Cystinuria
Description
Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).
Clinical Features
Top most frequent phenotypes and symptoms related to Cystinuria
- Intellectual disability
- Pain
- Renal insufficiency
- Abnormality of the nervous system
- Nausea
- Nephropathy
- Hematuria
- Aciduria
- Recurrent urinary tract infections
- Nephrolithiasis
And another 13 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available CYSTINURIA have a estimated prevalence of 14 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Cystinuria Is also known as cystinuria, type non-i, formerly, cystinuria, type i, formerly, cystinuria, type iii, formerly, csnu1, formerly, csnu, csnu3, formerly, cystinuria, type ii, formerly.
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.Cystinuria Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
SLC7A9. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
SLC7A9
Specificity
100 %
Genes
50 % |
SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
SLC3A1, SLC7A9
Specificity
100 %
Genes
100 % |
Cystinuria (sequence analysis of SLC7A9 gene).
By CGC Genetics (Portugal).
SLC7A9
Specificity
100 %
Genes
50 % |
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).
By CGC Genetics (Portugal).
SLC3A1, SLC7A9, PREPL
Specificity
67 %
Genes
100 % |
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).
By CGC Genetics (Portugal).
SLC3A1, SLC7A9, PREPL
Specificity
67 %
Genes
100 % |
Cystinuria.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).
SLC3A1, SLC7A9
Specificity
100 %
Genes
100 % |
Cystinuria Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC3A1, SLC7A9
Specificity
100 %
Genes
100 % |
Cystinuria via SLC7A9 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC7A9
Specificity
100 %
Genes
50 % |
You can get up to 39 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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