SLC12A1 gene related symptoms and diseases
All the information presented here about the SLC12A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC12A1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Increased circulating renin level | Uncommon - Between 30% and 50% cases |
Hypercalcemia | Uncommon - Between 30% and 50% cases |
Polyuria | Uncommon - Between 30% and 50% cases |
Diabetes insipidus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC12A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperparathyroidism
- Hyperaldosteronism
- Hypomagnesemia
- Renal salt wasting
- Alkalosis
- Chondrocalcinosis
- Tetany
- Parathyroid adenoma
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC12A1 gene
Here you will find a list of rare diseases related to the SLC12A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ANTENATAL BARTTER SYNDROME
Alternate names
ANTENATAL BARTTER SYNDROME Is also known as bartter syndrome, furosemide type, hyperprostaglandin e syndrome, bartter syndrome, furosemide-amiloride type
Description
Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome
More info about ANTENATAL BARTTER SYNDROME
SOURCES: ORPHANET
BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1
Alternate names
BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1, hypokalemic alkalosis with hypercalciuria 1, antenatal
Description
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.
Most common symptoms of BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1
SOURCES: OMIM
Search interest in SLC12A1
Potential gene panels for SLC12A1 gene
Hereditary Renal Tubular Disorders Evaluation Panel
By Athena Diagnostics Inc Hereditary Renal Tubular Disorders Evaluation that also includes the following genes: SLC12A1 SLC12A3 BSND CLCNKB KCNJ1
More info about this panelSLC12A1 DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the SLC12A1 gene.
More info about this panelHearing Loss Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panelAntenatal Bartter syndrome type 1 Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SLC12A1 gene.
More info about this panelExomePLUS Electrolyte & Kidney Stone Panel
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 panelSLC12A1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC12A1 gene.
More info about this panelSLC12A1, KCNJ1. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica SLC12A1, KCNJ1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SLC12A1 KCNJ1
More info about this panelNon syndromic deafness AR and XL (NGS panel for 56 genes) Panel
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panelSyndromic and non syndromic deafness (NGS panel for 127 genes) Panel
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panelNon syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panelBartter syndrome type 1 (sequence analysis of SLC12A1 gene) Panel
By CGC Genetics
This panel specifically test the SLC12A1 gene.
More info about this panelAntenatal Bartter Syndrome Type 1 Panel
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the SLC12A1 gene.
More info about this panelBartter syndrome antenatal type 1 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC12A1 gene.
More info about this panelAntenatal Bartter syndrome type 1 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC12A1 gene.
More info about this panelBartter Syndrome Type 1 via SLC12A1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC12A1 gene.
More info about this panelNephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
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 panelNephrolithiasis and related disorders NGS panel Panel
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 panelNephrolithiasis and related disorders Comprehensive panel Panel
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 panelNephrolithiasis and related disorders Deletion / Duplication panel Panel
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 panelBartter syndrome and related disorders NGS panel Panel
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 panelBartter syndrome and related disorders Deletion / Duplication panel Panel
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 panelBartter syndrome and related disorders Comprehensive panel Panel
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 panelBartter syndrome Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Bartter syndrome that also includes the following genes: SLC12A1 MAGED2 BSND CLCNKA CLCNKB KCNJ1
More info about this panelHereditary kidney disorders - different panels Panel
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 panelNephrology Endocrinology and Electrolytes - panels Panel
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 panelAntenatal Bartter Syndrome Type 1 Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SLC12A1 gene.
More info about this panelBartter Syndrome panel Panel
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 panelBartter syndrome, type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC12A1 gene.
More info about this panelDeafness, non-syndromic sensorineural AR panel Panel
By Centogene AG - the Rare Disease Company Deafness, non-syndromic sensorineural AR panel that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C ESPN CDH23 PCDH15 STRC WHRN
More info about this panelBartter Syndrome Panel Panel
By CeGaT GmbH Bartter Syndrome Panel that also includes the following genes: SLC12A1 SLC12A3 CASR BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panelAntenatal Bartter Syndrome Type 1,SLC12A1 Panel
By GGA - Galil Genetic Analysis
This panel specifically test the SLC12A1 gene.
More info about this panelAntenatal Bartter Syndrome Type 1 Panel
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the SLC12A1 gene.
More info about this panelqChip Panel
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 panelBartter syndrome, type 1: SLC12A1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC12A1 gene.
More info about this panelBARTTER SYNDROME Panel
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 panelSLC12A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC12A1 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelBartter Syndrome Panel Panel
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 panelNephrolithiasis Panel Panel
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 panelBartter syndrome type 1 Panel
By Bioarray
This panel specifically test the SLC12A1 gene.
More info about this panelSLC12A1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SLC12A1 gene.
More info about this panelBARTTER SYNDROME, ANTENATAL, TYPE 1 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC12A1 gene.
More info about this panelDEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panelBARTTER SYNDROME NGS PANEL Panel
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 panelAntenatal Bartter Syndrome Type 1, Sequencing SLC12A1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC12A1 gene.
More info about this panelBartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Panel
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
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