TRPM4 gene related symptoms and diseases

All the information presented here about the TRPM4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TRPM4 gene

Symptoms // Phenotype % Cases
Arrhythmia Very Common - Between 80% and 100% cases
Sudden cardiac death Very Common - Between 80% and 100% cases
Syncope Very Common - Between 80% and 100% cases
Left anterior fascicular block Very Common - Between 80% and 100% cases
Atrioventricular block Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TRPM4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Right bundle branch block
  • Bundle branch block
  • Left bundle branch block
  • Prolonged QRS complex
  • Ventricular fibrillation
  • Seizures
  • Left posterior fascicular block
  • Shortened PR interval

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TRPM4 gene

Here you will find a list of rare diseases related to the TRPM4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT


Alternate names

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT Is also known as familial lev disease, familial lenÈgre disease, familial lev-lenÈgre disease, pfhbib, hereditary bundle branch defect, familial pccd, familial progressive heart block

Description

Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

  • Arrhythmia
  • Abnormal heart morphology
  • Abdominal pain
  • Dyspnea
  • Vertigo


More info about FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

SOURCES: OMIM ORPHANET

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A


Alternate names

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A Is also known as bundle branch block, hbbd, pccd, pfhbia, heart block, progressive familial, type i, pfhbi, lenegre-lev disease, cardiac conduction defect, progressive, hereditary bundle branch system defect

Description

Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., 1988). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; {140400}), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (Brink et al., 1995). Genetic Heterogeneity of Progressive Familial Heart Block Type IProgressive familial heart block type IB (PFHB1B ) is caused by mutation in the TRPM4 gene (OMIM ) on chromosome 19q13.32.

Most common symptoms of PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

  • Seizures
  • Arrhythmia
  • Dyspnea
  • Sudden cardiac death
  • Syncope


More info about PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

SOURCES: OMIM

BRUGADA SYNDROME


Alternate names

BRUGADA SYNDROME Is also known as dream disease, idiopathic ventricular fibrillation, brugada type, sudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome, sunds

Description

Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.

Most common symptoms of BRUGADA SYNDROME

  • Seizures
  • Pain
  • Arrhythmia
  • Vertigo
  • Tachycardia


More info about BRUGADA SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for TRPM4 gene

Brugada Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNB2 SLMAP HCN4 TRPM4 SCN3B GPD1L

More info about this panel

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1

More info about this panel

Brugada Syndrome Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Brugada Syndrome that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 HCN4 TRPM4 SCN3B GPD1L KCNE3

More info about this panel

Comprehensive Arrhythmias Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Arrhythmias Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1 CASQ2

More info about this panel

Atrioventricular Block Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atrioventricular Block Panel that also includes the following genes: SCN1B SCN5A TRPM4 NKX2-5 DES EMD LMNA

More info about this panel

Brugada Syndrome Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4

More info about this panel

Cardiac Channelopathy Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cardiac Channelopathy Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNA2D1 CACNB2

More info about this panel

TRPM4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TRPM4 gene.

More info about this panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG

More info about this panel

CardioNext with TTN Panel

United States.

By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5

More info about this panel

CustomNext: Cardio Panel

United States.

By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20

More info about this panel

RhythmNext Panel

United States.

By Ambry Genetics RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1

More info about this panel

RhythmFirst reflex RhythmNext Panel

United States.

By Ambry Genetics RhythmFirst reflex RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1

More info about this panel

TRPM4 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the TRPM4 gene.

More info about this panel

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C

More info about this panel

Brugada Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Brugada Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Progressive Familial Heart Block via TRPM4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TRPM4 gene.

More info about this panel

Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNI3 TRDN

More info about this panel

Atrioventricular block Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Atrioventricular block Deletion/ Duplication panel that also includes the following genes: SCN1B SCN5A TRPM4 NKX2-5 DES EMD LMNA

More info about this panel

Cardiac channelopathy Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy Deletion/ Duplication panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Cardiac channelopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy Comprehensive panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Cardiac channelopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy NGS panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Progressive familial heart block type I NGS panel Panel

United States.

By Connective Tissue Gene Tests Progressive familial heart block type I NGS panel that also includes the following genes: SCN5A TRPM4

More info about this panel

Progressive familial heart block type I Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Progressive familial heart block type I Comprehensive panel that also includes the following genes: SCN5A TRPM4

More info about this panel

Progressive familial heart block type I Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Progressive familial heart block type I Deletion / Duplication panel that also includes the following genes: SCN5A TRPM4

More info about this panel

Progressive familial heart block Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TRPM4 gene.

More info about this panel

Brugada Syndrome Panel Panel

Germany.

By CeGaT GmbH Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 TRPM4 SCN3B GPD1L

More info about this panel

Brugada Syndrome/TRPM4 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the TRPM4 gene.

More info about this panel

Cardio-channelopathy-gene-panel Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner Cardio-channelopathy-gene-panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1

More info about this panel

Brugada Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brugada Syndrome that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNB2 HCN4 TRPM4 SCN3B GPD1L KCND3

More info about this panel

J Wave Syndrome Panel Panel

Spain.

By Health in Code J Wave Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Brugada Syndrome Panel Panel

Spain.

By Health in Code Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

More info about this panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4

More info about this panel

Cardiac Conduction Disease Panel Panel

Spain.

By Health in Code Cardiac Conduction Disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 LDB3 HCN4

More info about this panel

Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2

More info about this panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Cardiac conduction disease Panel Panel

Spain.

By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17

More info about this panel

Brugada syndrome / J wave syndrome Panel

Spain.

By Health in Code Brugada syndrome / J wave syndrome that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

BRUGADA SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BRUGADA SYNDROME that also includes the following genes: SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 RANGRF TRPM4 SCN3B GPD1L

More info about this panel

Arrhythmias: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmias: Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1 CASQ2

More info about this panel

Comprehensive Cardiovascular: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF

More info about this panel

TRPM4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRPM4 gene.

More info about this panel

Brugada Syndrome Panel Panel

Finland.

By Blueprint Genetics Brugada Syndrome Panel that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 CAV3 HCN4 TRPM4 SCN3B KCNH2

More info about this panel

Arrhythmia Panel Panel

Finland.

By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN

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

Brugada Syndrome Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 TRPM4 SCN3B GPD1L

More info about this panel

TRPM4 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 TRPM4 gene.

More info about this panel

Cardiac Arrhythmia Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiac Arrhythmia Exome Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN TTN CACNA1C

More info about this panel

TRPM4 Gene, entire coding region or targeted variant Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute

This panel specifically test the TRPM4 gene.

More info about this panel

BRUGADA SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL BRUGADA SYNDROME that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 HCN4 TRPM4 SCN3B GPD1L KCNE3

More info about this panel

BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCNN1A SNTA1 TRDN CACNA1C

More info about this panel

Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel

Spain.

By Reference Laboratory Genetics Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNC1 TNNI3

More info about this panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

More info about this panel

Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SCN10A SCN1B SCN5A TBX5 TTR CACNA1D ACTC1 HCN4 TRPM4 TNNI3K

More info about this panel


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