SLC12A3 gene related symptoms and diseases
All the information presented here about the SLC12A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC12A3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Alkalosis | Uncommon - Between 30% and 50% cases |
| Ventricular tachycardia | Uncommon - Between 30% and 50% cases |
| Ventricular arrhythmia | Uncommon - Between 30% and 50% cases |
| Hyperkinesis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC12A3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypokalemia
- Hypercalciuria
- Polydipsia
- Polyuria
- Blurred vision
- Prolonged QT interval
- Rhabdomyolysis
- Episodic fever
And 54 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC12A3 gene
Here you will find a list of rare diseases related to the SLC12A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GITELMAN SYNDROME
Alternate names
GITELMAN SYNDROME Is also known as primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Description
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
More info about GITELMAN SYNDROME
SOURCES: ORPHANET
GITELMAN SYNDROME; GTLMNS
Alternate names
GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria, potassium and magnesium depletion
Description
Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.
Most common symptoms of GITELMAN SYNDROME; GTLMNS
- Seizures
- Short stature
- Generalized hypotonia
- Ataxia
- Growth delay
More info about GITELMAN SYNDROME; GTLMNS
Search interest in SLC12A3
Potential gene panels for SLC12A3 gene
SLC12A3 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the SLC12A3 gene.
More info about this panel United States.
Hereditary Renal Tubular Disorders Evaluation Panel
United States.
By Athena Diagnostics Inc Hereditary Renal Tubular Disorders Evaluation that also includes the following genes: SLC12A1 SLC12A3 BSND CLCNKB KCNJ1
More info about this panel United States.
SLC12A3 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC12A3 gene.
More info about this panel United States.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
SLC12A3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC12A3 gene.
More info about this panel Spain.
Gitelman syndrome (sequence analysis of SLC12A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Portugal.
Gitelman syndrome (analysis of deletion/duplication of SLC12A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
GITELMAN SYNDROME Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the SLC12A3 gene.
More info about this panel Belgium.
Familial hypokalemia-hypomagnesemia Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
Gitelman syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
Gitelman Syndrome via SLC12A3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC12A3 gene.
More info about this panel United States.
Hypomagnesemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panel United States.
Bartter syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Bartter syndrome and related disorders NGS panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel United States.
Bartter syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Bartter syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel United States.
Bartter syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Bartter syndrome and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel United States.
Gitelman syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the SLC12A3 gene.
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.
Gitelman Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
SLC12A3 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SLC12A3 gene.
More info about this panel Netherlands.
Bartter Syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Bartter Syndrome panel that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panel Germany.
Bartter syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
Gitelman syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
Bartter Syndrome Panel Panel
Germany.
By CeGaT GmbH Bartter Syndrome Panel that also includes the following genes: SLC12A1 SLC12A3 CASR BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel Germany.
Single gene testing SLC12A3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
Gitelman syndrome, SLC12A3 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SLC12A3 gene.
More info about this panel United States.
Gitelman Syndrome Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the SLC12A3 gene.
More info about this panel Germany.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Gitelman syndrome: SLC12A3 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC12A3 gene.
More info about this panel Spain.
Gitelman syndrome: SLC12A3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC12A3 gene.
More info about this panel Spain.
BARTTER SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BARTTER SYNDROME that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panel Spain.
SLC12A3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel United States.
Hypomagnesemia Panel Panel
Finland.
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panel Finland.
Bartter Syndrome Panel Panel
Finland.
By Blueprint Genetics Bartter Syndrome Panel that also includes the following genes: SLC12A1 SLC12A3 CASR BSND CLCNKA CLCNKB GNA11 AP2S1 KCNJ1
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.
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel
Portugal.
By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A
More info about this panel Portugal.
Gitelman syndrome Panel
Spain.
By Bioarray
This panel specifically test the SLC12A3 gene.
More info about this panel Spain.
SLC12A3 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 SLC12A3 gene.
More info about this panel United States.
GITELMAN SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL GITELMAN SYNDROME that also includes the following genes: SLC12A3 CLCNKB
More info about this panel Spain.
HYPOMAGNESEMIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA NGS PANEL that also includes the following genes: CNNM2 SLC12A3 HNF1B TRPM6 CLDN16 CLDN19 EGF FXYD2 KCNA1
More info about this panel Spain.
BARTTER SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BARTTER SYNDROME NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panel Spain.
Bartter syndrome Panel
Canada.
By LifeLabs Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Canada.
Gitelman syndrome Panel
Canada.
By LifeLabs Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Canada.
Bartter syndrome Panel
Canada.
By LifeLabs Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Canada.
Gitelman Syndrome, Sequencing SLC12A3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Spain.
Gitelman Syndrome, Deletions-Duplications (MLPA) SLC12A3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC12A3 gene.
More info about this panel Spain.
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Panel
Spain.
By Reference Laboratory Genetics Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 CA2 WNK1 WNK4 CASR BSND
More info about this panel Spain.
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR SARS2 TRPM6 CLCNKB CLDN16 CLDN19 EGF
More info about this panel Spain.
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