SLC3A1 phenotypes and related 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: HGNC,OMIM,ORPHANET,NCBIGENE.

Top 5 symptoms associated to SLC3A1 gene



Symptoms // Phenotype % Cases
Cystinuria 100%
Nephrolithiasis 100%
Growth delay 67%
Autosomal recessive inheritance 67%
Global developmental delay 67%

Other less frequent symptoms

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

66% Muscular hypotonia 66% Failure to thrive 66% Frontal bossing 66% Depressed nasal bridge 66% Decreased fetal movement 66% Lactic acidosis 66% Long eyelashes 66% Nasal speech 33% Hematuria 33% Ornithinuria 33% Fatigue 33% Epicanthus 33% Ptosis 33% Argininuria 33% Hyperuricemia 33% Abnormality of amino acid metabolism 33% Hyperlysinuria 33% Abnormality of the nervous system 33% Variable expressivity 33% Intellectual disability, severe 33% Renal insufficiency 33% Recurrent urinary tract infections 33% Feeding difficulties in infancy 33% Tented upper lip vermilion 33% Macrotia 33% Contiguous gene syndrome 33% Hypocalcemia 33% Intellectual disability, moderate 33% Hypoglycemia 33% Hypogonadism 33% Low-set, posteriorly rotated ears 33% Seizures 33% Central hypotonia 33% Posteriorly rotated ears 33% Neonatal hypoglycemia 33% Polyphagia 33% Mitochondrial respiratory chain defects 33% Hypergonadotropic hypogonadism 33% Growth hormone deficiency 33% Retrognathia 33% Dolichocephaly 33% Autosomal dominant inheritance

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

  • Cystinuria
  • Mitochondrial respiratory chain defects
  • Nasal speech
  • Hypocalcemia
  • 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: OMIM ORPHANET

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
  • Cystinuria
  • Abnormality of amino acid metabolism
  • 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: ADSL HBB NEUROD1 RAX COL2A1 COL3A1 STAT1 ELAC2 RB1 EYA4 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-TT TSFM LARS2 BCKDHA ACAT1 SLC25A15 SDHB COX10 TWNK SCO2 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

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

More info about this panel

Nephrolithiasis and Nephrocalcinosis Sequencing Panel Panel

By PreventionGenetics PreventionGenetics in United States. Nephrolithiasis and Nephrocalcinosis Sequencing Panel that also includes the following genes: OCRL APRT AGXT SLC3A1 SLC9A3R1 SLC2A9 SLC7A9 HNF4A ATP6V0A4 SLC22A12 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

SLC3A1 associated Cystinuria Panel

By Institute of Human Genetics Cologne University in Germany.

This panel specifically test the SLC3A1 gene.

More info about this panel

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: ACTA2 ACTN4 ALPL AGT APPL1 AGXT AGTR1 ACE BMP7 CHRM3 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: A2M CAV3 AMPD2 ARSI MAGI2 COL12A1 ALG2 GRID2 ITM2B TPP1 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: PLEC PSEN1 SLC16A1 RET F2 TJP2 RAF1 COL1A2 GCH1 IL21R 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: KCNJ11 KRAS SLC2A1 IL2 FGFR2 LAMB3 FBN1 CABS1 P2RX1 JAGN1 And 504 more,

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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: ADSL MTRR INSR OPA1 TPP1 FOXG1 NOS3 CLCN1 ELN PEX12 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: COL7A1 IVD NPC1 BCKDHA GCDH TPP1 FKTN GNPTAB CLCN1 MMADHC 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: PHB KCNQ1 SCN1B NDUFAF6 POLG ALDH7A1 FOXG1 SCN1A RAB11FIP5 TFAM 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

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: AGPAT2 HSD17B10 ACAA1 OXCT1 TREX1 MTHFR ACAD9 ACADL ADAR ALG12 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: MTHFR ADAMTS2 ALG6 ALPL AR AGXT ABCD1 IDUA AMH ARG1 And 288 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: CREBBP APC NFIA FBXW4 TSC2 RB1 STXBP1 CNTNAP2 OTOA FOXP2 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

KIF21A