Hypouricemia, Renal, 2; Rhuc2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Hypouricemia, Renal, 2; Rhuc2

SLC2A9

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Clinical Features

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

Renal insufficiency
Nephrolithiasis
Acute kidney injury
Hyperechogenic kidneys
Hypouricemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

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 Panel complete gene list SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT, GRHPR, HNF4A, HPRT1, KCNJ1, APRT, OCRL, ATP6V1B1, ATP6V0A4 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 Panel complete gene list SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT, GNA11, GRHPR, HNF4A, HPRT1, AP2S1, KCNJ1, APRT, OCRL, ATP6V1B1, ATP6V0A4 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 Panel complete gene list SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT, GNA11, GRHPR, HNF4A, HPRT1, AP2S1, KCNJ1, APRT, OCRL, ATP6V1B1, ATP6V0A4 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 Panel complete gene list SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1, AGXT, GNA11, GRHPR, HNF4A, HPRT1, AP2S1, KCNJ1, APRT, OCRL, ATP6V1B1, ATP6V0A4 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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