SLC6A20 gene related symptoms and diseases

All the information presented here about the SLC6A20 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC6A20 gene

Symptoms // Phenotype % Cases
Hyperglycinuria Very Common - Between 80% and 100% cases
Nephrolithiasis Very Common - Between 80% and 100% cases
Hydroxyprolinuria Uncommon - Between 30% and 50% cases
Calcium oxalate nephrolithiasis Uncommon - Between 30% and 50% cases
Glycosuria Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC6A20 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Syncope
  • Tachycardia
  • Microphthalmia
  • Hypertension
  • Cataract
  • Seizures
  • Hyperornithinemia
  • Prolinuria

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC6A20 gene

Here you will find a list of rare diseases related to the SLC6A20. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IMINOGLYCINURIA


Description

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


More info about IMINOGLYCINURIA

SOURCES: MESH ORPHANET OMIM

HYPERGLYCINURIA


Alternate names

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate nephrolithiasis, glycinuria with or without oxalate urolithiasis, iminoglycinuria type ii

Description

The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

Most common symptoms of HYPERGLYCINURIA

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


More info about HYPERGLYCINURIA

SOURCES: OMIM MESH


Potential gene panels for SLC6A20 gene

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

Single gene testing SLC6A20 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC6A20 gene.

More info about this panel

SLC6A20 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC6A20 gene.

More info about this panel

Hyperglycinuria/Iminoglycinuria , Panel Massive Sequencing (NGS) SLC36A2, SLC6A19, SLC6A20 Genes Panel

Spain.

By Reference Laboratory Genetics Hyperglycinuria/Iminoglycinuria , Panel Massive Sequencing (NGS) SLC36A2, SLC6A19, SLC6A20 Genes that also includes the following genes: SLC36A2 SLC6A19 SLC6A20

More info about this panel


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