SCNN1B gene related symptoms and diseases
All the information presented here about the SCNN1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCNN1B gene
Symptoms // Phenotype | % Cases |
---|---|
Hypokalemia | Uncommon - Between 30% and 50% cases |
Alkalosis | Uncommon - Between 30% and 50% cases |
Metabolic alkalosis | Uncommon - Between 30% and 50% cases |
Decreased circulating renin level | Uncommon - Between 30% and 50% cases |
Hypokalemic metabolic alkalosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SCNN1B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Renal insufficiency
- Hypertension
- Pseudohypoaldosteronism
- Hyperaldosteronism
- Dehydration
Rarely - Less than 30% cases
- Abnormal lung morphology
- Nephrosclerosis
- Hypokalemic alkalosis
And 32 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCNN1B gene
Here you will find a list of rare diseases related to the SCNN1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1
Alternate names
GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as pha i, autosomal recessive, autosomal recessive pseudohypoaldosteronism type 1
Description
Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
Most common symptoms of GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1
- Failure to thrive
- Vomiting
- Diarrhea
- Recurrent respiratory infections
- Acidosis
More info about GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1
LIDDLE SYNDROME
Alternate names
LIDDLE SYNDROME Is also known as pseudohyperaldosteronism type 1, pseudoaldosteronism
Description
Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
Most common symptoms of LIDDLE SYNDROME
- Muscle weakness
- Hypertension
- Fatigue
- Renal insufficiency
- Arrhythmia
More info about LIDDLE SYNDROME
LIDDLE SYNDROME 1; LIDLS1
Alternate names
LIDDLE SYNDROME 1; LIDLS1 Is also known as lidls, liddle syndrome, pseudoaldosteronism, pseudohyperaldosteronism
Description
Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014).
Most common symptoms of LIDDLE SYNDROME 1; LIDLS1
- Hypertension
- Renal insufficiency
- Stroke
- Stage 5 chronic kidney disease
- Abnormality of the cardiovascular system
More info about LIDDLE SYNDROME 1; LIDLS1
SOURCES: OMIM
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1
Alternate names
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 Is also known as cystic fibrosis-like syndrome
Most common symptoms of BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1
- Dehydration
- Abnormal lung morphology
- Bronchiectasis
- Sinusitis
- Recurrent pneumonia
More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1
IDIOPATHIC BRONCHIECTASIS
Description
Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).
More info about IDIOPATHIC BRONCHIECTASIS
SOURCES: ORPHANET
Search interest in SCNN1B
Potential gene panels for SCNN1B gene
Pseudohypoaldosteronism Type 1 Evaluation (SCNN1A, SCNN1B, SCNN1G) Panel
By Athena Diagnostics Inc Pseudohypoaldosteronism Type 1 Evaluation (SCNN1A, SCNN1B, SCNN1G) that also includes the following genes: SCNN1A SCNN1B SCNN1G
More info about this panelSCNN1B DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the SCNN1B gene.
More info about this panelMonogenic Hypertension Evaluation Panel
By Athena Diagnostics Inc Monogenic Hypertension Evaluation that also includes the following genes: SCNN1B SCNN1G CYP11B1 HSD11B2
More info about this panelLiddle's Syndrome Evaluation Panel
By Athena Diagnostics Inc Liddle's Syndrome Evaluation that also includes the following genes: SCNN1B SCNN1G
More info about this panelComprehensive Pulmonary Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelPrimary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Primary Ciliary Dyskinesia and Cystic Fibrosis Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS
More info about this panelCystic Fibrosis and CF-Related Disorders NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Cystic Fibrosis and CF-Related Disorders NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G CA12 CFTR
More info about this panelCystic Fibrosis Related Disorders NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Cystic Fibrosis Related Disorders NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G CA12
More info about this panelPseudohypoaldosteronism Type 1 NGS panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Pseudohypoaldosteronism Type 1 NGS panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NR3C2
More info about this panelLiddle Syndrome (pseudoprimary hyperaldosteronism) Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Liddle Syndrome (pseudoprimary hyperaldosteronism) that also includes the following genes: SCNN1B SCNN1G
More info about this panelLiddle syndrome Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SCNN1B gene.
More info about this panelBronchiectasis Panel (17 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Bronchiectasis Panel (17 Genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G RSPH1 NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A
More info about this panelPulmoGene Panel (64 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
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 panelSCNN1B . Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCNN1B gene.
More info about this panelSCNN1B . Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCNN1B gene.
More info about this panelLiddle syndrome (sequence analysis of SCNN1B gene) Panel
By CGC Genetics
This panel specifically test the SCNN1B gene.
More info about this panelPseudohypoaldosteronism type I (sequence analysis of SCNN1B gene) Panel
By CGC Genetics
This panel specifically test the SCNN1B gene.
More info about this panelPseudohypoaldosteronism (NGS panel of 9 genes) Panel
By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2
More info about this panelPseudohypoaldosteronism (NGS panel of 9 genes) Panel
By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2
More info about this panelPseudohypoaldosteronism type 1 autosomal recessive Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Pseudohypoaldosteronism type 1 autosomal recessive that also includes the following genes: SCNN1A SCNN1B SCNN1G
More info about this panelBronchiectasis Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bronchiectasis that also includes the following genes: SCNN1A SCNN1B SCNN1G
More info about this panelBronchiectasis with or without elevated sweat chloride 1 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SCNN1B gene.
More info about this panelLiddle syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Liddle syndrome that also includes the following genes: SCNN1B SCNN1G STK39 NEDD4 NEDD4L NR3C2 OXSR1
More info about this panelLiddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via SCNN1B Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SCNN1B gene.
More info about this panelPseudohypoaldosteronism Type I Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection that also includes the following genes: SCNN1A SCNN1B SCNN1G NR3C2
More info about this panelLiddle syndrome Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Liddle syndrome that also includes the following genes: SCNN1B SCNN1G
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 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 panelPseudohypoaldosteronism, type I, autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SCNN1B gene.
More info about this panelLiddle syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SCNN1B gene.
More info about this panelComprehensive pulmonary disease panel Panel
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panelPseudohypoaldosteronism Panel Panel
By CeGaT GmbH Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2
More info about this panelSingle gene testing SCNN1B Panel
By CeGaT GmbH
This panel specifically test the SCNN1B gene.
More info about this panelLiddle syndrome: SCNN1B gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCNN1B gene.
More info about this panelPseudohypoaldosteronism type 1, autosomal reccesive: SCNN1B gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCNN1B 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 panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panelBronchiectasis: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bronchiectasis: Sequencing Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1
More info about this panelPulmonary Disease: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panelBronchiectasis: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bronchiectasis: Deletion/Duplication Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1
More info about this panelBronchiectasis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Bronchiectasis NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1
More info about this panelLung Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panelSCNN1B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCNN1B 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 panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelPseudohypoaldosteronism Panel Panel
By Blueprint Genetics Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KCNJ5 KLHL3 NR3C2
More info about this panelLiddle Syndrome Panel Panel
By Blueprint Genetics Liddle Syndrome Panel that also includes the following genes: SCNN1B SCNN1G
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelComprehensive Pulmonology Panel Panel
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panelBronchiectasis Panel Panel
By Blueprint Genetics Bronchiectasis Panel that also includes the following genes: SCNN1A SCNN1B NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1 CCDC39
More info about this panelStudy of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel
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 panelLiddle syndrome Panel
By Bioarray
This panel specifically test the SCNN1B gene.
More info about this panelPseudohypoaldosteronism type 1, autosomal recessive Panel
By Bioarray
This panel specifically test the SCNN1B gene.
More info about this panelLIDDLE SYNDROME (PSEUDOALDOSTERONISM) Panel
By Laboratorio de Genetica Clinica SL LIDDLE SYNDROME (PSEUDOALDOSTERONISM) that also includes the following genes: SCNN1B SCNN1G
More info about this panelPSEUDOHYPOALDOSTERONISM, GENERALIZED, TYPE 1 (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL PSEUDOHYPOALDOSTERONISM, GENERALIZED, TYPE 1 (AUTOSOMAL RECESSIVE) that also includes the following genes: SCNN1A SCNN1B SCNN1G
More info about this panelPSEUDOHYPERALDOSTERONISM TYPE 1 (LIDDLE SYNDROME) Panel
By Laboratorio de Genetica Clinica SL PSEUDOHYPERALDOSTERONISM TYPE 1 (LIDDLE SYNDROME) that also includes the following genes: SCNN1B SCNN1G
More info about this panelPSEUDOHYPOALDOSTERONISM NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PSEUDOHYPOALDOSTERONISM NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2
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 panelLiddle Disease, Sequencing SCNN1B Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SCNN1B gene.
More info about this panelAutosomal Recessive Pseudohypoaldosteronism Type 1 , Sequencing SCNN1B Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SCNN1B 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
More info about this panelPseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2
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