Hypouricemia, Renal, 2; Rhuc2

Description

Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by Matsuo et al., 2008).For additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hypouricemia, Renal, 2; Rhuc2

  • Renal insufficiency
  • Nephrolithiasis
  • Acute kidney injury
  • Hyperechogenic kidneys
  • Hypouricemia

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hypouricemia, Renal, 2; Rhuc2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal Hypouricemia Type 2.

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

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

By CGC Genetics (Portugal).

SLC2A9
Specificity
100 %
Genes
100 %
Renal Hypouricemia 2.

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

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

By PreventionGenetics PreventionGenetics (United States).

SLC2A9
Specificity
100 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT , (...)

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

By Connective Tissue Gene Tests (United States).

SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT , (...)

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

By Connective Tissue Gene Tests (United States).

SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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