Hypouricemia, Renal, 1; Rhuc1

Description

Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008). Genetic Heterogeneity of Renal HypouricemiaSee also RHUC2 (OMIM ), which is caused by mutation in the SLC2A9 gene (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hypouricemia, Renal, 1; Rhuc1

  • Pain
  • Renal insufficiency
  • Vomiting
  • Abdominal pain
  • Acute kidney injury
  • Hypouricemia
  • Oliguria
  • Uric acid nephrolithiasis
  • Increased urinary urate

Incidence and onset information

Not enough data available about incidence and published cases.


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Hypouricemia, Renal, 1; Rhuc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
50 %
Renal Hypouricemia Type 1.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

SLC22A12
Specificity
100 %
Genes
50 %
Hypouricemia renal (RHUC1, sequence analysis of SLC22A12 gene).

By CGC Genetics in Portugal.

SLC22A12
Specificity
100 %
Genes
50 %
Familial renal hypouricemia.

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

SLC22A12
Specificity
100 %
Genes
50 %
Hypouricemia, renal type 1.

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

SLC22A12
Specificity
100 %
Genes
50 %
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
7 %
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
7 %
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
7 %
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
7 %
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 %
Hypouricemia, renal type 1.

By Centogene AG - the Rare Disease Company in Germany.

SLC22A12
Specificity
100 %
Genes
50 %
Hypouricemia, renal type 1.

By Centogene AG - the Rare Disease Company in Germany.

SLC22A12
Specificity
100 %
Genes
50 %
Hypouricemia, renal: SLC22A12 gene sequence analysis.

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

SLC22A12
Specificity
100 %
Genes
50 %
SLC22A12.

By Fulgent Genetics Fulgent Genetics in United States.

SLC22A12
Specificity
100 %
Genes
50 %
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 %
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
6 %
Genes
100 %
Renal Hypouricemia Type 1 , Sequencing SLC22A12 Gene.

By Reference Laboratory Genetics in Spain.

SLC22A12
Specificity
100 %
Genes
50 %
Renal Hypouricemia Type 2.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

SLC2A9
Specificity
100 %
Genes
50 %
Hypouricemia renal (sequence analysis of SLC2A9 gene).

By CGC Genetics in Portugal.

SLC2A9
Specificity
100 %
Genes
50 %
Renal Hypouricemia 2.

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

SLC2A9
Specificity
100 %
Genes
50 %
Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC2A9
Specificity
100 %
Genes
50 %
Hypouricemia, renal type 2.

By Centogene AG - the Rare Disease Company in Germany.

SLC2A9
Specificity
100 %
Genes
50 %
Hypouricemia, renal type 2.

By Centogene AG - the Rare Disease Company in Germany.

SLC2A9
Specificity
100 %
Genes
50 %
SLC2A9.

By Fulgent Genetics Fulgent Genetics in United States.

SLC2A9
Specificity
100 %
Genes
50 %
Renal Hypouricemia Type 2 , Sequencing SLC2A9 Gene.

By Reference Laboratory Genetics in Spain.

SLC2A9
Specificity
100 %
Genes
50 %

Alternate names

Hypouricemia, Renal, 1; Rhuc1 Is also known as dalmatian hypouricemia, renal hypouricemia;.



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