KCNQ1 gene related symptoms and diseases

All the information presented here about the KCNQ1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to KCNQ1 gene

Symptoms // Phenotype	% Cases
Syncope	Very Common - Between 80% and 100% cases
Ventricular fibrillation	Common - Between 50% and 80% cases
Sudden cardiac death	Common - Between 50% and 80% cases
Prolonged QT interval	Common - Between 50% and 80% cases
Cardiac arrest	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with KCNQ1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Arrhythmia
Ventricular tachycardia
Ventricular arrhythmia
Bradycardia
Not very common - Between 30% and 50% cases
Torsade de pointes
Seizures
Palpitations
Atrial fibrillation

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KCNQ1 gene

Here you will find a list of rare diseases related to the KCNQ1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SUDDEN INFANT DEATH SYNDROME

Alternate names

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Description

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

Fever
Respiratory distress
Abnormal heart morphology
Pneumonia
Acidosis

More info about SUDDEN INFANT DEATH SYNDROME

SOURCES: OMIM MESH

ROMANO-WARD SYNDROME

Alternate names

ROMANO-WARD SYNDROME Is also known as romano-ward long qt syndrome

Description

Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).

Most common symptoms of ROMANO-WARD SYNDROME

Seizures
Arrhythmia
Sudden cardiac death
Syncope
Bradycardia

More info about ROMANO-WARD SYNDROME

SOURCES: ORPHANET OMIM

LONG QT SYNDROME 1; LQT1

Alternate names

LONG QT SYNDROME 1; LQT1 Is also known as romano-ward syndrome, ventricular fibrillation with prolonged qt interval, rws, wrs, ward-romano syndrome

Description

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).A form of torsade de pointes in which the first beat has a short coupling interval has been described (OMIM ). Genetic Heterogeneity of Long QT SyndromeThere are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (OMIM ) is caused by mutation in the KCNH2 gene (OMIM ), LQT3 (OMIM ) is caused by mutation in the SCN5A gene (OMIM ), LQT4 (see {600919}) is caused by mutation in the ANK2 gene (OMIM ), LQT5 is caused by mutation in the KCNE1 gene (OMIM ), LQT6 (OMIM ) is caused by mutation in the KCNE2 gene (OMIM ), LQT7 (Andersen cardiodysrhythmic periodic paralysis, {170390}) is caused by mutation in the KCNJ2 gene (OMIM ), LQT8 (Timothy syndrome; {601005}) is caused by mutation in the CACNA1C gene (OMIM ), LQT9 (OMIM ) is caused by mutation in the CAV3 gene (OMIM ), LQT10 (OMIM ) is caused by mutation in the SCN4B gene (OMIM ), LQT11 (OMIM ) is caused by mutation in the AKAP9 gene (OMIM ), LQT12 (OMIM ) is caused by mutation in the SNTA1 gene (OMIM ), LQT13 (OMIM ) is caused by mutation in the KCNJ5 gene (OMIM ), LQT14 (OMIM ) is caused by mutation in the CALM1 gene (OMIM ), and LQT15 (OMIM ) is caused by mutation in the CALM2 gene (OMIM ).Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).

Most common symptoms of LONG QT SYNDROME 1; LQT1

Seizures
Hearing impairment
Depressivity
Arrhythmia
Paralysis

More info about LONG QT SYNDROME 1; LQT1

SOURCES: OMIM

JERVELL AND LANGE-NIELSEN SYNDROME

Alternate names

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Description

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

Most common symptoms of JERVELL AND LANGE-NIELSEN SYNDROME

Seizures
Hearing impairment
Diarrhea
Sudden cardiac death
Syncope

More info about JERVELL AND LANGE-NIELSEN SYNDROME

SOURCES: OMIM ORPHANET

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

Alternate names

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 Is also known as prolonged qt interval in ekg and sudden death, deafness, congenital, and functional heart disease, surdo-cardiac syndrome, cardioauditory syndrome of jervell and lange-nielsen

Description

The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).

Most common symptoms of JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

Seizures
Hearing impairment
Sensorineural hearing impairment
Pain
Anemia

More info about JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

SOURCES: OMIM

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, 3; ATFB3

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, 3; ATFB3

Fatigue
Arrhythmia
Stroke
Vertigo
Tachycardia

More info about ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3

SOURCES: MESH OMIM

SHORT QT SYNDROME 2; SQT2

Description

Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015).For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (OMIM ).

Most common symptoms of SHORT QT SYNDROME 2; SQT2

Arrhythmia
Sudden cardiac death
Syncope
Atrial fibrillation
Bradycardia

More info about SHORT QT SYNDROME 2; SQT2

SOURCES: OMIM MESH

FAMILIAL SHORT QT SYNDROME

Alternate names

FAMILIAL SHORT QT SYNDROME Is also known as sqts

Description

Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.

Most common symptoms of FAMILIAL SHORT QT SYNDROME

Sudden cardiac death
Syncope
Atrial fibrillation
Palpitations
Bradycardia

More info about FAMILIAL SHORT QT SYNDROME

SOURCES: ORPHANET MESH OMIM

Search interest in KCNQ1

Potential gene panels for KCNQ1 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

KCNQ1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KCNQ1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to KCNQ1 gene

SUDDEN INFANT DEATH SYNDROME

Alternate names

Description

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

ROMANO-WARD SYNDROME

Alternate names

Description

Most common symptoms of ROMANO-WARD SYNDROME

LONG QT SYNDROME 1; LQT1

Alternate names

Description

Most common symptoms of LONG QT SYNDROME 1; LQT1

JERVELL AND LANGE-NIELSEN SYNDROME

Alternate names

Description

Most common symptoms of JERVELL AND LANGE-NIELSEN SYNDROME

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

Alternate names

Description

Most common symptoms of JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

FAMILIAL ATRIAL FIBRILLATION

Alternate names

Description

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3

Description

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3

SHORT QT SYNDROME 2; SQT2

Description

Most common symptoms of SHORT QT SYNDROME 2; SQT2

FAMILIAL SHORT QT SYNDROME

Alternate names

Description

Most common symptoms of FAMILIAL SHORT QT SYNDROME

Search interest in KCNQ1

Potential gene panels for KCNQ1 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

NGS Hearing Loss Panel Panel

Comprehensive Cardiac Panel Panel

Long QT Syndrome Panel Panel

OtoSCOPE Panel

Cardiomyopathy Panel Panel

Hearing Loss Panel Panel

Comprehensive Arrhythmias Panel Panel

Long QT Syndrome and Short QT Syndrome Panel

Long QT Syndrome Panel Panel

Atrial Fibrillation Panel Panel

Cardiac Channelopathy Panel Panel

Short QT Syndrome Panel Panel

Beckwith-Wiedemann Syndrome Panel

LQTS panel Panel

Cardiac Arrhythmia Gene Panel Panel

KCNQ1 Panel

KCNQ1 Panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

Comprehensive Arrhythmia Panel Panel

Long QT Syndrome Gene Sequencing & Del/Dup Panel Panel

Long QT Syndrome Sequencing Panel Panel

Long QT Syndrome Del/Dup Panel Panel

Short QT Syndrome Sequencing Panel Panel

CardioNext with TTN Panel

CustomNext: Cardio Panel

RhythmNext Panel

RhythmFirst Panel

RhythmFirst reflex RhythmNext Panel

KCNQ1 mutation analysis Panel

LQT Multi-Gene Package Panel

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

KCNH2, KCNJ2, KCNQ1. NextGeneDx.Complete sequencing by NGS Panel

CAV3, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS Panel

KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS Panel

KCNQ1. Complete sequencing Panel

Audiome (hearing loss panel) Panel