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
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
Search interest in SLC2A9
Potential gene panels for SLC2A9 gene
Renal Hypouricemia Type 2 Panel
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the SLC2A9 gene.
More info about this panelHypouricemia renal (sequence analysis of SLC2A9 gene) Panel
By CGC Genetics
This panel specifically test the SLC2A9 gene.
More info about this panelRenal Hypouricemia 2 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC2A9 gene.
More info about this panelRenal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC2A9 gene.
More info about this panelNephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
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 panelNephrolithiasis and related disorders NGS panel Panel
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 panelNephrolithiasis and related disorders Comprehensive panel Panel
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 panelNephrolithiasis and related disorders Deletion / Duplication panel Panel
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 panelHereditary kidney disorders - different panels Panel
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 panelHypouricemia, renal type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC2A9 gene.
More info about this panelHypouricemia, renal type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC2A9 gene.
More info about this panelSLC2A9 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC2A9 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelNephrolithiasis Panel Panel
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 panelRenal Hypouricemia Type 2 , Sequencing SLC2A9 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC2A9 gene.
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