Hyperoxaluria, Primary, Type Iii; Hp3

Description

Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.

Clinical Features

Phenotypes and symptoms related to Hyperoxaluria, Primary, Type Iii; Hp3

  • Pain
  • Hematuria
  • Nephrocalcinosis
  • Dysuria
  • Abnormal renal physiology
  • Pollakisuria
  • Calcium oxalate nephrolithiasis
  • Hyperoxaluria
  • Abnormality of urine homeostasis

Incidence and onset information

Not enough data available about incidence and published cases.


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Hyperoxaluria, Primary, Type Iii; Hp3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HOGA1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HOGA1
Specificity
100 %
Genes
100 %
HOGA1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HOGA1
Specificity
100 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
HOGA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HOGA1
Specificity
100 %
Genes
100 %
Hyperoxaluria, Primary, Type 3 (sequence analysis of HOGA1 gene).

By CGC Genetics in Portugal.

HOGA1
Specificity
100 %
Genes
100 %
Hyperoxaluria type III.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

HOGA1
Specificity
100 %
Genes
100 %
Hyperoxaluria (Type1,2 and 3).

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

AGXT, GRHPR, HOGA1
Specificity
34 %
Genes
100 %
Primary Hyperoxaluria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGXT, GRHPR, HOGA1
Specificity
34 %
Genes
100 %
Primary Hyperoxaluria Type 3 via HOGA1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HOGA1
Specificity
100 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hyperoxaluria, Primary, Type 3.

By Institute of Human Genetics Cologne University in Germany.

HOGA1
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Hyperoxaluria Panel.

By CeGaT GmbH in Germany.

AGXT, GRHPR, HOGA1
Specificity
34 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Single gene testing HOGA1.

By CeGaT GmbH in Germany.

HOGA1
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Primary hyperoxaluria type 3: HOGA1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HOGA1
Specificity
100 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
HOGA1.

By Fulgent Genetics Fulgent Genetics in United States.

HOGA1
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Primary Hyperoxaluria Panel.

By Blueprint Genetics in Finland.

AGXT, GRHPR, HOGA1
Specificity
34 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Hyperoxaluria, primary, type III.

By Bioarray in Spain.

HOGA1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
PRIMARY HYPEROXALURIA TYPE 3.

By Laboratorio de Genetica Clinica SL in Spain.

HOGA1
Specificity
100 %
Genes
100 %
Primary Hyperoxaluria Type 3, Sequencing HOGA1 Gene.

By Reference Laboratory Genetics in Spain.

HOGA1
Specificity
100 %
Genes
100 %
Primary Hyperoxaluria , Panel Massive Sequencing (NGS) AGXT, GRHPR, HOGA1 Genes.

By Reference Laboratory Genetics in Spain.

AGXT, GRHPR, HOGA1
Specificity
34 %
Genes
100 %
Primary Hyperoxaluria Type 3.

By North West London Pathology Imperial College Healthcare NHS Trust in United Kingdom.

HOGA1
Specificity
100 %
Genes
100 %
Primary Hyperoxaluria Type 3: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HOGA1
Specificity
100 %
Genes
100 %


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