SLC22A12 gene related symptoms and diseases
All the information presented here about the SLC22A12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC22A12 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Vomiting | Very Common - Between 80% and 100% cases |
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Abdominal pain | Very Common - Between 80% and 100% cases |
| Nephrolithiasis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC22A12 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Acute kidney injury
- Oliguria
- Hypouricemia
- Acute tubular necrosis
- Uric acid nephrolithiasis
- Increased urinary urate
Rare diseases associated to SLC22A12 gene
Here you will find a list of rare diseases related to the SLC22A12. 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
Search interest in SLC22A12
Potential gene panels for SLC22A12 gene
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
Renal Hypouricemia Type 1 Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the SLC22A12 gene.
More info about this panel United States.
Hypouricemia renal (RHUC1, sequence analysis of SLC22A12 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC22A12 gene.
More info about this panel Portugal.
Familial renal hypouricemia Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC22A12 gene.
More info about this panel Germany.
Hypouricemia, renal type 1 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC22A12 gene.
More info about this panel Germany.
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 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC22A12 gene.
More info about this panel Germany.
Hypouricemia, renal type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC22A12 gene.
More info about this panel Germany.
Hypouricemia, renal: SLC22A12 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC22A12 gene.
More info about this panel Spain.
SLC22A12 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC22A12 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.
HYPOURICEMIA RENAL Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC22A12 gene.
More info about this panel Spain.
Renal Hypouricemia Type 1 , Sequencing SLC22A12 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC22A12 gene.
More info about this panel Spain.
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