Nephrolithiasis, Calcium Oxalate; Caon

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%.

Clinical Features

Phenotypes and symptoms related to Nephrolithiasis, Calcium Oxalate; Caon

  • Renal insufficiency
  • Nephrolithiasis
  • Hypercalciuria
  • Hyperparathyroidism
  • Acute kidney injury
  • Primary hyperparathyroidism
  • Ureteropelvic junction obstruction
  • Cystinuria
  • Calcium oxalate nephrolithiasis
  • Hyperoxaluria

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Nephrolithiasis, Calcium Oxalate; Caon Is also known as kidney stones, urolithiasis, calcium oxalate.

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.


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Nephrolithiasis, Calcium Oxalate; Caon Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrolithiasis via SLC26A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC26A1
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
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
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
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
Specificity
4 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
SLC26A1.

By Fulgent Genetics Fulgent Genetics (United States).

SLC26A1
Specificity
100 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics (Finland).

SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, GPHN, SLC22A12, MOCOS, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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