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Gene: Scn10a MGI:108029

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type X, alpha
Synonyms:
Nav1.8

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Scn10a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Scn10a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Episodic Pain Syndrome, Familial, 2
Dysesthesia OMIM:615551
Primary Erythromelalgia
Vasculitis ORPHA:90026
Paroxysmal Extreme Pain Disorder
ORPHA:46348

The table below shows human diseases predicted to be associated to Scn10a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Apnea OMIM:607745
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Benign Familial Neonatal-Infantile Seizures
Episodic ataxia, Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea ORPHA:140927
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Apnea OMIM:601764
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Ravine Syndrome
Ataxia, Apnea, Abnormal auditory evoked potentials ORPHA:99852
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Apnea, Multifocal epileptiform discharges, Respiratory insufficiency ORPHA:209370
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... ORPHA:1344
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Bradycardia, Dystonia, Hypertrophic cardiomyopathy OMIM:616277
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia ORPHA:1055
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Chorea, Choreoathetosis, EEG abnormality, Dystonia ORPHA:71277
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Chorea, Multifocal epileptiform discharges, Hypsarrhythmia, ... ORPHA:79097
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with secondary generalization ORPHA:1949
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia, Dystonia, Hypsarrhythmia OMIM:618397
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... ORPHA:3282
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia... OMIM:608800
Rett Syndrome
Dystonia, Apnea, Intermittent hyperventilation, Gait ataxia, EEG abnormality, Truncal ataxia, Abn... OMIM:312750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Leukodystrophy, Hypomyelinating, 4
Head titubation, Apnea, Choreoathetosis OMIM:612233
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Apnea, Respiratory insufficiency OMIM:617290
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Benign Familial Infantile Epilepsy
Normal interictal EEG, Apnea, Interictal epileptiform activity ORPHA:306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Bradycardia, Opisthotonus OMIM:619814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Apnea, Bradycardia OMIM:619048
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, EEG with burst suppressi... OMIM:261740
Joubert Syndrome 33
Apnea, Ataxia OMIM:617767
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Apnea OMIM:617235
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Tremor, Gait ataxia, Pill-rol... ORPHA:3095
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Hyperekplexia 3
Respiratory arrest, Exaggerated startle response, Syncope, Apnea OMIM:614618
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea OMIM:615228
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Phosphoserine Aminotransferase Deficiency
Apnea OMIM:610992
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Nathalie Syndrome
Abnormal EKG OMIM:255990
Congenital Heart Block
First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure, Atriovent... ORPHA:60041
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Apnea, Bradycardia OMIM:614498
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Ataxia, Apnea, Respiratory insufficiency OMIM:610127
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Dysmetria, Gait ataxia ORPHA:320385
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Ataxia, Apnea, Respiratory insufficiency OMIM:618228
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Mitochondrial Complex I Deficiency, Nuclear Type 10
Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure OMIM:618233
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Apnea, Hypsarrhythmia, Cardiomyopathy, Inspiratory stridor OMIM:600721
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Apnea OMIM:618236
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Dysmetria, Gait ataxia OMIM:615031
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Episodic Pain Syndrome, Familial, 2
Dysesthesia OMIM:615551
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dystonia OMIM:304700
Coronary Arterial Fistula
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... ORPHA:2041
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Apneic episodes in infancy, Hypsarrhythmia OMIM:301058
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Apnea, Ataxia, Tremor, Choreoathetosis, Dystonia, EEG with generalized slow activity OMIM:300055
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ataxia OMIM:618225
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Impaired propriocep... OMIM:229300
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Kcnq2-Related Epileptic Encephalopathy
EEG with burst suppression, Dystonia, Apnea, Hypsarrhythmia ORPHA:439218
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insufficiency OMIM:620265
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Apnea, Respiratory insufficiency, Dystonia OMIM:618226
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Apnea, Opisthotonus OMIM:616896
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... OMIM:312170
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Huntington Disease-Like 1
Chorea, Dysmetria, Gait ataxia, EEG abnormality, Abnormal posturing ORPHA:157941
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Apnea, Truncal titubation, Tremor, Dysmetria, Gait ataxia OMIM:618056
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia... ORPHA:1177
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Oroma... OMIM:128100
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato... OMIM:608643
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency OMIM:616276
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, Cardiac arrest, Dy... OMIM:620167
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Hyperekplexia 1
Aspiration, Exaggerated startle response, Apnea OMIM:149400
Developmental And Epileptic Encephalopathy 99
Central apnea, Multifocal epileptiform discharges OMIM:619606
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Opisthotonus, Aspiration pneumonia, Cough, Abnormal posturing ORPHA:216866
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Bradycardia OMIM:610015
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Tachycardia, Apnea, Hyperventilation OMIM:229700
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... OMIM:615745
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Apnea, Respiratory insufficiency, Hypsarrhythmia OMIM:608093
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Cardiac conduction abnormality, Tremor, Chorea, Abnormal T-w... ORPHA:2131
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Resting tremor, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochoki... OMIM:615157
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Respiratory insufficiency, Dystonia OMIM:614654
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Craniofacial dystonia OMIM:618253
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Tetanus
Respiratory distress, Tachycardia, Tremor, Tachypnea, Opisthotonus, Hypertension, Bradycardia ORPHA:3299
Pontocerebellar Hypoplasia Type 2
Choreoathetosis, Paroxysmal dystonia, Apnea ORPHA:2524
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn... ORPHA:314655
Pontocerebellar Hypoplasia, Type 6
Apnea OMIM:611523
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Muscular Dystrophy, Duchenne Type
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia OMIM:616299
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
48,Xxyy Syndrome
Tremor, Asthma, Apnea, Ataxia ORPHA:10
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Apnea, Hyperventilation OMIM:617903
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Dyspnea, Congestive h... ORPHA:75566
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regitine blocking t... ORPHA:94080
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Dystonia OMIM:606054
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Truncal ataxia, Bradycardia, Dystonia, Intention tremor OMIM:614407
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
EEG abnormality, Apnea OMIM:261680
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Cardiac arrest, Ataxia, Tachypnea, Dilated cardiomyopathy, Hypsarrhythmia, EEG abnormality... ORPHA:20
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Hypertrophic cardiomyopathy, Brady... ORPHA:330001
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat... OMIM:212138
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Dystonia OMIM:618222
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Chorea, Gait ataxia, Titubation, Dystonia, Abnormal posturing ORPHA:225147
Timothy Syndrome
Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Bradycardia, P... OMIM:601005
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Hermansky-Pudlak Syndrome 10
EEG abnormality, Apnea, Dystonia OMIM:617050
Joubert Syndrome
Apnea, Episodic tachypnea, Ataxia, Tremor, Abnormal pattern of respiration ORPHA:475
Infantile Neuroaxonal Dystrophy
Ataxia, Apneic episodes in infancy, Aspiration pneumonia, Dystonia, Abnormality of peripheral ner... ORPHA:35069
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Pleural effusion, Bradycardia, Dystonia OMIM:614702
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Coach Syndrome 2
Hypertension, Apneic episodes in infancy OMIM:619111
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Stridor, Hypertension, Bra... OMIM:614653
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Dystonia OMIM:314580
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Fatal Familial Insomnia
Apnea, Ataxia OMIM:600072
Necrotizing Enterocolitis
Shock, Apnea, Bradycardia, Hypotension ORPHA:391673
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Cln3 Disease
T-wave inversion, Ataxia, Bradycardia ORPHA:228346
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:614462
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
D-Glyceric Aciduria
Neonatal respiratory distress, Opisthotonus, Bradycardia, Hypsarrhythmia OMIM:220120
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Respiratory insufficiency, Hypsarrhythmia, Dystonia ORPHA:521426
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Apnea, Respiratory insufficiency OMIM:618886
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H... OMIM:209880
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Ataxia, Cardiac conduction abnormality, Dyspnea, Chorea, Episodic respiratory distress, Di... ORPHA:255210
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Leg dystonia, Hypsarrhythmia, EEG abnormality, Bradycardia ORPHA:565624
Joubert Syndrome With Renal Defect
Tremor, Apnea, Abnormal pattern of respiration, Ataxia ORPHA:220497
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Sudden episodic apnea, Ataxia, Intermittent episodes of respir... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Sudden episodic apnea, Ataxia, Intermittent episodes of respir... ORPHA:98914
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Positive Romberg sign, Lim... ORPHA:94125
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... OMIM:232300
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Opisthotonus OMIM:210200
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Rhizomelic Chondrodysplasia Punctata, Type 5
Asthma, Sinus tachycardia OMIM:616716
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopathy, Hypote... ORPHA:159
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Orofaciodigital Syndrome Xvi
Apnea, Ataxia OMIM:617563
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia OMIM:610768
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Opisthotonus OMIM:619272
Pediatric-Onset Graves Disease
Atrial fibrillation, Tremor, Neonatal asphyxia, Congestive heart failure, Hypertension, Palpitati... ORPHA:525731
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Ataxia, Opisthotonus, Choreoathetosis, Gait ataxia OMIM:619580
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Ataxia, Chorea, EEG with focal sharp waves, Choreoathetosis, EEG abnormality, EEG ... ORPHA:522077
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia, Sensory ataxia OMIM:609286
Joubert Syndrome With Ocular Defect
Tremor, Apnea, Abnormal pattern of respiration, Ataxia ORPHA:220493
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Respiratory insufficiency, Respirat... OMIM:608836
Mogs-Cdg
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Dystonia ORPHA:79330
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Ataxia ORPHA:2318
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Exaggerated startle response OMIM:617301
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Pontocerebellar Hypoplasia, Type 7
Choreoathetosis, Apnea, Ataxia, Opisthotonus OMIM:614969
Cap Myopathy
Reduced systolic function, Central hypoventilation, Sinus tachycardia ORPHA:171881
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... OMIM:618291
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials, Apnea, Epistaxis ORPHA:268943
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Hypopnea, Respiratory failure, Bradycardia, Dystonia, Respiratory arrest OMIM:617248
Tenorio Syndrome
Raynaud phenomenon, Recurrent pneumonia, Apnea, Syncope OMIM:616260
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outflow tract o... ORPHA:860
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Hypophosphatasia, Infantile
Intracranial hemorrhage, Apnea OMIM:241500
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Biotinidase Deficiency
Tachypnea, Apnea, Ataxia OMIM:253260
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Dystonia, Sudden episodic apnea, Intention tremor ORPHA:466722
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regitine blocking t... ORPHA:276621
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... OMIM:617397
Absence Of The Pulmonary Artery
Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Nonproductive... ORPHA:980
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Dyspnea, Nonproductive cough, Jaw claudication, Reduce... ORPHA:85443
Joubert Syndrome With Hepatic Defect
Ataxia, Apnea, Portal hypertension, Tremor, Abnormal pattern of respiration ORPHA:1454
Trigeminal Neuralgia
Allodynia ORPHA:221091
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Congestive heart failure, Paresthesia, Cough, Hypertrophic cardiomyopathy ORPHA:579
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Biotinidase Deficiency
Respiratory distress, Apnea, Ataxia, Hyperventilation ORPHA:79241
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... OMIM:616482
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Respiratory insufficiency OMIM:617527
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea OMIM:618426
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Cocaine Intoxication
Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar... ORPHA:90068
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave ORPHA:231625
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Opisthotonus OMIM:608013
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Chronic Bilirubin Encephalopathy
Central apnea, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Abnormal auditory evoked potentials ORPHA:529799
Orofaciodigital Syndrome Type 6
Tremor, Apnea, Episodic tachypnea, Ataxia ORPHA:2754
Sepsis In Premature Infants
Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system ... ORPHA:90051
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapni... ORPHA:466650
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro... OMIM:601992
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Rhinitis, Orthostatic syncope, Syncope ORPHA:230
Gaucher Disease, Type Ii
Stridor, Apnea, Recurrent aspiration pneumonia, Cough OMIM:230900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea OMIM:214110
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Resting tremor, Crackles, Nonproductive cough, Myocarditis, Subconju... ORPHA:319213
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Hyperventilation OMIM:618775
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Tachypne... ORPHA:26793
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Dystonia, Arrhythmia ORPHA:480864
Encephalitis Lethargica
Tremor, Bradycardia, Hyperventilation ORPHA:83600
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regitine blocking t... ORPHA:29072
Autoimmune Hypoparathyroidism
Prolonged QT interval, Dyspnea, Abnormal left ventricular function, Paresthesia, Laryngeal dyston... ORPHA:36913
Congenital Sialidosis Type 2
Abnormal EKG, Ataxia, Dysmetria, Telangiectasia ORPHA:93400
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Ataxia ORPHA:395
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Respiratory failure, Chronic sinusitis OMIM:615636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Respiratory insufficiency OMIM:620351
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy ORPHA:17
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Impaired pain sensation OMIM:601559
Marshall-Smith Syndrome
Apnea, Premature ventricular contraction, Stridor, Hypertension, Aspiration pneumonia, Pulmonary ... OMIM:602535
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Recurrent pneumonia, Bradycardia OMIM:613327
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Glossopharyngeal Neuralgia
Dysesthesia, Syncope, Jaw claudication, Bradycardia ORPHA:221098
Ogden Syndrome
Torticollis, Apnea, Ventricular tachycardia, Premature ventricular contraction, Pulmonary arteria... OMIM:300855
Neuroleptic Malignant Syndrome
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Chorea, Hypertension, Bradycardia, Hy... ORPHA:94093
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Ataxia, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory fai... OMIM:252010
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Ataxia, Hyperventilation OMIM:617799
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Scorpion Envenomation
Bundle branch block, Tachycardia, Ataxia, Cardiac conduction abnormality, Tremor, Congestive hear... ORPHA:466677
Glass Syndrome
Apnea OMIM:612313
Slc39A8-Cdg
Dystonia, Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
Joubert Syndrome 1
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Nestor-Guillermo Progeria Syndrome
Dyspnea, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypert... OMIM:614008
Schwartz-Jampel Syndrome
Apnea, Respiratory insufficiency, Blepharospasm, Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Chorea, Reduced left ventricular ejection fraction ORPHA:268
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Genitopatellar Syndrome
Apnea ORPHA:85201
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Restrictive ventilatory defect, Cardiomyopathy, Mitral regurg... OMIM:253200
Bohring-Opitz Syndrome
Apnea, Bradycardia ORPHA:97297
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Apnea ORPHA:2462
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Ataxia, Respiratory insufficiency, Cardiomyopathy ORPHA:3463
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... ORPHA:31826
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Tremor, Shortened PR interval, Impaired myocardial contractility, Second d... ORPHA:79102
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Vici Syndrome
Cardiomyopathy, Abnormal posturing, Dilated cardiomyopathy, Congestive heart failure OMIM:242840
Benign Schwannoma
Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Respira... ORPHA:221
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea ORPHA:1052
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea OMIM:300373
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia ORPHA:3206
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Arrhythmia, Apnea, Paresthesia ORPHA:285
Autosomal Recessive Malignant Osteopetrosis
Tremor, Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Sy... ORPHA:358
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... OMIM:114290
Tarp Syndrome
Apnea ORPHA:2886
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Impaired temperature sensation ORPHA:98754
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Impaired temperature sensation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Impaired temperature sensation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Impaired temperature sensation ORPHA:177901
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Exaggerated startle response, Dystonia, Apnea, Breathing dysregulation, Pulmonic... ORPHA:438213
Semilobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Limb dystonia, Abnormal pat... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Limb dystonia, Abnormal pat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Limb dystonia, Abnormal pat... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Limb dystonia, Abnormal pat... ORPHA:93924
Pancreatic And Cerebellar Agenesis
Apnea OMIM:609069
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Portal hypertension, Asthma, EEG abnormality, Ischemic stro... OMIM:619503
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Dysesthesia, Nonproductive cough, Hypovolemia, Capillary leak, ... ORPHA:99826
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... ORPHA:79404
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
African Trypanosomiasis
Abnormal EKG, Pericarditis, Somatic sensory dysfunction, Tremor, Myocarditis, Congestive heart fa... ORPHA:3385
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Bradycardia OMIM:218700
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary insufficiency, Bradycardia OMIM:614437
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS complex, L... ORPHA:273
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex OMIM:611174
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Dystonia OMIM:241080
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Dystonia ORPHA:3464
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Aortic valve stenosis, Apneic episodes in infancy, Hyperventilation OMIM:601803
Primary Erythromelalgia
Vasculitis ORPHA:90026
Paroxysmal Extreme Pain Disorder
ORPHA:46348

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scn10a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scn10a.

No publications found that use IMPC mice or data for Scn10a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Scn10atm297873(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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