CLCNKB gene related symptoms and diseases
All the information presented here about the CLCNKB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLCNKB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Polyuria | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Hypercalciuria | Common - Between 50% and 80% cases |
| Dehydration | Common - Between 50% and 80% cases |
| Renal salt wasting | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CLCNKB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Alkalosis
- Metabolic alkalosis
- Hypokalemic metabolic alkalosis
- Hypokalemia
Not very common - Between 30% and 50% cases
- Hypokalemic alkalosis
- Increased circulating renin level
- Increased urinary potassium
- Hyperaldosteronism
And 112 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLCNKB gene
Here you will find a list of rare diseases related to the CLCNKB. 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
CLASSIC BARTTER SYNDROME
Alternate names
CLASSIC BARTTER SYNDROME Is also known as bartter syndrome type iii, adult bartter syndrome, bartter syndrome type 3
Description
Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
More info about CLASSIC BARTTER SYNDROME
SOURCES: ORPHANET
INFANTILE BARTTER SYNDROME WITH SENSORINEURAL DEAFNESS
Alternate names
INFANTILE BARTTER SYNDROME WITH SENSORINEURAL DEAFNESS Is also known as bartter syndrome type iv, bartter syndrome type 4
Description
Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.
More info about INFANTILE BARTTER SYNDROME WITH SENSORINEURAL DEAFNESS
SOURCES: ORPHANET
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B
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 (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) 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 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 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B
- Intellectual disability
- Short stature
- Generalized hypotonia
- Failure to thrive
- Sensorineural hearing impairment
More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B
BARTTER SYNDROME, TYPE 3; BARTS3
Alternate names
BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic
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 (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) 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 present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
Most common symptoms of BARTTER SYNDROME, TYPE 3; BARTS3
- Intellectual disability
- Short stature
- Hearing impairment
- Growth delay
- Sensorineural hearing impairment
More info about BARTTER SYNDROME, TYPE 3; BARTS3
SOURCES: OMIM
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 CLCNKB
Potential gene panels for CLCNKB gene
CLCNKB DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CLCNKB 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.
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
CLCNKB 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 CLCNKB 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.
CLCNKB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLCNKB gene.
More info about this panel Spain.
Bartter Syndrome type 3 (sequence analysis of CLCNKB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLCNKB 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.
Bartter Syndrome Type 3 Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the CLCNKB gene.
More info about this panel Belgium.
Bartter syndrome type 4 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bartter syndrome type 4 that also includes the following genes: BSND CLCNKA CLCNKB
More info about this panel Germany.
Bartter syndrome, type 3 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CLCNKB gene.
More info about this panel Germany.
Bartter syndrome, type 4b Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bartter syndrome, type 4b that also includes the following genes: CLCNKA CLCNKB
More info about this panel Germany.
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.
Bartter Syndrome Type 3 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CLCNKB 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 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLCNKB 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.
Bartter Syndrome Type 3, CLCNKB Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the CLCNKB gene.
More info about this panel Israel.
Bartter Syndrome Type 3 Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the CLCNKB 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 3: CLCNKB gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CLCNKB 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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
CLCNKB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLCNKB 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.
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.
Bartter syndrome type 3 Panel
Spain.
By Bioarray
This panel specifically test the CLCNKB gene.
More info about this panel Spain.
CLCNKB 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 CLCNKB 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.
BARTTER SYNDROME, CLASSIC ,TYPE 3 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CLCNKB 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 3, Sequencing CLCNKB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCNKB gene.
More info about this panel Spain.
Bartter Syndrome Type 3, Deletions-Duplications (MLPA) CLCNKB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCNKB 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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