SLC3A1 gene related symptoms and diseases

All the information presented here about the SLC3A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM.

Top 5 symptoms associated to SLC3A1 gene



Symptoms // Phenotype % Cases
Nephrolithiasis 100%
Cystinuria 100%
Muscular hypotonia 67%
Global developmental delay 67%
Failure to thrive 67%

Other less frequent symptoms

Patients with SLC3A1 gene alterations may also develop some of the following symptoms and phenotypes:

66% Depressed nasal bridge 66% Frontal bossing 66% Growth delay 66% Autosomal recessive inheritance 66% Lactic acidosis 66% Decreased fetal movement 66% Long eyelashes 66% Nasal speech

And 36 more phenotypes.
View the complete list

Rare diseases associated to SLC3A1 gene

Here you can will find a list of rare diseases related to the SLC3A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


2P21 MICRODELETION SYNDROME

Most common symptoms of 2P21 MICRODELETION SYNDROME

  • Mitochondrial respiratory chain defects
  • Cystinuria
  • Hypocalcemia
  • Nasal speech
  • Long eyelashes


More info about 2P21 MICRODELETION SYNDROME

SOURCES: ORPHANET

HYPOTONIA-CYSTINURIA SYNDROME

Alternate names

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease, homozygous 2p16 deletion syndrome, formerly;

Most common symptoms of HYPOTONIA-CYSTINURIA SYNDROME

  • Cystinuria
  • Contiguous gene syndrome
  • Central hypotonia
  • Neonatal hypoglycemia
  • Polyphagia


More info about HYPOTONIA-CYSTINURIA SYNDROME

SOURCES: ORPHANET OMIM

CYSTINURIA

Alternate names

CYSTINURIA Is also known as csnu, cystinuria, type i, formerly;csnu1, formerly, cystinuria, type ii, formerly, cystinuria, type iii, formerly;csnu3, formerly, cystinuria, type non-i, formerly;

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).

Most common symptoms of CYSTINURIA

  • Argininuria
  • Ornithinuria
  • Abnormality of amino acid metabolism
  • Cystinuria
  • Hyperlysinuria


More info about CYSTINURIA

SOURCES: OMIM ORPHANET

Potential gene panels for SLC3A1 gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories Baylor College of Medicine in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BEST1 OPN1MW HNF1A HBB MUTYH NEUROD1 SPATA7 RAX BRCA1 FBLN5 And 627 more,

More info about this panel

Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication) Panel

By ARUP Laboratories, Molecular Genetics and Genomics in United States. Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication) that also includes the following genes: MT-ND1 TMPO SUOX COX4I2 NDUFAF5 TRMU RARS2 PDHA1 NDUFAF2 ISCU And 147 more,

More info about this panel

SLC3A1. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the SLC3A1 gene.

More info about this panel

SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS that also includes the following genes: SLC7A9 SLC3A1

More info about this panel

Cystinuria (sequence analysis of SLC3A1 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the SLC3A1 gene.

More info about this panel

Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) Panel

By CGC Genetics in Portugal. Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) that also includes the following genes: SLC3A1 SLC7A9 PREPL

More info about this panel

Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) Panel

By CGC Genetics in Portugal. Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) that also includes the following genes: SLC3A1 SLC7A9 PREPL

More info about this panel

Cystinuria Panel

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. Cystinuria that also includes the following genes: SLC3A1 SLC7A9

More info about this panel

Cystinuria Sequencing Panel Panel

By PreventionGenetics PreventionGenetics in United States. Cystinuria Sequencing Panel that also includes the following genes: SLC7A9 SLC3A1

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Nephrolithiasis and Nephrocalcinosis Sequencing Panel Panel

By PreventionGenetics PreventionGenetics in United States. Nephrolithiasis and Nephrocalcinosis Sequencing Panel that also includes the following genes: HNF4A CLCN5 CASR OCRL APRT FAM20A HOGA1 SLC34A1 ATP6V0A4 SLC12A1 And 20 more,

More info about this panel

Cystinuria via the SLC3A1 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the SLC3A1 gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Hereditary kidney disorders - different panels that also includes the following genes: CEP120 ADAMTS13 AHI1 APRT ALMS1 AGTR2 AGT AGTR1 ATP6V0A4 ALG8 And 401 more,

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SLC3A1 associated Cystinuria Panel

By Institute of Human Genetics Cologne University in Germany.

This panel specifically test the SLC3A1 gene.

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Nephrology Endocrinology and Electrolytes - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ABCC8 ALPL AGT APPL1 AGTR1 CASR BMP7 CLCN5 OFD1 CEL And 107 more,

More info about this panel

Cystinuria Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the SLC3A1 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: MTOR JRK CAV3 NXF5 AMPD2 SCN3A ZCCHC12 ARSI USP8 TTN And 1195 more,

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CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: ADA SOX6 INS KRAS HNF1A DNA2 SLC2A1 GNAS F5 IL2 And 504 more,

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CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: ADA SOX6 INS KRAS HNF1A DNA2 SLC2A1 GNAS F5 IL2 And 504 more,

More info about this panel

Single gene testing SLC3A1 Panel

By CeGaT GmbH in Germany.

This panel specifically test the SLC3A1 gene.

More info about this panel

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome Panel

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States. nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome that also includes the following genes: MUTYH DHTKD1 ABCB6 DISC1 AIFM1 PNPT1 CLN5 AKT2 COMT SURF1 And 410 more,

More info about this panel

Cystinuria Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the SLC3A1 gene.

More info about this panel

qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL in Spain. qCarrier Plus that also includes the following genes: ADA ABCD1 BRWD3 SLC22A5 DUOXA2 JAK3 FKRP CLN3 AR COL4A4 And 290 more,

More info about this panel

Cystinuria Panel

By MedGene in Slovakia.

This panel specifically test the SLC3A1 gene.

More info about this panel

Invitae Cystinuria Panel Panel

By Invitae in United States. Invitae Cystinuria Panel that also includes the following genes: SLC3A1 SLC7A9 PREPL

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Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: CACNA2D1 KCNE2 RYR1 NDUFAF5 HIGD2A ECI1 FTH1 ATP10D PPARGC1A CYP11B1 And 494 more,

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SLC3A1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the SLC3A1 gene.

More info about this panel

KidneySeq - 264 Genes Panel

By Iowa Institute of Human Genetics University of Iowa in United States. KidneySeq - 264 Genes that also includes the following genes: AHI1 WDR35 WDR73 TSC1 TSC2 UPK3A TRAP1 VHL TTC8 VPS33B And 252 more,

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Cystinuria Panel Panel

By Blueprint Genetics in Finland. Cystinuria Panel that also includes the following genes: SLC7A9 SLC3A1

More info about this panel

Comprehensive Metabolism Panel Panel

By Blueprint Genetics in Finland. Comprehensive Metabolism Panel that also includes the following genes: ABCC8 AGPAT2 HSD17B10 HMGCS2 OXCT1 MTR PTS ACAD9 ACADL ADAMTSL2 And 344 more,

More info about this panel

Cystinuria Panel

By Bioarray in Spain.

This panel specifically test the SLC3A1 gene.

More info about this panel

CarrierMap Panel

By Recombine in United States. CarrierMap that also includes the following genes: ADA GJB2 PUS1 ATP7A PTS ADAMTS2 ALPL AR ACOX1 RARS2 And 291 more,

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Rapid microarray (CGH and SNP) Panel

By Allele Diagnostics Allele Diagnostics in United States. Rapid microarray (CGH and SNP) that also includes the following genes: PAFAH1B1 NIPBL PTEN NSD1 DOCK8 PAX6 APC SLC3A1 ABCC8 USH1C And 163 more,

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Cystinuria Panel

By LifeLabs Genetics in Canada.

This panel specifically test the SLC3A1 gene.

More info about this panel

Cystinuria Type A , Sequencing SLC3A1 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the SLC3A1 gene.

More info about this panel

Other genes that you may find interesting

NDUFV1 IKBKB COL17A1