NPPA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NPPA gene

Symptoms // Phenotype % Cases
Palpitations Very Common - Between 80% and 100% cases
Syncope Common - Between 50% and 80% cases
Atrial fibrillation Common - Between 50% and 80% cases
Stroke Common - Between 50% and 80% cases
Tachycardia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NPPA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Atrial standstill
  • Paroxysmal atrial fibrillation
  • Cardiomyopathy
  • Atrial cardiomyopathy
  • Sick sinus syndrome
  • Bradycardia
  • Congestive heart failure
  • Sudden cardiac death

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NPPA gene

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


FAMILIAL ATRIAL FIBRILLATION


Alternate names

FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant

Description

Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

  • Pain
  • Respiratory distress
  • Arrhythmia
  • Stroke
  • Dilated cardiomyopathy


More info about FAMILIAL ATRIAL FIBRILLATION

SOURCES: OMIM MESH ORPHANET

ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6


Description

Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6

  • Hypertension
  • Cardiomyopathy
  • Stroke
  • Vertigo
  • Tachycardia


More info about ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6

SOURCES: OMIM MESH

ATRIAL STANDSTILL


Alternate names

ATRIAL STANDSTILL Is also known as cardiomyopathy, familial, with conduction disturbance, atrial cardiomyopathy with heart block

Description

Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.

Most common symptoms of ATRIAL STANDSTILL

  • Congestive heart failure
  • Dyspnea
  • Sudden cardiac death
  • Syncope
  • Atrial fibrillation


More info about ATRIAL STANDSTILL

SOURCES: ORPHANET OMIM

ATRIAL STANDSTILL 2; ATRST2


Alternate names

ATRIAL STANDSTILL 2; ATRST2 Is also known as cardiomyopathy, atrial dilated, with atrial standstill, atrial dilation and standstill

Description

Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).

Most common symptoms of ATRIAL STANDSTILL 2; ATRST2

  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Scarring
  • Stroke


More info about ATRIAL STANDSTILL 2; ATRST2

SOURCES: OMIM


Potential gene panels for NPPA gene

Atrial Fibrillation Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atrial Fibrillation Panel that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE2

More info about this panel

NPPA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NPPA 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

Atrial fibrillation, familial 6 (sequence analysis of NPPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NPPA gene.

More info about this panel

Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE5

More info about this panel

Atrial Fibrillation Syndrome via NPPA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NPPA gene.

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

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

Arrhythmia, familial panel Panel

Germany.

By Centogene AG - the Rare Disease Company Arrhythmia, familial panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2 CAV3

More info about this panel

Atrial fibrillation type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NPPA gene.

More info about this panel

Atrial Fibrillation and Short QT Syndrome Panel Panel

Germany.

By CeGaT GmbH Atrial Fibrillation and Short QT Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN4B SCN5A CACNA1C CACNA2D1 CACNB2 SCN3B GJA5 ABCC9

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

Arrhythmia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Arrhythmia that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2

More info about this panel

Auricular Fibrillation Panel Panel

Spain.

By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1

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

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 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

Atrial fibrillation Panel Panel

Spain.

By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1

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

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

Familial Arrhythmia Full Gene Sequencing Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Familial Arrhythmia Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2 CAV3

More info about this panel

Arrhythmia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Arrhythmia NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNA2D1 CACNB2 SLC25A20

More info about this panel

Pan-Cardio NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1

More info about this panel

Atrial Fibrillation NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Atrial Fibrillation NGS Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A HCN4 SCN3B GATA4 GATA6 GJA5

More info about this panel

Sudden Death Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3

More info about this panel

NPPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NPPA gene.

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

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

Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SCN1B SCN2B SCN4B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCNE2 KCNJ2

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


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