SLC26A1 gene related symptoms and diseases

All the information presented here about the SLC26A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC26A1 gene

Symptoms // Phenotype % Cases
Renal insufficiency Very Common - Between 80% and 100% cases
Nephrolithiasis Very Common - Between 80% and 100% cases
Hypercalciuria Very Common - Between 80% and 100% cases
Hyperparathyroidism Very Common - Between 80% and 100% cases
Acute kidney injury Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC26A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Primary hyperparathyroidism
  • Ureteropelvic junction obstruction
  • Cystinuria
  • Calcium oxalate nephrolithiasis
  • Hyperoxaluria

Rare diseases associated to SLC26A1 gene

Here you will find a list of rare diseases related to the SLC26A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEPHROLITHIASIS, CALCIUM OXALATE; CAON

Alternate names

NEPHROLITHIASIS, CALCIUM OXALATE; CAON Is also known as kidney stones, urolithiasis, calcium oxalate

Description

Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (OMIM ) and primary hyperoxaluria (see {259900}) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts.Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.

Most common symptoms of NEPHROLITHIASIS, CALCIUM OXALATE; CAON

  • Renal insufficiency
  • Nephrolithiasis
  • Hypercalciuria
  • Hyperparathyroidism
  • Acute kidney injury


More info about NEPHROLITHIASIS, CALCIUM OXALATE; CAON

SOURCES: OMIM


Potential gene panels for SLC26A1 gene

Nephrolithiasis via SLC26A1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SLC26A1 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.

SLC26A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC26A1 gene.

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.

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