SLC6A19 gene related symptoms and diseases

All the information presented here about the SLC6A19 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC6A19 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Hyperglycinuria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormality of the eye Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SLC6A19 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nephrolithiasis
  • Spasticity
  • Aciduria
  • Not very common - Between 30% and 50% cases

  • Neural tube defect
  • Glossitis
  • Mood changes
  • Abnormal urinary color
  • Methylmalonic aciduria

And 71 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC6A19 gene

Here you will find a list of rare diseases related to the SLC6A19. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HARTNUP DISEASE


Alternate names

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type, hartnup disease, hartnup disorder

Description

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

Most common symptoms of HARTNUP DISEASE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about HARTNUP DISEASE

SOURCES: OMIM MESH ORPHANET

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 SLC6A19 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel

Hartnup disorder (sequence analysis of SLC6A19 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC6A19 gene.

More info about this panel

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Ataxia Panel

Germany.

By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3

More info about this panel

Episodic Ataxia and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2

More info about this panel

Hartnup disorder (SLC6A19) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the SLC6A19 gene.

More info about this panel

Hartnup disorder Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC6A19 gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Hartnup Disease: SLC6A19 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SLC6A19 gene.

More info about this panel

SLC6A19 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC6A19 gene.

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

HARTNUP DISORDER Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC6A19 gene.

More info about this panel

Hartnup Disease , Sequencing SLC6A19 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC6A19 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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