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: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC3A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cystinuria | Common - Between 50% and 80% cases |
| Nephrolithiasis | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Frontal bossing | Uncommon - Between 30% and 50% cases |
| Depressed nasal bridge | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC3A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Muscular hypotonia
- Intellectual disability, moderate
- Failure to thrive
- Growth delay
- Global developmental delay
- Seizures
- Lactic acidosis
- Decreased fetal movement
And 55 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC3A1 gene
Here you 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.
CYSTINURIA TYPE A
CYSTINURIA
Alternate names
CYSTINURIA Is also known as cystinuria, type non-i, formerly, cystinuria, type i, formerly, cystinuria, type iii, formerly, csnu1, formerly, csnu, csnu3, formerly, cystinuria, type ii, 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
- Intellectual disability
- Pain
- Renal insufficiency
- Abnormality of the nervous system
- Nausea
More info about CYSTINURIA
HYPOTONIA-CYSTINURIA SYNDROME
Alternate names
HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease, hcs, homozygous 2p16 deletion syndrome, formerly
Description
Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Most common symptoms of HYPOTONIA-CYSTINURIA SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
More info about HYPOTONIA-CYSTINURIA SYNDROME
2P21 MICRODELETION SYNDROME
Alternate names
2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome, monosomy 2p21, del(2)(p21)
Description
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
Most common symptoms of 2P21 MICRODELETION SYNDROME
- Seizures
- Global developmental delay
- Growth delay
- Failure to thrive
- Muscular hypotonia
More info about 2P21 MICRODELETION SYNDROME
SOURCES: ORPHANET
ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME
Alternate names
ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME Is also known as atypical hcs
Description
Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
More info about ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME
SOURCES: ORPHANET
Search interest in SLC3A1
Potential gene panels for SLC3A1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
SLC3A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC3A1 gene.
More info about this panel Spain.
SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS that also includes the following genes: SLC3A1 SLC7A9
More info about this panel Spain.
Cystinuria (sequence analysis of SLC3A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC3A1 gene.
More info about this panel Portugal.
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) Panel
Portugal.
By CGC Genetics 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 Portugal.
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) Panel
Portugal.
By CGC Genetics 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 Portugal.
Cystinuria Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Cystinuria that also includes the following genes: SLC3A1 SLC7A9
More info about this panel Germany.
Cystinuria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cystinuria Sequencing Panel with CNV Detection that also includes the following genes: SLC3A1 SLC7A9
More info about this panel United States.
Cystinuria via SLC3A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC3A1 gene.
More info about this panel United States.
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Cystinuria Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Cystinuria that also includes the following genes: SLC3A1 SLC7A9
More info about this panel Germany.
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 Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Cystinuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC3A1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Single gene testing SLC3A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC3A1 gene.
More info about this panel Germany.
Cystinuria Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC3A1 gene.
More info about this panel Austria.
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 Spain.
Cystinuria Panel
Slovakia.
By MedGene
This panel specifically test the SLC3A1 gene.
More info about this panel Slovakia.
Invitae Cystinuria Panel Panel
United States.
By Invitae Invitae Cystinuria Panel that also includes the following genes: SLC3A1 SLC7A9 PREPL
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
SLC3A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC3A1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Cystinuria Panel Panel
Finland.
By Blueprint Genetics Cystinuria Panel that also includes the following genes: SLC3A1 SLC7A9
More info about this panel Finland.
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 Finland.
Nephrolithiasis Panel Panel
Finland.
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel Finland.
Cystinuria Panel
Spain.
By Bioarray
This panel specifically test the SLC3A1 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
CYSTINURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL CYSTINURIA that also includes the following genes: SLC3A1 SLC7A9
More info about this panel Spain.
Cystinuria Panel
Canada.
By LifeLabs Genetics
This panel specifically test the SLC3A1 gene.
More info about this panel Canada.
Cystinuria Type A , Sequencing SLC3A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC3A1 gene.
More info about this panel Spain.
Cystinuria , Panel Massive Sequencing (NGS) SLC3A1, SLC7A9 Genes Panel
Spain.
By Reference Laboratory Genetics Cystinuria , Panel Massive Sequencing (NGS) SLC3A1, SLC7A9 Genes that also includes the following genes: SLC3A1 SLC7A9
More info about this panel Spain.
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