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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... 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
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Writer's cramp, Ar... OMIM:619565
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Dystonia, Respiratory insufficiency OMIM:618222
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Ravine Syndrome
Abnormal auditory evoked potentials, Apnea, Ataxia ORPHA:99852
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG OMIM:607745
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG OMIM:601764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Dystonia OMIM:616277
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Joubert Syndrome 33
Apnea, Ataxia OMIM:617767
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Leukodystrophy, Hypomyelinating, 4
Apnea, Choreoathetosis OMIM:612233
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia, Impaired pain sensation, Rhinorrhea OMIM:167400
Hyperekplexia 3
Apnea, Exaggerated startle response OMIM:614618
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Hypertrophic cardiomyopathy OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Respiratory failure, Bradycardia, Apnea, Tremor OMIM:617248
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Abnormal ST segment, Congestive heart failure, Apnea ORPHA:1055
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Classic Glucose Transporter Type 1 Deficiency Syndrome
EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Chorea, Central apnea ORPHA:71277
Folinic Acid-Responsive Seizures
EEG with generalized slow activity, Dystonia, Ataxia, Multifocal epileptiform discharges, Chorea,... ORPHA:79097
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Rett Syndrome
Apnea, Abnormal T-wave, EEG abnormality, Dystonia, Gait ataxia, Truncal ataxia, Intermittent hype... OMIM:312750
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation, Snoring OMIM:261990
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Central apnea OMIM:611722
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, EEG abnormality, Respiratory insufficiency, Central hypoventilation OMIM:300673
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Respiratory failure, Atelectasis, B... ORPHA:70587
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Abnormal pattern of respiration, Stridor, Bronchospasm, Cardiorespiratory arrest, Bradycardia, Apnea OMIM:608800
Nathalie Syndrome
Abnormal EKG OMIM:255990
Benign Familial Neonatal Epilepsy
Apnea, Increased theta frequency activity in EEG, Focal EEG discharges with secondary generalization ORPHA:1949
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Respira... OMIM:601419
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, EEG abnormality, Hypertrophic cardiomyopathy OMIM:618815
Friedreich Ataxia
Impaired proprioception, Impaired vibratory sensation, Congestive heart failure, Decreased amplit... OMIM:229300
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysmetria, Respiratory failure, Ataxia, Apnea, Central hypoventilation OMIM:618233
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ataxia OMIM:618225
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Torticollis, Writer's cramp, Abnormal posturing, Tremor OMIM:128100
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distre... ORPHA:168486
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Sinus bradycardia, Restrictive ventilatory defect, Hypoventilation, Aspiration pneumonia, ... OMIM:619482
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:616276
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Apnea, Congestive heart failure OMIM:619048
Episodic Pain Syndrome, Familial, 2
Dysesthesia OMIM:615551
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Benign Familial Infantile Epilepsy
Apnea, Interictal epileptiform activity, Normal interictal EEG ORPHA:306
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing, Tremor OMIM:304700
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Respiratory insufficiency, Dystonia OMIM:614654
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, H... ORPHA:542306
Atypical Rett Syndrome
EEG abnormality, Dystonia, Pill-rolling tremor, Impaired pain sensation, Episodic tachypnea, Abno... ORPHA:3095
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Ataxia, Respiratory insufficiency OMIM:618226
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Elevated jugular venous pressure... ORPHA:1329
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Ataxia, Respiratory insufficiency OMIM:610127
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia OMIM:616299
Huntington Disease-Like 1
Dysmetria, EEG abnormality, Gait ataxia, Chorea, Abnormal posturing ORPHA:157941
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Respiratory failure, ... OMIM:310200
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Interictal EEG abnormality, Tachycardia, Apnea, Aspiration pneumonia ORPHA:79264
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Right bundle branch block, Atrial fibrillation... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:614462
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal EKG, Somatic sensory dysfunction, Progressive gait ataxia ORPHA:1177
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea, Hypertrophic cardiomyopathy OMIM:618236
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Apnea OMIM:614498
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dyspnea, Absent P wave,... OMIM:615745
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Dysmetria, Central apnea ORPHA:320385
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Apneic episodes precipitated by illness, fatigue, stress, Dystonia, Choreoathetosis OMIM:312170
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Intellectual Developmental Disorder, X-Linked, Syndromic 13
EEG with generalized slow activity, Dystonia, Choreoathetosis, Resting tremor, Ataxia, Apnea, Tremor OMIM:300055
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Gait ataxia, Apnea, Truncal titubation, Tremor OMIM:618056
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Apnea, Hypertrophic cardiomyopathy, Dystonia ORPHA:255241
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Dysmetria, Central apnea OMIM:615031
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Generalized dystonia, Cough, Aspiration pneumonia, Abnormal posturing ORPHA:216866
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Kcnq2-Related Epileptic Encephalopathy
Apnea, Dystonia, Hypsarrhythmia, EEG with burst suppression ORPHA:439218
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea, Opisthotonus OMIM:616896
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Ataxia, Central apnea OMIM:611560
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... ORPHA:75566
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Tetanus
Opisthotonus, Tachypnea, Hypertension, Respiratory distress, Bradycardia, Tachycardia, Tremor ORPHA:3299
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, Hypsarrhythmia, EEG with burst suppression OMIM:301058
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Myoclonus, Intractable, Neonatal
Apnea, Athetosis, Chorea OMIM:617235
Illum Syndrome
Bradycardia, Apnea OMIM:208155
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Prolonged QT interval, Atrioventricular block, Abnormal elect... ORPHA:398124
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Pontocerebellar Hypoplasia, Type 6
Apnea OMIM:611523
Hyperekplexia 1
Apnea, Aspiration, Exaggerated startle response OMIM:149400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Abnormal posturing OMIM:614857
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Hypotension, Athetosis, Limb dystonia, Cardior... OMIM:608643
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Intention tremor, Atrioventricular block, Bradycardia, Truncal ataxia OMIM:614407
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Nemaline Myopathy 2
Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Glutamine Deficiency, Congenital
Bradycardia, Apnea, Neonatal respiratory distress OMIM:610015
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Tachycardia, Hyperventilation, Dyspnea OMIM:229700
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
D-2-Hydroxyglutaric Aciduria 1
Apnea, Cardiomyopathy, Aortic regurgitation, Inspiratory stridor OMIM:600721
Developmental And Epileptic Encephalopathy 99
Multifocal epileptiform discharges, Central apnea OMIM:619606
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Primary Pulmonary Hypoplasia
Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Tachypnea, Pneumothorax... ORPHA:2257
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Dystonia, Congestive heart failure, Hypertrophic cardiomyopathy, Respirat... ORPHA:70474
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation, Dystonia OMIM:617903
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respiratory failu... OMIM:610921
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Resting tremor, Gait ataxia, Chorea, Titubation, Abnormal posturing ORPHA:225147
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, EEG abnormality, Respiratory distress, Hypoventilation, Aspiration pn... ORPHA:314655
Timothy Syndrome
Bradycardia, Prolonged QT interval, Pneumonia OMIM:601005
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Tachypnea, Dyspnea, Pulmonary arterial hypertension, Neonatal respiratory di... OMIM:265120
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea OMIM:608629
Rhizomelic Chondrodysplasia Punctata, Type 5
Asthma, Sinus tachycardia OMIM:616716
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Dysmetria, Impaired vibratory sensation, Ataxia, Limb dysmetria, Positive R... ORPHA:94125
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Apnea, Respiratory insufficiency OMIM:614653
48,Xxyy Syndrome
Asthma, Apnea, Ataxia, Tremor ORPHA:10
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, EEG abnormality OMIM:261680
Al Amyloidosis
Increased circulating troponin I concentration, Nonproductive cough, Gastrointestinal hemorrhage,... ORPHA:85443
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Leg dystonia, Decreased nerve conduction velocity, Bradycardia, Hypsarrhythmia ORPHA:565624
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Atrial fibrillation, Hypertension, Neonatal asphyxia... ORPHA:525731
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Sensory ataxia, Arrhythmia OMIM:609286
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Hermansky-Pudlak Syndrome 10
Apnea, EEG abnormality, Dystonia OMIM:617050
Congenital Myasthenic Syndrome
Ataxia, Central sleep apnea, Episodic respiratory distress, Obstructive sleep apnea, Stridor, EEG... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Central sleep apnea, Episodic respiratory distress, Obstructive sleep apnea, Stridor, EEG... ORPHA:98914
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, EEG abnormality, Cardiac arrest, Tachypnea, Hypotension, Ataxia, Apnea, H... ORPHA:20
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Opisthotonus, Bradycardia, Respiratory distress OMIM:619272
Pontocerebellar Hypoplasia Type 2
Apnea, Choreoathetosis, Paroxysmal dystonia ORPHA:2524
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dystonia, Choreoathetosis, Arrhythmia, Aspiration, Ataxia, Cardiac conduction ab... ORPHA:2131
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Congestive heart failure, Abnormality of blood circulation, Tachypnea, Heart murmur, L... ORPHA:860
Propionic Acidemia
Dystonia, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Apnea OMIM:606054
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Tremor OMIM:608093
Congenital Tracheomalacia
Emphysema, Decreased peak expiratory flow, Tracheomalacia, Pneumonia, Tracheobronchomalacia, Coug... ORPHA:95430
Joubert Syndrome
Episodic tachypnea, Abnormal pattern of respiration, Ataxia, Apnea, Tremor ORPHA:475
Cap Myopathy
Reduced systolic function, Sinus tachycardia, Central hypoventilation ORPHA:171881
Friedreich Ataxia 2
Impaired vibratory sensation, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, At... OMIM:601992
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Absence Of The Pulmonary Artery
Nonproductive cough, Recurrent pneumonia, Atrial flutter, Reduced ejection fraction, Systolic hea... ORPHA:980
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Congestive heart fai... ORPHA:70591
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation, Stridor OMIM:617143
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Dystonia, Ataxia, Aspiration pneumonia, Abnormality of peripheral ner... ORPHA:35069
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Respiratory distress ORPHA:226313
Friedreich Ataxia And Congenital Glaucoma
Impaired vibratory sensation, Congestive heart failure, Decreased amplitude of sensory action pot... OMIM:229310
Fatal Familial Insomnia
Apnea, Ataxia OMIM:600072
Coach Syndrome 2
Hypertension, Apneic episodes in infancy OMIM:619111
Necrotizing Enterocolitis
Bradycardia, Apnea, Shock, Hypotension ORPHA:391673
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Dystonia, Hypertrophic cardiomyopathy, Ataxia, Dyspnea, Gait ataxia, Epis... ORPHA:255210
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:276621
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Dystonia OMIM:314580
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Decreased heart rate variability, Hypoxemia, Nocturnal hypoventilation, Hypercapnia, Hypov... OMIM:209880
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Tachypnea, Hypotension, Myocardial infarction, Tremor, ... ORPHA:90068
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Opisthotonus OMIM:210200
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Impaired proprioception, Impaired vibratory sensation, Congestive heart failure, Abnormal echocar... OMIM:302900
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Dyspnea, Respiratory distress, Tachycardia, Inter... ORPHA:348
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Apneic episodes in infancy ORPHA:163961
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG abnormality, Dystonia, Choreoathetosis, EEG with series of focal spikes, Sleep apnea, EEG wit... ORPHA:522077
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Apnea, Hypertension, Respiratory insufficiency OMIM:618886
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration, Ataxia, Tremor ORPHA:220497
Unilateral Polymicrogyria
Apnea, Abnormal posturing, Giant somatosensory evoked potentials, Epistaxis ORPHA:268943
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Paresthesia, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Neonatal respiratory distress, Respiratory failure, Respiratory i... ORPHA:70
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Sleep apnea, Central apnea, Congestive heart failure OMIM:616482
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Respiratory insufficiency, Exaggerated startle response, Apnea, Hypsarrhythmia ORPHA:521426
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Arrhythmia, Hypotension, Cardiomyopathy, Sudden episodic apnea, Respirat... ORPHA:159
Orofaciodigital Syndrome Xvi
Apnea, Ataxia OMIM:617563
Myofibrillar Myopathy 10
Increased QRS voltage, Increased circulating troponin I concentration, Prolonged QTc interval OMIM:619040
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Joubert Syndrome With Oculorenal Defect
Apnea, Tachypnea, Ataxia ORPHA:2318
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Crackles, Tachypnea, Hypotension, At... ORPHA:466650
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Choreoathetosis, Ataxia, Gait ataxia, Apnea OMIM:619580
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration, Ataxia, Tremor ORPHA:220493
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Arrhythmia, Respiratory failure, Respiratory insufficiency, Antenatal int... OMIM:608836
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Dyspnea, Paresthesia, Ventricular arrhythmia, Laryngeal dysto... ORPHA:36913
Pseudo-Torch Syndrome 2
Bradycardia, Pleural effusion, Acute respiratory distress syndrome, Cerebral hemorrhage, Respirat... OMIM:617397
Mogs-Cdg
Hypoventilation, Dystonia, Respiratory distress, Apnea, Absent brainstem auditory responses ORPHA:79330
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Abnormal EKG, Dyspnea, Orthostatic syncope, Rhinitis, Syncope ORPHA:230
Scorpion Envenomation
Increased circulating troponin I concentration, Premature ventricular contraction, Arrhythmia, Co... ORPHA:466677
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Opisthotonus, Pneumonia, Ataxia, Inspiratory stridor, Apnea ORPHA:1136
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Nonproductive cough, Resting tremor, Crackles, Hypotension, Myocardit... ORPHA:319213
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Arrhythmia,... ORPHA:26793
Sepsis In Premature Infants
Abnormal respiratory system physiology, Hypotension, Dyspnea, Abnormal mucociliary clearance, Bra... ORPHA:90051
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Abnormal EKG, Ataxia, Prolonged QT interval ORPHA:480864
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure, Exaggerated startle response OMIM:617301
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy, Hyperventilation OMIM:618775
Congenital Sialidosis Type 2
Telangiectasia, Dysmetria, Abnormal EKG, Ataxia ORPHA:93400
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Hypophosphatasia, Infantile
Apnea, Intracranial hemorrhage OMIM:241500
Encephalitis Lethargica
Bradycardia, Hyperventilation, Tremor ORPHA:83600
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea OMIM:608809
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:29072
Pseudohypoparathyroidism Type 2
Paresthesia, Laryngeal dystonia, Prolonged QT interval ORPHA:94090
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Chorea ORPHA:268
Benign Schwannoma
Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Trigeminal Neuralgia
Allodynia ORPHA:221091
Tenorio Syndrome
Syncope, Raynaud phenomenon, Pneumonia, Apnea OMIM:616260
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Biotinidase Deficiency
Apnea, Tachypnea, Ataxia OMIM:253260
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Neuroleptic Malignant Syndrome
Arrhythmia, Oculogyric crisis, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension... ORPHA:94093
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Dysesthesia, Jaw claudication ORPHA:221098
Mucopolysaccharidosis Type 1
Sinusitis, Congestive heart failure, Hypertrophic cardiomyopathy, Cough, Paresthesia, Apnea ORPHA:579
Bilateral Perisylvian Polymicrogyria
Dysmetria, Aspiration, EEG with parietal focal spikes, EEG with polyspike wave complexes, EEG wit... ORPHA:98889
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Impaired pain sensation, Apnea, Respiratory insufficiency OMIM:601559
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Dystonia, Paroxysmal dystonia, Intention tremor ORPHA:466722
Joubert Syndrome With Hepatic Defect
Portal hypertension, Abnormal pattern of respiration, Ataxia, Apnea, Tremor ORPHA:1454
Biotinidase Deficiency
Apnea, Hyperventilation, Ataxia, Respiratory distress ORPHA:79241
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Abnormal posturing, Congestive heart failure OMIM:242840
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea OMIM:615636
Ethylene Glycol Poisoning
Congestive heart failure, Tachypnea, Hypotension, Ataxia, Abnormal pattern of respiration, Episod... ORPHA:31826
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Right bundle branch block, Dyspnea, Pulmonary arterial hypertension, Hypertens... OMIM:614008
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea OMIM:602613
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Central apnea ORPHA:529799
Gaucher Disease, Perinatal Lethal
Apnea, Opisthotonus, Respiratory distress OMIM:608013
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea OMIM:214110
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency, Exaggerated startle response OMIM:617527
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Ataxia, Tremor ORPHA:2754
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Marshall-Smith Syndrome
Airway obstruction, Premature ventricular contraction, Pulmonary arterial hypertension, Obstructi... OMIM:602535
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave OMIM:170390
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Ataxia ORPHA:395
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Palpitations, Paresthesia, Prol... ORPHA:358
Dermatomyositis
Sinus tachycardia, Arrhythmia, Myocarditis, Myocardial infarction, Telangiectasia of the skin, Pu... ORPHA:221
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Shortened PR interval, Hypertrophic cardiomyo... ORPHA:308552
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea OMIM:608091
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Pseudohypoparathyroidism Type 1B
Paresthesia, Laryngeal dystonia, Prolonged QT interval, Dyspnea ORPHA:94089
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia ORPHA:397715
Joubert Syndrome 5
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea OMIM:610188
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Hypertrophic cardiomyopathy, Ataxia, Respiratory insufficiency, Concentric h... OMIM:252010
Slc39A8-Cdg
Dystonia, Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Brachytelephalangic Chondrodysplasia Punctata
Respiratory failure requiring assisted ventilation, Asthma, Tachypnea, Central apnea, Neonatal re... ORPHA:79345
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Choreoathetosis, Hypertrophic cardiomyopathy, Respiratory distress, Apnea ORPHA:17
Bohring-Opitz Syndrome
Bradycardia, Apnea, Obstructive sleep apnea ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Schwartz-Jampel Syndrome
Arrhythmia, Blepharospasm, Respiratory insufficiency, Pulmonary arterial hypertension, Apnea ORPHA:800
Joubert Syndrome 1
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea OMIM:213300
Pancreatic And Cerebellar Agenesis
Apnea OMIM:609069
Genitopatellar Syndrome
Apnea ORPHA:85201
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Cardiomyopathy, Central apnea, Respiratory insufficiency ORPHA:3463
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Apnea ORPHA:2462
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Action tremor, Dystonia, Ataxia, Prolonged QT interval ORPHA:66634
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Nonproductive cough, Hypotension, Capillary leak, Dysest... ORPHA:99826
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
African Trypanosomiasis
Second degree atrioventricular block, Somatic sensory dysfunction, Impaired proprioception, Arrhy... ORPHA:3385
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Pneumonia, Respiratory failure, Dyspnea, Stridor, Pneumothorax, Respirato... ORPHA:79404
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Dystonia, Central sleep apnea, Pulmonic stenosis, Obstructive sleep apnea, Breat... ORPHA:438213
Gitelman Syndrome
Ventricular tachycardia, Hypotension, Ataxia, Paresthesia, Prolonged QT interval, Palpitations OMIM:263800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Obstructive sleep apnea, Central apnea, Impaired temperature sensation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obstructive sleep apnea, Central apnea, Impaired temperature sensation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obstructive sleep apnea, Central apnea, Impaired temperature sensation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obstructive sleep apnea, Central apnea, Impaired temperature sensation ORPHA:177901
Stüve-Wiedemann Syndrome
Asthma, Impaired pain sensation, Paresthesia, Respiratory distress, Apnea ORPHA:3206
Osteopathia Striata With Cranial Sclerosis
Apnea, Tracheomalacia OMIM:300373
Campomelic Dysplasia
Tracheomalacia, Stridor, Respiratory distress, Neonatal respiratory distress, Apnea, Tracheobronc... OMIM:114290
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Respirator... ORPHA:79102
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis, Tremor ORPHA:667
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Apnea, Decreased nerve conduction velocity, Paresthesia ORPHA:285
Mosaic Variegated Aneuploidy Syndrome
Apnea, Aortic regurgitation ORPHA:1052
Prader-Willi-Like Syndrome
Obstructive sleep apnea, Central apnea, Impaired temperature sensation ORPHA:398073
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Tarp Syndrome
Apnea ORPHA:2886
Semilobar Holoprosencephaly
Abnormal pattern of respiration, Limb dystonia, Chronic lung disease, Central apnea, Abnormal hea... ORPHA:220386
Alobar Holoprosencephaly
Abnormal pattern of respiration, Limb dystonia, Chronic lung disease, Central apnea, Abnormal hea... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal pattern of respiration, Limb dystonia, Chronic lung disease, Central apnea, Abnormal hea... ORPHA:93926
Lobar Holoprosencephaly
Abnormal pattern of respiration, Limb dystonia, Chronic lung disease, Central apnea, Abnormal hea... ORPHA:93924
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Stridor OMIM:218700
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Dystonia OMIM:300352
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Emphysema, Pulmonary insufficiency OMIM:614437
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Respiratory... ORPHA:273
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia, Choreoathetosis OMIM:241080
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
EEG abnormality, Portal hypertension, Aspiration, Asthma, Neonatal respiratory distress, Apnea, I... OMIM:619503
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Paroxysmal dyspne... ORPHA:99125
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Dpagt1-Cdg
EEG with generalized slow activity, Ataxia, Hypsarrhythmia, Prolonged QT interval, Intracranial h... ORPHA:86309
Pseudohypoparathyroidism Type 1C
Paresthesia, Laryngeal dystonia, Prolonged QT interval, Dyspnea ORPHA:79444
Pseudohypoparathyroidism Type 1A
Choreoathetosis, Dyspnea, Paresthesia, Laryngeal dystonia, Prolonged QT interval, Hypertension ORPHA:79443
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea ORPHA:2751
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia, Choreoathetosis ORPHA:3464
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Cardiomyopathy ORPHA:373
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Multiple Endocrine Neoplasia Type 1
Hematemesis, Shortened QT interval, Hypertension, Melena ORPHA:652
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Pallister-Killian Syndrome
Hyperventilation, Hypertrophic cardiomyopathy, Aortic valve stenosis, Apneic episodes in infancy 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.

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

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