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

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 I (AGXT) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the AGXT 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

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

AGXT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AGXT 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

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

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

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 1 Panel

Spain.

By Bioarray

This panel specifically test the AGXT gene.

More info about this panel

PRIMARY HYPEROXALURIA TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AGXT 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 1 , Sequencing AGXT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AGXT gene.

More info about this panel

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

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

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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 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

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 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

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


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