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.

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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


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

KCNJ1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the KCNJ1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

KCNJ1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNJ1 gene.

More info about this panel

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

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

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

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

Bartter syndrome type 2 Panel

Spain.

By Bioarray

This panel specifically test the KCNJ1 gene.

More info about this panel

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

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

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

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

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

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


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