Cystinuria

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Cystinuria

SLC7A9
SLC3A1

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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.

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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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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