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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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). Genetic Heterogeneity of Liddle SyndromeLiddle syndrome-2 (OMIM ) is caused by mutation in the SCNN1G gene (OMIM ), which encodes the ENaC gamma subunit. Liddle syndrome-3 (OMIM ) is caused by mutation in the SCNN1A gene (OMIM ), which encodes the ENaC alpha subunit.Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.

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

SOURCES: OMIM MESH

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


Potential gene panels for SCNN1B gene

Pseudohypoaldosteronism Type 1 Evaluation (SCNN1A, SCNN1B, SCNN1G) Panel

United States.

By Athena Diagnostics Inc Pseudohypoaldosteronism Type 1 Evaluation (SCNN1A, SCNN1B, SCNN1G) that also includes the following genes: SCNN1A SCNN1B SCNN1G

More info about this panel

SCNN1B DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SCNN1B gene.

More info about this panel

Monogenic Hypertension Evaluation Panel

United States.

By Athena Diagnostics Inc Monogenic Hypertension Evaluation that also includes the following genes: SCNN1B SCNN1G CYP11B1 HSD11B2

More info about this panel

Liddle's Syndrome Evaluation Panel

United States.

By Athena Diagnostics Inc Liddle's Syndrome Evaluation that also includes the following genes: SCNN1B SCNN1G

More info about this panel

Comprehensive Pulmonary Panel Panel

United States.

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 panel

Primary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel

United States.

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 panel

Cystic Fibrosis and CF-Related Disorders NGS Panel Panel

United States.

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 panel

Cystic Fibrosis Related Disorders NGS Panel Panel

United States.

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 panel

Pseudohypoaldosteronism Type 1 NGS panel Panel

United States.

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 panel

Liddle Syndrome (pseudoprimary hyperaldosteronism) Panel

United States.

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 panel

Liddle syndrome Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the SCNN1B gene.

More info about this panel

Bronchiectasis Panel (17 Genes) Panel

United States.

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 panel

PulmoGene Panel (64 Genes) Panel

United States.

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 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

SCNN1B . Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCNN1B gene.

More info about this panel

SCNN1B . Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCNN1B gene.

More info about this panel

Liddle syndrome (sequence analysis of SCNN1B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCNN1B gene.

More info about this panel

Pseudohypoaldosteronism type I (sequence analysis of SCNN1B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCNN1B gene.

More info about this panel

Pseudohypoaldosteronism (NGS panel of 9 genes) Panel

Portugal.

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 panel

Pseudohypoaldosteronism (NGS panel of 9 genes) Panel

Portugal.

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 panel

Pseudohypoaldosteronism type 1 autosomal recessive Panel

Germany.

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 panel

Bronchiectasis Panel

Germany.

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 panel

Bronchiectasis with or without elevated sweat chloride 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the SCNN1B gene.

More info about this panel

Liddle syndrome Panel

Germany.

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 panel

Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via SCNN1B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SCNN1B gene.

More info about this panel

Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection Panel

United States.

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 panel

Liddle syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Liddle syndrome that also includes the following genes: SCNN1B SCNN1G

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

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

Pseudohypoaldosteronism, type I, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCNN1B gene.

More info about this panel

Liddle syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCNN1B gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

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 panel

Pseudohypoaldosteronism Panel Panel

Germany.

By CeGaT GmbH Pseudohypoaldosteronism Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 HSD11B2 KLHL3 NR3C2

More info about this panel

Single gene testing SCNN1B Panel

Germany.

By CeGaT GmbH

This panel specifically test the SCNN1B gene.

More info about this panel

Liddle syndrome: SCNN1B gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SCNN1B gene.

More info about this panel

Pseudohypoaldosteronism type 1, autosomal reccesive: SCNN1B gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SCNN1B 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

Ciliopathies: Sequencing Panel Panel

United States.

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 panel

Bronchiectasis: Sequencing Panel Panel

United States.

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 panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

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 panel

Bronchiectasis: Deletion/Duplication Panel Panel

United States.

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 panel

Bronchiectasis NGS Panel Panel

United States.

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 panel

Lung Disorders NGS Panel Panel

United States.

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 panel

SCNN1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCNN1B gene.

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

Cardiomyopathy Panel Panel

Finland.

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 panel

Pseudohypoaldosteronism Panel Panel

Finland.

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 panel

Liddle Syndrome Panel Panel

Finland.

By Blueprint Genetics Liddle Syndrome Panel that also includes the following genes: SCNN1B SCNN1G

More info about this panel

Comprehensive Cardiology Panel Panel

Finland.

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 panel

Comprehensive Pulmonology Panel Panel

Finland.

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 panel

Bronchiectasis Panel Panel

Finland.

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 panel

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

Liddle syndrome Panel

Spain.

By Bioarray

This panel specifically test the SCNN1B gene.

More info about this panel

Pseudohypoaldosteronism type 1, autosomal recessive Panel

Spain.

By Bioarray

This panel specifically test the SCNN1B gene.

More info about this panel

LIDDLE SYNDROME (PSEUDOALDOSTERONISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL LIDDLE SYNDROME (PSEUDOALDOSTERONISM) that also includes the following genes: SCNN1B SCNN1G

More info about this panel

PSEUDOHYPOALDOSTERONISM, GENERALIZED, TYPE 1 (AUTOSOMAL RECESSIVE) Panel

Spain.

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 panel

PSEUDOHYPERALDOSTERONISM TYPE 1 (LIDDLE SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL PSEUDOHYPERALDOSTERONISM TYPE 1 (LIDDLE SYNDROME) that also includes the following genes: SCNN1B SCNN1G

More info about this panel

PSEUDOHYPOALDOSTERONISM NGS PANEL Panel

Spain.

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 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

Liddle Disease, Sequencing SCNN1B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SCNN1B gene.

More info about this panel

Autosomal Recessive Pseudohypoaldosteronism Type 1 , Sequencing SCNN1B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SCNN1B 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

Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

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

More info about this panel


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