KCNJ1 gene related symptoms and diseases
All the information presented here about the KCNJ1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNJ1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hypocalciuria | Uncommon - Between 30% and 50% cases |
| Hyperthyroidism | Uncommon - Between 30% and 50% cases |
| Hyperaldosteronism | Uncommon - Between 30% and 50% cases |
| Hypomagnesemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KCNJ1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Renal salt wasting
- Abnormally large globe
- Alkalosis
- Chondrocalcinosis
- Tetany
- Metabolic alkalosis
- Impaired platelet aggregation
- Increased circulating renin level
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNJ1 gene
Here you will find a list of rare diseases related to the KCNJ1. 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 2, ANTENATAL; BARTS2
Alternate names
BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal, hyperprostaglandin e syndrome 2
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 2, ANTENATAL; BARTS2
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Failure to thrive
More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2
SOURCES: OMIM
Search interest in KCNJ1
Potential gene panels for KCNJ1 gene
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.
KCNJ1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the KCNJ1 gene.
More info about this panel United States.
Antenatal Bartter syndrome type 2 Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the KCNJ1 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.
KCNJ1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KCNJ1 gene.
More info about this panel Spain.
SLC12A1, KCNJ1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
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 panel Spain.
Bartter syndrome type 2 (sequence analysis of KCNJ1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNJ1 gene.
More info about this panel Portugal.
Antenatal Bartter Syndrome Type 2 Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the KCNJ1 gene.
More info about this panel Belgium.
Bartter syndrome antenatal type 2 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KCNJ1 gene.
More info about this panel Germany.
Antenatal Bartter syndrome type 2 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the KCNJ1 gene.
More info about this panel Germany.
Bartter Syndrome Type 2 via KCNJ1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KCNJ1 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.
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.
Bartter syndrome Panel
Germany.
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 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.
Antenatal Bartter Syndrome Type 2 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the KCNJ1 gene.
More info about this panel Germany.
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, type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNJ1 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.
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.
Antenatal Bartter Syndrome Type 2,KCNJ1 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the KCNJ1 gene.
More info about this panel Israel.
Bartter Syndrome Type 2 Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the KCNJ1 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.
Bartter syndrome type 2: KCNJ1 gene screening (exons 2 and 4) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KCNJ1 gene.
More info about this panel Spain.
Bartter syndrome type 2: KCNJ1 genes sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KCNJ1 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.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
KCNJ1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNJ1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
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.
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.
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.
Bartter syndrome type 2 Panel
Spain.
By Bioarray
This panel specifically test the KCNJ1 gene.
More info about this panel Spain.
KCNJ1 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 KCNJ1 gene.
More info about this panel United States.
BARTTER SYNDROME, ANTENATAL, TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the KCNJ1 gene.
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 Type 2, Sequencing KCNJ1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ1 gene.
More info about this panel Spain.
Bartter Syndrome Type 2 , Sequencing Exons (2-4) KCNJ1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ1 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.
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