SLC6A18 gene related symptoms and diseases

All the information presented here about the SLC6A18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC6A18 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Nephrolithiasis Very Common - Between 80% and 100% cases
Prolinuria Very Common - Between 80% and 100% cases
Hydroxyprolinuria Very Common - Between 80% and 100% cases
Hyperglycinuria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC6A18 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cystinuria
  • Progressive encephalopathy
  • Hypophosphatemia
  • Aciduria
  • Global developmental delay
  • Severe global developmental delay
  • Abnormality of the eye
  • Encephalopathy

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC6A18 gene

Here you will find a list of rare diseases related to the SLC6A18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.



Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Most common symptoms of IMINOGLYCINURIA

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness



Potential gene panels for SLC6A18 gene

SLC6A18 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC6A18 gene.

More info about this panel
United States.

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