SLC5A1 gene related symptoms and diseases
All the information presented here about the SLC5A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC5A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Diarrhea | Very Common - Between 80% and 100% cases |
| Weight loss | Very Common - Between 80% and 100% cases |
| Acidosis | Very Common - Between 80% and 100% cases |
| Malabsorption | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC5A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Metabolic acidosis
- Abdominal distention
- Dehydration
- Chronic diarrhea
- Glycosuria
- Hypernatremia
- Abnormal oral glucose tolerance
- Hypertonic dehydration
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC5A1 gene
Here you will find a list of rare diseases related to the SLC5A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLUCOSE-GALACTOSE MALABSORPTION
Alternate names
GLUCOSE-GALACTOSE MALABSORPTION Is also known as monosaccharide malabsorption, sglt1 deficiency, gm
Description
Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.
Most common symptoms of GLUCOSE-GALACTOSE MALABSORPTION
- Failure to thrive
- Diarrhea
- Weight loss
- Acidosis
- Malabsorption
More info about GLUCOSE-GALACTOSE MALABSORPTION
Search interest in SLC5A1
Potential gene panels for SLC5A1 gene
SLC5A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC5A1 gene.
More info about this panel Spain.
Congenital Diarrhea Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Glucose/galactose malabsorption (sequence analysis of SLC5A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC5A1 gene.
More info about this panel Portugal.
Congenital glucose-galactose malabsorption Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC5A1 gene.
More info about this panel Germany.
Glucose-Galactose Malabsorption Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the SLC5A1 gene.
More info about this panel United Kingdom.
SLC5A1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the SLC5A1 gene.
More info about this panel Austria.
Invitae Rare Carbohydrate Disorders Panel Panel
United States.
By Invitae Invitae Rare Carbohydrate Disorders Panel that also includes the following genes: SLC5A1 FBP1
More info about this panel United States.
Congenital glucose-galactose malabsorption: sequence analysis of SLC5A1 Gene Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC5A1 gene.
More info about this panel Spain.
SLC5A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC5A1 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.
Congenital Diarrhea Panel Panel
Finland.
By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3
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.
Congenital Mono- and Disaccharide Disorders Panel Panel
Finland.
By Blueprint Genetics Congenital Mono- and Disaccharide Disorders Panel that also includes the following genes: SI SLC2A1 SLC2A2 SLC5A1 GALE GALK1 GALT ALDOB LCT
More info about this panel Finland.
Glucose-galactose malabsorption Panel
Spain.
By Bioarray
This panel specifically test the SLC5A1 gene.
More info about this panel Spain.
SLC5A1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SLC5A1 gene.
More info about this panel United States.
Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SLC5A1 gene.
More info about this panel United States.
GLUCOSE-GALACTOSE MALABSORPTION Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC5A1 gene.
More info about this panel Spain.
Glucose-Galactose Malabsorption , Sequencing SLC5A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC5A1 gene.
More info about this panel Spain.
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