SLC2A9 gene related symptoms and diseases

All the information presented here about the SLC2A9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC2A9 gene

Symptoms // Phenotype % Cases
Renal insufficiency Very Common - Between 80% and 100% cases
Nephrolithiasis Very Common - Between 80% and 100% cases
Acute kidney injury Very Common - Between 80% and 100% cases
Hypouricemia Very Common - Between 80% and 100% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC2A9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Vomiting
  • Abdominal pain
  • Oliguria
  • Acute tubular necrosis
  • Uric acid nephrolithiasis
  • Increased urinary urate
  • Hyperechogenic kidneys

Rare diseases associated to SLC2A9 gene

Here you will find a list of rare diseases related to the SLC2A9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY RENAL HYPOURICEMIA

Alternate names

HEREDITARY RENAL HYPOURICEMIA Is also known as dalmatian hypouricemia, renal hypouricemia

Description

Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).

Most common symptoms of HEREDITARY RENAL HYPOURICEMIA

  • Pain
  • Vomiting
  • Renal insufficiency
  • Abdominal pain
  • Nephrolithiasis


More info about HEREDITARY RENAL HYPOURICEMIA

SOURCES: ORPHANET OMIM

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 ).

Most common symptoms of HYPOURICEMIA, RENAL, 2; RHUC2

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


More info about HYPOURICEMIA, RENAL, 2; RHUC2

SOURCES: MESH OMIM


Potential gene panels for SLC2A9 gene

Renal Hypouricemia Type 2 Panel

United States.

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

This panel specifically test the SLC2A9 gene.

More info about this panel
United States.

Hypouricemia renal (sequence analysis of SLC2A9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC2A9 gene.

More info about this panel
Portugal.

Renal Hypouricemia 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the SLC2A9 gene.

More info about this panel
Germany.

Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SLC2A9 gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

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
United States.

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
Germany.

Hypouricemia, renal type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC2A9 gene.

More info about this panel
Germany.

Hypouricemia, renal type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC2A9 gene.

More info about this panel
Germany.

SLC2A9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC2A9 gene.

More info about this panel
United States.

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
United States.

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
Finland.

Renal Hypouricemia Type 2 , Sequencing SLC2A9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC2A9 gene.

More info about this panel
Spain.

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